• Utility of Comprehensive Genomic Profiling Tests for Patients with Incurable Pancreatic Cancer in Clinical Practice.
    • Yamai T, Ikezawa K, Sugimoto N, Urabe M, Kai Y, Takada R, Nakabori T, Uehara H, Kawamura T, Kunimasa K, Yamamoto S, Wakamatsu T, Hayashi T, Kukita Y, Fujisawa F, Inoue T, Yamaguchi Y, Yamasaki T, Honma K, Ohkawa K.
    • Cancers (Basel). 2023 Feb 3;15(3):970. doi: 10.3390/cancers15030970.
    • Genetic variants in African-American and Hispanic patients with breast cancer.
    • Dutta P, Keung MY, Wu Y, Vadgama JV.
    • Oncol Lett. 2022 Dec 16 [eCollection 2023 Feb];25(2):51. doi: 10.3892/ol.2022.13637.
    • Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.
    • Tavano F, Gioffreda D, Fontana A, Palmieri O, Gentile A, Latiano T, Latiano A, Latiano TP, Scaramuzzi M, Maiello E, Bazzocchi F, Perri F.
    • Mol Med. 2023 Jan 30;29(1):14. doi: 10.1186/s10020-023-00600-1.
    • Is Reflex Germline BRCA1/2 Testing Necessary in Women Diagnosed with Non-Mucinous High-Grade Epithelial Ovarian Cancer Aged 80 Years or Older?
    • Morgan RD, Burghel GJ, Flaum N, Bulman M, Smith P, Clamp AR, Hasan J, Mitchell CL, Salih Z, Woodward ER, Lalloo F, Crosbie EJ, Edmondson RJ, Schlecht H, Jayson GC, Evans DGR.
    • Cancers (Basel). 2023 Jan 25;15(3):730. doi: 10.3390/cancers15030730.
    • Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management.
    • McGee RB, Oak N, Harrison L, Xu K, Nuccio R, Blake AK, Mostafavi R, Lewis S, Taylor LM, Kubal M, Ouma A, Hines-Dowell SJ, Cheng C, Furtado LV, Nichols KE.
    • Clin Cancer Res. 2023 Jan 24:ccr.22.2482. doi: 10.1158/1078-0432.CCR-22-2482. Epub ahead of print.
    • Evaluation of genetic alterations in Hereditary Cancer Susceptibility genes in the Ashkenazi Jewish Community of Mexico.
    • Díaz Velásquez CE, Gitler R, Antoniano A, Kershenovich Sefchovich R, De La Cruz Montoya A, Martínez Gregorio H, Rojas Jiménez EA, Cortez Cardoso Penha R, Terrazas LI, Wegman-Ostrosky T, Levi-Lahad E, Zabaleta J, Perdomo S, Paniagua FV.
    • Front Genet. 2023 Jan 24;14:1094260. doi: 10.3389/fgene.2023.1094260.
    • Utility of RNA testing in individuals at increased risk for hereditary or familial pancreatic cancer. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
    • Dudley B, Karloski E, Millard C, Carraway C, Hoang L, Karam R, Everett J, Brand R.
    • Fam Cancer. [O-08: Research Categories» Pancreatic cancer-related syndromes.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
    • Conference abstract
    • Actionable pathogenic germline variants discovered by panel-based hereditary cancer testing in families with previously identified pathogenic variants. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
    • Neumann C, Mcsweeny M, Rainey K, Campbell H, Nguyen C, Hall M.
    • Fam Cancer. [P-13: Research Categories » Counseling, Behavioral Health, Psychosocial, and Survivorship.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
    • Conference abstract
    • Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.
    • Adam F, Fluri M, Scherz A, Rabaglio M.
    • BMC Med Genomics. 2023 Jan 16;16(1):7. doi: 10.1186/s12920-023-01437-7.
    • Comments on [The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients].
    • Kratz CP, Evans DG.
    • Int J Cancer. 2023 Jan 16. doi: 10.1002/ijc.34432. Epub ahead of print.
    • Letter. Commentary

    •• Reply:

    Reply to: Comments on { The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients}.

    •• Original research:

    The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients.

    • Shallow Whole-Genome Sequencing of Cell-Free DNA (cfDNA) Detects Epithelial Ovarian Cancer and Predicts Patient Prognosis.
    • Bak SE, Kim H, Ho JY, Cho EH, Lee J, Youn SM, Park SW, Han MR, Hur SY, Lee SJ, Choi YJ.
    • Cancers (Basel). 2023 Jan 15;15(2):530. doi: 10.3390/cancers15020530.
    • Guideline-Based, Multi-Gene Panel Germline Genetic Testing for at-Risk Patients with Breast Cancer.
    • Abdel-Razeq H, Abujamous L, Al-Azzam K, Abu-Fares H, Bani Hani H, Alkyam M, Sharaf B, Elemian S, Tamimi F, Abuhijla F, Edaily S, Salama O, Abdulelah H, Daoud R, Abubaker M, Al-Atary A.
    • Breast Cancer (Dove Med Press). 2023 Jan 13;15:1-10. doi: 10.2147/BCTT.S394092.
    • The expression and mutation of BRCA1/2 genes in ovarian cancer: a global systematic study.
    • Chu DT, Vu Ngoc Suong M, Vu Thi H, Vu TD, Nguyen MH, Singh V.
    • Expert Rev Mol Diagn. 2023 Jan 12. doi: 10.1080/14737159.2023.2168190. Epub ahead of print.
    • Review
    • A Glance at Molecular Advances in Cancer Genetics: A Baffling Puzzle Still to Be Solved.
    • Ghiorzo P, Bruno W.
    • Int J Mol Sci. 2023 Jan 11;24(2):1394. doi: 10.3390/ijms24021394.
    • Klinisch relevante molekularpathologische Diagnostik beim Mammakarzinom [Clinically relevant molecular pathological diagnostics in breast cancer].
    • Rodepeter FR, Teply-Szymanski J, Romey M, Grass A, Erber R, Lebeau A, Mack EKM, Tarawneh TS, Gremke N, Boekhoff J, Wündisch T, Wagner U, Jank P, Denkert C.
    • Pathologie (Heidelb). 2023 Jan 11. German. doi: 10.1007/s00292-022-01175-0. Epub ahead of print.
    • Review. [Article in German]
    • The cancer-risk variant frequency among Polish population reported by the first national whole-genome sequencing study.
    • Mroczek M, Liu J, Sypniewski M, Pieńkowski T, Itrych B, Stojak J, Pronobis-Szczylik B, Stępień M, Kaja E, Dąbrowski M, Suchocki T, Wojtaszewska M, Zawadzki P, Mach A, Sztromwasser P, Król ZJ, Szyda J, Dobosz P.
    • Front Oncol. 2023 Jan 9;13:1045817. doi: 10.3389/fonc.2023.1045817.
    • The Contribution of Germline Pathogenic Variants in Breast Cancer Genes to Contralateral Breast Cancer Risk in BRCA1/BRCA2/PALB2-Negative Women.
    • Larionov A, Fewings E, Redman J, Goldgraben M, Clark G, Boice J, Concannon P, Bernstein J, Conti DV, the WECARE Study Collaborative Group, Tischkowitz M.
    • Cancers (Basel). 2023 Jan 8;15(2):415. doi: 10.3390/cancers15020415.
    • Development and Clinical Applications of an Enclosed Automated Targeted NGS Library Preparation System.
    • Shi C, Feng Y, Sun R, Chen J, Zhao Y, Wang Z, Xie S, Zhou J, Yang L, Cao X, Feng J, Zhang C, Wei B, Wang X, Chang Y, Zhao J, Wang Z, Zheng J, Liu J, Chantratita W, Xiong L, Zhang D, Chen C, Ma J.
    • Clin Chim Acta. 2023 Jan 7:117224. doi: 10.1016/j.cca.2023.117224. Epub ahead of print.
    • Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis.
    • Anaclerio F, PILENZI L, Dell'elice A, Ferrante R, Gildetti S, Ferlito LM, Marinelli C, Calabrese G, Stuppia L, Antonucci I.
    • Front Genet. 2023 Jan 4;12:1060504. doi: 10.3389/fgene.2023.1060504.
    • Germline findings in patients with advanced malignancies screened with paired blood–tumour testing for personalised treatment approaches.
    • Roggia C, Armeanu-Ebinger S, Gschwind A, Seibel-Kelemen O, Hertler S, Faust U, Liebmann A, Haack TB, Neumann M, Bonzheim I, Forschner A, Kopp HG, Herster F, Hartkopf A, Bitzer M, Malek NP, Brecht IB, Ruhm K, Möller Y, Löwenheim H, Ossowski S, Rieß OH, Schroeder C.
    • Eur J Cancer. 2022 Nov 8 [2023 Jan 1];179:48-55. doi: 10.1016/j.ejca.2022.11.003. Epub ahead of print.
    • Next-generation sequencing in breast pathology: real impact on routine practice over a decade since its introduction.
    • Nourieh M, Vibert R, Saint-Ghislain M, Cyrta J, Vincent-Salomon A.
    • Histopathology. 2023 Jan;82(1):162-169. doi: 10.1111/his.14794.
    • Internet-Based Germline Genetic Testing for Men With Metastatic Prostate Cancer.
    • Cheng HH, Sokolova AO, Gulati R, Bowen D, Knerr SA, Klemfuss N, Grivas P, Hsieh A, Lee JK, Schweizer MT, Yezefski T, Zhou A, Yu EY, Nelson PS, Montgomery B.
    • JCO Precis Oncol. 2023 Jan;7:e2200104. doi: 10.1200/PO.22.00104.
    • Homologous Recombination Repair Gene Mutations to Predict Olaparib Plus Bevacizumab Efficacy in the First-Line Ovarian Cancer PAOLA-1/ENGOT-ov25 Trial.
    • Pujade-Lauraine E, Brown J, Barnicle A, Wessen J, Lao-Sirieix P, Criscione SW, du Bois A, Lorusso D, Romero I, Petru E, Yoshida H, Vergote I, Colombo N, Hietanen S, Provansal M, Schmalfeldt B, Pignata S, Martín Lorente C, Berton D, Runnebaum IB, Ray-Coquard I.
    • JCO Precis Oncol. 2023 Jan;7:e2200258. doi: 10.1200/PO.22.00258.

    •• Identifier: NCT02477644: Platine, Avastin and OLAparib in 1st Line (PAOLA-1). (ClinicalTrials.gov . Accessed 2023 Jan 30.)

    • Validation of multi-gene panel next-generation sequencing for the detection of BRCA mutation in formalin-fixed, paraffin-embedded epithelial ovarian cancer tissues.
    • Kim ET, Jeong HE, Yoon HJ, Kim KH, Suh DS.
    • Taiwan J Obstet Gynecol. 2023 Jan;62(1):66-70. doi: 10.1016/j.tjog.2022.07.010.
    • Frequency of Pathogenic Germline Mutations in Early and Late Onset Familial Breast Cancer Patients Using Multi-Gene Panel Sequencing: An Egyptian Study.
    • Nassar A, Zekri ARN, Kamel MM, Elberry MH, Lotfy MM, Seadawy MG, Hassan ZK, Soliman HK, Lymona AM, El-Din Youssef AS.
    • Genes (Basel). 2022 Dec 29;14(1):106. doi: 10.3390/genes14010106.
    • Inherited mutations in Chinese patients with upper tract urothelial carcinoma.
    • Wu J, Jin S, Gu C, Wei Y, Zhu Y, Necchi A, Shariat SF, Pan J, Gan H, Dai B, Zhang H, Shi G, Zhu Y, Shen Y, Zhu Y, Ye D.
    • Cell Rep Med. 2022 Dec 23:100883. doi: 10.1016/j.xcrm.2022.100883. Epub ahead of print.
    • Development of a comprehensive approach to adult hereditary cancer testing in Ontario.
    • Bell KA, Kim R, Aronson M, Gillies B, Ali Awan A, Chun K, Hart J, Healey R, Kim L, Klaric G, Panabaker K, Sabatini PJB, Sadikovic B, Selvarajah S, Smith AC, Stockley TL, Vaags AK, Eisen A, Pollett A, Feilotter H.
    • J Med Genet. 2022 Dec 23:jmg-2022-108945. doi: 10.1136/jmg-2022-108945. Epub ahead of print.
    • Genetic testing women with newly diagnosed breast cancer: What criteria are the most predictive of a positive test?
    • Metcalfe KA, Narod SA, Eisen A, Poll A, Zamani N, McCready D, Cil TD, Wright FC, Lerner-Ellis J, McCuaig J, Graham T, Sun P, Akbari MR.
    • Cancer Med. 2022 Dec 21. doi: 10.1002/cam4.5515. Epub ahead of print.
    • Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo-ECAG) ovarian study.
    • Abdel-Razeq H, Al-Azzam K, Elemian S, Abu-Fares H, Abu Sheikha A, Bani Hani H, Bater R, Sharaf B, Heald B, Esplin ED, Nielsen SM, Alkyam M, Abujamous L, Al-Attary A.
    • Mol Genet Genomic Med. 2022 Dec 19:e2125. doi: 10.1002/mgg3.2125. Epub ahead of print.
    • Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients.
    • Nurmi AK, Suvanto M, Dennis J, Aittomäki K, Blomqvist C, Nevanlinna H.
    • Cancers (Basel). 2022 Dec 14;14(24):6158. doi: 10.3390/cancers14246158.
    • Next-generation sequencing of homologous recombination genes could predict efficacy of platinum-based chemotherapy in non-small cell lung cancer.
    • Zhang L, Guan S, Meng F, Teng L, Zhong D.
    • Front Oncol. 2022 Dec 14;12:1035808. doi: 10.3389/fonc.2022.1035808.
    • Clinical Impact of Next-Generation Sequencing Multi-Gene Panel Highlighting the Landscape of Germline Alterations in Ovarian Cancer Patients.
    • Gurioli G, Tedaldi G, Farolfi A, Petracci E, Casanova C, Comerci G, Danesi R, Arcangeli V, Ravegnani M, Calistri D, Zampiga V, Cangini I, Fonzi E, Virga A, Tassinari D, Rosati M, Ulivi P, De Giorgi U.
    • Int J Mol Sci. 2022 Dec 13;23(24):15789. doi: 10.3390/ijms232415789.
    • The performance of multi-gene panels for breast/ovarian cancer predisposition.
    • Nunziato M, Luca Scaglione G, Di Maggio F, Nardelli C, Capoluongo E, Salvatore F.
    • Clin Chim Acta. 2022 Dec 12:S0009-8981(22)01409-7. doi: 10.1016/j.cca.2022.12.007. Epub ahead of print.
    • Molecular profiling of male breast cancer by multigene panel testing: implications for precision oncology.
    • Valentini V, Silvestri V, Bucalo A, Conti G, Karimi M, Di Francesco L, Pomati G, Mezi S, Cerbelli B, Pignataro MG, Nicolussi A, Coppa A, D'Amati G, Giannini G, Ottini L.
    • Front Oncol. 2022 Dec 12;12:1092201. doi: 10.3389/fonc.2022.1092201.
    • The role of next-generation sequencing in the examination of signaling genes in Brca1/2-negative breast cancer cases.
    • Cine N, Ugurtas C, Gokbayrak M, Aydin D, Demir G, Kuru S, Sunnetci-Akkoyunlu D, Eren-Keskin S, Simsek T, Cabuk D, Aksu MG, Canturk NZ, Savli H.
    • Ann Hum Genet. 2022 Dec 7. doi: 10.1111/ahg.12488. Epub ahead of print.
    • Patient uptake of updated genetic testing following uninformative BRCA1 and BRCA2 results.
    • Macklin-Mantia SK, Clift KE, Maimone S, Hodge DO, Riegert-Johnson D, Hines SL.
    • J Genet Couns. 2022 Dec 7. doi: 10.1002/jgc4.1665. Epub ahead of print.
    • Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
    • Bonfiglio F, Lasorsa VA, Cantalupo S, D'Alterio G, Aievola V, Boccia A, Ardito M, Furini S, Renieri A, Morini M, Stainczyk S, Westermann F, Paolella G, Eva A, Iolascon A, Capasso M.
    • EBioMedicine. 2022 Dec 6;87:104395. doi: 10.1016/j.ebiom.2022.104395. Epub ahead of print.
    • The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients.
    • Wagener R, Walter C, Auer F, Alzoubi D, Hauer J, Fischer U, Varghese J, Dugas M, Borkhardt A, Brozou T.
    • Int J Cancer. 2022 Dec 5. doi: 10.1002/ijc.34390. Epub ahead of print.

    •• Letter, Commentary:

    Comments on [The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients].

    •• Reply:

    Reply to: Comments on { The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients}.

    • Yes, We Can, But Should We? Ethical Considerations in Reporting Germline Findings From Paired Tumor-Normal Genomic Testing in Patients With Advanced Cancer.
    • Hunter CL, Helft PR.
    • J Clin Oncol. 2022 Dec 5:JCO2200796. doi: 10.1200/JCO.22.00796. Epub ahead of print.
    • Metastatic colorectal cancer as the primary phenotype in a hereditary breast and ovarian cancer patient with Germline BRCA1 mutation: a case report.
    • Liu Y, Zhu J, Wei X, Yang D, Li S, Qian X, Li L.
    • J Ovarian Res. 2022 Dec 3;15(1):127. doi: 10.1186/s13048-022-01069-y.
    • NGS-based targeted gene mutational profiles in Korean patients with pancreatic cancer.
    • Jung K, Lee S, Na HY, Kim JW, Lee JC, Hwang JH, Kim JW, Kim J.
    • Sci Rep. 2022 Dec 3;12(1):20937. doi: 10.1038/s41598-022-24732-2.
    • Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.
    • Liu ZX, Zhang XL, Zhao Q, Chen Y, Sheng H, He CY, Sun YT, Lai MY, Wu MQ, Zuo ZX, Wang W, Zhou ZW, Wang FH, Li YH, Xu RH, Qiu MZ.
    • JAMA Netw Open. 2022 Dec 1;5(12):e2245836. doi: 10.1001/jamanetworkopen.2022.45836.
    • Genetic Predisposition to Male Breast Cancer: A Case Series.
    • Apessos A, Agiannitopoulos K, Pepe G, Tsaousis GN, Pitta P, Bili C, Florentin L, Saloustros E, Kampletsas E, Tryfonopoulos D, Tsoukalas N, Bournakis E, Zagouri F, Kotsakis A, Koumarianou A, Korantzis I, Boukovinas I, Lypas G, Fountzilas G, Michalaki V, Xynogalos S, Linardou H, Papadopoulou E, Nasioulas G, Georgoulias V.
    • Anticancer Res. 2022 Dec;42(12):5795-5801. doi: 10.21873/anticanres.16086.
    • Germline pathogenic variants associated with ovarian cancer: A historical overview.
    • Johansen EL, Thusgaard CF, Thomassen M, Boonen SE, Jochumsen KM.
    • Gynecol Oncol Rep. 2022 Nov 8 [eCollection 2022 Dec];44:101105. doi: 10.1016/j.gore.2022.101105.
    • Germline Variants in DNA Damage Repair Genes and HOXB13 Among Black Patients With Early-Onset Prostate Cancer.
    • Trendowski MR, Sample C, Baird T, Sadeghpour A, Moon D, Ruterbusch JJ, Beebe-Dimmer JL, Cooney KA.
    • JCO Precis Oncol. 2022 Nov [2022 Nov 29];6:e2200460. doi: 10.1200/PO.22.00460.

    •• Research news: Genetic Variants Linked to Prostate Cancer in Black Men Identified. (Inside Precision Medicine)

    •• Research news: Genetic Variants Could Predict Prostate Cancer Risk in Black Men. (Inside Precision Medicine)

    • Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.
    • Carrasco E, López-Fernández A, Codina-Sola M, Valenzuela I, Cueto-González AM, Villacampa G, Navarro V, Torres-Esquius S, Palau D, Cruellas M, Torres M, Perez-Dueñas B, Abulí A, Diez O, Sábado-Álvarez C, García-Arumí E, Tizzano EF, Moreno L, Balmaña J.
    • J Med Genet. 2022 Nov 29:jmg-2022-108929. doi: 10.1136/jmg-2022-108929. Epub ahead of print.
    • Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers.
    • Evans DG, Sithambaram S, van Veen EM, Burghel GJ, Schlecht H, Harkness EF, Byers H, Ellingford JM, Gandhi A, Howell SJ, Howell A, Forde C, Lalloo F, Newman WG, Smith MJ, Woodward ER.
    • J Med Genet. 2022 Nov 28:jmg-2022-108790. doi: 10.1136/jmg-2022-108790. Epub ahead of print.
    • Whole-exome sequencing of BRCA-negative breast cancer patients and case-control analyses identify variants associated with breast cancer susceptibility.
    • Lee NY, Hum M, Amali AA, Lim WK, Wong M, Myint MK, Tay RJ, Ong PY, Samol J, Lim CW, Ang P, Tan MH, Lee SC, Lee ASG.
    • Hum Genomics. 2022 Nov 23;16(1):61. doi: 10.1186/s40246-022-00435-7.
    • Identification of novel exonic variants contributing to hereditary breast and ovarian cancer in West Indian population.
    • Waghela BN, Pandit RJ, Puvar A, Shah FD, Patel PS, Vora H, Sheth H, Tarapara B, Pandya S, Joshi CG, Joshi MN.
    • Gene. 2022 Nov 22:147070. doi: 10.1016/j.gene.2022.147070. Epub ahead of print.
    • Investigating Psychological Impact after Receiving Genetic Risk Results—A Survey of Participants in a Population Genomic Screening Program.
    • Zayac McCormick CZ, Dilzell Yu K, Johns A, Campbell-Salome G, Hallquist MLG, Sturm AC, Buchanan AH.
    • J Pers Med. 2022 Nov 22;12(12):1943. doi: 10.3390/jpm12121943.
    • Four-in-Five Eligible Breast Cancer Patients Not Informed of Genomic Testing Options.
    • [No author given]
    • Inside Precision Medicine. Topics. Oncology. 2022 Nov 21.
    • UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
    • Hanson H, Kulkarni A, Loong L, Kavanaugh G, Torr B, Allen S, Ahmed M, Antoniou AC, Cleaver R, Dabir T, Evans DG, Golightly E, Jewell R, Kohut K, Manchanda R, Murray A, Murray J, Ong KR, Rosenthal AN, Woodward ER, Eccles DM, Turnbull C, Tischkowitz M; Consensus meeting attendees, Lalloo F.
    • J Med Genet. 2022 Nov 21:jmg-2022-108898. doi: 10.1136/jmg-2022-108898. Epub ahead of print.
    • Genetic Characterization in High-Risk Individuals from a Low-Resource City of Peru.
    • Zavaleta E, Solis N, Palacios MI, Zevallos-Escobar LE, Vasquez Corales E, Bazo-Alvarez JC, Dominguez-Barrera C, Campos A, Wernhoff P, Ekstrøm PO, Møller P, Visnovska T, Hovig E, Balazar-Palacios J, Alvarez-Valenzuela K, Nakken S, Dominguez-Valentin M.
    • Cancers (Basel). 2022 Nov 15;14(22):5603. doi: 10.3390/cancers14225603.
    • Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Among Patients With Colorectal Cancer.
    • Coughlin SE, Heald B, Clark DF, Nielsen SM, Hatchell KE, Esplin ED, Katona BW.
    • JCO Precis Oncol. 2022 Nov [12];6:e2200517. doi: 10.1200/PO.22.00517.
    • Rare MYC-N11S germline mutation indicative of inherited breast cancer in a multigeneration family.
    • Budurlean L, Baker M, Broach J.
    • BMJ Case Rep. 2022 Nov 11;15(11):e251336. doi: 10.1136/bcr-2022-251336.
    • Case report
    • Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer.
    • Holowatyj AN, Washington MK, Tavtigian SV, Eng C, Horton C.
    • JAMA Oncol. 2022 Nov 11. doi: 10.1001/jamaoncol.2022.5425. Epub ahead of print.
    • Implementation of multigene panel testing for breast and ovarian cancer in South Africa: a step towards excellence in Oncology for the public sector.
    • Van Der Merwe NC, Ntaita KS, Stofberg H, Combrink HM, Oosthuizen J, Kotze MJ.
    • Front Oncol. 2022 Nov 8;12:938561. doi: 10.3389/fonc.2022.938561.
    • Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center.
    • Poliani L, Greco L, Barile M, Buono AD, Bianchi P, Basso G, Giatti V, Genuardi M, Malesci A, Laghi L; Alliance Against Cancer.
    • ESMO Open. 2022 Nov 7;7(6):100607. doi: 10.1016/j.esmoop.2022.100607. Epub ahead of print.
    • Laboratory Cross-Comparison and Ring Test Trial for Tumor BRCA Testing in a Multicenter Epithelial Ovarian Cancer Series: The BORNEO GEICO 60-0 Study.
    • Garcia-Casado Z, Oaknin A, Mendiola M, Alkorta-Aranburu G, Antunez-Lopez JR, Moreno-Bueno G, Palacios J, Yubero A, Marquez R, Gallego A, Sanchez-Heras AB, Lopez-Guerrero JA, Perez-Segura C, Barretina-Ginesta P, Alarcon J, Gaba L, Marquez A, Matito J, Cueva J, Palacio I, Iglesias M, Arcusa A, Sanchez-Lorenzo L, Guerra-Alia E, Romero I, Vivancos A.
    • J Pers Med. 2022 Nov 4;12(11):1842. doi: 10.3390/jpm12111842.
    • Disparities in cancer genetics care by race/ethnicity among pan-cancer patients with pathogenic germline variants.
    • Liu YL, Maio A, Kemel Y, Salo-Mullen EE, Sheehan M, Tejada PR, Trottier M, Arnold AG, Fleischut MH, Latham A, Carlo MI, Murciano-Goroff YR, Walsh MF, Mandelker D, Mehta N, Bandlamudi C, Arora K, Zehir A, Berger MF, Solit DB, Aghajanian C, Diaz LA Jr, Robson ME, Brown CL, Offit K, Hamilton JG, Stadler ZK.
    • Cancer. 2022 Nov 1;128(21):3870-3879. doi: 10.1002/cncr.34434. Epub 2022 Aug 30.
    • Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family.
    • Agaoglu NB, Ng OH, Unal B, Dogan OA, Amanvermez U, Yildiz J, Doganay L, Ghazani A, Rana HQ.
    • Cancer Genet. 2022 Nov 1;268-269:128-136. doi: 10.1016/j.cancergen.2022.10.144. Epub ahead of print.
    • Case report
    • Olaparib Efficacy in Patients with Metastatic Castration-resistant Prostate Cancer and BRCA1, BRCA2 or ATM Alterations Identified by Testing Circulating Tumor DNA.
    • Matsubara N, de Bono J, Olmos D, Procopio G, Kawakami S, Ürün Y, van Alphen R, Flechon A, Carducci MA, Choi YD, Hotte SJ, Korbenfeld E, Kramer G, Agarwal N, Chi KN, Dearden S, Gresty C, Kang J, Poehlein C, Harrington EA, Hussain M.
    • Clin Cancer Res. 2022 Nov 1:CCR-21-3577. doi: 10.1158/1078-0432.CCR-21-3577. Epub ahead of print.

    •• Identifier: NCT02987543: Study of Olaparib (Lynparza™) Versus Enzalutamide or Abiraterone Acetate in Men With Metastatic Castration-Resistant Prostate Cancer (PROfound Study). (ClinicalTrials.gov . Accessed 2022 Nov 5.)

    • Cancer risks associated with heterozygous ATM loss of function and missense pathogenic variants based on multigene panel analysis.
    • Laitman Y, Nielsen SM, Bernstein-Molho R, Heald B, Hatchell KE, Esplin ED, Friedman E.
    • Breast Cancer Res Treat. 2022 Nov;196(2):355-361. doi: 10.1007/s10549-022-06723-z. Epub 2022 Sep 12.
    • Multigene panel testing might explain the increased risk of secondary malignancies after radiotherapy in Japanese breast cancer patients.
    • Altundag K.
    • Breast Cancer Res Treat. 2022 Nov;196(2):439. doi: 10.1007/s10549-022-06742-w. Epub 2022 Sep 10.

    Original research:

    Risk of secondary malignancy after radiotherapy for breast cancer: long-term follow-up of Japanese patients with breast cancer.

    • Interdisciplinary risk counseling for hereditary breast and ovarian cancer: real-world data from a specialized center.
    • Zang B, Helms M, Besch L, Kalmbach N, Stegen S, Blohmer JU, Speiser D.
    • Arch Gynecol Obstet. 2022 Oct 28. doi: 10.1007/s00404-022-06819-3. Epub ahead of print.
    • Overview on population screening for carriers with germline BRCA mutation in China.
    • Lei H, Zhang M, Zhang L, Hemminki K, Wang X, Chen T.
    • Front Oncol. 2022 Oct 24;12:1002360. doi: 10.3389/fonc.2022.1002360.
    • Mutational landscape of DNA damage response deficiency-related genes and its association with immune biomarkers in esophageal squamous cell carcinoma.
    • Chen G, Zhu YJ, Chen J, Miao F, Wu N, Song Y, Mao BB, Wang SZ, Xu F, Chen ZM.
    • Neoplasma. 2022 Oct 21:220721N738. doi: 10.4149/neo_2022_220721N738. Epub ahead of print.
    • Tumor Fraction Correlates With Detection of Actionable Variants Across > 23,000 Circulating Tumor DNA Samples.
    • Husain H, Pavlick DC, Fendler BJ, Madison RW, Decker B, Gjoerup O, Parachoniak CA, McLaughlin-Drubin M, Erlich RL, Schrock AB, Frampton GM, Das Thakur M, Oxnard GR, Tukachinsky H.
    • JCO Precis Oncol. 2022 Oct [20];6:e2200261. doi: 10.1200/PO.22.00261.
    • Clinical decisions by the molecular tumor board on comprehensive genomic profiling tests in Japan: A retrospective observational study.
    • Shirota H, Komine K, Takahashi M, Takahashi S, Miyauchi E, Niizuma H, Tada H, Shimada M, Niihori T, Aoki Y, Sugiyama I, Kawamura M, Yasuda J, Suzuki S, Iwaya T, Saito M, Saito T, Shibata H, Furukawa T, Ishioka C.
    • Cancer Med. 2022 Oct 17. doi: 10.1002/cam4.5349. Epub ahead of print.
    • Hereditary Breast and Ovarian Cancer Service in Sparsely Populated Western Pomerania.
    • Felbor U, Bülow R, Schmutzler RK, Rath M.
    • Healthcare (Basel). 2022 Oct 13;10(10):2021. doi: 10.3390/healthcare10102021.
    • Genetic Testing Challenges in Oncology: Missed Variant Update Delays Li-Fraumeni Diagnosis.
    • Ray T.
    • Precision Oncology News. 2022 Oct 12.

    Special article:

    Is there a duty to reinterpret genetic data? The ethical dimensions.

    • A novel germline mutation of TP53 with breast cancer diagnosed as Li-Fraumeni syndrome.
    • Kai M, Kubo M, Shikada S, Hayashi S, Morisaki T, Yamada M, Takao Y, Shimazaki A, Harada Y, Kaneshiro K, Mizuuchi Y, Shindo K, Nakamura M.
    • Surg Case Rep. 2022 Oct 11;8(1):197. doi: 10.1186/s40792-022-01546-y.
    • Application of Multigene Panels Testing for Hereditary Cancer Syndromes.
    • Bilyalov A, Nikolaev S, Shigapova L, Khatkov I, Danishevich A, Zhukova L, Smolin S, Titova M, Lisica T, Bodunova N, Shagimardanova E, Gusev O.
    • Biology (Basel). 2022 Oct 5;11(10):1461. doi: 10.3390/biology11101461.
    • Population genomic screening: Ethical considerations to guide age at implementation.
    • Spencer SJ, Fullerton SM.
    • Front Genet. 2022 Oct 4;13:899648. doi: 10.3389/fgene.2022.899648.
    • Inherited Germline Cancer Susceptibility Gene Variants in Individuals with Non-Muscle-Invasive Bladder Cancer.
    • Pietzak EJ, Whiting K, Srinivasan P, Bandlamudi C, Khurram A, Joseph V, Walasek A, Bochner E, Clinton T, Almassi N, Truong H, de Jesus Escano MR, Wiseman M, Mandelker D, Kemel Y, Zhang L, Walsh MF, Cadoo KA, Coleman JA, Al-Ahmadie H, Rosenberg JE, Iyer GV, Solit DB, Ostrovnaya I, Offit K, Robson ME, Stadler ZK, Berger MF, Bajorin DF, Carlo M, Bochner BH.
    • Clin Cancer Res. 2022 Oct 3;28(19):4267-4277. doi: 10.1158/1078-0432.CCR-22-1006.
    • Moderate penetrance genes complicate genetic testing for breast cancer diagnosis: ATM, CHEK2, BARD1 and RAD51D.
    • Graffeo R, Rana HQ, Conforti F, Bonanni B, Cardoso MJ, Paluch-Shimon S, Pagani O, Goldhirsch A, Partridge AH, Lambertini M, Garber JE.
    • Breast. 2022 Oct;65:32-40. doi: 10.1016/j.breast.2022.06.003. Epub 2022 Jun 18.
    • Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma.
    • Xia B, Biswas K, Foo TK, Gomes TT, Riedel-Topper M, Southon E, Kang Z, Huo Y, Reid S, Stauffer S, Zhou W, Zhu B, Koka H, Yepes S, Brodie SA, Jones K, Vogt A, Zhu B, Carter B, Freedman ND, Hicks B, Yeager M, Chanock SJ, Couch F, Parry DM, Monteiro AN, Goldstein AM, Carvalho MA, Sharan SK, Yang XR.
    • Hum Mutat. 2022 Oct;43(10):1396-1407. doi: 10.1002/humu.24427. Epub 2022 Jul 12.
    • Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.
    • Pereira JZ, Carneiro JG, Vieira MS, Valente BM, de Oliveira PZ, Mello CL, de Campos CLV, Gomes KB.
    • Mol Biol Rep. 2022 Oct;49(10):9509-9520. doi: 10.1007/s11033-022-07840-0. Epub 2022 Aug 18.
    • Deriving tumor purity from cancer next generation sequencing data: applications for quantitative ERBB2 (HER2) copy number analysis and germline inference of BRCA1 and BRCA2 mutations.
    • Siegmund SE, Manning DK, Davineni PK, Dong F.
    • Mod Pathol. 2022 Oct;35(10):1458-1467. doi: 10.1038/s41379-022-01083-x. Epub 2022 Jul 28.
    • Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing?
    • Infante M, Arranz-Ledo M, Lastra E, Abella LE, Ferreira R, Orozco M, Hernández L, Martínez N, Durán M.
    • Int J Mol Sci. 2022 Sep 29;23(19):11499. doi: 10.3390/ijms231911499.
    • A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility.
    • Marchena-Perea EM, Salazar-Hidalgo ME, Gómez-Sanz A, Arranz-Ledo M, Barroso A, Fernández V, Tejera-Pérez H, Pita G, Núñez-Torres R, Pombo L, Morales-Chamorro R, Cano-Cano JM, Soriano MDC, Garre P, Durán M, Currás-Freixes M, de la Hoya M, Osorio A.
    • Cancers (Basel). 2022 Sep 28;14(19):4738. doi: 10.3390/cancers14194738.
    • HRD-MILN: Accurately estimate tumor homologous recombination deficiency status from targeted panel sequencing data.
    • Wang X, Xu Y, Zhang Y, Wang S, Zhang X, Yi X, Zhang S, Wang J.
    • Front Genet. 2022 Sep 28;13:990244. doi: 10.3389/fgene.2022.990244.
    • Inherited heterozygous Fanconi anemia gene mutations in a therapy-related CMML patient with a rare NUP98-HOXC11 fusion: a case report and literature review.
    • Shen K, Zhang M, Wang J, Mu W, Wang J, Wang C, Xing S, Hong Z, Xiao M.
    • Front Oncol. 2022 Sep 28;12:1036511. doi: 10.3389/fonc.2022.1036511.
    • Who Should Have Multigene Germline Testing for Hereditary Cancer?
    • Savage SA.
    • J Clin Oncol. 2022 Sep 27:JCO2201691. doi: 10.1200/JCO.22.01691. Epub ahead of print.

    Original research:

    Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment.

    • Integration of Universal Germline Genetic Testing for All New Breast Cancer Patients.
    • Culver JO, Freiberg Y, Ricker C, Comeaux JG, Chang EY, Banerjee V, Sturgeon D, Solomon I, Kagey J, Dobre MG, Carey J, Carr A, Cho S, Lu J, Kang IM, Patel K, Terando A, Ye JC, Li M, Lerman C, Spicer D, Nelson M.
    • Ann Surg Oncol. 2022 Sep 26. doi: 10.1245/s10434-022-12595-w. Epub ahead of print.
    • Returning individual genomic results to population-based cohort study participants with BRCA1/2 pathogenic variants.
    • Ohneda K, Hamanaka Y, Kawame H, Fuse N, Nagami F, Suzuki Y, Yamaguchi-Kabata Y, Shimada M, Masamune A, Aoki Y, Ishida T, Yamamoto M.
    • Breast Cancer. 2022 Sep 26. doi: 10.1007/s12282-022-01404-7. Epub ahead of print.
    • Germline Variants in 32 Cancer-Related Genes among 700 Chinese Breast Cancer Patients by Next-Generation Sequencing: A Clinic-Based, Observational Study.
    • Yang L, Xie F, Liu C, Zhao J, Hu T, Wu J, Zhao X, Wang S.
    • Int J Mol Sci. 2022 Sep 24;23(19):11266. doi: 10.3390/ijms231911266.
    • Clinical Utility of Universal Germline Genetic Testing for Patients With Breast Cancer.
    • Whitworth PW, Beitsch PD, Patel R, Rosen B, Compagnoni G, Baron PL, Simmons R, Brown EA, Gold L, Holmes D, Smith LA, Kinney M, Grady I, Clark P, Barbosa K, Lyons S, Riley L, Coomer C, Curcio L, Ruiz A, Khan S, MacDonald H, Hughes K, Hardwick MK, Heald B, Munro SB, Nielsen SM, Esplin ED.
    • JAMA Netw Open. 2022 Sep 1 [2022 Sep 22];5(9):e2232787. doi: 10.1001/jamanetworkopen.2022.32787.

    Research news: Universal Genetic Testing in Breast Cancer Further Supported in New Invitae-Led Study. (GenomeWeb)

    Research news: Time for Universal Germline Genetic Testing in Breast Cancer. (Medscape)

    • Increased Risk of Hereditary Prostate Cancer in Italian Families with Hereditary Breast and Ovarian Cancer Syndrome Harboring Mutations in BRCA and in Other Susceptibility Genes.
    • D’Elia G, Caliendo G, Tzioni MM, Albanese L, Passariello L, Molinari AM, Vietri MT.
    • Genes (Basel). 2022 Sep 21;13(10):1692. doi: 10.3390/genes13101692.
    • Genetic Tests Create Treatment Opportunities and Confusion for Breast Cancer Patients.
    • Andrews M.
    • KHN [Kaiser Health News]. 2022 Sep 21.

    Press: Genetic Tests Create Treatment Opportunities and Confusion for Breast Cancer Patients. (Medscape)

    • Targeted molecular profiling of epithelial ovarian cancer from Italian BRCA wild-type patients with a BRCA and PARP pathways gene panel.
    • Salvati A, Carnevali I, Alexandrova E, Facchi S, Ronchi S, Libera L, Sahnane N, Memoli D, Lamberti J, Amabile S, Pepe S, Tarallo R, Sessa F, Weisz A, Tibiletti MG, Rizzo F.
    • Exp Mol Pathol. 2022 Sep 20;128:104833. doi: 10.1016/j.yexmp.2022.104833. Epub ahead of print.
    • Detection of Breast Cancer Lump and BRCA1/2 Genetic Mutation under Deep Learning.
    • Miao Y, Tang S.
    • Comput Intell Neurosci. 2022 Sep 19;2022:9591781. doi: 10.1155/2022/9591781.
    • Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
    • Loveday C, Garrett A, Law P, Hanks S, Poyastro-Pearson E, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Walker L; Breast and Ovarian Cancer Susceptibility Collaboration, Eccles D, Evans DG, Snape K, Hanson H, Houlston RS, Turnbull C.
    • Ann Oncol. 2022 Sep 16:S0923-7534(22)04143-6. doi: 10.1016/j.annonc.2022.09.152. Epub ahead of print.
    • Targeted Sequencing of Germline Breast Cancer Susceptibility Genes for Discovering Pathogenic/Likely Pathogenic Variants in the Jakarta Population.
    • Panigoro SS, Paramita RI, Siswiandari KM, Fadilah F.
    • Diagnostics (Basel). 2022 Sep 16;12(9):2241. doi: 10.3390/diagnostics12092241.
    • Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer.
    • Esplin ED, Nielsen SM, Bristow SL, Garber JE, Hampel H, Rana HQ, Samadder NJ, Shore ND, Nussbaum RL.
    • JCO Precis Oncol. 2022 Sep [2022 Sep 15];6:e2100516. doi: 10.1200/PO.21.00516.
    • Gene-based Confirmatory Germline Testing Following Tumor-only Sequencing of Prostate Cancer.
    • Truong H, Breen K, Nandakumar S, Sjoberg DD, Kemel Y, Mehta N, Lenis AT, Reisz PA, Carruthers J, Benfante N, Joseph V, Khurram A, Gopalan A, Fine SW, Reuter VE, Vickers AJ, Birsoy O, Liu Y, Walsh M, Latham A, Mandelker D, Stadler ZK, Pietzak E, Ehdaie B, Touijer KA, Laudone VP, Slovin SF, Autio KA, Danila DC, Rathkopf DE, Eastham JA, Chen Y, Morris MJ, Offit K, Solit DB, Scher HI, Abida W, Robson ME, Carlo MI.
    • Eur Urol. 2022 Sep 14:S0302-2838(22)02619-7. doi: 10.1016/j.eururo.2022.08.028. Epub ahead of print.
    • Biomarker Test Access for Precision Oncology Varies Widely in Europe, ESMO Survey Finds.
    • Hopkins C.
    • Precision Oncology News. 2022 Sep 14.
    • Conference News
    • Clinical Significance of Germline Pathogenic Variants among 51 Cancer Predisposition Genes in an Unselected Cohort of Italian Pancreatic Cancer Patients.
    • Puccini A, Ponzano M, Dalmasso B, Vanni I, Gandini A, Puglisi S, Borea R, Cremante M, Bruno W, Andreotti V, Allavena E, Martelli V, Catalano F, Grassi M, Iaia ML, Pirrone C, Pastorino A, Fornarini G, Sciallero S, Ghiorzo P, Pastorino L.
    • Cancers (Basel). 2022 Sep 13;14(18):4447. doi: 10.3390/cancers14184447.
    • Clinical application of comprehensive genomic profiling panel to thoracic malignancies: A single-center retrospective study.
    • Kunimasa K, Sugimoto N, Kawamura T, Yamasaki T, Honma K, Nagata S, Kukita Y, Fujisawa F, Inoue T, Yamaguchi Y, Kitasaka M, Wakamatsu T, Yamai T, Yamamoto S, Hayashi T, Inoue T, Tamiya M, Imamura F, Nishimura K, Nishino K.
    • Thorac Cancer. 2022 Sep 13. doi: 10.1111/1759-7714.14643. Epub ahead of print.
    • Other Primary Malignancies in Patients with Breast Cancer Who Undergo Germline Panel Testing.
    • Murphy BL, Yi M, Gutierrez Barrera AM, Tripathy D, Hunt KK, Arun BK.
    • Ann Surg Oncol. 2022 Sep 12. doi: 10.1245/s10434-022-12468-2. Epub ahead of print.
    • Detection of BRCA1/2 pathogenic variants in patients with breast and/or ovarian cancer and their families. Analysis of 3,458 cases from Lower Silesia (Poland) according to the diagnostic algorithm of the National Cancer Control Programme.
    • Doraczynska-Kowalik A, Michalowska D, Matkowski R, Czykalko E, Blomka D, Semeniuk M, Abrahamowska M, Janus-Szymanska G, Mlynarczykowska P, Szynglarewicz B, Pawlak I, Maciejczyk A, Laczmanska I.
    • Front Genet. 2022 Sep 12;13:941375. doi: 10.3389/fgene.2022.941375.
    • Whole-exome sequencing reveals a comprehensive germline mutation landscape and identifies twelve novel predisposition genes in Chinese prostate cancer patients.
    • Liang Y, Chiu PK, Zhu Y, Wong CY, Xiong Q, Wang L, Teoh JY, Cao Q, Wei Y, Ye DW, Tsui SK, Ng CF.
    • PLoS Genet. 2022 Sep 12;18(9):e1010373. doi: 10.1371/journal.pgen.1010373.
    • Prevalence and risk estimation of cancer-predisposing genes for upper urinary tract urothelial carcinoma in Japanese.
    • Sekine Y, Iwasaki Y, Hakozaki N, Endo M, Kamatani Y, Matsuda K, Murakami Y, Sano T, Akamatsu S, Kobayashi T, Nakagawa H, Numakura K, Narita S, Habuchi T, Momozawa Y.
    • Jpn J Clin Oncol. 2022 Sep 10:hyac141. doi: 10.1093/jjco/hyac141. Epub ahead of print.
    • Next-generation sequencing based detection of BRCA1 and BRCA2 large genomic rearrangements in Chinese cancer patients.
    • Hua D, Tian Q, Wang X, Bei T, Cui L, Zhang B, Bao C, Bai Y, Zhao X, Yuan P.
    • Front Oncol. 2022 Sep 6;12:898916. doi: 10.3389/fonc.2022.898916.
    • Whole-exome sequencing study of familial nasopharyngeal carcinoma and its implication for identifying high-risk individuals.
    • Wang TM, He YQ, Xue WQ, Zhang JB, Xia YF, Deng CM, Zhang WL, Xiao RW, Liao Y, Yang DW, Zhou T, Li DH, Luo LT, Tong XT, Wu YX, Chen XY, Li XZ, Zhang PF, Zheng XH, Zhang SD, Hu YZ, Wang F, Wu ZY, Zheng MQ, Huang JW, Jia YJ, Yuan LL, You R, Zhou GQ, Lu LX, Liu YY, Chen MY, Feng L, Dai W, Ren ZF, Mai HQ, Sun Y, Ma J, Zheng W, Lung ML, Jia WH.
    • J Natl Cancer Inst. 2022 Sep 6:djac177. doi: 10.1093/jnci/djac177. Epub ahead of print.
    • Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.
    • Usui Y, Iwasaki Y, Matsuo K, Endo M, Kamatani Y, Hirata M, Sugano K, Yoshida T, Matsuda K, Murakami Y, Maeda Y, Nakagawa H, Momozawa Y.
    • Cancer Sci. 2022 Sep 5. doi: 10.1111/cas.15522. Epub ahead of print.
    • What can we learn from more than 1000 Brazilian patients at risk of hereditary cancer?
    • Leite ACR, Suzuki DA, Pereira AAL, Machado NP, Barroso-Sousa R, Correa TS, Moura FC, Morbeck IAP, Gumz BP, Faria LDBB, Fernandes GDS, Sandoval RL.
    • Front Oncol. 2022 Sep 5;12:963910. doi: 10.3389/fonc.2022.963910.
    • A germline exome analysis reveals harmful POT1 variants in multiple myeloma patients and families.
    • Hakkarainen M, Koski JR, Heckman CA, Anttila P, Silvennoinen R, Lievonen J, Kilpivaara O, Wartiovaara-Kautto U.
    • EJHaem. 2022 Sep 2;3(4):1352-1357. doi: 10.1002/jha2.557.
    • Mutational signature 3 detected from clinical panel sequencing is associated with responses to olaparib in breast and ovarian cancers.
    • Batalini F, Gulhan DC, Mao V, Tran A, Polak M, Xiong N, Tayob N, Tung NM, Winer EP, Mayer EL, Knappskog S, Lønning PE, Matulonis UA, Konstantinopoulos PA, Solit DB, Won H, Eikesdal HP, Park PJ, Wulf GM.
    • Clin Cancer Res. 2022 Sep 1:CCR-22-0749. doi: 10.1158/1078-0432.CCR-22-0749. Epub ahead of print.

    Identifier: NCT01623349: Phase I Study of the Oral PI3kinase Inhibitor BKM120 or BYL719 and the Oral PARP Inhibitor Olaparib in Patients With Recurrent Triple Negative Breast Cancer or High Grade Serous Ovarian Cancer. (ClinicalTrials.gov)

    Identifier: NCT02624973: PErsonalized TREatment of High-risk MAmmary Cancer - the PETREMAC Trial (PETREMAC). (ClinicalTrials.gov)

    • Implementing universal upfront multi-gene panel testing in endometrial cancer: From cost to practical considerations.
    • Levine MD, Barrington DA, Hampel H, Goodfellow PJ, Cohn DE.
    • Gynecol Oncol. 2022 Sep;166(3):538-542. doi: 10.1016/j.ygyno.2022.07.016. Epub 2022 Jul 21.
    • Array genotyping as diagnostic approach in medical genetics.
    • Witsch-Baumgartner M, Schwaninger G, Schnaiter S, Kollmann F, Burkhard S, Gröbner R, Mühlegger B, Schamschula E, Kirchmeier P, Zschocke J.
    • Mol Genet Genomic Med. 2022 Sep;10(9):e2016. doi: 10.1002/mgg3.2016. Epub 2022 Aug 1.
    • Detection of BRCA1 Pathogenic Variant in a 24-Year-Old Endometrial Cancer Patient: Risks of Several Hereditary Tumor Syndromes Assessed Using Germline Multigene Panel Testing.
    • Wang X, Kaneko K, Arakawa H, Habano E, Omi M, Nakashima E, Kawachi H, Tonooka A, Omatsu K, Nomura H, Yunokawa M, Kanao H, Takahashi S, Nakajima T, Ueki A.
    • Case Rep Oncol. 2022 Aug 31;15(2):792-797. doi: 10.1159/000525941.
    • Characterization of genetic predisposition to molecular subtypes of breast cancer in Brazilian patients.
    • Paixão D, Torrezan GT, Santiago KM, Formiga MN, Ahuno ST, Dias-Neto E, Tojal da Silva I, Foulkes WD, Polak P, Carraro DM.
    • Front Oncol. 2022 Aug 31;12:976959. doi: 10.3389/fonc.2022.976959.
    • Australian Study to Assess Feasibility, Scalability of Population Genetics Screening.
    • Ray F.
    • GenomeWeb. Research. 2022 Aug 31.
    • News
    • Online Tool IDs People With Genetic Mutations Linked to Cancer.
    • Brooks M.
    • Medscape Oncology. 2022 Aug 30.

    Original research:

    Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment.

    • Eligibility, uptake and response to germline genetic testing in women with DCIS.
    • Turza L, Lovejoy LA, Turner CE, Shriver CD, Ellsworth RE.
    • Front Oncol. 2022 Aug 26;12:918757. doi: 10.3389/fonc.2022.918757.
    • Strong founder effect for BRCA1 c.3629_3630delAG pathogenic variant in Chechen patients with breast or ovarian cancer.
    • Sokolenko AP, Sultanova LV, Stepanov IA, Romanko AA, Venina AR, Sokolova TN, Musayeva HS, Tovgereeva MY, Magomedova MK, Akhmatkhanov KU, Vagapova EI, Suleymanov EA, Vasilyeva EV, Bakaeva EK, Bizin IV, Aleksakhina SN, Imyanitov EN.
    • Cancer Med. 2022 Aug 23. doi: 10.1002/cam4.5159. Epub ahead of print.
    • Prognostic significance of pathogenic variants in BRCA1, BRCA2, ATM and PALB2 genes in men undergoing hormonal therapy for advanced prostate cancer.
    • Kimura H, Mizuno K, Shiota M, Narita S, Terada N, Fujimoto N, Ogura K, Hatano S, Iwasaki Y, Hakozaki N, Ishitoya S, Sumiyoshi T, Goto T, Kobayashi T, Nakagawa H, Kamoto T, Eto M, Habuchi T, Ogawa O, Momozawa Y, Akamatsu S.
    • Br J Cancer. 2022 Aug 19. doi: 10.1038/s41416-022-01915-2. Epub ahead of print.
    • Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients.
    • Ceyhan-Birsoy O, Jayakumaran G, Kemel Y, Misyura M, Aypar U, Jairam S, Yang C, Li Y, Mehta N, Maio A, Arnold A, Salo-Mullen E, Sheehan M, Syed A, Walsh M, Carlo M, Robson M, Offit K, Ladanyi M, Reis-Filho JS, Stadler ZK, Zhang L, Latham A, Zehir A, Mandelker D.
    • Genome Med. 2022 Aug 15;14(1):92. doi: 10.1186/s13073-022-01101-2.
    • Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment.
    • Yurgelun MB, Uno H, Furniss CS, Ukaegbu C, Horiguchi M, Yussuf A, LaDuca H, Chittenden A, Garber JE, Syngal S.
    • J Clin Oncol. 2022 Aug 12:JCO2200120. doi: 10.1200/JCO.22.00120. Epub ahead of print.

    Commentary:

    Who Should Have Multigene Germline Testing for Hereditary Cancer?

    Research news: Online Tool IDs People With Genetic Mutations Linked to Cancer. (Medscape Oncology)

    • Multi-gene panel testing increases germline predisposing mutations' detection in a cohort of breast/ovarian cancer patients from Southern Italy.
    • Nunziato M, Di Maggio F, Pensabene M, Esposito MV, Starnone F, De Angelis C, Calabrese A, D'Aiuto M, Botti G, De Placido S, D'Argenio V, Salvatore F.
    • Front Med (Lausanne). 2022 Aug 11;9:894358. doi: 10.3389/fmed.2022.894358.
    • Evaluating the Effectiveness of a Telehealth Cancer Genetics Program: A BRCA Pilot Study.
    • Rose E, Hardy MW, Gates R, Stanislaw C, Meisel J, Grinzaid KA.
    • Public Health Genomics. 2022 Aug 9:1-14. doi: 10.1159/000525658. Epub ahead of print.
    • Double heterozygous pathogenic variants prevalence in a cohort of patients with hereditary breast cancer.
    • Megid TBC, Barros-Filho MC, Pisani JP, Achatz MI.
    • Front Oncol. 2022 Aug 8;12:873395. doi: 10.3389/fonc.2022.873395.
    • Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine Patients.
    • Hutchcraft ML, Zhang S, Lin N, Gottschalk GL, Keck JW, Belcher EA, Sears C, Wang C, Liu K, Dietz LE, Pickarski JC, Wei S, Cardarelli R, DiPaola RS, Kolesar JM.
    • J Pers Med. 2022 Aug 8;12(8):1297. doi: 10.3390/jpm12081297.
    • Examining the Diagnostic Yield of Tumour Testing and Qualifying Germline Concordance for Hereditary Cancer Variants in Patients with High-Grade Serous Carcinoma.
    • Goebel EA, Kerkhof J, Dzyubak O, McLachlin CM, McGee J, Sadikovic B.
    • Genes (Basel). 2022 Aug 6;13(8):1398. doi: 10.3390/genes13081398.
    • Significance of the Multi-gene Panel myRisk in Japan.
    • Hayashi S, Kubo M, Matsuzaki S, Kai M, Morisaki T, Yamada M, Kaneshiro K, Takao Y, Shimazaki A, Nagayoshi K, Mizuuchi Y, Nakamura M.
    • Anticancer Res. 2022 Aug;42(8):4097-4102. doi: 10.21873/anticanres.15907.
    • Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels.
    • Sutcliffe EG, Mester JL, Susswein LR, Roberts ME, Marshall ML, Hruska KS.
    • Cancer Genet. 2022 Aug;266-267:86-89. doi: 10.1016/j.cancergen.2022.07.004. Epub 2022 Jul 28.
    • When to use somatic tumor testing in prostate cancer.
    • Friedlander TW.
    • Clin Adv Hematol Oncol. 2022 Aug;20(8):487-489.
    • Challenges in breast cancer genetic testing. A call for novel forms of multidisciplinary care and long-term evaluation.
    • Menko FH, Monkhorst K, Hogervorst FBL, Rosenberg EH, Adank M, Ruijs MWG, Bleiker EMA, Sonke GS, Russell NS, Oldenburg HSA, van der Kolk LE.
    • Crit Rev Oncol Hematol. 2022 Aug;176:103642. doi: 10.1016/j.critrevonc.2022.103642. Epub 2022 Mar 5.
    • Unexpected actionable genetic variants revealed by multigene panel testing of patients with uterine cancer.
    • Heald B, Mokhtary S, Nielsen SM, Rojahn S, Yang S, Michalski ST, Esplin ED.
    • Gynecol Oncol. 2022 Aug;166(2):344-350. doi: 10.1016/j.ygyno.2022.05.023. Epub 2022 Jun 9.
    • Practice guidelines for BRCA1/2 tumour testing in ovarian cancer.
    • Grafodatskaya D, O'Rielly DD, Bedard K, Butcher DT, Howlett CJ, Lytwyn A, McCready E, Parboosingh J, Spriggs EL, Vaags AK, Stockley TL.
    • J Med Genet. 2022 Aug;59(8):727-736. doi: 10.1136/jmedgenet-2021-108238. Epub 2022 Apr 7.
    • Genome Sequencing in the Parkinson Disease Clinic.
    • Hill EJ, Robak LA, Al-Ouran R, Deger J, Fong JC, Vandeventer PJ, Schulman E, Rao S, Saade H, Savitt JM, von Coelln R, Desai N, Doddapaneni H, Salvi S, Dugan-Perez S, Muzny DM, McGuire AL, Liu Z, Gibbs RA, Shaw C, Jankovic J, Shulman LM, Shulman JM.
    • Neurol Genet. 2022 Jun 9 [eCollection 2022 Aug];8(4):e200002. doi: 10.1212/NXG.0000000000200002.
    • Breast cancer in East Africa: Prevalence and spectrum of germline SNV/indel and CNVs in BRCA1 and BRCA2 genes among breast cancer patients in Tanzania.
    • Rweyemamu LP, Gültaslar BK, Akan G, Dharsee N, Namkinga LA, Lyantagaye SL, Yazici H, Atalar F.
    • Cancer Med. 2022 Jul 31. doi: 10.1002/cam4.5091. Epub ahead of print.
    • Whole-genome/exome analysis of circulating tumor DNA and comparison to tumor genomics from patients with heavily pre-treated ovarian cancer: subset analysis of the PERMED-01 trial.
    • Sabatier R, Garnier S, Guille A, Carbuccia N, Pakradouni J, Adelaide J, Provansal M, Cappiello M, Rousseau F, Chaffanet M, Birnbaum D, Mamessier E, Gonçalves A, Bertucci F.
    • Front Oncol. 2022 Jul 29;12:946257. doi: 10.3389/fonc.2022.946257.

    Identifier: NCT02342158: Identifying Molecular Alterations to Guide Individualized Treatment in Advanced Solid Tumors (PERMED01). (ClinicalTrials.gov)

    • Multi-Gene Mutation Profiling by Targeted Next-Generation Sequencing in Premenopausal Breast Cancer.
    • Zografos E, Andrikopoulou A, Papatheodoridi AM, Kaparelou M, Bletsa G, Liontos M, Dimopoulos MA, Zagouri F.
    • Genes (Basel). 2022 Jul 29;13(8):1362. doi: 10.3390/genes13081362.
    • Genetic counselors' experience with reimbursement and patient out-of-pocket cost for multi-cancer gene panel testing for hereditary cancer syndromes.
    • Weldon CB, Trosman JR, Liang SY, Douglas MP, Scheuner MT, Kurian A, Schaa KL, Roscow B, Erwin D, Phillips KA.
    • J Genet Couns. 2022 Jul 28. doi: 10.1002/jgc4.1614. Epub ahead of print.
    • Maintenance therapy for newly diagnosed epithelial ovarian cancer- a review.
    • Nag S, Aggarwal S, Rauthan A, Warrier N.
    • J Ovarian Res. 2022 Jul 28;15(1):88. doi: 10.1186/s13048-022-01020-1.
    • Novel Germline Mutations in a Cohort of Men with Familial Prostate Cancer.
    • Mondschein R, Bolton D, Clouston D, Dowty J, Kavanagh L, Murphy D, Scott P, Taylor RA, Thorne H.
    • Cancers (Basel). 2022 Jul 26;14(15):3623. doi: 10.3390/cancers14153623.
    • Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting.
    • Jürgens H, Roht L, Leitsalu L, Nõukas M, Palover M, Nikopensius T, Reigo A, Kals M, Kallak K, Kütner R, Budrikas K, Kuusk S, Valvere V, Laidre P, Toome K, Rekker K, Tooming M, Ülle Murumets, Kahre T, Kruuv-Käo K, Õunap K, Padrik P, Metspalu A, Esko T, Fischer K, Tõnisson N.
    • Front Genet. 2022 Jul 22;13:881100. doi: 10.3389/fgene.2022.881100.
    • Hereditary Breast Cancer in the Brazilian State of Ceará (The CHANCE Cohort): Higher-Than-Expected Prevalence of Recurrent Germline Pathogenic Variants.
    • Gifoni ACLVC, Gifoni MAC, Wotroba CM, Palmero EI, Costa ELV, Dos Santos W, Achatz MI.
    • Front Oncol. 2022 Jul 22;12:932957. doi: 10.3389/fonc.2022.932957.
    • The Identification by Exome Sequencing of Candidate Genes in BRCA-Negative Tunisian Patients at a High Risk of Hereditary Breast/Ovarian Cancer.
    • BenAyed-Guerfali D, Kifagi C, BenKridis-Rejeb W, Ammous-Boukhris N, Ayedi W, Khanfir A, Daoud J, Mokdad-Gargouri R.
    • Genes (Basel). 2022 Jul 22;13(8):1296. doi: 10.3390/genes13081296.
    • Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.
    • Paduano F, Colao E, Fabiani F, Rocca V, Dinatolo F, Dattola A, D'Antona L, Amato R, Trapasso F, Baudi F, Perrotti N, Iuliano R.
    • Genes (Basel). 2022 Jul 21;13(7):1286. doi: 10.3390/genes13071286.
    • Germline Testing of Patients With Non-small Cell Lung Cancers Demonstrating Incidentally Uncovered BRCA2 Apparent Pathogenic Germline Variants.
    • Sorscher S.
    • Clin Lung Cancer. 2022 Jul 21 [2022 Jul 20]:S1525-7304(22)00163-2. doi: 10.1016/j.cllc.2022.07.011. Epub ahead of print.
    • Comprehensive Genomic Profiling in the Management of Ovarian Cancer-National Results from Croatia.
    • Cerina D, Matkovic V, Katic K, Belac Lovasic I, Šeparovic R, Canjko I, Bajic Ž, Vrdoljak E.
    • J Pers Med. 2022 Jul 19;12(7):1176. doi: 10.3390/jpm12071176.
    • Genetic Testing and Its Clinical Application in Prostate Cancer Management: Consensus Statements from the Hong Kong Urological Association and Hong Kong Society of Uro-Oncology.
    • Chiu PKF, Lee EKC, Chan MTY, Chan WHC, Cheung MH, Lam MHC, Ma ESK, Poon DMC.
    • Front Oncol. 2022 Jul 18;12:962958. doi: 10.3389/fonc.2022.962958.

    •• Commentary:

    Editorial: Prostate Cancer Genomics: Application at Different Stages of a Patient's Journey.

    • Case Report: Next-Generation Sequencing-Based Detection in A Patient with Three Synchronous Primary Tumors.
    • Wu T, Wan J, Xia K, Yang M, Feng L, Yin L, Chen C.
    • Front Oncol. 2022 Jul 15;12:910264. doi: 10.3389/fonc.2022.910264.
    • Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
    • Dumont M, Weber-Lassalle N, Joly-Beauparlant C, Ernst C, Droit A, Feng BJ, Dubois S, Collin-Deschesnes AC, Soucy P, Vallée M, Fournier F, Lemaçon A, Adank MA, Allen J, Altmüller J, Arnold N, Ausems MGEM, Berutti R, Bolla MK, Bull S, Carvalho S, Cornelissen S, Dufault MR, Dunning AM, Engel C, Gehrig A, Geurts-Giele WRR, Gieger C, Green J, Hackmann K, Helmy M, Hentschel J, Hogervorst FBL, Hollestelle A, Hooning MJ, Horváth J, Ikram MA, Kaulfuß S, Keeman R, Kuang D, Luccarini C, Maier W, Martens JWM, Niederacher D, Nürnberg P, Ott CE, Peters A, Pharoah PDP, Ramirez A, Ramser J, Riedel-Heller S, Schmidt G, Shah M, Scherer M, Stäbler A, Strom TM, Sutter C, Thiele H, van Asperen CJ, van der Kolk L, van der Luijt RB, Volk AE, Wagner M, Waisfisz Q, Wang Q, Wang-Gohrke S, Weber BHF, Genome Of The Netherlands Project, Ghs Study Group, Devilee P, Tavtigian S, Bader GD, Meindl A, Goldgar DE, Andrulis IL, Schmutzler RK, Easton DF, Schmidt MK, Hahnen E, Simard J.
    • Cancers (Basel). 2022 Jul 11;14(14):3363. doi: 10.3390/cancers14143363.
    • Pancreatic Ductal Carcinoma Risk Associated with Hereditary Cancer-Risk Genes.
    • Gardiner A, Kidd J, Elias MC, Young K, Mabey B, Taherian N, Cummings S, Malafa M, Rosenthal E, Permuth JB.
    • J Natl Cancer Inst. 2022 Jul 11;114(7):996-1002. doi: 10.1093/jnci/djac069.
    • Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer.
    • Rolfes M, Borde J, Möllenhoff K, Kayali M, Ernst C, Gehrig A, Sutter C, Ramser J, Niederacher D, Horváth J, Arnold N, Meindl A, Auber B, Rump A, Wang-Gohrke S, Ritter J, Hentschel J, Thiele H, Altmüller J, Nürnberg P, Rhiem K, Engel C, Wappenschmidt B, Schmutzler RK, Hahnen E, Hauke J.
    • Cancers (Basel). 2022 Jul 5;14(13):3292. doi: 10.3390/cancers14133292.
    • Germline Pathogenic Variants Impact Clinicopathology of Advanced Lung Cancer.
    • Mukherjee S, Bandlamudi C, Hellmann MD, Kemel Y, Drill E, Rizvi H, Tkachuk K, Khurram A, Walsh MF, Zauderer MG, Mandelker D, Topka S, Zehir A, Srinivasan P, Esai Selvan M, Carlo MI, Cadoo KA, Latham A, Hamilton JG, Liu YL, Lipkin SM, Belhadj S, Bond GL, Gümüs ZH, Klein RJ, Ladanyi M, Solit DB, Robson ME, Jones DR, Kris MG, Vijai J, Stadler ZK, Amos CI, Taylor BS, Berger MF, Rudin CM, Offit K.
    • Cancer Epidemiol Biomarkers Prev. 2022 Jul 1;31(7):1450-1459. doi: 10.1158/1055-9965.EPI-21-1287.
    • Epithelial Ovarian Cancer: Providing Evidence of Predisposition Genes.
    • Shah S, Cheung A, Kutka M, Sheriff M, Boussios S.
    • Int J Environ Res Public Health. 2022 Jul 1;19(13):8113. doi: 10.3390/ijerph19138113.
    • PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina.
    • Gonzalez A, Del Greco F, Vargas-Roig L, Brun B, Tabares G, Mampel A, Montes C, Martin C, Lopez M, Rossi N, Bruno L, Ponce C, Quaglio P, Yanzi A, Acevedo S, Lugo L, Lopez Breccia P, Avila S, Sisterna S, Del Castillo MS, Vazquez M, Nuñez LM.
    • Breast Cancer Res Treat. 2022 Jul;194(2):403-412. doi: 10.1007/s10549-022-06620-5. Epub 2022 May 24.
    • Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region.
    • Elalaoui SC, Laarabi FZ, Afif L, Lyahyai J, Ratbi I, Jaouad IC, Doubaj Y, Sahli M, Ouhenach M, Sefiani A.
    • Breast Cancer Res Treat. 2022 Jul;194(1):187-198. doi: 10.1007/s10549-022-06622-3. Epub 2022 May 17.
    • Genetic testing in prostate cancer management: Considerations informing primary care.
    • Giri VN, Morgan TM, Morris DS, Berchuck JE, Hyatt C, Taplin ME.
    • CA Cancer J Clin. 2022 Jul;72(4):360-371. doi: 10.3322/caac.21720. Epub 2022 Feb 24.
    • The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients.
    • de Oliveira JM, Zurro NB, Coelho AVC, Caraciolo MP, de Alexandre RB, Cervato MC, Minillo RM, de Vasconcelos Carvalho Neto G, Grivicich I, Oliveira JB.
    • Eur J Hum Genet. 2022 Jul;30(7):818-823. doi: 10.1038/s41431-022-01098-7. Epub 2022 May 9.
    • A recurrent pathogenic BRCA2 exon 5-11 duplication in the Christian Arab population in Israel.
    • Reznick Levi G, Larom G, Ofen Glassner V, Ekhilevitch N, Sharon Swartzman N, Paperna T, Baris-Feldman H, Weiss K.
    • Fam Cancer. 2022 Jul;21(3):289-294. doi: 10.1007/s10689-021-00262-0. Epub 2021 May 17.
    • Outcomes of retesting in patients with previously uninformative cancer genetics evaluations.
    • Dettwyler SA, Koeppe ES, Jacobs MF, Stoffel EM.
    • Fam Cancer. 2022 Jul;21(3):375-385. doi: 10.1007/s10689-021-00276-8. Epub 2021 Sep 21. Erratum in: Fam Cancer. 2021 Oct 28.
    • Breast cancer risk stratification in women of screening age: Incremental effects of adding mammographic density, polygenic risk, and a gene panel.
    • Evans DGR, van Veen EM, Harkness EF, Brentnall AR, Astley SM, Byers H, Woodward ER, Sampson S, Southworth J, Howell SJ, Maxwell AJ, Newman WG, Cuzick J, Howell A.
    • Genet Med. 2022 Jul;24(7):1485-1494. doi: 10.1016/j.gim.2022.03.009. Epub 2022 Apr 15.
    • Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study.
    • Ossa Gomez CA, Achatz MI, Hurtado M, Sanabria-Salas MC, Sullcahuaman Y, Chávarri-Guerra Y, Dutil J, Nielsen SM, Esplin ED, Michalski ST, Bristow SL, Hatchell KE, Nussbaum RL, Pineda-Alvarez DE, Ashton-Prolla P.
    • JCO Glob Oncol. 2022 Jul;8:e2200104. doi: 10.1200/GO.22.00104.
    • Germline Aberrations in Pancreatic Cancer: Implications for Clinical Care.
    • Casolino R, Corbo V, Beer P, Hwang CI, Paiella S, Silvestri V, Ottini L, Biankin AV.
    • Cancers (Basel). 2022 Jun 30;14(13):3239. doi: 10.3390/cancers14133239.
    • The Prognostic Significance of Homologous Recombination Repair Pathway Alterations in Metastatic Hormone Sensitive Prostate Cancer.
    • Lee AM, Saidian A, Shaya J, Nonato T, Cabal A, Randall JM, Millard F, Stewart T, Rose B, Tamayo P, McKay RR.
    • Clin Genitourin Cancer. 2022 Jun 30:S1558-7673(22)00141-0. doi: 10.1016/j.clgc.2022.06.016. Epub ahead of print.
    • Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients.
    • Arslan Ates E, Turkyilmaz A, Alavanda C, Yildirim O, Guney AI.
    • Medeni Med J. 2022 Jun 23;37(2):150-158. doi: 10.4274/MMJ.galenos.2022.22556.
    • Psychological and health behaviour outcomes following multi-gene panel testing for hereditary breast and ovarian cancer risk: a mini-review of the literature.
    • Carlsson L, Thain E, Gillies B, Metcalfe K.
    • Hered Cancer Clin Pract. 2022 Jun 22;20(1):25. doi: 10.1186/s13053-022-00229-x.
    • TRACEBACK: Testing of Historical Tubo-Ovarian Cancer Patients for Hereditary Risk Genes as a Cancer Prevention Strategy in Family Members.
    • Delahunty R, Nguyen L, Craig S, Creighton B, Ariyaratne D, Garsed DW, Christie E, Fereday S, Andrews L, Lewis A, Limb S, Pandey A, Hendley J, Traficante N, Carvajal N, Spurdle AB, Thompson B, Parsons MT, Beshay V, Volcheck M, Semple T, Lupat R, Doig K, Yu J, Chen XQ, Marsh A, Love C, Bilic S, Beilin M, Nichols CB, Greer C, Lee YC, Gerty S, Gill L, Newton E, Howard J, Williams R, Norris C, Stephens AN, Tutty E, Smyth C, O'Connell S, Jobling T, Stewart CJR, Tan A, Fox SB, Pachter N, Li J, Ellul J, Mir Arnau G, Young MA, Gordon L, Forrest L, Harris M, Livingstone K, Hill J, Chenevix-Trench G, Cohen PA, Webb PM, Friedlander M, James P, Bowtell D, Alsop K; Australian Ovarian Cancer Study, Ovarian Cancer Prognosis and Lifestyle Study and the TRACEBACK Study.
    • J Clin Oncol. 2022 Jun 20;40(18):2036-2047. doi: 10.1200/JCO.21.02108. Epub 2022 Mar 9.
    • Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan.
    • Akbar F, Siddiqui Z, Waheed MT, Ehsan L, Ali SI, Wiquar H, Valimohammed AT, Khan S, Vohra L, Zeeshan S, Rashid Y, Moosajee M, Jabbar AA, Zahir MN, Zahid N, Soomro R, Ullah NN, Ahmad I, Haider G, Ansari U, Rizvi A, Mehboobali A, Sattar A, Kirmani S.
    • Hered Cancer Clin Pract. 2022 Jun 16;20(1):24. doi: 10.1186/s13053-022-00232-2.
    • Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization.
    • Hol JA, Kuiper RP, van Dijk F, Waanders E, van Peer SE, Koudijs MJ, Bladergroen R, van Reijmersdal SV, Morgado LM, Bliek J, Lombardi MP, Hopman S, Drost J, de Krijger RR, van den Heuvel-Eibrink MM, Jongmans MCJ.
    • J Clin Oncol. 2022 Jun 10;40(17):1892-1902. doi: 10.1200/JCO.21.02510. Epub 2022 Mar 1.

    Research news: Inherited Cancer Risk Detected in Significant Subset of Wilms Tumor Cases. (GenomeWeb)

    • Genomic Signatures from Clinical Tumor Sequencing in Patients with Breast Cancer Having Germline BRCA1/2 Mutation.
    • Kim JW, Kang HE, Choi J, Yun SG, Jung SP, Bae SY, You JY, Choi YJ, Kim YH, Park KH.
    • Cancer Res Treat. 2022 Jun 8. doi: 10.4143/crt.2021.1567. Epub ahead of print.
    • African American Prostate Cancer Patients Get More VUS, Fewer Actionable Results, Studies Show.
    • Anderson A.
    • GenomeWeb. Disease Areas. Cancer. 2022 Jun 7.
    • Validation of AmpliSeq NGS Panel for BRCA1 and BRCA2 Variant Detection in Canine Formalin-Fixed Paraffin-Embedded Mammary Tumors.
    • Di Giacomo D, Di Domenico M, Defourny SVP, Malatesta D, Di Teodoro G, Martino M, Viola A, D'Alterio N, Cammà C, Modesto P, Petrini A.
    • Life (Basel). 2022 Jun 7;12(6):851. doi: 10.3390/life12060851.
    • Germline Mutations in Patients With Early-Onset Prostate Cancer.
    • Tang T, Tan X, Wang Z, Wang S, Wang Y, Xu J, Wei X, Zhang D, Liu Q, Jiang J.
    • Front Oncol. 2022 Jun 6;12:826778. doi: 10.3389/fonc.2022.826778.
    • Are Mutation Carrier Patients Different from Non-Carrier Patients? Genetic, Pathology, and US Features of Patients with Breast Cancer.
    • Pintican RM, Chiorean A, Duma M, Feier D, Szep M, Eniu D, Goidescu I, Dudea S.
    • Cancers (Basel). 2022 Jun 2;14(11):2759. doi: 10.3390/cancers14112759.
    • Application of Multigene Panel Testing In Patients With High Risk for Hereditary Colorectal Cancer: A Descriptive Report Focused On Genotype-Phenotype Correlation.
    • Park JS, Park JW, Shin S, Lee ST, Shin SJ, Min BS, Park SJ, Park JJ, Cheon JH, Kim WH, Kim TI.
    • Dis Colon Rectum. 2022 Jun 1;65(6):793-803. doi: 10.1097/DCR.0000000000002039. Epub 2022 May 3.
    • Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil.
    • Felix GES, Guindalini RSC, Zheng Y, Walsh T, Sveen E, Lopes TMM, Côrtes J, Zhang J, Carôzo P, Santos I, Bonfim TF, Garicochea B, Toralles MBP, Meyer R, Netto EM, Abe-Sandes K, King MC, de Oliveira Nascimento IL, Olopade OI.
    • Breast Cancer Res Treat. 2022 Jun;193(2):485-494. doi: 10.1007/s10549-022-06560-0. Epub 2022 Mar 30.
    • Hereditary Cancer Gene Variants in Hispanic Men With a Personal or Family History of Prostate Cancer.
    • Ramamurthy C, Stutz EW, Goros M, Gelfond J, Johnson-Pais TL, Thompson IM Jr, Leach RJ, Liss MA.
    • Clin Genitourin Cancer. 2022 Jun;20(3):237-243. doi: 10.1016/j.clgc.2022.01.008. Epub 2022 Jan 14.
    • Should We Test Cancer Susceptibility Genes in Routinely Used Multigene Panels? A Case of Synchronous Lung Adenocarcinoma and Breast Cancer Associated With Germline CHEK2 Mutation.
    • Federico AD, Gelsomino F, De Biase D, Ardizzoni A.
    • Clin Lung Cancer. 2022 Jun;23(4):e283-e284. doi: 10.1016/j.cllc.2021.09.011. Epub 2021 Oct 10.
    • Letter, Case report

    Case report:

    The Common Thread: A Case of Synchronous Lung Cancers and a Germline CHEK2 Mutation.

    • Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.
    • Lee DJ, Hausler R, Le AN, Kelly G, Powers J, Ding J, Feld E, Desai H, Morrison C, Doucette A, Gabriel P, Genetics Center R, Judy RL, Weaver J, Kember R, Damrauer SM, Rader DJ, Domchek SM, Narayan V, Schwartz LE, Maxwell KN.
    • Eur Urol. 2022 Jun;81(6):559-567. doi: 10.1016/j.eururo.2021.09.029. Epub 2021 Oct 25.
    • Laboratory-related outcomes from integrating an accessible delivery model for hereditary cancer risk assessment and genetic testing in populations with barriers to access.
    • Amendola LM, Shuster E, Leo MC, Dorschner MO, Rolf BA, Shirts BH, Gilmore MJ, Okuyama S, Zepp JM, Kauffman TL, Mittendorf KF, Bellcross C, Jenkins CL, Joseph G, Riddle L, Syngal S, Ukaegbu C, Goddard KAB, Wilfond BS, Jarvik GP; CHARM Study.
    • Genet Med. 2022 Jun;24(6):1196-1205. doi: 10.1016/j.gim.2022.02.006. Epub 2022 Mar 16.
    • Utility of germline multi-gene panel testing in patients with endometrial cancer.
    • Karpel HC, Chern JY, Smith J M, Smith A J, Pothuri B.
    • Gynecol Oncol. 2022 Jun;165(3):546-551. doi: 10.1016/j.ygyno.2022.04.003. Epub 2022 Apr 26.
    • RAD51B Harbors Germline Mutations Associated With Pancreatic Ductal Adenocarcinoma.
    • Xie F, Ding D, Lin C, Cunningham D, Wright M, Javed AA, Azad N, Lee V, Donehower R, De Jesus-Acosta A, Le DT, Pishvaian M, Shin EJ, Lennon AM, Khashab M, Singh V, Klein AP, Roberts NJ, Hacker-Prietz A, McPhaul T, Burkhart RA, Burns WR, Narang A, Zaheer A, Fishman EK, Thompson ED, Anders R, Yu J, He J, Wolfgang CL, Zheng L, Liu D, Wu K, Laheru DA.
    • JCO Precis Oncol. 2022 Jun;6:e2100404. doi: 10.1200/PO.21.00404.
    • Present status of germline findings in precision medicine for Japanese cancer patients: issues in the current system.
    • Higashigawa S, Matsubayashi H, Kiyozumi Y, Kado N, Nishimura S, Oishi T, Sugino T, Fushiki K, Shirasu H, Yasui H, Mamesaya N, Fukuzaki N, Kunitomo K, Horiuchi Y, Kenmotsu H, Serizawa M.
    • Jpn J Clin Oncol. 2022 May 31;52(6):599-608. doi: 10.1093/jjco/hyac046.
    • OncoPan®: An NGS-Based Screening Methodology to Identify Molecular Markers for Therapy and Risk Assessment in Pancreatic Ductal Adenocarcinoma.
    • Tibiletti MG, Carnevali I, Pensotti V, Chiaravalli AM, Facchi S, Volorio S, Mariette F, Mariani P, Fortuzzi S, Pierotti MA, Sessa F.
    • Biomedicines. 2022 May 23;10(5):1208. doi: 10.3390/biomedicines10051208.
    • Genomic features of Chinese small cell lung cancer.
    • Liu J, Zhao Z, Wei S, Li B, Zhao Z.
    • BMC Med Genomics. 2022 May 20;15(1):117. doi: 10.1186/s12920-022-01255-3.
    • Prevalence of Germline Findings Among Tumors From Cancer Types Lacking Hereditary Testing Guidelines.
    • Yap TA, Ashok A, Stoll J, Mauer E, Nepomuceno VM, Blackwell KL, Garber JE, Meric-Bernstam F.
    • JAMA Netw Open. [2022 May 20];5(5):e2213070. doi: 10.1001/jamanetworkopen.2022.13070.

    Commentary:

    Paired Tumor-Germline Testing as a Driver in Better Cancer Care.

    • The highest frequency of BRCA1 c.3700_3704del detected among Albanians from Kosovo.
    • Kostovska IM, Jakovchevska S, Özdemir MJ, Kiprijanovska S, Kubelka-Sabit K, Jasar D, Iljovska M, Lazareva E, Smichkoska S, Plaseska-Karanfilska D.
    • Rep Pract Oncol Radiother. 2022 May 19;27(2):303-309. doi: 10.5603/RPOR.a2022.0030.
    • Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
    • Dorling L, Carvalho S, Allen J, Parsons MT, Fortuno C, González-Neira A, Heijl SM, Adank MA, Ahearn TU, Andrulis IL, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bogdanova NV, Bojesen SE, Bolla MK, Bremer M, Briceno I, Camp NJ, Campbell A, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G; NBCS Collaborators, Collée JM, Czene K, Dennis J, Dörk T, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Gabrielson M, Gago-Dominguez M, García-Closas M, Giles GG, Glendon G, Guénel P, Gündert M, Hadjisavvas A, Hahnen E, Hall P, Hamann U, Harkness EF, Hartman M, Hogervorst FBL, Hollestelle A, Hoppe R, Howell A; kConFab Investigators; SGBCC Investigators, Jakubowska A, Jung A, Khusnutdinova E, Kim SW, Ko YD, Kristensen VN, Lakeman IMM, Li J, Lindblom A, Loizidou MA, Lophatananon A, Lubinski J, Luccarini C, Madsen MJ, Mannermaa A, Manoochehri M, Margolin S, Mavroudis D, Milne RL, Mohd Taib NA, Muir K, Nevanlinna H, Newman WG, Oosterwijk JC, Park SK, Peterlongo P, Radice P, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Sim X, Southey MC, Surowy H, Suvanto M, Tomlinson I, Torres D, Truong T, van Asperen CJ, Waltes R, Wang Q, Yang XR, Pharoah PDP, Schmidt MK, Benitez J, Vroling B, Dunning AM, Teo SH, Kvist A, de la Hoya M, Devilee P, Spurdle AB, Vreeswijk MPG, Easton DF.
    • Genome Med. 2022 May 18;14(1):51. doi: 10.1186/s13073-022-01052-8.
    • Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients.
    • Espinel W, Champine M, Hampel H, Jeter J, Sweet K, Pilarski R, Pearlman R, Shane K, Brock P, Westman JA, Kipnis L, Sotelo J, Chittenden A, Culver S, Stopfer JE, Schneider KA, Sacca R, Koeller DR, Gaonkar S, Vaccari E, Kane S, Michalski ST, Yang S, Nielsen SM, Bristow SL, Lincoln SE, Nussbaum RL, Esplin ED.
    • Cancers (Basel). 2022 May 13;14(10):2426. doi: 10.3390/cancers14102426.
    • Whole-Genome Sequencing Identifies PPARGC1A as a Putative Modifier of Cancer Risk in BRCA1/2 Mutation Carriers.
    • Zhu Q, Wang J, Yu H, Hu Q, Bateman NW, Long M, Rosario S, Schultz E, Dalgard CL, Wilkerson MD, Sukumar G, Huang RY, Kaur J, Lele SB, Zsiros E, Villella J, Lugade A, Moysich K, Conrads TP, Maxwell GL, Odunsi K.
    • Cancers (Basel). 2022 May 10;14(10):2350. doi: 10.3390/cancers14102350.
    • Spectrum and frequency of CHEK2 variants in breast cancer affected and general population in the Baltic states region, initial results and literature review.
    • Pavlovica K, Irmejs A, Noukas M, Palover M, Kals M, Tonisson N, Metspalu A, Gronwald J, Lubinski J, Murmane D, Kalnina A, Loza P, Maksimenko J, Trofimovics G, Subatniece S, Daneberga Z, Miklasevics E, Gardovskis J.
    • Eur J Med Genet. 2022 May;65(5):104477. doi: 10.1016/j.ejmg.2022.104477. Epub 2022 Mar 18.
    • Germline pathogenic variants in unselected Korean men with prostate cancer.
    • So MK, Ahn HK, Huh J, Kim KH.
    • Investig Clin Urol. 2022 May;63(3):294-300. doi: 10.4111/icu.20220044.
    • Germline Variant Spectrum Among African American Men Undergoing Prostate Cancer Germline Testing: Need for Equity in Genetic Testing.
    • Giri VN, Hartman R, Pritzlaff M, Horton C, Keith SW.
    • JCO Precis Oncol. 2022 May;6(1):e2200234. doi: 10.1200/PO.22.00234.
    • Hereditary gynecologic tumors and precision cancer medicine.
    • Ogawa C, Hirasawa A, Ida N, Nakamura K, Masuyama H.
    • J Obstet Gynaecol Res. 2022 May;48(5):1076-1090. doi: 10.1111/jog.15197. Epub 2022 Feb 28.
    • Review
    • Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.
    • Molina-Zayas M, Garrido-Navas C, García-Puche JL, Barwell J, Pedrinaci S, Atienza MM, García-Linares S, de Haro-Muñoz T, Lorente JA, Serrano MJ, Poyatos-Andújar A.
    • Mol Genet Genomics. 2022 May;297(3):859-871. doi: 10.1007/s00438-022-01891-5. Epub 2022 Apr 22.
    • The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population.
    • Alenezi WM, Milano L, Fierheller CT, Serruya C, Revil T, Oros KK, Behl S, Arcand SL, Nayar P, Spiegelman D, Gravel S, Mes-Masson AM, Provencher D, Foulkes WD, El Haffaf Z, Rouleau G, Bouchard L, Greenwood CMT, Masson JY, Ragoussis J, Tonin PN.
    • Cancers (Basel). 2022 Apr 30;14(9):2251. doi: 10.3390/cancers14092251.
    • Incomplete Penetrance of Population-Based Genetic Screening Results in Electronic Health Record.
    • Elhanan G, Kiser D, Neveux I, Dabe S, Bolze A, Metcalf WJ, Lu JT, Grzymski JJ.
    • Front Genet. 2022 Apr 27;13:866169. doi: 10.3389/fgene.2022.866169.
    • Whole-Exome Sequencing of Germline Variants in Non-BRCA Families with Hereditary Breast Cancer.
    • Liu Y, Helgadottir HT, Kharaziha P, Choi J, López-Giráldez F, Mane SM, Höiom V, Juhlin CC, Larsson C, Bajalica-Lagercrantz S.
    • Biomedicines. 2022 Apr 26;10(5):1004. doi: 10.3390/biomedicines10051004.
    • Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants.
    • Alenezi WM, Fierheller CT, Revil T, Serruya C, Mes-Masson AM, Foulkes WD, Provencher D, El Haffaf Z, Ragoussis J, Tonin PN.
    • Genes (Basel). 2022 Apr 15;13(4):697. doi: 10.3390/genes13040697.
    • Germline Mutational Landscape in Chinese Patients With Advanced Breast Cancer.
    • Zhang J, Wang N, Zheng T, Lu T, Zhang R, Ran R, Li K, Huang Y, Xie F, Zhang Y, Jia S, Yu J, Li H.
    • Front Oncol. 2022 Apr 13;12:745796. doi: 10.3389/fonc.2022.745796.
    • Evaluation of a Four-Gene Panel for Hereditary Cancer Risk Assessment.
    • Secondino A, Starnone F, Veneruso I, Di Tella MA, Conato S, De Angelis C, De Placido S, D'Argenio V.
    • Genes (Basel). 2022 Apr 13;13(4):682. doi: 10.3390/genes13040682.
    • The Impact of BRCA Status on Therapy Choices.
    • Schapira L, Tung N.
    • Medscape. 2022 Apr 12.
    • Cost-Effectiveness of Genetic Testing for All Women Diagnosed with Breast Cancer in China.
    • Sun L, Cui B, Wei X, Sadique Z, Yang L, Manchanda R, Legood R.
    • Cancers (Basel). 2022 Apr 6;14(7):1839. doi: 10.3390/cancers14071839.
    • Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily.
    • Stella S, Vitale SR, Martorana F, Massimino M, Pavone G, Lanzafame K, Bianca S, Barone C, Gorgone C, Fichera M, Manzella L.
    • Cancer Manag Res. 2022 Apr 5;14:1341-1352. doi: 10.2147/CMAR.S348529.
    • Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland.
    • Jasiewicz A, Rudnicka H, Kluzniak W, Gronwald W, Kluz T, Cybulski C, Jakubowska A, Lubinski J, Gronwald J.
    • Hered Cancer Clin Pract. 2022 Apr 5;20(1):12. doi: 10.1186/s13053-022-00219-z.
    • Development of an Open Database of Genes Included in Hereditary Cancer Genetic Testing Panels Available From Major Sources in the US.
    • Geary J, Majumder M, Guerrini C, Cook-Deegan R.
    • JAMA Oncol. 2022 Apr 1;8(4):1-3. doi: 10.1001/jamaoncol.2021.7639.
    • Consensus Recommendations of the German Consortium for Hereditary Breast and Ovarian Cancer.
    • Rhiem K, Auber B, Briest S, Dikow N, Ditsch N, Dragicevic N, Grill S, Hahnen E, Horvath J, Jaeger B, Kast K, Kiechle M, Leinert E, Morlot S, Püsken M, Schäfer D, Schott S, Schroeder C, Siebers-Renelt U, Solbach C, Weber-Lassalle N, Witzel I, Zeder-Göß C, Schmutzler RK.
    • Breast Care (Basel). 2022 Apr;17(2):199-207. doi: 10.1159/000516376. Epub 2021 Jul 19.
    • Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey.
    • Bora E, Caglayan AO, Koc A, Cankaya T, Ozkalayci H, Kocabey M, Kemer D, Aksoy S, Alicikus ZA, Akin IB, Durak MG, Gurel D, Yavuzsen T, Sevinc A, Somali I, Gorken I, Balci P, Karaoglu A, Saydam S, Ulgenalp A.
    • Cancer Genet. 2022 Apr;262-263:118-133. doi: 10.1016/j.cancergen.2022.02.006. Epub 2022 Feb 16.
    • Germline pathogenic variants in cancer risk genes among patients with thyroid cancer and suspected predisposition.
    • Kamihara J, Zhou J, LaDuca H, Wassner AJ, Dalton E, Garber JE, Black MH.
    • Cancer Med. 2022 Apr;11(8):1745-1752. doi: 10.1002/cam4.4549. Epub 2022 Feb 17.
    • Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance.
    • Castillo-Guardiola V, Rosado-Jiménez L, Sarabia-Meseguer MD, Marín-Vera M, Macías-Cerrolaza JA, García-Hernández R, Zafra-Poves M, Sánchez-Henarejos P, Moreno-Locubiche MÁ, Cuevas-Tortosa E, Arnaldos-Carrillo M, Ayala de la Peña F, Alonso-Romero JL, Noguera-Velasco JA, Ruiz-Espejo F.
    • Eur J Med Genet. 2022 Apr;65(4):104468. doi: 10.1016/j.ejmg.2022.104468. Epub 2022 Mar 1.
    • Recurring pathogenic variants in the BRCA2 gene in the Ethiopian Jewish population. Founder mutations?
    • Ludman MD, Philipsborn SL, Hartmajer S, Shwartzman NS, Reinstein E.
    • Fam Cancer. 2022 Apr;21(2):121-123. doi: 10.1007/s10689-021-00255-z. Epub 2022 Feb 15.
    • Extended gene panel testing in lobular breast cancer.
    • van Veen EM, Evans DG, Harkness EF, Byers HJ, Ellingford JM, Woodward ER, Bowers NL, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ.
    • Fam Cancer. 2022 Apr;21(2):129-136. doi: 10.1007/s10689-021-00241-5. Epub 2021 Mar 25.
    • "I wish that there was more info": characterizing the uncertainty experienced by carriers of pathogenic ATM and/or CHEK2 variants.
    • Reyes KG, Clark C, Gerhart M, Newson AJ, Ormond KE.
    • Fam Cancer. 2022 Apr;21(2):143-155. doi: 10.1007/s10689-021-00251-3. Epub 2021 Apr 15.
    • Association Between Genetic Testing for Hereditary Breast Cancer and Contralateral Prophylactic Mastectomy Among Multiethnic Women Diagnosed With Early-Stage Breast Cancer.
    • Ro V, McGuinness JE, Guo B, Trivedi MS, Jones T, Chung WK, Rao R, Levinson E, Koval C, Russo D, Chilton I, Kukafka R, Crew KD.
    • JCO Oncol Pract. 2022 Apr;18(4):e472-e483. doi: 10.1200/OP.21.00322. Epub 2021 Oct 27.
    • Uptake of genetic counseling and multi-gene panel testing among women in the Intermountain West with previous negative BRCA1 and BRCA2 results contacted for updated testing.
    • Mooney R, Espinel W, Elrick A, Kehoe K, Kohlmann W, Kaphingst KA.
    • J Genet Couns. 2022 Apr;31(2):470-478. doi: 10.1002/jgc4.1513. Epub 2021 Sep 27.
    • Importance of multigene panel test in patients with consanguineous marriage and family history of breast cancer.
    • Ozmen V, Caglayan AO, Yararbas K, Ordu C, Aktepe F, Ozmen T, Ilgun AS, Soybir G, Alco G, Tsaousis GN, Papadopoulou E, Agiannitopoulos K, Pepe G, Kampouri S, Nasioulas G, Sezgin E, Soran A.
    • Oncol Lett. 2022 Apr;23(4):118. doi: 10.3892/ol.2022.13238. Epub 2022 Feb 9.
    • Clinical Utility of Liquid Biopsy to Identify Genomic Heterogeneity and Secondary Cancer Diagnoses: A Case Report.
    • Hemenway G, Tierno MB, Nejati R, Sosa R, Zibelman M.
    • Case Rep Oncol. 2022 Feb 7 [eCollection Jan-Apr 2022];15(1):78-85. doi: 10.1159/000521841.
    • Genetic Analysis of a Family with Multiple Incidences of Prostate Cancer.
    • Feng N, Liu F, Xu X, Wang Y, Sheng Q, Zhu K.
    • Case Rep Oncol. 2022 Feb 7 [eCollection Jan-Apr 2022];15(1):86-90. doi: 10.1159/000521122.
    • Next Generation Sequencing and Molecular Biomarkers in Ovarian Cancer-An Opportunity for Targeted Therapy.
    • Harbin LM, Gallion HH, Allison DB, Kolesar JM.
    • Diagnostics (Basel). 2022 Mar 29;12(4):842. doi: 10.3390/diagnostics12040842.
    • Rates of Variants of Uncertain Significance Among Patients With Breast Cancer Undergoing Genetic Testing: Regional Perspectives.
    • Abdel-Razeq H, Tamimi F, Abujamous L, Abdel-Razeq R, Abunasser M, Edaily S, Abdulelah H, Khashabeh RA, Bater R.
    • Front Oncol. 2022 Mar 25;12:673094. doi: 10.3389/fonc.2022.673094.
    • Cancer Risk Variants Found in Significant Subset of Sarcoma Patient Germlines.
    • [No author given]
    • GenomeWeb. Disease Areas. Cancer. 2022 Mar 25.
    • Germline Variants in Cancer Genes from Young Breast Cancer Mexican Patients.
    • Gómez-Flores-Ramos L, Barraza-Arellano AL, Mohar A, Trujillo-Martínez M, Grimaldo L, Ortiz-Lopez R, Treviño V.
    • Cancers (Basel). 2022 Mar 24;14(7):1647. doi: 10.3390/cancers14071647.
    • Ambry Genetics Data Suggests RNA-seq Can Boost Variant Interpretation in Understudied Ethnic Groups.
    • [No author given]
    • GenomeWeb. Disease Areas. Cancer. 2022 Mar 24.
    • Tumor BRCA Testing in Epithelial Ovarian Cancers: Past and Future-Five-Years' Single-Institution Experience of 762 Consecutive Patients.
    • Fumagalli C, Betella I, Rappa A, di Giminiani M, Gaiano M, De Vitis LA, Zambetti B, Vacirca D, Multinu F, Venetis K, Colombo N, Barberis M, Guerini Rocco E.
    • Cancers (Basel). 2022 Mar 23;14(7):1638. doi: 10.3390/cancers14071638.
    • Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics.
    • Bychkovsky BL, Lo MT, Yussuf A, Horton C, Richardson M, LaDuca H, Garber JE, Rana HQ.
    • Cancer. 2022 Mar 15;128(6):1275-1283. doi: 10.1002/cncr.34056. Epub 2021 Dec 7.
    • Germline mutation landscape of DNA damage repair genes in African Americans with prostate cancer highlights potentially targetable RAD genes.
    • Kohaar I, Zhang X, Tan SH, Nousome D, Babcock K, Ravindranath L, Sukumar G, Mcgrath-Martinez E, Rosenberger J, Alba C, Ali A, Young D, Chen Y, Cullen J, Rosner IL, Sesterhenn IA, Dobi A, Chesnut G, Turner C, Dalgard C, Wilkerson MD, Pollard HB, Srivastava S, Petrovics G.
    • Nat Commun. 2022 Mar 15;13(1):1361. doi: 10.1038/s41467-022-28945-x.
    • Myriad Genetics Launches New Comprehensive Suite of Cancer Tests With Research Registry.
    • Ray T.
    • GenomeWeb. Business & Policy. Business News. 2022 Mar 14.
    • News

    Press Release: Myriad Genetics Advances Precision Oncology with New Precise™ Solutions, Combines Genetic Insights from Multiple Tests to Guide Treatment Decisions and Improve Patient Care. (Myriad Genetics)

    • New Myriad Product Combines Multiple Cancer Tests.
    • [No author given]
    • Inside Precision Medicine. Topics. Oncology. 2022 Mar 14.

    Press Release: Myriad Genetics Advances Precision Oncology with New Precise™ Solutions, Combines Genetic Insights from Multiple Tests to Guide Treatment Decisions and Improve Patient Care. (Myriad Genetics)

    • Real-World Data on Detection of Germline and Somatic Pathogenic/Likely Pathogenic Variants in BRCA1/2 and Other Susceptibility Genes in Ovarian Cancer Patients Using Next Generation Sequencing.
    • Stegel V, Blatnik A, Škof E, Dragoš VŠ, Krajc M, Gregoric B, Škerl P, Strojnik K, Klancar G, Banjac M, Žgajnar J, Ravnik M, Novakovic S.
    • Cancers (Basel). 2022 Mar 10;14(6):1434. doi: 10.3390/cancers14061434.
    • Germline Mutation Analysis in Sporadic Breast Cancer Cases With Clinical Correlations.
    • Ajaz S, Zaidi SE, Ali S, Siddiqa A, Memon MA.
    • Front Genet. 2022 Mar 9;13:820610. doi: 10.3389/fgene.2022.820610.
    • Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
    • Guindalini RSC, Viana DV, Kitajima JPFW, Rocha VM, López RVM, Zheng Y, Freitas É, Monteiro FPM, Valim A, Schlesinger D, Kok F, Olopade OI, Folgueira MAAK.
    • Sci Rep. 2022 Mar 9;12(1):4190. doi: 10.1038/s41598-022-07383-1.
    • The Clinical Utility and Impact of Next Generation Sequencing in Gynecologic Cancers.
    • Maruthi VK, Khazaeli M, Jeyachandran D, Desouki MM.
    • Cancers (Basel). 2022 Mar 7;14(5):1352. doi: 10.3390/cancers14051352.
    • [Application of next-generation sequencing in detection of BRCA1/2 and homologous recombination repair pathway multi-genes germline mutation and correlation analysis].
    • Chen YL, Zhuo ZL, Liu C, Xie F, Yang ZY, Liu PF, Wang S, Zhao XT.
    • Zhonghua Yu Fang Yi Xue Za Zhi. 2022 Mar 6;56(3):302-311. Chinese. doi: 10.3760/cma.j.cn112150-20211208-01132.
    • [Article in Chinese]
    • Sequencing of BRCA1/2-alterations using NGS-based technology: annotation as a challenge.
    • Ebner S, Winkelmann R, Martin S, Köllermann J, Wild PJ, Demes M.
    • Oncotarget. 2022 Mar 3;13:464-475. doi: 10.18632/oncotarget.28213.
    • Clinician-Reported Impact of Germline Multigene Panel Testing on Cancer Risk Management Recommendations.
    • Horton C, Blanco K, Lo MT, Speare V, LaDuca H, Dolinsky JS, Kurian AW.
    • JNCI Cancer Spectr. 2022 Mar 2;6(2):pkac002. doi: 10.1093/jncics/pkac002.
    • Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2-negative individuals who had genetic testing in a large urban comprehensive cancer center.
    • Tatineni S, Tarockoff M, Abdallah N, Purrington KS, Assad H, Reagle R, Petrucelli N, Simon MS.
    • Cancer Med. 2022 Mar;11(6):1465-1473. doi: 10.1002/cam4.4541. Epub 2022 Jan 17.
    • Next-generation sequencing of endoscopically obtained tissues from patients with all stages of pancreatic cancer.
    • Takano S, Fukasawa M, Shindo H, Takahashi E, Fukasawa Y, Kawakami S, Hayakawa H, Kuratomi N, Kadokura M, Yamaguchi T, Inoue T, Maekawa S, Enomoto N.
    • Cancer Sci. 2022 Mar;113(3):1069-1077. doi: 10.1111/cas.15249. Epub 2022 Jan 10.
    • Therapeutic implications of germline vulnerabilities in DNA repair for precision oncology.
    • Shah SM, Demidova EV, Lesh RW, Hall MJ, Daly MB, Meyer JE, Edelman MJ, Arora S.
    • Cancer Treat Rev. 2022 Mar;104:102337. doi: 10.1016/j.ctrv.2021.102337. Epub 2022 Jan 5.
    • Exome sequencing identifies RASSF1 and KLK3 germline variants in an Iranian multiple-case breast cancer family.
    • Radmanesh H, Liu D, Geffers R, Shandiz FH, Sadr-Nabavi A, Hillemanns P, Park-Simon TW, Dörk T.
    • Eur J Med Genet. 2022 Mar;65(3):104425. doi: 10.1016/j.ejmg.2022.104425. Epub 2022 Jan 13.
    • Case report
    • The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort.
    • Johnston JJ, Brennan ML, Radenbaugh B, Yoo SJ, Hernandez SM; NHGRI Reverse Phenotyping Core, Lewis KL, Katz AE, Manolio TA, Biesecker LG.
    • Genet Med. 2022 Mar;24(3):736-743. doi: 10.1016/j.gim.2021.11.012. Epub 2021 Nov 18.
    • Safety, Feasibility, and Merits of Longitudinal Molecular Testing of Multiple Metastatic Sites to Inform mTNBC Patient Treatment in the Intensive Trial of Omics in Cancer.
    • Burton KA, Mahen E, Konnick EQ, Blau S, Dorschner MO, Ramirez AB, Schmechel SC, Song C, Parulkar R, Parker S, Senecal FM, Pritchard CC, Mecham BH, Szeto C, Spilman P, Zhu J, Gadi VK, Ronen R, Stilwell J, Kaldjian E, Dutkowski J, Benz SC, Rabizadeh S, Soon-Shiong P, Blau CA.
    • JCO Precis Oncol. 2022 Mar;6:e2100280. doi: 10.1200/PO.21.00280.
    • DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.
    • Liu J, Zhao H, Zheng Y, Dong L, Zhao S, Huang Y, Huang S, Qian T, Zou J, Liu S, Li J, Yan Z, Li Y, Zhang S, Huang X, Wang W, Li Y, Wang J, Ming Y, Li X, Xing Z, Qin L, Zhao Z, Jia Z, Li J, Liu G, Zhang M, Feng K, Wu J, Zhang J, Yang Y, Wu Z, Liu Z, Ying J, Wang X, Su J, Wang X, Wu N.
    • Genome Med. 2022 Feb 25;14(1):21. doi: 10.1186/s13073-022-01027-9.
    • Genetic Testing Challenges in Oncology: Muddled Reporting, Interpretation of PALB2 VUS.
    • Ray T.
    • Precision Oncology News. Cancer Specialties. 2022 Feb 23.
    • Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria.
    • Andoni T, Wiggins J, Robinson R, Charlton R, Sandberg M, Eeles R.
    • Sci Rep. 2022 Feb 21. doi: 10.1038/s41598-022-06376-4. [Epub ahead of print]

    Research news: NHS gene testing misses half of people at risk of cancer, study warns. (Sky News)

    • Clinical Management of Prostate Cancer in High-Risk Genetic Mutation Carriers.
    • Clark R, Herrera-Caceres J, Kenk M, Fleshner N.
    • Cancers (Basel). 2022 Feb 16;14(4):1004. doi: 10.3390/cancers14041004.
    • Association between 15 known or potential breast cancer susceptibility genes and breast cancer risks in Chinese women.
    • Fu F, Zhang D, Hu L, Sundaram S, Ying D, Zhang Y, Fu S, Zhang J, Yao L, Xu Y, Xie Y.
    • Cancer Biol Med. 2021 Oct 5 [2022 Feb 15];19(2):253–62. doi: 10.20892/j.issn.2095-3941.2021.0358. Epub ahead of print.
    • Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt-Hogg-Dubè Syndrome Family.
    • Bandini E, Cangini I, Arcangeli V, Ravegnani M, Andreotti V, Prisinzano G, Pastorino L, Martinelli G, Falcini F, Calistri D, Zampiga V, Danesi R.
    • Front Oncol. 2022 Feb 14;12:835346. doi: 10.3389/fonc.2022.835346.
    • Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation.
    • Vietri MT, D'Elia G, Caliendo G, Albanese L, Signoriello G, Napoli C, Molinari AM.
    • Genes (Basel). 2022 Feb 9;13(2):321. doi: 10.3390/genes13020321.
    • Germline Cancer Testing in Unselected Patients with Gastric and Esophageal Cancers: A Multi-center Prospective Study.
    • Uson PLS Jr, Kunze KL, Golafshar MA, Botrus G, Riegert-Johnson D, Boardman L, Borad MJ, Ahn D, Sonbol MB, Kahn A, Klint M, Esplin ED, Nussbaum RL, Stewart AK, Bekaii-Saab T, Samadder NJ.
    • Dig Dis Sci. 2022 Feb 5. doi: 10.1007/s10620-022-07387-x. Epub ahead of print.
    • Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.
    • Yao Q, Liu Y, Zhang L, Dong L, Bao L, Bai Q, Cui Q, Xu J, Li M, Liu J, Chuai S, Ying J, Zhang Z, Zhou X.
    • Front Oncol. 2022 Feb 3;12:709645. doi: 10.3389/fonc.2022.709645.
    • Next Generation Sequencing is a Reliable Tool for Detecting BRCA1/2 Mutations, Including Large Genomic Rearrangements.
    • Lee JH, Ryoo NH, Ha JS, Park S, Kim KB, Hee KS, Kim DH.
    • Clin Lab. 2022 Feb 1;68(2). doi: 10.7754/Clin.Lab.2021.210609.
    • Should all patients undergoing genetic testing for hereditary breast cancer syndromes be offered a multigene panel?
    • Silver EL, Niell-Swiller M.
    • Curr Opin Obstet Gynecol. 2022 Feb 1;34(1):36-40. doi: 10.1097/GCO.0000000000000764.
    • Review
    • ASO Author Reflections: Germline Testing for All Patients With Breast Cancer: Has the Time Finally Come?
    • Mittal A, Pramanik R.
    • Ann Surg Oncol. 2022 Feb;29(2):1433-1434. doi: 10.1245/s10434-021-10880-8. Epub 2021 Oct 15.
    • The detection of germline and somatic BRCA1/2 genetic variants through parallel testing of patients with high-grade serous ovarian cancer: a national retrospective audit.
    • Frugtniet B, Morgan S, Murray A, Palmer-Smith S, White R, Jones R, Hanna L, Fuller C, Hudson E, Mullard A, Quinton AE.
    • BJOG. 2022 Feb;129(3):433-442. doi: 10.1111/1471-0528.16975. Epub 2021 Nov 8.

    Commentary:

    Gene sequencing in ovarian cancer: continually moving targets.

    Commentary:

    A commentary on the discrepancy between blood and tumour BRCA testing: An open question.

    • An overview of genetic services delivery for hereditary breast cancer.
    • Reid S, Spalluto LB, Lang K, Weidner A, Pal T.
    • Breast Cancer Res Treat. 2022 Feb;191(3):491-500. doi: 10.1007/s10549-021-06478-z. Epub 2022 Jan 26.
    • When to use germline genetic testing in prostate cancer.
    • Giri VN.
    • Clin Adv Hematol Oncol. 2022 Feb;20(2):78-81.
    • Update Breast Cancer 2021 Part 4 - Prevention and Early Stages.
    • Thomssen C, Fehm TN, Stickeler E, Fasching PA, Janni W, Kolberg-Liedtke C, Kolberg HC, Lüftner D, Müller V, Schütz F, Belleville E, Bader S, Untch M, Welslau M, Thill M, Hartkopf AD, Tesch H, Ditsch N, Lux MP, Wöckel A, Aktas B, Schneeweiss A, Würstlein R.
    • Geburtshilfe Frauenheilkd. 2022 Feb 11 [eCollection 2022 Feb];82(2):206-214. doi: 10.1055/a-1724-9639.
    • Hereditary cancer panel testing challenges and solutions for the latinx community: costs, access, and variants.
    • Douglas MP, Lin GA, Trosman JR, Phillips KA.
    • J Community Genet. 2022 Feb;13(1):75-80. doi: 10.1007/s12687-021-00563-y. Epub 2021 Nov 6.
    • High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
    • Evans DG, van Veen EM, Byers HJ, Evans SJ, Burghel GJ, Woodward ER, Harkness EF, Eccles DM, Greville-Haygate SL, Ellingford JM, Bowers NL, Pereira M, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ.
    • J Med Genet. 2022 Feb;59(2):115-121. doi: 10.1136/jmedgenet-2020-107347. Epub 2021 Mar 23.
    • DNA Repair Pathways and Their Association With Lethal Prostate Cancer in African American and European American Men.
    • Plym A, Dióssy M, Szallasi Z, Sartor O, Silberstein J, Powell IJ, Rebbeck TR, Penney KL, Mucci LA, Pomerantz MM, Kibel AS.
    • JNCI Cancer Spectr. 2021 Dec 27 [eCollection 2022 Feb];6(1):pkab097. doi: 10.1093/jncics/pkab097.
    • Clinical Utility of Germline Genetic Testing in Japanese Men Undergoing Prostate Biopsy.
    • Akamatsu S, Terada N, Takata R, Kinoshita H, Shimatani K, Momozawa Y, Yamamoto M, Tada H, Kawamorita N, Narita S, Kato T, Nitta M, Kandori S, Koike Y, Inazawa J, Kimura T, Kimura H, Kojima T, Terachi T, Sugimoto M, Habuchi T, Arai Y, Yamamoto S, Matsuda T, Obara W, Kamoto T, Inoue T, Nakagawa H, Ogawa O.
    • JNCI Cancer Spectr. 2022 Jan 9 [eCollection 2022 Feb];6(1):pkac001. doi: 10.1093/jncics/pkac001.
    • Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation Sequencing.
    • Ercoskun P, Yuce Kahraman C, Ozkan G, Tatar A.
    • Mol Syndromol. 2022 Feb;13(2):123-131. doi: 10.1159/000518927. Epub 2021 Nov 4.
    • Identifying Transcripts with Tandem Duplications from RNA-Sequencing Data to Predict BRCA1-Type Primary Breast Cancer.
    • Qu S, Martens JWM, Hollestelle A, Smid M.
    • Cancers (Basel). 2022 Jan 31;14(3):753. doi: 10.3390/cancers14030753.
    • CHEK2 mutations and papillary thyroid cancer: correlation or coincidence?
    • Koen K, Robin P, Eline N.
    • Hered Cancer Clin Pract. 2022 Jan 31;20(1):5. doi: 10.1186/s13053-022-00211-7.
    • Novel Insights From the Germline Landscape of Breast Cancer in Brazil.
    • Barbalho D, Sandoval R, Santos E, Pisani J, Quirino C, Garicochea B, Rossi B, Achatz MI.
    • Front Oncol. 2022 Jan 28;11:743231. doi: 10.3389/fonc.2021.743231.
    • The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.
    • Andrikopoulou A, Chatzinikolaou S, Kyriopoulos I, Bletsa G, Kaparelou M, Liontos M, Dimopoulos MA, Zagouri F.
    • Front Oncol. 2022 Jan 21;11:797505. doi: 10.3389/fonc.2021.797505.
    • Long-term tumour dormancy in a BRCA1 heterozygote.
    • Amuzu S, Fu L, Demko N, Rivera B, Domecq C, de Kock L, Hamel N, Gilbert L, Polak P, Ragoussis J, Foulkes WD.
    • J Med Genet. 2022 Jan 17:jmedgenet-2021-108269. doi: 10.1136/jmedgenet-2021-108269. Epub ahead of print.
    • Case report
    • Value of the loss of heterozygosity to BRCA1 variant classification.
    • Santana Dos Santos E, Spurdle AB, Carraro DM, Briaux A, Southey M, Torrezan G, Petitalot A, Leman R, Lafitte P; kConFab Investigators, Meseure D, Driouch K, Side L, Brewer C, Beck S, Melville A, Callaway A, Revillion F, Folgueira MAAK, Parsons MT, Thorne H, Vincent-Salomon A, Stoppa-Lyonnet D, Bieche I, Caputo SM, Rouleau E.
    • NPJ Breast Cancer. 2022 Jan 17;8(1):9. doi: 10.1038/s41523-021-00361-2.
    • Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.
    • Turchiano A, Loconte DC, De Nola R, Arezzo F, Chiarello G, Pantaleo A, Iacoviello M, Bagnulo R, De Luisi A, Perrelli S, Martino S, Ranieri C, Garganese A, Stella A, Forleo C, Loizzi V, Marinaccio M, Cicinelli E, Cormio G, Resta N.
    • Cancers (Basel). 2022 Jan 12;14(2):365. doi: 10.3390/cancers14020365.
    • Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort.
    • Tran VT, Nguyen ST, Pham XD, Phan TH, Nguyen VC, Nguyen HT, Nguyen HP, Doan PTT, Le TA, Nguyen BT, Jasmine TX, Nguyen DS, Nguyen HL, Nguyen NM, Do DX, Tran VU, Nguyen HHT, Le MP, Nguyen YN, Do TTT, Truong DK, Tang HS, Phan MD, Nguyen HN, Giang H, Tu LN.
    • Front Oncol. 2022 Jan 5;11:789659. doi: 10.3389/fonc.2021.789659.
    • Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients.
    • Tsaousis GN, Papadopoulou E, Agiannitopoulos K, Pepe G, Tsoulos N, Boukovinas I, Floros T, Iosifidou R, Katopodi O, Koumarianou A, Markopoulos C, Papazisis K, Venizelos V, Kapsimalis A, Xepapadakis G, Psyrri A, Banu E, Eniu DT, Blidaru A, Stanculeanu DL, Ungureanu A, Ozmen V, Tansan S, Tekinel M, Yalcin S, Nasioulas G.
    • Cancer Genomics Proteomics. 2022 Jan-Feb;19(1):60-78. doi: 10.21873/cgp.20304.
    • A catalog of curated breast cancer genes.
    • Bose M, Benada J, Thatte JV, Kinalis S, Ejlertsen B, Nielsen FC, Sørensen CS, Rossing M.
    • Breast Cancer Res Treat. 2022 Jan;191(2):431-441. doi: 10.1007/s10549-021-06441-y. Epub 2021 Nov 10.
    • Familial Predisposition and Genetic Risk Factors Associated with Pancreatic Cancer.
    • Rustgi SD, Hilfrank KJ, Kastrinos F.
    • Gastrointest Endosc Clin N Am. 2022 Jan;32(1):1-12. doi: 10.1016/j.giec.2021.09.001.
    • Review
    • New Perspectives on the Recurrent Monoallelic Germline Mutations of DNA Repair and Checkpoint Genes and Clinical Variability.
    • Sahin I, Saat H.
    • Genet Test Mol Biomarkers. 2022 Jan;26(1):17-25. doi: 10.1089/gtmb.2021.0108.
    • Mainstreaming Genetic Testing for Epithelial Ovarian Cancer by Oncology Providers: A Survey of Current Practice.
    • Czekalski MA, Huziak RC, Durst AL, Taylor S, Mai PL.
    • JCO Precis Oncol. 2022 Jan;6:e2100409. doi: 10.1200/PO.21.00409.
    • Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer.
    • Moreno-Cabrera JM, Del Valle J, Feliubadaló L, Pineda M, González S, Campos O, Cuesta R, Brunet J, Serra E, Capellà G, Gel B, Lázaro C.
    • J Med Genet. 2022 Jan;59(1):75-78. doi: 10.1136/jmedgenet-2020-107366. Epub 2020 Nov 20.
    • Homologous Recombination Deficiencies and Hereditary Tumors.
    • Yamamoto H, Hirasawa A.
    • Int J Mol Sci. 2021 Dec 29;23(1):348. doi: 10.3390/ijms23010348.
    • Genetic Testing Challenges in Oncology: Prior Retinoblastoma Not Considered in Test Ordering.
    • Ray T.
    • Precision Oncology News. Disease Areas. 2021 Dec 22.
    • Prevalence of BRCA1 and BRCA2 pathogenic sequence variants in ovarian cancer patients in the Gulf region: the PREDICT study.
    • Azribi F, Abdou E, Dawoud E, Ashour M, Kamal A, Al Sayed M, Burney I.
    • BMC Cancer. 2021 Dec 20;21(1):1350. doi: 10.1186/s12885-021-09094-8.
    • Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast.
    • Yadav S, Hu C, Nathanson KL, Weitzel JN, Goldgar DE, Kraft P, Gnanaolivu RD, Na J, Huang H, Boddicker NJ, Larson N, Gao C, Yao S, Weinberg C, Vachon CM, Trentham-Dietz A, Taylor JA, Sandler DR, Patel A, Palmer JR, Olson JE, Neuhausen S, Martinez E, Lindstrom S, Lacey JV, Kurian AW, John EM, Haiman C, Bernstein L, Auer PW, Anton-Culver H, Ambrosone CB, Karam R, Chao E, Yussuf A, Pesaran T, Dolinsky JS, Hart SN, LaDuca H, Polley EC, Domchek SM, Couch FJ.
    • J Clin Oncol. 2021 Dec 10;39(35):3918-3926. doi: 10.1200/JCO.21.00640. Epub 2021 Oct 21.
    • Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
    • Southey MC, Dowty JG, Riaz M, Steen JA, Renault AL, Tucker K, Kirk J, James P, Winship I, Pachter N, Poplawski N, Grist S, Park DJ, Pope BJ, Mahmood K, Hammet F, Mahmoodi M, Tsimiklis H, Theys D, Rewse A, Willis A, Morrow A, Speechly C, Harris R, Sebra R, Schadt E, Lacaze P, McNeil JJ, Giles GG, Milne RL, Hopper JL, Nguyen-Dumont T.
    • NPJ Breast Cancer. 2021 Dec 9;7(1):153. doi: 10.1038/s41523-021-00360-3.
    • Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population.
    • Shen L, Zhang S, Wang K, Wang X.
    • Front Oncol. 2021 Dec 1;11:740227. doi: 10.3389/fonc.2021.740227.

    Commentary:

    Editorial: Familial Cancer in China: From Detection to Screening and Management.

    • Prognostic difficulties of men with breast cancer.
    • Fentiman IS.
    • Breast J. 2021 Dec;27(12):877-882. doi: 10.1111/tbj.14297. Epub 2021 Oct 15.
    • Review
    • Clinical Contribution of Next-Generation Sequencing Multigene Panel Testing for BRCA Negative High-Risk Patients With Breast Cancer.
    • Ece Solmaz A, Yeniay L, Gökmen E, Zekioglu O, Haydaroglu A, Bilgen I, Özkinay F, Onay H.
    • Clin Breast Cancer. 2021 Dec;21(6):e647-e653. doi: 10.1016/j.clbc.2021.04.002. Epub 2021 Apr 12.
    • Somatic mosaics in hereditary tumor predisposition syndromes.
    • Steinke-Lange V, de Putter R, Holinski-Feder E, Claes KB.
    • Eur J Med Genet. 2021 Dec;64(12):104360. doi: 10.1016/j.ejmg.2021.104360. Epub 2021 Oct 13.
    • Concurrent pathogenic variations in patients with hereditary cancer syndromes.
    • Agaoglu NB, Doganay L.
    • Eur J Med Genet. 2021 Dec;64(12):104366. doi: 10.1016/j.ejmg.2021.104366. Epub 2021 Oct 9.
    • Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records.
    • Schiabor Barrett KM, Bolze A, Ni Y, White S, Isaksson M, Sharma L, Levin E, Lee W, Grzymski JJ, Lu JT, Washington NL, Cirulli ET.
    • Genet Med. 2021 Dec;23(12):2300-2308. doi: 10.1038/s41436-021-01293-9. Epub 2021 Aug 13.
    • Utilization of breast cancer risk prediction models by cancer genetic counselors in clinical practice predominantly in the United States.
    • Park MS, Weissman SM, Postula KJV, Williams CS, Mauer CB, O'Neill SM.
    • J Genet Couns. 2021 Dec;30(6):1737-1747. doi: 10.1002/jgc4.1442. Epub 2021 Jun 2.
    • Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.
    • Tudini E, Davidson AL, Dressel U, Andrews L, Antill Y, Crook A, Field M, Gattas M, Harris R, Kirk J, Pachter N, Salmon L, Susman R, Townshend S, Trainer AH, Tucker KM, Mitchell G, James PA, Ward RL, Mar Fan H, Poplawski NK, Spurdle AB.
    • J Med Genet. 2021 Dec;58(12):853-858. doi: 10.1136/jmedgenet-2020-107140. Epub 2020 Nov 9.
    • Characteristics of Germline Non-BRCA Mutation Status of High-Risk Breast Cancer Patients in China and Correlation with High-Risk Factors and Multigene Testing Suggestions.
    • Su Y, Yao Q, Xu Y, Yu C, Zhang J, Wang Q, Li J, Shi D, Yu B, Zeng Y, Zhu X, Bai Q, Zhou X.
    • Front Genet. 2021 Nov 30;12:674094. doi: 10.3389/fgene.2021.674094.
    • Exonic sequencing and MLH3 gene expression analysis of breast cancer patients.
    • Khailany RA, Ozaslan M.
    • Cell Mol Biol (Noisy-le-grand). 2021 Nov 25;67(3):35-43. doi: 10.14715/cmb/2021.67.3.5.
    • Implication and Influence of Multigene Panel Testing with Genetic Counseling in Korean Patients with BRCA1/2 Mutation-Negative Breast Cancer.
    • Park JS, Shin S, Lee YJ, Lee ST, Nam EJ, Han JW, Lee SH, Kim TI, Park HS.
    • Cancer Res Treat. 2021 Nov 17. doi: 10.4143/crt.2021.978. Epub ahead of print.
    • Universal Germline Testing of Unselected Cancer Patients Detects Pathogenic Variants Missed by Standard Guidelines without Increasing Healthcare Costs.
    • Perkins AT, Haslem D, Goldsberry J, Shortt K, Sittig L, Raghunath S, Giauque C, Snow S, Fulde G, Moulton B, Jones D, Nadauld L.
    • Cancers (Basel). 2021 Nov 10;13(22):5612. doi: 10.3390/cancers13225612.
    • Germline DNA damage repair gene mutations in pancreatic cancer patients with personal/family histories of pancreas/breast/ovarian/prostate cancer in a Japanese population.
    • Hata T, Mizuma M, Motoi F, Ishida M, Ohtsuka H, Nakagawa K, Morikawa T, Furukawa T, Unno M.
    • Ann Gastroenterol Surg. 2021 Jun 28;5(6):853-864. doi: 10.1002/ags3.12482. eCollection 2021 Nov.
    • Validation of BRCA testing on cytologic samples of high-grade serous carcinoma.
    • Lou SK, Grenier S, Care M, McCuaig J, Stockley TL, Clarke B, Ruff HM, Boerner SL.
    • Cancer Cytopathol. 2021 Nov;129(11):907-913. doi: 10.1002/cncy.22484.
    • Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study.
    • Combrink HM, Oosthuizen J, Visser B, Chabilal N, Buccimazza I, Foulkes WD, van der Merwe NC.
    • Cancer Genet. 2021 Nov;258-259:1-6. doi: 10.1016/j.cancergen.2021.06.002. Epub 2021 Jun 15.

    Dataset description:

    A South African Indian population group dataset for breast cancer and BRCA1/2 variants.

    • Next generation sequencing for gynecologic malignancy: Promise and potential pitfalls.
    • Hinchcliff EM, Westin SN.
    • Gynecol Oncol. 2021 Nov;163(2):217-219. doi: 10.1016/j.ygyno.2021.10.005.
    • Commentary

    Original research:

    Outcomes after targeted treatment based on somatic tumor genetic testing for women with gynecologic cancers.

    • Outcomes after targeted treatment based on somatic tumor genetic testing for women with gynecologic cancers.
    • Somasegar S, Hoppenot C, Kuchta K, Sereika A, Khandekar J, Rodriguez G, Moore E, Hurteau J, Vogel TJ.
    • Gynecol Oncol. 2021 Nov;163(2):220-228. doi: 10.1016/j.ygyno.2021.08.027. Epub 2021 Sep 9.

    Commentary:

    Next generation sequencing for gynecologic malignancy: Promise and potential pitfalls.

    Commentary:

    Patient benefit rate and guarantee time bias in analysis of outcomes for gynecologic oncology patients receiving targeted treatment after somatic tumor genetic testing.

    News: Varsity Pharmaceuticals Licenses Pol-Theta Inhibitor From Dana-Farber Cancer Institute. (Precision Oncology News)

    • Rapid Breakpoint Mapping of a Novel Germline PALB2 Duplication by PCR-Free Long-Read Sequencing for Interpretation of Its Pathogenicity.
    • Kwong A, Au CH, Shin VY, Ho DN, Wong EYL, Ho CYS, Chung Y, Chan TL, Ma ESK.
    • JCO Precis Oncol. 2021 Nov;5:1044-1047. doi: 10.1200/PO.20.00454.
    • Case report
    • Up-Front Multigene Panel Testing for Cancer Susceptibility in Patients With Newly Diagnosed Endometrial Cancer: A Multicenter Prospective Study.
    • Levine MD, Pearlman R, Hampel H, Cosgrove C, Cohn D, Chassen A, Suarez A, Barrington DA, McElroy JP, Waggoner S, Nakayama J, Billingsley C, Resnick K, Andrews S, Singh S, Jenison E, Clements A, Neff R, Goodfellow PJ; Ohio Prevention and Treatment of Endometrial Cancer Initiative Study Group.
    • JCO Precis Oncol. 2021 Nov;5:1588-1602. doi: 10.1200/PO.21.00249.
    • Do BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?
    • Stempa K, Wokolorczyk D, Kluzniak W, Rogoza-Janiszewska E, Malinska K, Rudnicka H, Huzarski T, Gronwald J, Gliniewicz K, Debniak T, Jakubowska A, Lener M, Tomiczek-Szwiec J, Domagala P, Suszynska M, Kozlowski P, Kluz T, Naczk M, Lubinski J, Narod SA, Akbari MR, Cybulski C, On Behalf Of The Polish Hereditary Prostate Cancer Consortium.
    • Cancers (Basel). 2021 Oct 30;13(21):5464. doi: 10.3390/cancers13215464.
    • Identification and Characterization of New Alu Element Insertion in the BRCA1 Exon 14 Associated with Hereditary Breast and Ovarian Cancer.
    • Bouras A, Leone M, Bonadona V, Lebrun M, Calender A, Boutry-Kryza N.
    • Genes (Basel). 2021 Oct 29;12(11):1736. doi: 10.3390/genes12111736.
    • Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis.
    • Karin W, Håkan T, Daniel N, Emma T.
    • Hered Cancer Clin Pract. 2021 Oct 28;19(1):46. doi: 10.1186/s13053-021-00203-z.
    • Genetic Testing Challenges in Oncology: Same Multigene Cancer Risk Panel Not Right for All.
    • Ray T.
    • Precision Oncology News. Biomarkers. BRCA. 2021 Oct 28.
    • Precision Oncology of High-Grade Ovarian Cancer Defined through Targeted Sequencing.
    • Wessman S, Fuentes BB, Törngren T, Kvist A, Kokaraki G, Menkens H, Hjerpe E, Hugo Y, Petta TB, Borg Å, Carlson JW.
    • Cancers (Basel). 2021 Oct 19;13(20):5240. doi: 10.3390/cancers13205240.
    • Inherited Mutations in Chinese Men With Prostate Cancer.
    • Zhu Y, Wei Y, Zeng H, Li Y, Ng CF, Zhou F, He C, Sun G, Ni Y, Chiu PKF, Teoh JYC, Wang B, Pan J, Wan F, Dai B, Qin X, Lin G, Gan H, Wu J, Ye D.
    • J Natl Compr Canc Netw. 2021 Oct 15;20(1):54-62. doi: 10.6004/jnccn.2021.7010.
    • Clinical Impact of Pathogenic Germline Variants in Pancreatic Cancer: Results From a Multicenter, Prospective, Universal Genetic Testing Study.
    • Uson PLS Jr, Samadder NJ, Riegert-Johnson D, Boardman L, Borad MJ, Ahn D, Sonbol MB, Faigel DO, Fukami N, Pannala R, Kunze K, Golafshar M, Klint M, Esplin ED, Nussbaum RL, Stewart AK, Bekaii-Saab T.
    • Clin Transl Gastroenterol. 2021 Oct 8;12(10):e00414. doi: 10.14309/ctg.0000000000000414.
    • Profile of Pathogenic Mutations and Evaluation of Germline Genetic Testing Criteria in Consecutive Breast Cancer Patients Treated at a North Indian Tertiary Care Center.
    • Mittal A, Deo SVS, Gogia A, Batra A, Kumar A, Bhoriwal S, Deb KS, Dhamija E, Thulkar S, Ramprasad VL, Olopade O, Pramanik R.
    • Ann Surg Oncol. 2021 Oct 2:1–10. doi: 10.1245/s10434-021-10870-w. Epub ahead of print.
    • Yield of targeted genotyping for the recurring pathogenic variants in cancer susceptibility genes in a healthy, multiethnic Israeli population.
    • Bernstein-Molho R, Galmor L, Laitman Y, Segev S, Friedman E.
    • Cancer. 2021 Oct 1;127(19):3599-3604. doi: 10.1002/cncr.33560. Epub 2021 Jun 22.
    • Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer.
    • Yadav S, LaDuca H, Polley EC, Hu C, Niguidula N, Shimelis H, Lilyquist J, Na J, Lee KY, Gutierrez S, Yussuf A, Hart SN, Davis BT, Chao EC, Pesaran T, Goldgar DE, Dolinsky JS, Couch FJ.
    • J Natl Cancer Inst. 2021 Oct 1;113(10):1429-1433. doi: 10.1093/jnci/djaa167.
    • Next Generation Sequencing of Tumor and Matched Plasma Samples: Identification of Somatic Variants in ctDNA From Ovarian Cancer Patients.
    • Barbosa A, Pinto P, Peixoto A, Guerra J, Pinheiro M, Santos C, Pinto C, Escudeiro C, Bartosch C, Santos R, Brandão A, Silva J, Teixeira MR.
    • Front Oncol. 2021 Sep 30;11:754094. doi: 10.3389/fonc.2021.754094.
    • Genetic Testing Challenges in Oncology: BRCA1 Variant Downgraded After Risk-Reducing Surgery.
    • Ray T.
    • Precision Oncology News. Biomarkers. BRCA. 2021 Sep 29.
    • Alternative Genetic Counseling Approach Leads to Higher Patient Satisfaction, Study Suggests.
    • Curtin C.
    • GenomeWeb. Research & Discovery. 2021 Sep 27.
    • Breast radiotherapy-related treatment outcomes in patients with or without germline mutations on multigene panel testing.
    • Chapman BV, Liu D, Shen Y, Olamigoke OO, Lakomy DS, Barrera AMG, Stecklein SR, Sawakuchi GO, Bright SJ, Bedrosian I, Litton JK, Smith BD, Woodward WA, Perkins GH, Hoffman KE, Stauder MC, Strom EA, Arun BK, Shaitelman SF.
    • Int J Radiat Oncol Biol Phys. 2021 Sep 25:S0360-3016(21)02830-3. doi: 10.1016/j.ijrobp.2021.09.026. Epub ahead of print.
    • The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.
    • Resch LD, Hotz A, Zimmer AD, Komlosi K, Singh N, Tzschach A, Windfuhr-Blum M, Juhasz-Boess I, Erbes T, Fischer J, Alter S.
    • Genes (Basel). 2021 Sep 24;12(10):1483. doi: 10.3390/genes12101483.
    • Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing.
    • Wang Y, Golesworthy B, Cuggia A, Domecq C, Chaudhury P, Barkun J, Metrakos P, Asselah J, Bouganim N, Gao ZH, Chong G, Foulkes WD, Zogopoulos G.
    • J Med Genet. 2021 Sep 23:jmedgenet-2021-108054. doi: 10.1136/jmedgenet-2021-108054. Epub ahead of print.
    • Researchers Call for More Uniformity in Cancer Genetic Testing, Risk Guidelines in Europe.
    • Kanski A.
    • Precision Oncology News. 2021 Sep 19.
    • News
    • Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco.
    • Laraqui A, Cavaillé M, Uhrhammer N, ElBiad O, Bidet Y, El Rhaffouli H, El Anaz H, Rahali DM, Kouach J, Guelzim K, Badaoui B, AlBouzidi A, Oukabli M, Tanz R, Sbitti Y, Ichou M, Ennibi K, Sekhsokh Y, Bignon YJ.
    • J Genomics. 2021 Sep 18;9:43-54. doi: 10.7150/jgen.61713.
    • Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasms.
    • Elbracht M, Meyer R, Kricheldorf K, Gezer D, Thomas E, Betz B, Kurth I, Teichmann LL, Brümmendorf TH, Germing U, Isfort S, Koschmieder S.
    • Blood Adv. 2021 Sep 14;5(17):3373-3376. doi: 10.1182/bloodadvances.2021004811.
    • Feasibility of genetic testing for cancer risk assessment programme in Nigeria.
    • Adejumo PO, Aniagwu TIG, Awolude OA, Oni AO, Ajayi OO, Fagbenle O, Ogungbade D, Kochheiser M, Ogundiran T, Olopade OI.
    • Ecancermedicalscience. 2021 Sep 7;15:1283. doi: 10.3332/ecancer.2021.1283.
    • Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.
    • Wieme G, Kral J, Rosseel T, Zemankova P, Parton B, Vocka M, Van Heetvelde M, Kleiblova P, Blaumeiser B, Soukupova J, van den Ende J, Nehasil P, Tejpar S, Borecka M, Gómez García EB, Blok MJ, Safarikova M, Kalousova M, Geboes K, De Putter R, Poppe B, De Leeneer K, Kleibl Z, Janatova M, Claes KBM.
    • Cancers (Basel). 2021 Sep 2;13(17):4430. doi: 10.3390/cancers13174430.
    • Genetic testing in patients with triple-negative or hereditary breast cancer.
    • Bernstein-Molho R, Evron E, Yerushalmi R, Paluch-Shimon S.
    • Curr Opin Oncol. 2021 Sep 1. doi: 10.1097/CCO.0000000000000784. Epub ahead of print.
    • Review
    • Multiple Mutation Detection for Risk Assessment in Patients with Breast Cancer by Using Next-Generation Sequencing.
    • Liu PF, Zhuo ZL, Xie F, Xian HP, Liu C, Wang S, Zhao XT.
    • Ann Clin Lab Sci. 2021 Sep;51(5):670-677.
    • Current Testing Guidelines: A Retrospective Analysis of a Community-Based Hereditary Cancer Program.
    • Ward M, Elder B, Habtemariam M.
    • J Adv Pract Oncol. 2021 Sep;12(7):693-701. doi: 10.6004/jadpro.2021.12.7.3. Epub 2021 Sep 1.
    • Observed evidence for guideline-recommended genes in predicting prostate cancer risk from a large population-based cohort.
    • Wei J, Yang W, Shi Z, Lu L, Wang Q, Resurreccion WK, Engelmann V, Zheng SL, Hulick PJ, Cooney KA, Isaacs WB, Helfand BT, Lu J, Xu J.
    • Prostate. 2021 Sep;81(13):1002-1008. doi: 10.1002/pros.24195. Epub 2021 Jul 12.
    • Genetic predisposition to male breast cancer in Poland.
    • Szwiec M, Tomiczek-Szwiec J, Kluzniak W, Wokolorczyk D, Osowiecka K, Sibilski R, Wachowiak M, Gronwald J, Gronwald H, Lubinski J, Cybulski C, Narod SA, Huzarski T.
    • BMC Cancer. 2021 Aug 30;21(1):975. doi: 10.1186/s12885-021-08718-3.
    • Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study.
    • Chandrasekaran D, Sobocan M, Blyuss O, Miller RE, Evans O, Crusz SM, Mills-Baldock T, Sun L, Hammond RFL, Gaba F, Jenkins LA, Ahmed M, Kumar A, Jeyarajah A, Lawrence AC, Brockbank E, Phadnis S, Quigley M, El Khouly F, Wuntakal R, Faruqi A, Trevisan G, Casey L, Burghel GJ, Schlecht H, Bulman M, Smith P, Bowers NL, Legood R, Lockley M, Wallace A, Singh N, Evans DG, Manchanda R.
    • Cancers (Basel). 2021 Aug 27;13(17):4344. doi: 10.3390/cancers13174344.
    • Discovery of structural deletions in breast cancer predisposition genes using whole genome sequencing data from > 2000 women of African-ancestry.
    • Chen Z, Guo X, Long J, Ping J, Li B, Fadden MK, Ahearn TU, Stram DO, Shu XO, Jia G, Figueroa J; Ghana Breast Health Study team, Palmer JR, Sanderson M, Haiman CA, Blot WJ, Garcia-Closas M, Cai Q, Zheng W.
    • Hum Genet. 2021 Aug 27. doi: 10.1007/s00439-021-02342-8. Epub ahead of print.
    • Preventive population genomics: The model of BRCA related cancers.
    • Reisel D, Baran C, Manchanda R.
    • Adv Genet. 2021;108:1-33. doi: 10.1016/bs.adgen.2021.08.001. Epub 2021 Aug 26.
    • Review. Book chapter
    • Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families.
    • Matis TS, Zayed N, Labraki B, de Ladurantaye M, Matis TA, Camacho Valenzuela J, Hamel N, Atayan A, Rivera B, Tabach Y, Tonin PN, Orthwein A, Mes-Masson AM, El Haffaf Z, Foulkes WD, Polak P.
    • NPJ Breast Cancer. 2021 Aug 25;7(1):109. doi: 10.1038/s41523-021-00315-8.
    • Targeting DNA Damage Repair Mechanisms in Pancreas Cancer.
    • Perkhofer L, Golan T, Cuyle PJ, Matysiak-Budnik T, Van Laethem JL, Macarulla T, Cauchin E, Kleger A, Beutel AK, Gout J, Stenzinger A, Van Cutsem E, Bellmunt J, Hammel P, O'Reilly EM, Seufferlein T.
    • Cancers (Basel). 2021 Aug 24;13(17):4259. doi: 10.3390/cancers13174259.
    • Germline mutations in Black patients with ovarian, fallopian tube and primary peritoneal carcinomas.
    • Somasegar S, Weiss AS, Norquist BM, Khasnavis N, Radke M, Manhardt E, Pennil C, Pennington KP, Eckert MA, Chryplewicz A, Lengyel E, Swisher EM.
    • Gynecol Oncol. 2021 Aug 24:S0090-8258(21)01315-9. doi: 10.1016/j.ygyno.2021.08.017. Epub ahead of print.
    • Understanding the Clinical Implications of Low Penetrant Genes and Breast Cancer Risk.
    • Vaidyanathan A, Kaklamani V.
    • Curr Treat Options Oncol. 2021 Aug 23;22(10):85. doi: 10.1007/s11864-021-00887-4.
    • Review
    • Genetic Variants and Tumor Immune Microenvironment: Clues for Targeted Therapies in Inflammatory Breast Cancer (IBC).
    • Gong Y, Nagarathinam R, Arisi MF, Gerratana L, Winn JS, Slifker M, Pei J, Cai KQ, Hasse Z, Obeid E, Noriega J, Sebastiano C, Ross E, Alpaugh K, Cristofanilli M, Fernandez SV.
    • Int J Mol Sci. 2021 Aug 19;22(16):8924. doi: 10.3390/ijms22168924.
    • Next-Generation Sequencing of Patients With Breast Cancer in Community Oncology Clinics.
    • Sturgill EG, Misch A, Lachs R, Jones CC, Schlauch D, Jones SF, Shastry M, Yardley DA, Burris HA 3rd, Spigel DR, Hamilton EP, McKenzie AJ.
    • JCO Precis Oncol. 2021 Nov [Epub 2021 Aug 19];5:1297-1311. doi: 10.1200/PO.20.00469.

    Press: NGS Use for Breast Cancer Increases Sixfold in Community Oncology Clinics, Study Finds. (Precision Oncology News)

    • Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.
    • Herzog JS, Chavarri-Guerra Y, Castillo D, Abugattas J, Villarreal-Garza C, Sand S, Clague-Dehart J, Alvarez-Gómez RM, Wegman-Ostrosky T, Mohar A, Mora P, Del Toro-Valero A, Daneri-Navarro A, Rodriguez Y, Cruz-Correa M, Ashton-Prolla P, Alemar B, Mejia R, Gallardo L, Shaw R, Yang K, Cervantes A, Tsang K, Nehoray B, Barrera Saldana H, Neuhausen S, Weitzel JN.
    • NPJ Breast Cancer. 2021 Aug 19;7(1):107. doi: 10.1038/s41523-021-00317-6.
    • Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability.
    • Evans DG, van Veen EM, Woodward ER, Harkness EF, Ellingford JM, Bowers NL, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ.
    • Cancers (Basel). 2021 Aug 18;13(16):4154. doi: 10.3390/cancers13164154.
    • Identification of BRCA2 Cis Double Heterozygous Breast Cancer Cases Using Whole Exome Sequencing: Phenotypic Expression and Impact on Personalized Oncology.
    • Hamdi Y, Boujemaa M, Mighri N, Mejri N, Jaidane O, Ben Nasr S, Bouaziz H, Hassouna JB, Zribi A, Berrazaga Y, Rachdi H, Daoud N, El Benna H, Labidi S, Haddaoui A, Rahal K, Benna F, Boussen H, Abdelhak S, Boubaker S.
    • Front Genet. 2021 Aug 12;12:674990. doi: 10.3389/fgene.2021.674990.
    • Double Heterozygous Mutations in the BRCA2 and ATM Genes: A Case Report and Review of the Literature.
    • Duzkale Teker N, Eyerci N.
    • Breast Care (Basel). 2021 Aug;16(4):412-417. doi: 10.1159/000511430. Epub 2020 Oct 29.
    • Case report
    • Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: looking over the hedge.
    • Bono M, Fanale D, Incorvaia L, Cancelliere D, Fiorino A, Calò V, Dimino A, Filorizzo C, Corsini LR, Brando C, Madonia G, Cucinella A, Scalia R, Barraco N, Guadagni F, Pedone E, Badalamenti G, Russo A, Bazan V.
    • ESMO Open. 2021 Aug;6(4):100235. doi: 10.1016/j.esmoop.2021.100235. Epub 2021 Aug 7.
    • Pursuing germline genome sequencing to reduce illness uncertainty may involve additional uncertainties for cancer patients: A mixed-methods study.
    • Bartley N, Best M, Butow P.
    • J Genet Couns. 2021 Aug;30(4):1143-1155. doi: 10.1002/jgc4.1398. Epub 2021 Mar 31.
    • Update: variable implementation of the 2018 UKCGG/UKGTN guidelines for breast cancer gene panel tests offered by UK genetics services.
    • Wedderburn S, Archer S, Tischkowitz M, Hanson H; UKCGG.
    • J Med Genet. 2021 Aug;58(8):579-580. doi: 10.1136/jmedgenet-2020-107529. Epub 2021 Feb 10.
    • Overview of Prostate Cancer Genetic Testing.
    • Chandrasekar T, Kelly WK, Gomella LG.
    • Urol Clin North Am. 2021 Aug;48(3):279-282. doi: 10.1016/j.ucl.2021.04.002. Epub 2021 Jun 10.
    • Review
    • Germline Predisposition to Prostate Cancer in Diverse Populations.
    • Bree KK, Henley PJ, Pettaway CA.
    • Urol Clin North Am. 2021 Aug;48(3):411-423. doi: 10.1016/j.ucl.2021.03.008. Epub 2021 Jun 12.
    • Review
    • Cancer Predisposition Sequencing Reporter (CPSR): a flexible variant report engine for high-throughput germline screening in cancer.
    • Nakken S, Saveliev V, Hofmann O, Møller P, Myklebost O, Hovig E.
    • Int J Cancer. 2021 Jul 26. doi: 10.1002/ijc.33749. Epub ahead of print.
    • Identifying Sequence Variants of 18 Hereditary Ovarian Cancer-Associated Genes in Chinese Epithelial Ovarian Cancer Patients.
    • Wu X, Chen Z, Ren P, Zhao X, Tang D, Geng H, Xu X, Zhao W.
    • Biomed Res Int. 2021 Jul 24;2021:5579543. doi: 10.1155/2021/5579543.
    • TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
    • Lesueur F, Eon-Marchais S, Bonnet-Boissinot S, Beauvallet J, Dondon MG, Golmard L, Rouleau E, Garrec C, Martinez M, Toulas C, Nguyen TD, Brayotel F, Crivelli L, Maugard CM, Bubien V, Sevenet N, Gesta P, Chieze-Valero S, Nambot S, Goussot V, Mari V, Popovici C, Prieur F, Morin-Meschin ME, Tinat J, Lortholary A, Dreyfus H, Bidart M, Collonge-Rame MA, Mozelle-Nivoix M, Gladieff L, Giraud S, Boutry-Kryza N, Chiesa J, Denizeau P, Bignon YJ, Uhrhammer N, Cohen-Haguenauer O, Vilquin P, Mailliez A, Coupier I, Rey JM, Lacaze E, Béra O, Colas C, Coulet F, Delnatte C, Houdayer C, Lasset C, Lemonnier J, Longy M, Noguès C, Stoppa-Lyonnet D, Vaur D, Andrieu N, Caron O.
    • Cancers (Basel). 2021 Jul 21;13(15):3659. doi: 10.3390/cancers13153659.
    • Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
    • Guglielmi C, Scarpitta R, Gambino G, Conti E, Bellè F, Tancredi M, Cervelli T, Falaschi E, Cosini C, Aretini P, Congregati C, Marino M, Patruno M, Pilato B, Spina F, Balestrino L, Tenedini E, Carnevali I, Cortesi L, Tagliafico E, Tibiletti MG, Tommasi S, Ghilli M, Vivanet C, Galli A, Caligo MA.
    • Int J Mol Sci. 2021 Jul 19;22(14):7693. doi: 10.3390/ijms22147693.
    • Incidental findings from cancer next generation sequencing panels.
    • Maani N, Panabaker K, McCuaig JM, Buckley K, Semotiuk K, Farncombe KM, Ainsworth P, Panchal S, Sadikovic B, Armel SR, Lin H, Kim RH.
    • NPJ Genom Med. 2021 Jul 19;6(1):63. doi: 10.1038/s41525-021-00224-6.
    • Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes.
    • Helgadottir HT, Thutkawkorapin J, Lagerstedt-Robinson K, Lindblom A.
    • Sci Rep. 2021 Jul 19;11(1):14737. doi: 10.1038/s41598-021-94316-z.
    • High-grade serous ovarian carcinoma and detection of inactivated BRCA genes from biopsy material of Slovak patients.
    • Janíková K, Vánová B, Grendár M, Samec M, Líšková A, Loderer D, Kašubová I, Farkašová A, Scheerova K, Slávik P, Lasabová Z, Danková Z, Plank L.
    • Neoplasma. 2021 Jul 14:210226N256. doi: 10.4149/neo_2021_210226N256. Epub ahead of print.
    • Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
    • Bhai P, Levy MA, Rooney K, Carere DA, Reilly J, Kerkhof J, Volodarsky M, Stuart A, Kadour M, Panabaker K, Schenkel LC, Lin H, Ainsworth P, Sadikovic B.
    • Front Genet. 2021 Jul 13;12:698595. doi: 10.3389/fgene.2021.698595.
    • Search Behavior Regarding Cancer Susceptibility Genes Using a Clinical Decision Support Tool for Gene-Specific Penetrance: Content Analysis.
    • Yin K, Zhou J, Singh P, Wang J, Braun D, Hughes KS.
    • JMIR Cancer. 2021 Jul 13;7(3):e28527. doi: 10.2196/28527.
    • Mutational profile of hereditary breast and ovarian cancer - Establishing genetic testing guidelines in a developing country.
    • Krivokuca A, Mihajlovic M, Susnjar S, Spasojevic IB, Minic I, Popovic L, Brankovic-Magic M.
    • Curr Probl Cancer. 2021 Jul 10:100767. doi: 10.1016/j.currproblcancer.2021.100767. Epub ahead of print.
    • Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer.
    • Johnatty SE, Pesaran T, Dolinsky J, Yussuf A, La Duca H, James PA, Mara TAO, Spurdle AB.
    • Hum Mutat. 2021 Jul 10. doi: 10.1002/humu.24256. Epub ahead of print.
    • Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history.
    • Salmi F, Maachi F, Tazzite A, Aboutaib R, Fekkak J, Azeddoug H, Jouhadi H.
    • PLoS One. 2021 Jul 9;16(7):e0254101. doi: 10.1371/journal.pone.0254101.
    • Influence of payer coverage and out-of-pocket costs on ordering of NGS panel tests for hereditary cancer in diverse settings.
    • Lin GA, Trosman JR, Douglas MP, Weldon CB, Scheuner MT, Kurian A, Phillips KA.
    • J Genet Couns. 2021 Jul 7. doi: 10.1002/jgc4.1459. Epub ahead of print.
    • Knowledge, views and expectations for cancer polygenic risk testing in clinical practice: a cross-sectional survey of health professionals.
    • Smit AK, Sharman AR, Espinoza D, Wallingford C, Young MA, Dunlop K, Tiller J, Newson AJ, Meiser B, Cust AE, Yanes T.
    • Clin Genet. 2021 Jul 3. doi: 10.1111/cge.14025. Epub ahead of print.
    • Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.
    • Ren M, Orozco A, Shao K, Albanez A, Ortiz J, Cao B, Wang L, Barreda L, Alvarez CS, Garland L, Wu D, Chung CC, Wang J, Frone M, Ralon S, Argueta V, Orozco R, Gharzouzi E, Dean M.
    • Breast Cancer Res Treat. 2021 Jul 1. doi: 10.1007/s10549-021-06305-5. Epub ahead of print.
    • Multi-Gene Testing Overview with a Clinical Perspective in Metastatic Triple-Negative Breast Cancer.
    • Dameri M, Ferrando L, Cirmena G, Vernieri C, Pruneri G, Ballestrero A, Zoppoli G.
    • Int J Mol Sci. 2021 Jul 1;22(13):7154. doi: 10.3390/ijms22137154.
    • Prevalence of Germline Alterations on Targeted Tumor-Normal Sequencing of Esophagogastric Cancer.
    • Ku GY, Kemel Y, Maron SB, Chou JF, Ravichandran V, Shameer Z, Maio A, Won ES, Kelsen DP, Ilson DH, Capanu M, Strong VE, Molena D, Sihag S, Jones DR, Coit DG, Tuvy Y, Cowie K, Solit DB, Schultz N, Hechtman JF, Offit K, Joseph V, Mandelker D, Janjigian YY, Stadler ZK.
    • JAMA Netw Open. 2021 Jul 1;4(7):e2114753. doi: 10.1001/jamanetworkopen.2021.14753.

    Commentary:

    Expanding Germline Testing to All Patients With Esophagogastric Cancers-Easy to Do, Harder to Justify.

    Press: Gastric Cancer Cases Frequently Harbor Genetic Risk Variants, Suggesting Germline Testing. (GenomeWeb)

    • Universal Genetic Testing to Identify Pathogenic Germline Variants in Patients With Cancer.
    • Sorscher S.
    • JAMA Oncol. 2021 Jul 1;7(7):1070. doi: 10.1001/jamaoncol.2021.1002.
    • Letter, Comment

    Letter, Reply:

    Universal Genetic Testing to Identify Pathogenic Germline Variants in Patients With Cancer—Reply

    Original research:

    Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome.

    • Universal Genetic Testing to Identify Pathogenic Germline Variants in Patients With Cancer.
    • Colas C, De Pauw A, Golmard L.
    • JAMA Oncol. 2021 Jul 1;7(7):1071. doi: 10.1001/jamaoncol.2021.1005.
    • Letter, Comment

    Letter, Reply:

    Universal Genetic Testing to Identify Pathogenic Germline Variants in Patients With Cancer-Reply.

    Original research:

    Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome.

    • Homologous Recombination Deficiency in Pancreatic Cancer: A Systematic Review and Prevalence Meta-Analysis.
    • Casolino R, Paiella S, Azzolina D, Beer PA, Corbo V, Lorenzoni G, Gregori D, Golan T, Braconi C, Froeling FEM, Milella M, Scarpa A, Pea A, Malleo G, Salvia R, Bassi C, Chang DK, Biankin AV.
    • J Clin Oncol. 2021 Jul 1:JCO2003238. doi: 10.1200/JCO.20.03238. Epub ahead of print.
    • Precision medicine in breast cancer: From clinical trials to clinical practice.
    • Crimini E, Repetto M, Aftimos P, Botticelli A, Marchetti P, Curigliano G.
    • Cancer Treat Rev. 2021 Jul;98:102223. doi: 10.1016/j.ctrv.2021.102223. Epub 2021 May 12.
    • Review
    • Targeted Next-generation Sequencing for Reliable Detection of Genetic Status in Breast Cancer.
    • Tariq H, Gul A, Zubair M, Jaffer SR, Zafar N, Sadaf G.
    • J Coll Physicians Surg Pak. 2021 Jul;30(7):837-840. doi: 10.29271/jcpsp.2021.07.837.
    • Expanding the search for germline pathogenic variants for breast cancer. How far should we go and how high should we jump? The missed opportunity!
    • Abdel-Razeq H.
    • Oncol Rev. 2021 Jun 24;15(1):544. doi: 10.4081/oncol.2021.544.
    • Implications of targeted next-generation sequencing for bladder cancer: report of four cases.
    • Khalifa MK, Bakr NM, Ramadan A, Abd Elwahab KM, Desoky E, Nageeb AM, Swellam M.
    • J Genet Eng Biotechnol. 2021 Jun 21;19(1):91. doi: 10.1186/s43141-021-00182-7.
    • A novel BRCA1 duplication and new insights on the spectrum and frequency of germline large genomic rearrangements in BRCA1/BRCA2.
    • Sahin I, Saat H.
    • Mol Biol Rep. 2021 Jun 19. doi: 10.1007/s11033-021-06499-3. Epub ahead of print.
    • Genetic testing for assessment of lynch syndrome in young patients with polyps.
    • Laish I, Goldberg Y, Friedman E, Kedar I, Katz L, Levi Z, Gingold-Belfer R, Kopylov U, Feldman D, Levi-Reznick G, Half E.
    • Dig Liver Dis. 2021 Jun 17:S1590-8658(21)00305-4. doi: 10.1016/j.dld.2021.05.031. Epub ahead of print.
    • Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?
    • Dunn C, Gately L, Gibbs P.
    • JAMA Oncol. 2021 Jun 17. doi: 10.1001/jamaoncol.2021.1904. Epub ahead of print.
    • Letter, Comment

    Letter, Reply:

    Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?-Reply.

    Original research:

    Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

    • A DNA methylation-based liquid biopsy for triple-negative breast cancer.
    • Cristall K, Bidard FC, Pierga JY, Rauh MJ, Popova T, Sebbag C, Lantz O, Stern MH, Mueller CR.
    • NPJ Precis Oncol. 2021 Jun 16;5(1):53. doi: 10.1038/s41698-021-00198-9.
    • Co-occurrence of thyroid and breast cancer is associated with an increased oncogenic SNP burden.
    • Bakos B, Kiss A, Árvai K, Szili B, Deák-Kocsis B, Tobiás B, Putz Z, Ármós R, Balla B, Kósa J, Dank M, Valkusz Z, Takács I, Tabák Á, Lakatos P.
    • BMC Cancer. 2021 Jun 15;21(1):706. doi: 10.1186/s12885-021-08377-4.
    • Prevalence and Clinicopathological Characteristics of Moderate and High-Penetrance Genes in Non-BRCA1/2 Breast Cancer High-Risk Spanish Families.
    • Fonfria M, de Juan Jiménez I, Tena I, Chirivella I, Richart-Aznar P, Segura A, Sánchez-Heras AB, Martinez-Dueñas E.
    • J Pers Med. 2021 Jun 12;11(6):548. doi: 10.3390/jpm11060548.
    • Feasibility of BRCA1/2 Testing of Formalin-Fixed and Paraffin-Embedded Pancreatic Tumor Samples: A Consecutive Clinical Series.
    • Bruno R, Sensi E, Lupi C, Giordano M, Bernardini L, Vivaldi C, Fornaro L, Vasile E, Campani D, Fontanini G.
    • Diagnostics (Basel). 2021 Jun 7;11(6):1046. doi: 10.3390/diagnostics11061046.
    • Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I).
    • Brooks JD, Nabi HH, Andrulis IL, Antoniou AC, Chiquette J, Després P, Devilee P, Dorval M, Droit A, Easton DF, Eisen A, Eloy L, Fienberg S, Goldgar D, Hahnen E, Joly Y, Knoppers BM, Lofters A, Masson JY, Mittmann N, Paquette JS, Pashayan N, Schmutzler R, Stockley T, Tavtigian SV, Walker MJ, Wolfson M, Chiarelli AM, Simard J.
    • J Pers Med. 2021 Jun 4;11(6):511. doi: 10.3390/jpm11060511.
    • From BRCA1 to Polygenic Risk Scores: Mutation-Associated Risks in Breast Cancer-Related Genes.
    • Woodward ER, van Veen EM, Evans DG.
    • Breast Care (Basel). 2021 Jun;16(3):202-213. doi: 10.1159/000515319. Epub 2021 Mar 31.
    • Genetic counselor approaches to BRCA1/2 direct-to-consumer genetic testing results.
    • Burke S, Mork M, Qualmann K, Woodson A, Jin Ha M, Arun B, Kaulfus M.
    • J Genet Couns. 2021 Jun;30(3):803-812. doi: 10.1002/jgc4.1380. Epub 2021 Feb 6.
    • Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina.
    • Solano AR, Mele PG, Jalil FS, Liria NC, Podesta EJ, Gutiérrez LG.
    • Cancers (Basel). 2021 May 31;13(11):2711. doi: 10.3390/cancers13112711.
    • Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?
    • Zuntini R, Bonora E, Pradella LM, Amato LB, Vidone M, De Fanti S, Catucci I, Cortesi L, Medici V, Ferrari S, Gasparre G, Peterlongo P, Sazzini M, Turchetti D.
    • Int J Mol Sci. 2021 May 29;22(11):5832. doi: 10.3390/ijms22115832.
    • Genetic Testing Challenges in Oncology: Immigrant Mislabeled as BRCA-Positive, Regrets Ovary Removal.
    • Ray T.
    • Precision Oncology News. Diagnostics. Molecular Diagnostics. 2021 May 28.
    • Comprehensive analysis of DNA damage repair genes reveals pathogenic variants beyond BRCA and suggests the need for extensive genetic testing in pancreatic cancer.
    • Rapposelli IG, Zampiga V, Cangini I, Arcangeli V, Ravegnani M, Valgiusti M, Pini S, Tamberi S, Bartolini G, Passardi A, Martinelli G, Calistri D, Frassineti GL, Falcini F, Danesi R.
    • BMC Cancer. 2021 May 26;21(1):611. doi: 10.1186/s12885-021-08368-5.
    • A hereditary ovarian cancer family with rare pathogenic splicing mutation: Implications for variant interpretation.
    • Wang K, Ye Y, Bao L, Cheng Y, Cao Y, Yu J.
    • Cancer Genet. 2021 May 26;256-257:127-130. doi: 10.1016/j.cancergen.2021.05.007. Epub ahead of print.
    • Case report
    • Perthera, Side-Out Foundation Partner to Advance Precision Oncology in Breast Cancer.
    • [No author given]
    • Precision Oncology News. Cancer Specialties. Breast Cancer. 2021 May 21.
    • Mutations in BRCA1/2 and Other Panel Genes in Patients With Metastatic Breast Cancer -Association With Patient and Disease Characteristics and Effect on Prognosis.
    • Fasching PA, Yadav S, Hu C, Wunderle M, Häberle L, Hart SN, Rübner M, Polley EC, Lee KY, Gnanaolivu RD, Hadji P, Hübner H, Tesch H, Ettl J, Overkamp F, Lux MP, Ekici AB, Volz B, Uhrig S, Lüftner D, Wallwiener M, Müller V, Belleville E, Untch M, Kolberg HC, Beckmann MW, Reis A, Hartmann A, Janni W, Wimberger P, Taran FA, Fehm TN, Wallwiener D, Brucker SY, Schneeweiss A, Hartkopf AD, Couch FJ.
    • J Clin Oncol. 2021 May 20;39(15):1619-1630. doi: 10.1200/JCO.20.01200. Epub 2021 Mar 29.
    • Germline mutations in a clinic-based series of pregnancy associated breast cancer patients.
    • Zografos E, Korakiti AM, Andrikopoulou A, Rellias I, Dimitrakakis C, Marinopoulos S, Giannos A, Keramopoulos A, Bredakis N, Dimopoulos MA, Zagouri F.
    • BMC Cancer. 2021 May 19;21(1):572. doi: 10.1186/s12885-021-08310-9.
    • Oncologists, Patients Still Face Unpredictable Payor Coverage for Broad Tissue NGS Panels.
    • Hopkins C.
    • Precision Oncology News. Business & Policy. 2021 May 17.
    • News
    • Next-Generation Sequencing-Based Biomarkers in Breast Cancer.
    • Han W, Lim W.
    • Adv Exp Med Biol. 2021 [First Online: 14 May 2021];1187:323-335. doi: 10.1007/978-981-32-9620-6_16.
    • Review, eBook chapter
    • Multigene Panel Testing for Hereditary Cancer and Genetic Counseling.
    • Lee ES, Kim J, Han W.
    • Adv Exp Med Biol. 2021 [First Online: 14 May 2021];1187:455-471. doi: 10.1007/978-981-32-9620-6_24.
    • Review, eBook chapter
    • The Combination of Single-Cell and Next-Generation Sequencing Can Reveal Mosaicism for BRCA2 Mutations and the Fine Molecular Details of Tumorigenesis.
    • Gráf A, Enyedi MZ, Pintér L, Kriston-Pál É, Jaksa G, Bálind Á, Ezer É, Horváth P, Sükösd F, Kiss E, Haracska L.
    • Cancers (Basel). 2021 May 13;13(10):2354. doi: 10.3390/cancers13102354.
    • Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes.
    • Doddato G, Valentino F, Giliberti A, Papa FT, Tita R, Bruno LP, Resciniti S, Fallerini C, Benetti E, Palmieri M, Mencarelli MA, Fabbiani A, Bruttini M, Orrico A, Baldassarri M, Fava F, Lopergolo D, Lo Rizzo C, Lamacchia V, Mannucci S, Pinto AM, Curr A, Mancini V; Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese; Oncologic Multidisciplinary Team, Azienda Usl Toscana Sud Est, Mari F, Renieri A, Ariani F.
    • Front Oncol. 2021 May 7;11:649435. doi: 10.3389/fonc.2021.649435. Erratum in: Front Oncol. 2021 Aug 17;11:740860.
    • Novel Approach Using Administrative Claims to Evaluate Trends in Oncology Multigene Panel Testing for Patients Enrolled in Medicare Advantage Health Plans.
    • Caplan EO, Wong WB, Ferries E, Hulinsky R, Brown VT, Bordenave K, Suehs BT.
    • JCO Precis Oncol. 2021 May 5;5:PO.20.00422. doi: 10.1200/PO.20.00422.
    • Germline Sequencing DNA Repair Genes in 5545 Men With Aggressive and Nonaggressive Prostate Cancer.
    • Darst BF, Dadaev T, Saunders E, Sheng X, Wan P, Pooler L, Xia LY, Chanock S, Berndt SI, Gapstur SM, Stevens V, Albanes D, Weinstein SJ, Gnanapragasam V, Giles GG, Nguyen-Dumont T, Milne RL, Pomerantz M, Schmidt JA, Mucci L, Catalona WJ, Hetrick KN, Doheny KF, MacInnis RJ, Southey MC, Eeles RA, Wiklund F, Kote-Jarai Z, Conti DV, Haiman CA.
    • J Natl Cancer Inst. 2021 May 4;113(5):616-625. doi: 10.1093/jnci/djaa132.
    • Precision medicine testing in ovarian cancer: The growing inequity between patients with commercial vs medicaid insurance.
    • Gamble CR, Huang Y, Wright JD, Hou JY.
    • Gynecol Oncol. 2021 May 3:S0090-8258(21)00345-0. doi: 10.1016/j.ygyno.2021.04.025. Epub ahead of print.
    • Reliable assessment of BRCA1 and BRCA2 germline variants by next-generation sequencing: a multicenter study.
    • Zhang R, Gao P, Han Y, Zhang R, Tan P, Zhou L, Zhang J, Xie J, Li J.
    • Breast Cancer. 2021 May;28(3):672-683. doi: 10.1007/s12282-020-01204-x. Epub 2021 Jan 5.
    • Intronic Breakpoint Signatures Enhance Detection and Characterization of Clinically Relevant Germline Structural Variants.
    • van den Akker J, Hon L, Ondov A, Mahkovec Z, O'Connor R, Chan RC, Lock J, Zimmer AD, Rostamianfar A, Ginsberg J, Leon A, Topper S.
    • J Mol Diagn. 2021 May;23(5):612-629. doi: 10.1016/j.jmoldx.2021.01.015. Epub 2021 Feb 20.

    Press: More than 500 Structural Variants Linked to Hereditary Cancer and Cardiovascular Disorders Identified. (Clinical OMICs)

    • The results of multigene panel sequencing in Slovak HBOC families.
    • Konecny M, Kosova K, Tilandyova P, Wachsmannova L, Baldovic M, Krajcovic J, Patlevicova A, Markus J, Ciernikova S.
    • Neoplasma. 2021 May;68(3):652-664. doi: 10.4149/neo_2021_201204N1307. Epub 2021 Mar 17.
    • Germline Genetics of Prostate Cancer: Prevalence of Risk Variants and Clinical Implications for Disease Management.
    • Doan DK, Schmidt KT, Chau CH, Figg WD.
    • Cancers (Basel). 2021 Apr 29;13(9):2154. doi: 10.3390/cancers13092154.
    • Age of ovarian cancer diagnosis among BRIP1, RAD51C, and RAD51D mutation carriers identified through multi-gene panel testing.
    • Cummings S, Roman SS, Saam J, Bernhisel R, Brown K, Lancaster JM, Usha L.
    • J Ovarian Res. 2021 Apr 29;14(1):61. doi: 10.1186/s13048-021-00809-w.
    • Real-world genetic testing patterns in metastatic castration-resistant prostate cancer.
    • Shore N, Ionescu-Ittu R, Yang L, Laliberté F, Mahendran M, Lejeune D, Yu L, Burgents J, Duh MS, Ghate SR.
    • Future Oncol. 2021 Apr 28. doi: 10.2217/fon-2021-0153. Epub ahead of print.
    • Genetic Variation and the Role of Multigene Panel Testing for Hereditary Breast Cancer: A Single-Institution Experience.
    • Lu K, Smith M, Kanderi T, Verbiar J, Laspe J, Bair L, Torp L.
    • Cureus. 2021 Apr 22;13(4):e14637. doi: 10.7759/cureus.14637.
    • Germline and somatic mutation profile in Cancer patients revealed by a medium-sized pan-Cancer panel.
    • Li Z, Wang H, Zhang Z, Meng X, Liu D, Tang Y.
    • Genomics. 2021 Apr 17:S0888-7543(21)00156-7. doi: 10.1016/j.ygeno.2021.04.029. Epub ahead of print.
    • The Prevent Ovarian Cancer Program (POCP): Identification of women at risk for ovarian cancer using complementary recruitment approaches.
    • Tone AA, McCuaig JM, Ricker N, Boghosian T, Romagnuolo T, Stickle N, Virtanen C, Zhang T, Kim RH, Ferguson SE, May T, Laframboise S, Armel S, Demsky R, Volenik A, Stuart-McEwan T, Shaw P, Oza A, Kamel-Reid S, Stockley T, Bernardini MQ.
    • Gynecol Oncol. 2021 Apr 13:S0090-8258(21)00321-8. doi: 10.1016/j.ygyno.2021.04.011. Epub ahead of print.
    • Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.
    • Singhal D, Hahn CN, Feurstein S, Wee LYA, Moma L, Kutyna MM, Chhetri R, Eshraghi L, Schreiber AW, Feng J, Wang PP, Babic M, Parker WT, Gao S, Moore S, Das S, Thomas D, Pattnaik S, Brown AL, D'Andrea RJ, Poplawski NK, Thomas D, Scott HS, Godley LA, Hiwase DK.
    • Leukemia. 2021 Apr 13. doi: 10.1038/s41375-021-01246-w. Epub ahead of print.
    • Hunting for Hereditary Cancers.
    • May M.
    • Clinical OMICs. 2021 Apr 9. Mar/Apr 2021; 8(2).
    • A Comparison of Patient-Reported Outcomes Following Consent for Genetic Testing Using an Oncologist- or Genetic Counselor-Mediated Model of Care.
    • McCuaig JM, Thain E, Malcolmson J, Keshavarzi S, Armel SR, Kim RH.
    • Curr Oncol. 2021 Apr 8;28(2):1459-1471. doi: 10.3390/curroncol28020138.
    • Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation.
    • Vidal AF, Ferraz RS, El-Husny A, Silva CS, Vinasco-Sandoval T, Magalhães L, Raiol-Moraes M, Barra WF, Pereira CLBL, de Assumpção PP, de Brito LM, Vialle RA, Santos S, Ribeiro-Dos-Santos Â, Ribeiro-Dos-Santos AM.
    • BMC Cancer. 2021 Apr 7;21(1):363. doi: 10.1186/s12885-021-08089-9.
    • Multigene assessment of genetic risk for women for two or more breast cancers.
    • Weitzel JN, Kidd J, Bernhisel R, Shehayeb S, Frankel P, Blazer KR, Turco D, Nehoray B, McGreevy K, Svirsky K, Brown K, Gardiner A, Daly M, Hughes E, Cummings S, Saam J, Slavin TP.
    • Breast Cancer Res Treat. 2021 Apr 7. doi: 10.1007/s10549-021-06201-y. Epub ahead of print.
    • BRCA1/2 Mutation Detection in the Tumor Tissue from Selected Polish Patients with Breast Cancer Using Next Generation Sequencing.
    • Szczerba E, Kaminska K, Mierzwa T, Misiek M, Kowalewski J, Lewandowska MA.
    • Genes (Basel). 2021 Apr 2;12(4):519. doi: 10.3390/genes12040519.
    • Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore.
    • Ng PS, Boonen RA, Wijaya E, Chong CE, Sharma M, Knaup S, Mariapun S, Ho WK, Lim J, Yoon SY, Mohd Taib NA, See MH, Li J, Lim SH, Tan EY, Tan BK, Tan SM, Tan VK, van Dam RM, Rahmat K, Yip CH, Carvalho S, Luccarini C, Baynes C, Dunning AM, Antoniou A, van Attikum H, Easton DF, Hartman M, Teo SH.
    • J Med Genet. 2021 Apr 2:jmedgenet-2020-107471. doi: 10.1136/jmedgenet-2020-107471. Epub ahead of print.
    • Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
    • Cobain EF, Wu YM, Vats P, Chugh R, Worden F, Smith DC, Schuetze SM, Zalupski MM, Sahai V, Alva A, Schott AF, Caram MEV, Hayes DF, Stoffel EM, Jacobs MF, Kumar-Sinha C, Cao X, Wang R, Lucas D, Ning Y, Rabban E, Bell J, Camelo-Piragua S, Udager AM, Cieslik M, Lonigro RJ, Kunju LP, Robinson DR, Talpaz M, Chinnaiyan AM.
    • JAMA Oncol. 2021 Apr 1;7(4):525-533. doi: 10.1001/jamaoncol.2020.7987.

    Editorial:

    Precision Medicine in Oncology-Toward the Integrated Targeting of Somatic and Germline Genomic Aberrations.

    Letter, Comment:

    Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?

    Letter, Reply:

    Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?-Reply.

    Press: Germline Testing: Variant in 1 in 6 Cases of Advanced Cancer. (Medscape Oncology)

    • Genetic Variants in Patients With a Family History of Pancreatic Cancer: Impact of Multigene Panel Testing.
    • Zhu H, Welinsky S, Soper ER, Brown KL, Abul-Husn NS, Lucas AL.
    • Pancreas. 2021 Apr 1;50(4):602-606. doi: 10.1097/MPA.0000000000001804.
    • Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.
    • Kim J, Gianferante M, Karyadi DM, Hartley SW, Frone MN, Luo W, Robison LL, Armstrong GT, Bhatia S, Dean M, Yeager M, Zhu B, Song L, Sampson JN, Yasui Y, Leisenring WM, Brodie SA, de Andrade KC, Fortes FP, Goldstein AM, Khincha PP, Machiela MJ, McMaster ML, Nickerson ML, Oba L, Pemov A, Pinheiro M, Rotunno M, Santiago K, Wegman-Ostrosky T, Diver WR, Teras L, Freedman ND, Hicks BD, Zhu B, Wang M, Jones K, Hutchinson AA, Dagnall C, Savage SA, Tucker MA, Chanock SJ, Morton LM, Stewart DR, Mirabello L.
    • JNCI Cancer Spectr. 2021 Jan 23 [eCollection 2021 Apr];5(2):pkab007. doi: 10.1093/jncics/pkab007.
    • Solid Pseudopapillary Neoplasm of the Pancreas and Abdominal Desmoid Tumor in a Patient Carrying Two Different BRCA2 Germline Mutations: New Horizons from Tumor Molecular Profiling.
    • Mafficini A, Lawlor RT, Ghimenton C, Antonello D, Cantù C, Paolino G, Nottegar A, Piredda ML, Salvia R, Milella M, Dei Tos AP, Fassan M, Scarpa A, Luchini C.
    • Genes (Basel). 2021 Mar 26;12(4):481. doi: 10.3390/genes12040481.
    • Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer.
    • Nguyen-Dumont T, Dowty JG, MacInnis RJ, Steen JA, Riaz M, Dugué PA, Renault AL, Hammet F, Mahmoodi M, Theys D, Tsimiklis H, Severi G, Bolton D, Lacaze P, Sebra R, Schadt E, McNeil J, Giles GG, Milne RL, Southey MC.
    • Cancers (Basel). 2021 Mar 24;13(7):1495. doi: 10.3390/cancers13071495.
    • Intermountain Gets National Stage, Myriad Adds Tumor Profiling Panel With Combined Test Offering.
    • Ray T.
    • GenomeWeb. Business & Policy. Business News. 2021 Mar 24.
    • News
    • Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and Impact on patients.
    • Nambot S, Bertolone G, Sawka C, Cosset E, Goussot V, Derangère V, Boidot R, Baurand A, Robert M, Coutant C, Loustalot C, Thauvin-Robinet C, Ghiringhelli F, Lançon A, Populaire C, Damette A, Collonge-Rame MA, Meunier-Beillard N, Lejeune C, Albuisson J, Faivre L.
    • Eur J Med Genet. 2021 Mar 19:104196. doi: 10.1016/j.ejmg.2021.104196. Epub ahead of print.
    • Knowledge and psychosocial impact of genetic counseling and multigene panel testing among individuals with ovarian cancer.
    • Pozzar RA, Hong F, Xiong N, Stopfer JE, Nayak MM, Underhill-Blazey M.
    • Fam Cancer. 2021 Mar 10. doi: 10.1007/s10689-021-00240-6. Epub ahead of print.
    • Genetic Testing for Breast and Ovarian Cancer: What Has Changed and What Still Needs To Change?
    • Lyss AP.
    • Medscape. News & Perspective. 2021 Mar 8.

    Original research:

    Time Trends in Receipt of Germline Genetic Testing and Results for Women Diagnosed With Breast Cancer or Ovarian Cancer, 2012-2019.

    • Health care professionals' attitudes toward cancer gene panel testing.
    • Klugman S, Schnabel F, Alim I, Loke J, Arun B, Chun Kim J, Ostrer H.
    • Breast J. 2021 Mar 6. doi: 10.1111/tbj.14210. Epub ahead of print.
    • Commentary
    • Clinical Utility of Next-Generation Sequencing-Based Panel Testing under the Universal Health-Care System in Japan: A Retrospective Analysis at a Single University Hospital.
    • Inagaki C, Maeda D, Hatake K, Sato Y, Hashimoto K, Sakai D, Yachida S, Nonomura N, Satoh T.
    • Cancers (Basel). 2021 Mar 5;13(5):1121. doi: 10.3390/cancers13051121.
    • Germline FFPE inherited cancer panel testing in deceased family members: implications for clinical management of unaffected relatives.
    • Bennett S, Alexander E, Fraser H, Bowers N, Wallace A, Woodward ER, Lalloo F, Quinn AM, Huang S, Schlecht H, Evans DG.
    • Eur J Hum Genet. 2021 Mar 2. doi: 10.1038/s41431-021-00817-w. Epub ahead of print.
    • Myriad Genetics, Intermountain Healthcare Collaborate for Cancer Testing Service.
    • [No author given]
    • GenomeWeb. Business & Policy. Business News. 2021 Mar 2.
    • Next Generation Sequencing-Based Germline Panel Testing for Breast and Ovarian Cancers in Pakistan.
    • Tariq H, Gul A, Khadim T, Ud-Din H, Tipu HN, Asif M, Ahmed R.
    • Asian Pac J Cancer Prev. 2021 Mar 1;22(3):719-724. doi: 10.31557/APJCP.2021.22.3.719.
    • Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing.
    • Lertwilaiwittaya P, Roothumnong E, Nakthong P, Dungort P, Meesamarnpong C, Tansa-Nga W, Pongsuktavorn K, Wiboonthanasarn S, Tititumjariya W, Thongnoppakhun W, Chanprasert S, Limwongse C, Pithukpakorn M.
    • Breast Cancer Res Treat. 2021 Mar 1. doi: 10.1007/s10549-021-06152-4. Epub ahead of print.
    • Genetic Testing Challenges in Oncology: Forged Genetic Test Report Leads to Incorrect Management.
    • Ray T.
    • Precision Oncology News. Diagnostics. 2021 Mar 1.
    • Germline and tumor BRCA1/2 mutations in Chinese high grade serous ovarian cancer patients.
    • Ji G, Yao Q, Bao L, Zhang J, Bai Q, Zhu X, Tu X, Bi R, Zhou X.
    • Ann Transl Med. 2021 Mar;9(6):453. doi: 10.21037/atm-20-6827.
    • Homologous recombination repair gene mutations show no survival benefits in Chinese high-grade serous ovarian cancer patients.
    • Feng Z, Wen H, Ju X, Bi R, Chen X, Yang W, Wu X.
    • Ann Transl Med. 2021 Mar;9(5):364. doi: 10.21037/atm-20-5136.
    • Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer.
    • Bandeira G, Rocha K, Lazar M, Ezquina S, Yamamoto G, Varela M, Takahashi V, Aguena M, Gollop T, Zatz M, Passos-Bueno MR, Krepischi A, Okamoto OK.
    • Breast Cancer. 2021 Mar;28(2):346-354. doi: 10.1007/s12282-020-01165-1. Epub 2020 Sep 28.
    • New germline mutations in BRCA1, ATM, MUTYH, and RAD51D genes in Tuvans early-onset breast cancer patients.
    • Gervas P, Molokov A, Ivanova A, Panferova Y, Kiselev A, Chernyshova A, Pisareva L, Choynzonov E, Cherdyntseva N.
    • Exp Oncol. 2021 Mar;43(1):52-55. doi: 10.32471/exp-oncology.2312-8852.vol-43-no-1.15587.
    • Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors.
    • Fiala EM, Jayakumaran G, Mauguen A, Kennedy JA, Bouvier N, Kemel Y, Fleischut MH, Maio A, Salo-Mullen EE, Sheehan M, Arnold AG, Latham A, Carlo MI, Cadoo K, Murkherjee S, Slotkin EK, Trippett T, Glade Bender J, Meyers PA, Wexler L, Dela Cruz FS, Cheung NK, Basu E, Kentsis A, Ortiz M, Francis JH, Dunkel IJ, Khakoo Y, Gilheeney S, Farouk Sait S, Forlenza CJ, Sulis M, Karajannis M, Modak S, Gerstle JT, Heaton TE, Roberts S, Yang C, Jairam S, Vijai J, Topka S, Friedman DN, Stadler ZK, Robson M, Berger MF, Schultz N, Ladanyi M, O'Reilly RJ, Abramson DH, Ceyhan-Birsoy O, Zhang L, Mandelker D, Shukla NN, Kung AL, Offit K, Zehir A, Walsh MF.
    • Nat Cancer. 2021 Mar;2:357-365. doi: 10.1038/s43018-021-00172-1. Epub 2021 Feb 15.

    Press: Study Demonstrates the Reasons to Screen Children with Cancer for Inherited Cancer Genes. (Memorial Sloan Kettering Cancer Center. News & Information.)

    Press: MSK Researchers Detail Inherited Cancer Risk in Pediatric Patients. (Clinical OMICs)

    • Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
    • Ferrer-Avargues R, Castillejo MI, Dámaso E, Díez-Obrero V, Garrigos N, Molina T, Codoñer-Alejos A, Segura Á, Sánchez-Heras AB, Castillejo A, Soto JL.
    • Cancer Commun (Lond). 2021 Feb 25. doi: 10.1002/cac2.12134. Epub ahead of print.
    • Case Report: Detection of a Novel Germline PALB2 Deletion in a Young Woman With Hereditary Breast Cancer: When the Patient's Phenotype History Doesn't Lie.
    • De Angelis C, Nardelli C, Concolino P, Pagliuca M, Setaro M, De Paolis E, De Placido P, Forestieri V, Scaglione GL, Ranieri A, Lombardo B, Pastore L, De Placido S, Capoluongo E.
    • Front Oncol. 2021 Feb 24;11:602523. doi: 10.3389/fonc.2021.602523.
    • Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis.
    • Sandoval RL, Leite ACR, Barbalho DM, Assad DX, Barroso R, Polidorio N, Dos Anjos CH, de Miranda AD, Ferreira ACSM, Fernandes GDS, Achatz MI.
    • PLoS One. 2021 Feb 19;16(2):e0247363. doi: 10.1371/journal.pone.0247363.
    • Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer.
    • Lukomska A, Menkiszak J, Gronwald J, Tomiczek-Szwiec J, Szwiec M, Jasiówka M, Blecharz P, Kluz T, Stawicka-Nielacna M, Madry R, Bialkowska K, Prajzendanc K, Kluzniak W, Cybulski C, Debniak T, Huzarski T, Toloczko-Grabarek A, Byrski T, Baszuk P, Narod SA, Lubinski J, Jakubowska A.
    • Cancers (Basel). 2021 Feb 18;13(4):849. doi: 10.3390/cancers13040849.
    • Choose and stay on one out of two paths: distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer.
    • Ripperger T, Evans D, Malkin D, Kratz CP.
    • Fam Cancer. 2021 Feb 12. doi: 10.1007/s10689-021-00228-2. Epub ahead of print.
    • Globally Rare BRCA2 Variants With Founder Haplotypes in the South African Population: Implications for Point-of-Care Testing Based on a Single-Institution BRCA1/2 Next-Generation Sequencing Study.
    • Oosthuizen J, Kotze MJ, Van Der Merwe N, Myburgh EJ, Bester P, van der Merwe NC.
    • Front Oncol. 2021 Feb 12;10:619469. doi: 10.3389/fonc.2020.619469.
    • Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.
    • Moradian MM, Babikyan DT, Markarian S, Petrosyan JG, Avanesian N, Arutunyan T, Sarkisian TF.
    • Hum Genome Var. 2021 Feb 9;8(1):9. doi: 10.1038/s41439-021-00140-2.
    • Time Trends in Receipt of Germline Genetic Testing and Results for Women Diagnosed With Breast Cancer or Ovarian Cancer, 2012-2019.
    • Kurian AW, Ward KC, Abrahamse P, Bondarenko I, Hamilton AS, Deapen D, Morrow M, Berek JS, Hofer TP, Katz SJ.
    • J Clin Oncol. 2021 Feb 9:JCO2002785. doi: 10.1200/JCO.20.02785. Epub ahead of print.

    Research news: Genetic Testing for Breast and Ovarian Cancer: What Has Changed and What Still Needs To Change? (Medscape)

    • Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel.
    • Jiang W, Li L, Ke CF, Wang W, Xiao BY, Kong LH, Tang JH, Li Y, Wu XD, Hu Y, Guo WH, Wang SZ, Wan DS, Xu RH, Pan ZZ, Ding PR.
    • J Med Genet. 2021 Feb 9:jmedgenet-2020-107230. doi: 10.1136/jmedgenet-2020-107230. Epub ahead of print.
    • Gene Screenings Hold Disease Clues, but Unexplained Anomalies Often Raise Fears.
    • Bennett C.
    • KHN [Kaiser Health News]. 2021 Feb 9.

    Press: Ambiguous genetic test results can be unsettling. Worse, they can lead to needless surgeries. (Washington Post)

    Press: My Gene Counsel Quoted in Washington Post and Kaiser Health News. (My Gene Counsel)

    • Implementing genomic screening in diverse populations.
    • Abul-Husn NS, Soper ER, Braganza GT, Rodriguez JE, Zeid N, Cullina S, Bobo D, Moscati A, Merkelson A, Loos RJF, Cho JH, Belbin GM, Suckiel SA, Kenny EE.
    • Genome Med. 2021 Feb 5;13(1):17. doi: 10.1186/s13073-021-00832-y.
    • Clinical significance of comprehensive genomic profiling tests covered by public insurance in patients with advanced solid cancers in Hokkaido, Japan.
    • Kikuchi J, Ohhara Y, Takada K, Tanabe H, Hatanaka K, Amano T, C Hatanaka K, Hatanaka Y, Mitamura T, Kato M, Shibata Y, Yabe I, Endoh A, Komatsu Y, Matsuno Y, Sugiyama M, Manabe A, Sakurai A, Takahashi M, Naruse H, Torimoto Y, Dosaka-Akita H, Kinoshita I.
    • Jpn J Clin Oncol. 2021 Feb 3:hyaa277. doi: 10.1093/jjco/hyaa277. Epub ahead of print.
    • Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome.
    • Samadder NJ, Riegert-Johnson D, Boardman L, Rhodes D, Wick M, Okuno S, Kunze KL, Golafshar M, Uson PLS Jr, Mountjoy L, Ertz-Archambault N, Patel N, Rodriguez EA, Lizaola-Mayo B, Lehrer M, Thorpe CS, Yu NY, Esplin ED, Nussbaum RL, Sharp RR, Azevedo C, Klint M, Hager M, Macklin-Mantia S, Bryce AH, Bekaii-Saab TS, Sekulic A, Stewart AK.
    • JAMA Oncol. 2021 Feb 1;7(2):230-237. doi: 10.1001/jamaoncol.2020.6252. Erratum in: JAMA Oncol. 2021 Feb 1;7(2):312.

    Letter, Comment:

    Universal Genetic Testing to Identify Pathogenic Germline Variants in Patients With Cancer.

    Letter, Comment:

    Universal Genetic Testing to Identify Pathogenic Germline Variants in Patients With Cancer.

    Letter, Reply:

    Universal Genetic Testing to Identify Pathogenic Germline Variants in Patients With Cancer-Reply.

    • Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients.
    • Lattimore V, Parsons MT, Spurdle AB, Pearson J, Lehnert K, Sullivan J, Lintott C, Bawden S, Morrin H, Robinson B, Walker L.
    • Breast Cancer Res Treat. 2021 Feb;185(3):583-590. doi: 10.1007/s10549-020-05986-8. Epub 2020 Oct 28.
    • Male Breast Cancer Risk Assessment and Screening Recommendations in High-Risk Men Who Undergo Genetic Counseling and Multigene Panel Testing.
    • Gaddam S, Heller SL, Babb JS, Gao Y.
    • Clin Breast Cancer. 2021 Feb;21(1):e74-e79. doi: 10.1016/j.clbc.2020.07.014. Epub 2020 Jul 25.
    • Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition.
    • Cavaillé M, Uhrhammer N, Privat M, Ponelle-Chachuat F, Gay-Bellile M, Lepage M, Molnar I, Viala S, Bidet Y, Bignon YJ.
    • Genes Chromosomes Cancer. 2021 Feb;60(2):73-78. doi: 10.1002/gcc.22911. Epub 2020 Nov 10.
    • Implementing Systematic Genetic Counseling and Multigene Germline Testing for Individuals With Pancreatic Cancer.
    • Chittenden A, Haraldsdottir S, Ukaegbu C, Underhill-Blazey M, Gaonkar S, Uno H, Brais LK, Perez K, Wolpin BM, Syngal S, Yurgelun MB.
    • JCO Oncol Pract. 2021 Feb;17(2):e236-e247. doi: 10.1200/OP.20.00678. Epub 2021 Jan 13.
    • The impact of the number of tests presented and a provider recommendation on decisions about genetic testing for cancer risk.
    • Schwartz MLB, Klein WMP, Erby LAH, Smith CH, Roter DL.
    • Patient Educ Couns. 2021 Feb;104(2):265-275. doi: 10.1016/j.pec.2020.09.020. Epub 2020 Sep 18.
    • Cost-Effectiveness of Targeted Genetic Testing for Breast and Ovarian Cancer: A Systematic Review.
    • Koldehoff A, Danner M, Civello D, Rhiem K, Stock S, Müller D.
    • Value Health. 2021 Feb;24(2):303-312. doi: 10.1016/j.jval.2020.09.016. Epub 2021 Jan 5.
    • Review
    • Germline pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with high and moderate risks for multiple cancers.
    • Hall MJ, Bernhisel R, Hughes E, Larson K, Rosenthal ET, Singh NA, Lancaster JM, Kurian AW.
    • Cancer Prev Res (Phila). 2021 Jan 28:canprevres.0448.2020. doi: 10.1158/1940-6207.CAPR-20-0448. Epub ahead of print.
    • Germline copy number variations in BRCA1/2 negative families: Role in the molecular etiology of hereditary breast cancer in Tunisia.
    • Boujemaa M, Hamdi Y, Mejri N, Romdhane L, Ghedira K, Bouaziz H, El Benna H, Labidi S, Dallali H, Jaidane O, Ben Nasr S, Haddaoui A, Rahal K, Abdelhak S, Boussen H, Boubaker MS.
    • PLoS One. 2021 Jan 27;16(1):e0245362. doi: 10.1371/journal.pone.0245362.
    • Whole-exome sequencing reveals germline-mutated small cell lung cancer subtype with favorable response to DNA repair-targeted therapies.
    • Tlemsani C, Takahashi N, Pongor L, Rajapakse VN, Tyagi M, Wen X, Fasaye GA, Schmidt KT, Desai P, Kim C, Rajan A, Swift S, Sciuto L, Vilimas R, Webb S, Nichols S, Figg WD, Pommier Y, Calzone K, Steinberg SM, Wei JS, Guha U, Turner CE, Khan J, Thomas A.
    • Sci Transl Med. 2021 Jan 27;13(578):eabc7488. doi: 10.1126/scitranslmed.abc7488.

    Research News: Small Cell Lung Cancer Study Uncovers Disease-Associated Germline Mutations. (GenomeWeb)

    • Economic impact of multigene panel testing for hereditary breast and ovarian cancer.
    • Byfield SD, Wei H, DuCharme M, Lancaster JM.
    • J Comp Eff Res. 2021 Jan 25. doi: 10.2217/cer-2020-0192. Epub ahead of print.
    • BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.
    • Rofes P, Del Valle J, Torres-Esquius S, Feliubadaló L, Stradella A, Moreno-Cabrera JM, López-Doriga A, Munté E, De Cid R, Campos O, Cuesta R, Teulé Á, Grau È, Sanz J, Capellá G, Díez O, Brunet J, Balmaña J, Lázaro C.
    • Genes (Basel). 2021 Jan 23;12(2):150. doi: 10.3390/genes12020150.
    • Mutational Landscape for Indian Hereditary Breast and Ovarian Cancer Cohort Suggests Need for Identifying Population Specific Genes and Biomarkers for Screening.
    • Kadri MSN, Patel KM, Bhargava PA, Shah FD, Badgujar NV, Tarapara BV, Patel PS, Shaikh MI, Shah K, Patel A, Pandya S, Vora H, Joshi CG, Joshi MN.
    • Front Oncol. 2021 Jan 21;10:568786. doi: 10.3389/fonc.2020.568786.
    • A novel frequent BRCA1 recurrent variant c.5117G > A (p.Gly1206Glu) identified after 20 years of BRCA1/2 research in the Baltic region: cohort study and literature review.
    • Loza P, Irmejs A, Daneberga Z, Miklasevics E, Berga-Svitina E, Subatniece S, Maksimenko J, Trofimovics G, Tauvena E, Ukleikins S, Gardovskis J.
    • Hered Cancer Clin Pract. 2021 Jan 19;19(1):11. doi: 10.1186/s13053-021-00168-z.
    • Implications of Multigene Panel Testing on Psychosocial Outcomes: A Comparison of Patients With Pancreatic and Breast or Ovarian Cancer.
    • Koptiuch C, Espinel WF, Kohlmann WK, Zhao J, Kaphingst KA.
    • JCO Precis Oncol. 2021 Jan 19;5:PO.20.00199. doi: 10.1200/PO.20.00199.
    • Four novel BRCA variants found in Chinese hereditary breast cancer patients by next-generation sequencing.
    • Liu PF, Zhuo ZL, Xie F, Wang S, Zhao XT.
    • Clin Chim Acta. 2021 Jan 18:S0009-8981(21)00019-X. doi: 10.1016/j.cca.2021.01.010. Epub ahead of print.
    • Prevalence and reclassification of BRCA1 and BRCA2 variants in a large, unselected Chinese Han breast cancer cohort.
    • Liu Y, Wang H, Wang X, Liu J, Li J, Wang X, Zhang Y, Bai Z, Zhou Q, Wu Y, Shen Y, Weng X, Liu F, Guo J, Di L, Gires O, Zhang Z, Chen Y, Wang H.
    • J Hematol Oncol. 2021 Jan 18;14(1):18. doi: 10.1186/s13045-020-01010-0.
    • Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.
    • Scott TM, Campbell IM, Hernandez-Garcia A, Lalani SR, Liu P, Shaw CA, Rosenfeld JA, Scott DA.
    • J Med Genet. 2021 Jan 18:jmedgenet-2020-107317. doi: 10.1136/jmedgenet-2020-107317. Epub ahead of print.
    • Case report
    • Challenges of Genomic Testing for Hereditary Breast and Ovarian Cancers.
    • McAlarnen L, Stearns K, Uyar D.
    • Appl Clin Genet. 2021 Jan 14;14:1-9. doi: 10.2147/TACG.S245021.
    • Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer.
    • Lepkes L, Kayali M, Blümcke B, Weber J, Suszynska M, Schmidt S, Borde J, Klonowska K, Wappenschmidt B, Hauke J, Kozlowski P, Schmutzler RK, Hahnen E, Ernst C.
    • Cancers (Basel). 2021 Jan 1;13(1):118. doi: 10.3390/cancers13010118.
    • New surveillance guidelines for Li-Fraumeni and hereditary TP53 related cancer syndrome: implications for germline TP53 testing in breast cancer.
    • Evans DG, Woodward ER.
    • Fam Cancer. 2021 Jan;20(1):1-7. doi: 10.1007/s10689-020-00207-z.
    • The current landscape of molecular profiling in the treatment of epithelial ovarian cancer.
    • Haunschild CE, Tewari KS.
    • Gynecol Oncol. 2021 Jan;160(1):333-345. doi: 10.1016/j.ygyno.2020.09.043. Epub 2020 Oct 11.
    • Review
    • Germline multigene panel testing revealed a BRCA2 pathogenic variant in a patient with suspected Lynch syndrome.
    • Yoshihama T, Hirasawa A, Sugano K, Yoshida T, Ushiama M, Ueki A, Akahane T, Nanki Y, Sakai K, Makabe T, Yamagami W, Susumu N, Kameyama K, Kosaki K, Aoki D.
    • Int Cancer Conf J. 2020 Oct 9;10(1):6-10. doi: 10.1007/s13691-020-00449-9. eCollection 2021 Jan.
    • Prevalence of Lynch syndrome in women with mismatch repair-deficient ovarian cancer.
    • Hodan R, Kingham K, Cotter K, Folkins AK, Kurian AW, Ford JM, Longacre T.
    • Cancer Med. 2020 Dec 25. doi: 10.1002/cam4.3688. Epub ahead of print.
    • Genetic Testing Challenges in Oncology: Woman Without High Breast Cancer Risk Recommended Surgery.
    • Ray T.
    • Precision Oncology News. 2020 Dec 22.
    • Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.
    • Felicio PS, Grasel RS, Campacci N, de Paula AE, Galvão HCR, Torrezan GT, Sabato CS, Fernandes GC, Souza CP, Michelli RD, Andrade CE, Barros BDF, Matsushita MM, Revil T, Ragoussis J, Couch FJ, Hart SN, Reis RM, Melendez ME, Tonin PN, Carraro DM, Palmero EI.
    • Hum Mutat. 2020 Dec 16. doi: 10.1002/humu.24158. Epub ahead of print.
    • Psychosocial outcomes following germline multigene panel testing in an ethnically and economically diverse cohort of patients.
    • Culver JO, Ricker CN, Bonner J, Kidd J, Sturgeon D, Hodan R, Kingham K, Lowstuter K, Chun NM, Lebensohn AP, Rowe-Teeter C, Levonian P, Partynski K, Lara-Otero K, Hong C, Morales Pichardo J, Mills MA, Brown K, Lerman C, Ladabaum U, McDonnell KJ, Ford JM, Gruber SB, Kurian AW, Idos GE.
    • Cancer. 2020 Dec 15. doi: 10.1002/cncr.33357. Epub ahead of print.
    • Effect of Germline Mutations in Homologous Recombination Repair Genes on Overall Survival of Patients with Pancreatic Adenocarcinoma.
    • Yadav S, Kasi PM, Bamlet WR, Ho TP, Polley EC, Hu C, Hart SN, Rabe KG, Boddicker NJ, Gnanaolivu RD, Lee KY, Lindstrom TH, Petersen GM, Couch FJ, McWilliams RR.
    • Clin Cancer Res. 2020 Dec 15;26(24):6505-6512. doi: 10.1158/1078-0432.CCR-20-1788. Epub 2020 Oct 7.

    Commentary, Review:

    Germline Mutations in Other Homologous Recombination Repair-Related Genes Than BRCA1/2: Predictive or Prognostic Factors?

    • Population-based Screening for Hereditary Colorectal Cancer Variants in Japan.
    • Fujita M, Liu X, Iwasaki Y, Terao C, Mizukami K, Kawakami E, Takata S, Inai C, Aoi T, Mizukoshi M, Maejima K, Hirata M, Murakami Y, Kamatani Y, Kubo M, Akagi K, Matsuda K, Nakagawa H, Momozawa Y.
    • Clin Gastroenterol Hepatol. 2020 Dec 10:S1542-3565(20)31664-5. doi: 10.1016/j.cgh.2020.12.007. Epub ahead of print.
    • Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?
    • Lovejoy LA, Turner CE, Wells JM, Shriver CD, Ellsworth RE.
    • Genes (Basel). 2020 Dec 8;11(12):E1469. doi: 10.3390/genes11121469.
    • Exome sequencing identifies a recurrent variant in SERPINA3 associating with hereditary susceptibility to breast cancer.
    • Koivuluoma S, Tervasmäki A, Kauppila S, Winqvist R, Kumpula T, Kuismin O, Moilanen J, Pylkäs K.
    • Eur J Cancer. 2020 Dec 3;143:46-51. doi: 10.1016/j.ejca.2020.10.033. Epub ahead of print.
    • Ovarian cancer risk assessment in the era of next-generation sequencing.
    • Bonadio RC, Crespo JR, Estevez-Diz MDP.
    • Ann Transl Med. 2020 Dec;8(24):1704. doi: 10.21037/atm-20-1582.
    • Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma.
    • Seo SH, Kim JH, Kim MJ, Cho SI, Kim SJ, Kang H, Shin CS, Park SS, Lee KE, Seong MW.
    • Endocrinol Metab (Seoul). 2020 Dec;35(4):909-917. doi: 10.3803/EnM.2020.756. Epub 2020 Dec 23.
    • Prevalence of pathogenic variants in actionable genes in advanced ovarian cancer: a next-generation sequencing analysis of a nationwide registry study.
    • Kang S, Yu YL, Cho SY, Park SY.
    • Eur J Cancer. 2020 Dec;141:185-192. doi: 10.1016/j.ejca.2020.09.036. Epub 2020 Nov 6.
    • Pathogenic Germline Mutations of DNA Repair Pathway Components in Early-Onset Sporadic Colorectal Polyp and Cancer Patients.
    • Chang PY, Chang SC, Wang MC, Chen JS, Tsai WS, You JF, Chen CC, Liu HL, Chiang JM.
    • Cancers (Basel). 2020 Nov 28;12(12):3560. doi: 10.3390/cancers12123560.
    • Expanded Panel Testing Uncovered My ATM Mutation.
    • Horton M.
    • FORCE. Blog. 2020 Nov 23.
    • Multigene Panel Germline Testing of Cancer Patients Detects Unexpected Pathogenic Variants.
    • Curtin C.
    • Precision Oncology News. 2020 Nov 23.
    • Conference News
    • Cancer Previvors in an Active Duty Service Women Population: An Opportunity for Prevention and Increased Force Readiness.
    • Lovejoy LA, Turner CE, Shriver CD, Ellsworth RE.
    • Mil Med. 2020 Nov 18:usaa485. doi: 10.1093/milmed/usaa485. Epub ahead of print.
    • Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic.
    • Benusiglio PR, Korenbaum C, Vibert R, Ezenfis J, Geoffron S, Paul C, Richard S, Byrde V, Lejeune M, Guillerm E, Basset N, Lotz JP, Chabbert-Buffet N, Gligorov J, Coulet F.
    • Eur J Med Genet. 2020 Nov 10;63(12):104098. doi: 10.1016/j.ejmg.2020.104098. Epub ahead of print.
    • Identification of Novel BRCA1 and RAD50 Mutations Associated With Breast Cancer Predisposition in Tunisian Patients.
    • Mighri N, Hamdi Y, Boujemaa M, Othman H, Ben Nasr S, El Benna H, Mejri N, Labidi S, Ayari J, Jaidene O, Bouaziz H, Ben Rekaya M, M'rad R, Haddaoui A, Rahal K, Boussen H, Boubaker S, Abdelhak S.
    • Front Genet. 2020 Nov 6;11:552971. doi: 10.3389/fgene.2020.552971.
    • Multiple cancer susceptible genes sequencing in BRCA-negative breast cancer with high hereditary risk.
    • Lang GT, Shi JX, Huang L, Cao AY, Zhang CH, Song CG, Zhuang ZG, Hu X, Huang W, Shao ZM.
    • Ann Transl Med. 2020 Nov;8(21):1417. doi: 10.21037/atm-20-2999.
    • BRCA testing in women with high-grade serous ovarian cancer: gynecologic oncologist-initiated testing compared with genetics referral.
    • Piedimonte S, Power J, Foulkes WD, Weber E, Palma L, Schiavi A, Ambrosio E, Konci R, Gilbert L, Jardon K, Baret L, Zeng X.
    • Int J Gynecol Cancer. 2020 Nov;30(11):1757-1761. doi: 10.1136/ijgc-2020-001261. Epub 2020 Aug 5.
    • Implications of Incidental Germline Findings Identified In the Context of Clinical Whole Exome Sequencing for Guiding Cancer Therapy.
    • Schneider BP, Stout LA, Philips S, Schroeder C, Scott SF, Hunter C, Kassem N, Kiel PJ, Radovich M.
    • JCO Precis Oncol. 2020 Nov;4:1109-1121. doi: 10.1200/PO.19.00354.
    • Study: Inherited gene mutations found in pancreatic cancer families in Spain.
    • [No author given]
    • FORCE. XRAY. 2020 Oct 29.

    Original research:

    A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants.

    • NGS Panel Testing of Triple-Negative Breast Cancer Patients in Cyprus: A Study of BRCA-Negative Cases.
    • Zanti M, Loizidou MA, Michailidou K, Pirpa P, Machattou C, Marcou Y, Kyriakou F, Kakouri E, Tanteles GA, Spanou E, Spyrou GM, Kyriacou K, Hadjisavvas A.
    • Cancers (Basel). 2020 Oct 27;12(11):3140. doi: 10.3390/cancers12113140.
    • Case Report: Co-Existence of BRCA2 and PALB2 Germline Mutations in Familial Prostate Cancer With Solitary Lung Metastasis.
    • Tang T, Wang LA, Wang P, Tong D, Liu G, Zhang J, Dai N, Zhang Y, Yuan G, Geary K, Zhang D, Liu Q, Jiang J.
    • Front Oncol. 2020 Oct 26;10:564694. doi: 10.3389/fonc.2020.564694. PMID: 33194641; PMCID: PMC7649358.
    • Prevalence of Germline Pathogenic and Likely Pathogenic Variants in Patients With Second Breast Cancers.
    • Yao K KA, Clifford J, Li S, LaDuca H, Hulick P, Gutierrez S, Black MH.
    • JNCI Cancer Spectr. 2020 Oct 26;4(6):pkaa094. doi: 10.1093/jncics/pkaa094.
    • Genetic Testing Challenges in Oncology: Surgeon Recommends Mastectomy for Woman With RAD50 Mutation.
    • Ray T.
    • Precision Oncology News. Diagnostics. 2020 Oct 22.

    Press: Many supposed breast cancer risk genes don’t raise risk, studies find. (The Philadelphia Inquirer)

    Blog post: My Gene Counsel Quoted in The Philadelphia Inquirer. (My Gene Counsel)

    Original research:

    Cancer risk management among female BRCA1/2, PALB2, CHEK2, and ATM carriers.

    • Genetic testing for breast cancer risk, from BRCA1/2 to a seven gene panel: an ethical analysis.
    • Gustavsson E, Galvis G, Juth N.
    • BMC Med Ethics. 2020 Oct 21;21(1):102. doi: 10.1186/s12910-020-00545-8.
    • Frequency and spectrum of mutations across 94 cancer predisposition genes in African American women with invasive breast cancer.
    • Lovejoy LA, Rummel SK, Turner CE, Shriver CD, Ellsworth RE.
    • Fam Cancer. 2020 Oct 21. doi: 10.1007/s10689-020-00213-1. Epub ahead of print.
    • Germline testing for homologous recombination repair genes - opportunities and challenges.
    • Hirsch S, Gieldon L, Sutter C, Dikow N, Schaaf CP.
    • Genes Chromosomes Cancer. 2020 Oct 20. doi: 10.1002/gcc.22900. Epub ahead of print.
    • Review
    • BRCA1 and BRCA2 genes mutations among high risk breast cancer patients in Jordan.
    • Abu-Helalah M, Azab B, Mubaidin R, Ali D, Jafar H, Alshraideh H, Drou N, Awidi A.
    • Sci Rep. 2020 Oct 16;10(1):17573. doi: 10.1038/s41598-020-74250-2.
    • The mediating effects of public genomic knowledge in precision medicine implementation: A structural equation model approach.
    • Mogaka JJO, Chimbari MJ.
    • PLoS One. 2020 Oct 14;15(10):e0240585. doi: 10.1371/journal.pone.0240585.
    • Genetic counseling in prostate cancer: How to implement it in daily clinical practice?
    • Borque-Fernando A, Espílez R, Miramar D, Corbatón D, Rodríguez A, Castro E, Mateo J, Rello L, Méndez A, Gil Sanz MJ.
    • Actas Urol Esp. 2020 Oct 12:S0210-4806(20)30194-7. English, Spanish. doi: 10.1016/j.acuro.2020.08.009. Epub ahead of print.
    • Review, [Article in Spanish]
    • Feedback of extended panel sequencing in 1,530 patients referred for suspicion of hereditary predisposition to adult cancers.
    • Cavaillé M, Uhrhammer N, Privat M, Ponelle-Chachuat F, Gay-Bellile M, Lepage M, Viala S, Bidet Y, Bignon YJ.
    • Clin Genet. 2020 Oct 12. doi: 10.1111/cge.13864. Epub ahead of print.
    • Reliability and reproducibility among different platforms for tumour BRCA testing in ovarian cancer: a study of the Italian NGS Network.
    • Fumagalli C, Guerini-Rocco E, Buttitta F, Iapicca P, You W, Mauri M, Felicioni L, Troncone G, Malapelle U, Scarpa A, Zamboni G, Calistri D, Barberis M, Marchetti A.
    • J Clin Pathol. 2020 Oct 5:jclinpath-2020-206800. doi: 10.1136/jclinpath-2020-206800. Epub ahead of print.
    • Prevalence of comprehensive DNA damage repair gene germline mutations in Chinese prostate cancer patients.
    • Wu J, Wei Y, Pan J, Jin S, Gu W, Gan H, Zhu Y, Ye D.
    • Int J Cancer. 2020 Oct 2. doi: 10.1002/ijc.33324. Epub ahead of print.
    • Inherited mutations in fallopian tube, ovarian and primary peritoneal carcinoma: Changes in diagnoses and mutational frequency over 20 years.
    • Weiss AS, Swisher E, Pennington KP, Radke M, Khasnavis N, Garcia RL, Kilgore MR, Lee MK, Norquist BM.
    • Gynecol Oncol. 2020 Oct;159(1):214-220. doi: 10.1016/j.ygyno.2020.06.509. Epub 2020 Jul 21.
    • Targeted sequencing of crucial cancer causing genes of breast cancer in Saudi patients.
    • Alanazi M, Parine NR, Shaik JP, Al Naeem A, Aldhaian S.
    • Saudi J Biol Sci. 2020 Oct;27(10):2651-2659. doi: 10.1016/j.sjbs.2020.05.047. Epub 2020 Jun 6.
    • Gene Panel Tumor Testing in Ovarian Cancer Patients Significantly Increases the Yield of Clinically Actionable Germline Variants beyond BRCA1/BRCA2.
    • Barbosa A, Pinto P, Peixoto A, Guerra J, Pinto C, Santos C, Pinheiro M, Escudeiro C, Bartosch C, Silva J, Teixeira MR.
    • Cancers (Basel). 2020 Sep 30;12(10):2834. doi: 10.3390/cancers12102834.
    • Genetic testing approaches for hereditary breast cancer: Perspectives from a private diagnostic laboratory.
    • Smith DC, Gardiner SA, Conradie M, Gerber J, Loubser F.
    • S Afr Med J. 2020 Sep 30;110(10):988-992. doi: 10.7196/SAMJ.2020.v110i10.14709.
    • Impact of Numeracy Preferences on Information Needs for Genome Sequencing Results.
    • Albrechtsen RD, Goodman MS, Bathar J, Kaphingst KA.
    • Patient Educ Couns. 2020 Sep 25:S0738-3991(20)305309. doi: 10.1016/j.pec.2020.09.032. Epub ahead of print.
    • Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes.
    • Mizukami K, Iwasaki Y, Kawakami E, Hirata M, Kamatani Y, Matsuda K, Endo M, Sugano K, Yoshida T, Murakami Y, Nakagawa H, Spurdle AB, Momozawa Y.
    • EBioMedicine. 2020 Sep 24;60:103033. doi: 10.1016/j.ebiom.2020.103033. Epub ahead of print.
    • Identification of novel candidate genes by exome sequencing in Tunisian familial male breast cancer patients.
    • Ben Kridis-Rejeb W, Ben Ayed-Guerfali D, Ammous-Boukhris N, Ayadi W, Kifagi C, Charfi S, Saguem I, Sellami-Boudawara T, Daoud J, Khanfir A, Mokdad-Gargouri R.
    • Mol Biol Rep. 2020 Sep 8. doi: 10.1007/s11033-020-05703-0. Epub ahead of print.
    • RASAL1 and ROS1 Gene Variants in Hereditary Breast Cancer.
    • Isidori F, Bozzarelli I, Ferrari S, Godino L, Innella G, Turchetti D, Bonora E.
    • Cancers (Basel). 2020 Sep 7;12(9):2539. doi: 10.3390/cancers12092539.
    • Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario.
    • Lerner-Ellis J, Mighton C, Lazaro C, Watkins N, Di Gioacchino V, Wong A, Chang MC, Charames GS.
    • J Cancer Res Clin Oncol. 2020 Sep 3. doi: 10.1007/s00432-020-03377-6. Epub ahead of print.
    • Comparison Between Familial Colorectal Cancer Type X and Lynch Syndrome: Molecular, Clinical, and Pathological Characteristics and Pedigrees.
    • Xu Y, Li C, Zhang Y, Guo T, Zhu C, Xu Y, Liu F.
    • Front Oncol. 2020 Sep 2;10:1603. doi: 10.3389/fonc.2020.01603.
    • Prevalence of BRCA1 and BRCA2 Mutations in Patients with Primary Ovarian Cancer - Does the German Checklist for Detecting the Risk of Hereditary Breast and Ovarian Cancer Adequately Depict the Need for Consultation?
    • Ataseven B, Tripon D, Rhiem K, Harter P, Schneider S, Heitz F, Baert T, Traut A, Pauly N, Ehmann S, Plett H, Schmutzler RK, du Bois A.
    • Geburtshilfe Frauenheilkd. 2020 Sep;80(9):932-940. doi: 10.1055/a-1222-0042. Epub 2020 Sep 2.
    • Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.
    • Bishop MR, Omeler-Fenaud SM, Huskey ALW, Merner ND.
    • PLoS One. 2020 Aug 31;15(8):e0238295. doi: 10.1371/journal.pone.0238295.
    • Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis.
    • Yoshida R.
    • Breast Cancer. 2020 Aug 29. doi: 10.1007/s12282-020-01148-2. Epub ahead of print.
    • Germline PALB2 Mutations in Cancers and Its Distinction From Somatic PALB2 Mutations in Breast Cancers.
    • Hu ZY, Liu L, Xie N, Lu J, Liu Z, Tang Y, Wang Y, Yang J, Ouyang Q.
    • Front Genet. 2020 Aug 27;11:829. doi: 10.3389/fgene.2020.00829.
    • Informing models of cancer genetic care in the era of multigene panel testing with patient-led recommendations.
    • Underhill-Blazey M, Blonquist T, Chittenden A, Pozzar R, Nayak M, Lansang K, Hong F, Garber J, Stopfer JE.
    • J Genet Couns. 2020 Aug 26. doi: 10.1002/jgc4.1317. Epub ahead of print.
    • Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.
    • Fanale D, Incorvaia L, Filorizzo C, Bono M, Fiorino A, Calò V, Brando C, Corsini LR, Barraco N, Badalamenti G, Russo A, Bazan V.
    • Cancers (Basel). 2020 Aug 25;12(9):2415. doi: 10.3390/cancers12092415.
    • Genetic Counseling for Hereditary Gastric and Pancreatic Cancer in High-Risk Gastrointestinal Cancer Clinics: An Effective Strategy.
    • Llach J, Moreno L, Sánchez A, Herrera-Pariente C, Ocaña T, Cuatrecasas M, Rivero-Sánchez L, Moreira R, Díaz M, Jung G, Pellisé M, Castells A, Balaguer F, Carballal S, Moreira L.
    • Cancers (Basel). 2020 Aug 23;12(9):2386. doi: 10.3390/cancers12092386.
    • Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: evidence for further locus heterogeneity.
    • Smith PS, West H, Whitworth J, Castle B, Sansbury FH, Warren AY, Woodward ER, Tischkowitz M, Maher ER.
    • Genes Chromosomes Cancer. 2020 Aug 23. doi: 10.1002/gcc.22893. Epub ahead of print.
    • Next generation sequencing analysis of BRCA1 and BRCA2 identifies novel variations in breast cancer.
    • Tacar SY, Bozgeyik E, Seber ES, Yetisyigit T, Tozkir H, Avci O, Arslan A.
    • Life Sci. 2020 Aug 23:118334. doi: 10.1016/j.lfs.2020.118334. Epub ahead of print.
    • Comparison of Molecular, Clinicopathological, and Pedigree Differences Between Lynch-Like and Lynch Syndromes.
    • Xu Y, Huang Z, Li C, Zhu C, Zhang Y, Guo T, Liu F, Xu Y.
    • Front Genet. 2020 Aug 19;11:991. doi: 10.3389/fgene.2020.00991.
    • Performance evaluation of an amplicon-based next-generation sequencing panel for BRCA1 and BRCA2 variant detection.
    • Park K, Kim MK, Lee T, Hong J, Kim HK, Ahn S, Lee YJ, Kim J, Lee SW, Lee JW, Lee W, Chun S, Son BH, Jung KH, Kim YM, Min WK, Ahn SH.
    • J Clin Lab Anal. 2020 Aug 19:e23524. doi: 10.1002/jcla.23524. Epub ahead of print.
    • Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers.
    • Maxwell KN, Wenz BM, Kulkarni A, Wubbenhorst B, D'Andrea K, Weathers B, Goodman N, Vijai J, Lilyquist J, Hart SN, Slavin TP, Schrader KA, Ravichandran V, Thomas T, Hu C, Robson ME, Peterlongo P, Bonanni B, Ford JM, Garber JE, Neuhausen SL, Shah PD, Bradbury AR, DeMichele AM, Offit K, Weitzel JN, Couch FJ, Domchek SM, Nathanson KL.
    • JCO Precis Oncol. 2020 Aug 19;4:PO.19.00301. doi: 10.1200/PO.19.00301.

    Research news: Gene Testing for Patients With Breast Cancer and Second Cancer. (Medscape)

    • Whole-exome Sequencing Reveals New Potential Susceptibility Genes for Japanese Familial Pancreatic Cancer.
    • Takai E, Nakamura H, Chiku S, Kubo E, Ohmoto A, Totoki Y, Shibata T, Higuchi R, Yamamoto M, Furuse J, Shimizu K, Takahashi H, Morizane C, Furukawa T, Yachida S.
    • Ann Surg. 2020 Aug 18. doi: 10.1097/SLA.0000000000004213. Epub ahead of print.
    • Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland.
    • Rogoza-Janiszewska E, Malinska K, Cybulski C, Jakubowska A, Gronwald J, Huzarski T, Lener M, Górski B, Kluzniak W, Rudnicka H, Akbari MR, Kashyap A, Narod SA, Lubinski J, Debniak T, On Behalf Of The Polish Hereditary Breast Cancer Consortium.
    • Cancers (Basel). 2020 Aug 17;12(8):2321. doi: 10.3390/cancers12082321.
    • Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
    • Roman TS, Crowley SB, Roche MI, Foreman AKM, O'Daniel JM, Seifert BA, Lee K, Brandt A, Gustafson C, DeCristo DM, Strande NT, Ramkissoon L, Milko LV, Owen P, Roy S, Xiong M, Paquin RS, Butterfield RM, Lewis MA, Souris KJ, Bailey DB Jr, Rini C, Booker JK, Powell BC, Weck KE, Powell CM, Berg JS.
    • Am J Hum Genet. 2020 Aug 14:S0002-9297(20)30269-X. doi: 10.1016/j.ajhg.2020.08.001. Epub ahead of print.
    • Two-stage Study of Familial Prostate Cancer by Whole-exome Sequencing and Custom Capture Identifies 10 Novel Genes Associated with the Risk of Prostate Cancer.
    • Schaid DJ, McDonnell SK, FitzGerald LM, DeRycke L, Fogarty Z, Giles GG, MacInnis RJ, Southey MC, Nguyen-Dumont T, Cancel-Tassin G, Cussenot O, Whittemore AS, Sieh W, Ioannidis NM, Hsieh CL, Stanford JL, Schleutker J, Cropp CD, Carpten J, Hoegel J, Eeles R, Kote-Jarai Z, Ackerman MJ, Klein CJ, Mandal D, Cooney KA, Bailey-Wilson JE, Helfand B, Catalona WJ, Wiklund F, Riska S, Bahetti S, Larson MC, Cannon Albright L, Teerlink C, Xu J, Isaacs W, Ostrander EA, Thibodeau SN.
    • Eur Urol. 2020 Aug 13:S0302-2838(20)30614-X. doi: 10.1016/j.eururo.2020.07.038. Epub ahead of print.
    • Somatic BRCA Mutation in a Cholangiocarcinoma Patient for HBOC Syndrome Detection.
    • Paradiso AV, Patruno M, Digennaro M, Tommasi S, Pilato B, Argentiero A, Brunetti O, Silvestris N.
    • Front Oncol. 2020 Aug 12;10:1292. doi: 10.3389/fonc.2020.01292.
    • Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer.
    • Hartman TR, Demidova EV, Lesh RW, Hoang L, Richardson M, Forman A, Kessler L, Speare V, Golemis EA, Hall MJ, Daly MB, Arora S.
    • Sci Rep. 2020 Aug 11;10(1):13518. doi: 10.1038/s41598-020-70449-5.
    • Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC).
    • El Ansari FZ, Jouali F, Marchoudi N, Bennani MM, Ghailani NN, Barakat A, Fekkak J.
    • BMC Cancer. 2020 Aug 10;20(1):747. doi: 10.1186/s12885-020-07250-0.
    • BRCA sequencing of tumors: understanding its implications in the oncology community.
    • Wong RSJ, Lee SC.
    • Chin Clin Oncol. 2020 Aug 10:cco-19-198. doi: 10.21037/cco-19-198. Epub ahead of print.
    • Streamlining genetic testing for women with ovarian cancer in a Northern California health care system.
    • Powell CB, Laurent C, Ciaravino G, Garcia C, Han L, Hoodfar E, Karlea A, Kobelka C, Lee J, Littell RD, Roh J, Vay A, Kushi LH.
    • Gynecol Oncol. 2020 Aug 7:S0090-8258(20)33662-3. doi: 10.1016/j.ygyno.2020.07.027. Epub ahead of print.
    • Genetic Testing Challenges in Oncology: Assuming All Labs Are Equal Gives False Reassurance of Risk.
    • Ray T.
    • Precision Oncology News. 2020 Aug 6.
    • Metastatic Pancreatic Cancer: ASCO Guideline Update.
    • Sohal DPS, Kennedy EB, Cinar P, Conroy T, Copur MS, Crane CH, Garrido-Laguna I, Lau MW, Johnson T, Krishnamurthi S, Moravek C, O'Reilly EM, Philip PA, Pant S, Shah MA, Sahai V, Uronis HE, Zaidi N, Laheru D.
    • J Clin Oncol. 2020 Aug 5:JCO2001364. doi: 10.1200/JCO.20.01364. Epub ahead of print.
    • Differences in cancer prevalence among CHEK2 carriers identified via multi-gene panel testing.
    • Sutcliffe EG, Stettner AR, Miller SA, Solomon SR, Marshall ML, Roberts ME, Susswein LR, Arvai KJ, Klein RT, Murphy PD, Hruska KS.
    • Cancer Genet. 2020 Aug 1;246-247:12-17. doi: 10.1016/j.cancergen.2020.07.001. Epub ahead of print.
    • Characteristics of cancer susceptibility genes mutations in 282 patients with gastric adenocarcinoma.
    • Ji K, Ao S, He L, Zhang L, Feng L, Lyu G.
    • Chin J Cancer Res. 2020 Aug;32(4):508-515. doi: 10.21147/j.issn.1000-9604.2020.04.08.
    • Ancestry-specific hereditary cancer panel yields: Moving toward more personalized risk assessment.
    • Roberts ME, Susswein LR, Janice Cheng W, Carter NJ, Carter AC, Klein RT, Hruska KS, Marshall ML.
    • J Genet Couns. 2020 Aug;29(4):598-606. doi: 10.1002/jgc4.1257. Epub 2020 Mar 30.
    • Tumor Testing for Somatic and Germline BRCA1/BRCA2 Variants in Ovarian Cancer Patients in the Context of Strong Founder Effects.
    • Peixoto A, Pinto P, Guerra J, Pinheiro M, Santos C, Pinto C, Santos R, Escudeiro C, Bartosch C, Canário R, Barbosa A, Gouveia A, Petiz A, Abreu MH, Sousa S, Pereira D, Silva J, Teixeira MR.
    • Front Oncol. 2020 Jul 31;10:1318. doi: 10.3389/fonc.2020.01318.
    • Contralateral Risk-Reducing Mastectomy in Breast Cancer Patients Who Undergo Multigene Panel Testing.
    • Murphy BL, Yi M, Arun BK, Gutierrez Barrera AM, Bedrosian I.
    • Ann Surg Oncol. 2020 Jul 27. doi: 10.1245/s10434-020-08889-6. Epub ahead of print.
    • Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients.
    • Horiuchi Y, Matsubayashi H, Kiyozumi Y, Nishimura S, Higashigawa S, Kado N, Nagashima T, Mizuguchi M, Ohnami S, Arai M, Urakami K, Kusuhara M, Yamaguchi K.
    • Hum Genet. 2020 Jul 24. doi: 10.1007/s00439-020-02207-6. Epub ahead of print.
    • Germlines 'Rich Source' of Prostate Cancer Info.
    • O'Rourke K, Giri V.
    • Medscape Oncology. 2020 Jul 21.
    • The contemporary landscape of genetic testing and breast cancer: Emerging issues.
    • Shah PD, Domchek SM.
    • Breast J. 2020 Jul 20. doi: 10.1111/tbj.13968. Epub ahead of print.
    • Review
    • Update on multi-gene panel testing and communication of genetic test results.
    • Reid S, Pal T.
    • Breast J. 2020 Jul 8. doi: 10.1111/tbj.13971. Epub ahead of print.
    • Review
    • Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.
    • Thibodeau ML, O'Neill K, Dixon K, Reisle C, Mungall KL, Krzywinski M, Shen Y, Lim HJ, Cheng D, Tse K, Wong T, Chuah E, Fok A, Sun S, Renouf D, Schaeffer DF, Cremin C, Chia S, Young S, Pandoh P, Pleasance S, Pleasance E, Mungall AJ, Moore R, Yip S, Karsan A, Laskin J, Marra MA, Schrader KA, Jones SJM.
    • Genet Med. 2020 Jul 6. doi: 10.1038/s41436-020-0880-8. Epub ahead of print.
    • Clinical utility of target capture-based panel sequencing in hematological malignancies: a multicenter feasibility study.
    • Yasuda T, Sanada M, Nishijima D, Kanamori T, Iijima Y, Hattori H, Saito A, Miyoshi H, Ishikawa Y, Asou N, Usuki K, Hirabayashi S, Kato M, Ri M, Handa H, Ishida T, Shibayama H, Abe M, Iriyama C, Karube K, Nishikori M, Ohshima K, Kataoka K, Yoshida K, Shiraishi Y, Goto H, Adachi S, Kobayashi R, Kiyoi H, Miyazaki Y, Ogawa S, Kurahashi H, Yokoyama H, Manabe A, Iida S, Tomita A, Horibe K.
    • Cancer Sci. 2020 Jul 3. doi: 10.1111/cas.14552. Epub ahead of print.
    • Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer Genes.
    • Gallagher S, Hughes E, Wagner S, Tshiaba P, Rosenthal E, Roa BB, Kurian AW, Domchek SM, Garber J, Lancaster J, Weitzel JN, Gutin A, Lanchbury JS, Robson M.
    • JAMA Netw Open. 2020 Jul 1;3(7):e208501. doi: 10.1001/jamanetworkopen.2020.8501.

    Research news: Polygenic Risk Score Modifies Breast Cancer Risk in Pathogenic Variant Carriers. (GenomeWeb)

    • Young Adults With Early Onset Cancer May Benefit From Genetic Testing.
    • Brooks M.
    • Medscape. Medscape Oncology/Reuters Health. 2020 Jul 1.
    • Germline Mutations in DNA Repair Genes in Patients With Metastatic Castration-resistant Prostate Cancer.
    • Holeckova K, Baluchova K, Hives M, Musak L, Kliment J Sr, Skerenova M.
    • In Vivo. 2020 Jul-Aug;34(4):1773-1778. doi: 10.21873/invivo.11971.
    • A Modern Dilemma: How Experts Grapple with Ambiguous Genetic Test Results.
    • Scherr CL, Ross Arguedas AA, Getachew-Smith H, Marshall-Fricker C, Shrestha N, Brooks K, Fischhoff B, Vadaparampil ST.
    • Med Decis Making. 2020 Jul;40(5):655-668. doi: 10.1177/0272989X20935864.
    • New germline mutations in non-BRCA genes among breast cancer women of Mongoloid origin.
    • Gervas P, Molokov A, Schegoleva A, Kiselev A, Babyshkina N, Pisareva L, Tyukalov Y, Choynzonov E, Cherdyntseva N.
    • Mol Biol Rep. 2020 Jun 29. doi: 10.1007/s11033-020-05612-2. Epub ahead of print.
    • Germline BRCA2 Truncating Mutation in Familial Esophageal Squamous Cell Carcinoma: A Case Controlled Study in China.
    • Liang Z, Hu W, Li S, Wei Z, Zhu Z.
    • Med Sci Monit. 2020 Jun 24;26:e923926. doi: 10.12659/MSM.923926.
    • Identification of somatically acquired BRCA1/2 mutations by cfDNA analysis in patients with metastatic breast cancer.
    • Vidula N, Dubash TD, Lawrence MS, Simoneau A, Niemierko A, Blouch EL, Nagy RJ, Roh W, Chirn B, Reeves B, Malvarosa G, Lennerz JK, Isakoff SJ, Juric D, Micalizzi DS, Wander SA, Spring LM, Moy B, Shannon KM, Younger J, Lanman RB, Toner M, Iafrate AJ, Getz G, Zou L, Ellisen LW, Maheswaran S, Haber DA, Bardia A.
    • Clin Cancer Res. 2020 Jun 22:clincanres.0638.2020. doi: 10.1158/1078-0432.CCR-20-0638. Epub ahead of print.
    • Frequency of genomic secondary findings among 21,915 eMERGE network participants.
    • eMERGE Clinical Annotation Working Group.
    • Genet Med. 2020 Jun 17. doi: 10.1038/s41436-020-0810-9. Epub ahead of print.
    • Clinical characteristics and exploratory genomic analyses of germline BRCA1 or BRCA2 mutations in breast cancer.
    • Park S, Lee E, Park S, Lee S, Nam SJ, Kim SW, Lee JE, Yu JH, Kim JY, Ahn JS, Im YH, Park WY, Park K, Park YH.
    • Mol Cancer Res. 2020 Jun 17:molcanres.1108.2019. doi: 10.1158/1541-7786.MCR-19-1108. Epub ahead of print.
    • Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
    • Song H, Dicks EM, Tyrer J, Intermaggio M, Chenevix-Trench G, Bowtell DD, Traficante N, Group A, Brenton J, Goranova T, Hosking K, Piskorz A, van Oudenhove E, Doherty J, Harris HR, Rossing MA, Duerst M, Dork T, Bogdanova NV, Modugno F, Moysich K, Odunsi K, Ness R, Karlan BY, Lester J, Jensen A, Krüger Kjaer S, Høgdall E, Campbell IG, Lázaro C, Pujara MA, Cunningham J, Vierkant R, Winham SJ, Hildebrandt M, Huff C, Li D, Wu X, Yu Y, Permuth JB, Levine DA, Schildkraut JM, Riggan MJ, Berchuck A, Webb PM, Group OS, Cybulski C, Gronwald J, Jakubowska A, Lubinski J, Alsop J, Harrington P, Chan I, Menon U, Pearce CL, Wu AH, de Fazio A, Kennedy CJ, Goode E, Ramus S, Gayther S, Pharoah P.
    • J Med Genet. 2020 Jun 16:jmedgenet-2019-106739. doi: 10.1136/jmedgenet-2019-106739. Epub ahead of print.
    • A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
    • Velázquez C, Lastra E, Avila Cobos F, Abella L, de la Cruz V, Hernando BA, Hernández L, Martínez N, Infante M, Durán M.
    • J Transl Med. 2020 Jun 10;18(1):232. doi: 10.1186/s12967-020-02391-z.
    • Validation of a next generation sequencing assay for BRCA1, BRCA2, CHEK2 and PALB2 genetic testing.
    • Sim WC, Lee CY, Richards R, Karolien B, Mottier V, Goh LL.
    • Exp Mol Pathol. 2020 Jun 9:104483. doi: 10.1016/j.yexmp.2020.104483. Epub ahead of print.
    • Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019.
    • Giri VN, Knudsen KE, Kelly WK, Cheng HH, Cooney KA, Cookson MS, Dahut W, Weissman S, Soule HR, Petrylak DP, Dicker AP, AlDubayan SH, Toland AE, Pritchard CC, Pettaway CA, Daly MB, Mohler JL, Parsons JK, Carroll PR, Pilarski R, Blanco A, Woodson A, Rahm A, Taplin ME, Polascik TJ, Helfand BT, Hyatt C, Morgans AK, Feng F, Mullane M, Powers J, Concepcion R, Lin DW, Wender R, Mark JR, Costello A, Burnett AL, Sartor O, Isaacs WB, Xu J, Weitzel J, Andriole GL, Beltran H, Briganti A, Byrne L, Calvaresi A, Chandrasekar T, Chen DYT, Den RB, Dobi A, Crawford ED, Eastham J, Eggener S, Freedman ML, Garnick M, Gomella PT, Handley N, Hurwitz MD, Izes J, Karnes RJ, Lallas C, Languino L, Loeb S, Lopez AM, Loughlin KR, Lu-Yao G, Malkowicz SB, Mann M, Mille P, Miner MM, Morgan T, Moreno J, Mucci L, Myers RE, Nielsen SM, O'Neil B, Pinover W, Pinto P, Poage W, Raj GV, Rebbeck TR, Ryan C, Sandler H, Schiewer M, Scott EMD, Szymaniak B, Tester W, Trabulsi EJ, Vapiwala N, Yu EY, Zeigler-Johnson C, Gomella LG.
    • J Clin Oncol. 2020 Jun 9:JCO2000046. doi: 10.1200/JCO.20.00046. Epub ahead of print.

    Press: Cancer Experts Develop Precision Medicine-Based Genetic Testing Framework for Prostate Cancer. (GenomeWeb)

    Press: Consider Genetic Testing in All Metastatic Prostate Cancers. (MedPage Today)

    • Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing.
    • Rosenberger LH, Thomas SM, Nimbkar SN, Hieken TJ, Ludwig KK, Jacobs LK, Miller ME, Gallagher KK, Wong J, Neuman HB, Tseng J, Hassinger TE, Jakub JW.
    • Ann Surg Oncol. 2020 Jun 5. doi: 10.1245/s10434-020-08480-z. Epub ahead of print.
    • Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.
    • Qin N, Wang Z, Liu Q, Song N, Wilson CL, Ehrhardt MJ, Shelton K, Easton J, Mulder H, Kennetz D, Edmonson MN, Rusch MC, Downing JR, Hudson MM, Nichols KE, Zhang J, Robison LL, Yasui Y.
    • J Clin Oncol. 2020 Jun 4:JCO1902760. doi: 10.1200/JCO.19.02760. Epub ahead of print.

    Research news: Secondary Tumor Risk in Pediatric Cancer Survivors Linked to Germline Variants, Treatment Type. (GenomeWeb)

    • Remote Screening Test for Ovarian Cancer Receives Study Validation.
    • [No author given]
    • Clinical OMICs. 2020 Jun 2.
    • Germline Testing In Advanced Cancer Can Lead to Targeted Tx.
    • Nelson R.
    • Medscape. Conference News. 2020 Jun 2.
    • Sequencing technology status of BRCA1/2 testing in Latin American Countries.
    • Solano AR, Palmero EI, Delgado L, Carraro DM, Ortíz-López R, Carranza CL, Santamaria C, Cifuentes L, Jara Sosa LE, Toland AE.
    • NPJ Genom Med. 2020 Jun 2;5(1):22. doi: 10.1038/s41525-020-0126-3.
    • Sequencing technology status of BRCA1/2 testing in Latin American Countries.
    • Solano AR, Palmero EI, Delgado L, Carraro DM, Ortíz-López R, Carranza CL, Santamaria C, Cifuentes L, Jara Sosa LE, Toland AE.
    • NPJ Genom Med. 2020 Jun 2;5:22. doi: 10.1038/s41525-020-0126-3.
    • Germline Results From Tumor-Normal Sequencing Guides Precision Therapy in Advanced Cancer Patients.
    • Ray T.
    • Precision Oncology News. 2020 May 31.

    Guidelines:

    Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG).

    • Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants.
    • Nikitin AG, Chudakova DA, Enikeev RF, Sakaeva D, Druzhkov M, Shigapova LH, Brovkina OI, Shagimardanova EI, Gusev OA, Gordiev MG.
    • Front Oncol. 2020 May 29;10:666. doi: 10.3389/fonc.2020.00666.
    • A systematic literature review of whole exome and genome sequencing population studies of genetic susceptibility to cancer.
    • Rotunno M, Barajas R, Clyne M, Hoover E, Simonds NI, Lam TK, Mechanic LE, Goldstein AM, Gillanders E.
    • Cancer Epidemiol Biomarkers Prev. 2020 May 28:cebp.1551.2019. doi: 10.1158/1055-9965.EPI-19-1551. Epub ahead of print.
    • Constitutional mosaicism for a BRCA2 mutation as a cause of early-onset breast cancer.
    • Alhopuro P, Vainionpää R, Anttonen AK, Aittomäki K, Nevanlinna H, Pöyhönen M.
    • Fam Cancer. 2020 May 28. doi: 10.1007/s10689-020-00186-1. Epub ahead of print.
    • Utilization of health information technology among cancer genetic counselors.
    • Ritchie JB, Allen CG, Morrison H, Nichols M, Lauzon SD, Schiffman JD, Hughes Halbert C, Welch BM.
    • Mol Genet Genomic Med. 2020 May 28:e1315. doi: 10.1002/mgg3.1315. Epub ahead of print.
    • Updates in hereditary breast cancer genetic testing and practical high risk breast management in gene carriers.
    • Pederson HJ, Noss R.
    • Semin Oncol. 2020 May 26:S0093-7754(20)30047-6. doi: 10.1053/j.seminoncol.2020.05.008. Epub ahead of print.
    • Review
    • Diagnosing hereditary cancer predisposition in men with prostate cancer.
    • Pritzlaff M, Tian Y, Reineke P, Stuenkel AJ, Allen K, Gutierrez S, Jackson M, Dolinsky JS, LaDuca H, Xu J, Black MH, Helfand BT.
    • Genet Med. 2020 May 22. doi: 10.1038/s41436-020-0830-5. Epub ahead of print.
    • Mutation prevalence tables for hereditary cancer derived from multi-gene panel testing.
    • Hart SN, Polley EC, Yussuf A, Yadav S, Goldgar DE, Hu C, LaDuca H, Smith LP, Fujimoto J, Li S, Couch FJ, Dolinsky JS.
    • Hum Mutat. 2020 May 22. doi: 10.1002/humu.24053. Epub ahead of print.
    • Uptake of oophorectomy in women with findings on multigene panel testing: Results from the Prospective Registry of Multiplex Testing (PROMPT).
    • Domchek SM, Brower J, Symecko H, Marcell V, Walsh MF, Hamilton JG, Couch F, Offit K, Garber JE, Robson ME.
    • J Clin Oncol. 2020 May 20;38(15 Suppl):1508-1508. doi: 10.1200/JCO.2020.38.15_suppl.1508. Epub 2020 May 25.
    • Conference abstract
    • Comparison of mutation profile between primary phyllodes tumors of the breast and their paired local recurrences.
    • Mitus J, Adamczyk A, Majchrzyk K, Kowalik A, Rys J, Niemiec J.
    • Pol J Pathol. 2020 May 20;71(1):7-12. doi: 10.5114/pjp.2020.94899.
    • Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.
    • Santonocito C, Rizza R, Paris I, Marchis L, Paolillo C, Tiberi G, Scambia G, Capoluongo E.
    • Cancers (Basel). 2020 May 19;12(5):E1286. doi: 10.3390/cancers12051286.
    • Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.
    • Palmer JR, Polley EC, Hu C, John EM, Haiman C, Hart SN, Gaudet M, Pal T, Anton-Culver H, Trentham-Dietz A, Bernstein L, Ambrosone CB, Bandera EV, Bertrand KA, Bethea TN, Gao C, Gnanaolivu RD, Huang H, Lee KY, LeMarchand L, Na J, Sandler DP, Shah PD, Yadav S, Yang W, Weitzel JN, Domchek SM, Goldgar DE, Nathanson KL, Kraft P, Couch FJ.
    • J Natl Cancer Inst. 2020 May 19:djaa040. doi: 10.1093/jnci/djaa040. Epub ahead of print.

    Editorial:

    Genetic Testing May Help Reduce Breast Cancer Disparities for African American Women.

    • Pediatric Reporting of Genomic Results Study (PROGRESS): A Mixed-Methods, Longitudinal, Observational Cohort Study Protocol to Explore Disclosure of Actionable Adult- And Pediatric-Onset Genomic Variants to Minors and Their Parents.
    • Savatt JM, Wagner JK, Joffe S, Rahm AK, Williams MS, Bradbury AR, Davis FD, Hergenrather J, Hu Y, Kelly MA, Kirchner HL, Meyer MN, Mozersky J, O'Dell SM, Pervola J, Seeley A, Sturm AC, Buchanan AH.
    • BMC Pediatr. 2020 May 15;20(1):222. doi: 10.1186/s12887-020-02070-4.
    • Population-based Genetic Testing for Precision Prevention.
    • Evans O, Manchanda R.
    • Cancer Prev Res (Phila). 2020 May 14:canprevres.0002.2020. doi: 10.1158/1940-6207.CAPR-20-0002. Epub ahead of print.
    • Commentary
    • A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.
    • Kaname T.
    • J Hum Genet. 2020 May 11. doi: 10.1038/s10038-020-0767-1. Epub ahead of print.

    Original research:

    Germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.

    • Invitae Study Finds Germline Risk Variants in Wide Range of Prostate Cancer Patients.
    • Anderson A.
    • GenomeWeb. 2020 May 5.
    • Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
    • Akhavanfard S, Padmanabhan R, Yehia L, Cheng F, Eng C.
    • Nat Commun. 2020 May 5;11(1):2206. doi: 10.1038/s41467-020-16067-1.

    Research news: Pediatric Cancer Patients With Solid Tumors Have Many Druggable Germline Alterations. (GenomeWeb)

    • Frequency of pathogenic/likely pathogenic germline variants in cancer-related genes among children with acute leukemia in Saudi Arabia.
    • Alsultan A, Essa M, Aljefri A, Ayas M, Alharbi M, Alkhayat N, Al-Anzi F, Yassin F, Alkasim F, Alharbi Q, Abdullah S, Jastaniah W.
    • Pediatr Blood Cancer. 2020 May 2:e28340. doi: 10.1002/pbc.28340. [Epub ahead of print]
    • Genetic screening results of individuals with high risk BRCA-related breast/ovarian cancer in Trakya region of Turkey.
    • Demir S, Tozkir H, Gurkan H, Atli EI, Yalcintepe S, Atli E, Sezer YA, Eker D, Tuncbilek N, Tastekin E, Ozen Y, Cicin I.
    • J BUON. 2020 May-Jun;25(3):1337-1347.
    • Male Breast Cancer: Results of the Application of Multigene Panel Testing to an Italian Cohort of Patients.
    • Tedaldi G, Tebaldi M, Zampiga V, Cangini I, Pirini F, Ferracci E, Danesi R, Arcangeli V, Ravegnani M, Martinelli G, Falcini F, Ulivi P, Calistri D.
    • Diagnostics (Basel). 2020 Apr 30;10(5). pii: E269. doi: 10.3390/diagnostics10050269.
    • Development and validation of next generation sequencing based 35-gene hereditary cancer panel.
    • Chan W, Lee M, Yeo ZX, Ying D, Grimaldi KA, Pickering C, Yang MMS, Sundaram SK, Tzang LCH.
    • Hered Cancer Clin Pract. 2020 Apr 28;18:9. doi: 10.1186/s13053-020-00141-2. eCollection 2020.
    • Detection of germline variants using expanded multigene panels in patients with localized pancreatic cancer.
    • Krepline AN, Geurts JL, Akinola I, Christians KK, Clarke CN, George B, Ritch PS, Khan AH, Hall WA, Erickson BA, Griffin MO, Evans DB, Tsai S.
    • HPB (Oxford). 2020 Apr 27. pii: S1365-182X(20)30109-X. doi: 10.1016/j.hpb.2020.03.022. [Epub ahead of print]
    • Acceptability and outcomes of multigene panel testing among young Black breast cancer survivors.
    • Conley CC, Garcia JD, Radford C, Reich RR, Monteiro AN, Pal T, Vadaparampil ST.
    • Breast J. 2020 Apr 22. doi: 10.1111/tbj.13848. Epub ahead of print.
    • Commentary
    • Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants.
    • Bernstein-Molho R, Friedman E, Kedar I, Laitman Y, Allweis TM, Gal-Yam EN, Feldman HB, Grinshpun A, Halpern N, Hartmajer S, Kadouri L, Katz LH, Kaufman B, Laish I, Levanon K, Philipsborn SL, Ludman M, Moran G, Peretz T, Reinstein E, Levi GR, Safra T, Shkedi S, Vinkler C, Levy Z, Goldberg Y.
    • Breast Cancer Res Treat. 2020 Apr 18. doi: 10.1007/s10549-020-05633-2. [Epub ahead of print]
    • Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
    • Van Marcke C, Helaers R, De Leener A, Merhi A, Schoonjans , Ambroise J, Galant C, Delrée P, Rothé F, Bar I, Khoury E, Brouillard P, Canon JL, Vuylsteke P, Machiels JP, Berlière M, Limaye N, Vikkula M, Duhoux FP.
    • Breast Cancer Res. 2020 Apr 15;22(1):36. doi: 10.1186/s13058-020-01273-y.
    • Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.
    • Lhotova K, Stolarova L, Zemankova P, Vocka M, Janatova M, Borecka M, Cerna M, Jelinkova S, Kral J, Volkova Z, Urbanova M, Kleiblova P, Machackova E, Foretova L, Hazova J, Vasickova P, Lhota F, Koudova M, Cerna L, Tavandzis S, Indrakova J, Hruskova L, Kosarova M, Vrtel R, Stranecky V, Kmoch S, Zikan M, Macurek L, Kleibl Z, Soukupova J.
    • Cancers (Basel). 2020 Apr 13;12(4). pii: E956. doi: 10.3390/cancers12040956.
    • Genetic Testing Challenges in Oncology: Patient With BRCA1 VUS Has Prophylactic Surgery.
    • Ray T.
    • Precision Oncology News. 2020 Apr 6.
    • Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.
    • Subramanian DN, Zethoven M, McInerny S, Morgan JA, Rowley SM, Lee JEA, Li N, Gorringe KL, James PA, Campbell IG.
    • Nat Commun. 2020 Apr 2;11(1):1640. doi: 10.1038/s41467-020-15461-z.
    • Longitudinal outcomes with cancer multigene panel testing in previously tested BRCA1/2 negative patients.
    • Bradbury AR, Egleston BL, Patrick-Miller LJ, Rustgi N, Brandt A, Brower J, DiGiovanni L, Fetzer D, Berkelbach C, Long JM, Powers J, Stopfer JE, Domchek SM.
    • Clin Genet. 2020 Apr;97(4):601-609. doi: 10.1111/cge.13716.
    • Is BRCA2 involved in early onset colorectal cancer risk?
    • Gay-Bellile M, Privat M, Martins A, Caputo SM, Pebrel-Richard , Cavaillé M, Viala S, Corsini C, Rodrigues M, Barnich N, Bidet Y, Uhrhammer N, Bignon YJ.
    • Clin Genet. 2020 Apr;97(4):668-669. doi: 10.1111/cge.13679. Epub 2019 Dec 26.
    • Germline variants and phenotypic spectrum in a Canadian cohort of individuals with diffuse gastric cancer.
    • Aronson M, Swallow C, Govindarajan A, Semotiuk K, Cohen Z, Kaurah P, Velsher L, Ambus I, Buckley K, Forster-Gibson C, Meschino WS, Blumenthal A, Kim RH, Brar S.
    • Curr Oncol. 2020 Apr;27(2):e182-e190. doi: 10.3747/co.27.5663. Epub 2020 May 1.
    • Germline Mutation in 1338 BRCA-Negative Chinese Hereditary Breast and/or Ovarian Cancer Patients: Clinical Testing with a Multigene Test Panel.
    • Kwong A, Shin VY, Chen J, Cheuk IWY, Ho CYS, Au CH, Chan KKL, Ngan HYS, Chan TL, Ford JM, Ma ESK.
    • J Mol Diagn. 2020 Apr;22(4):544-554. doi: 10.1016/j.jmoldx.2020.01.013. Epub 2020 Feb 15.
    • NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.
    • Daly MB, Pilarski R, Yurgelun MB, Berry MP, Buys SS, Dickson P, Domchek SM, Elkhanany A, Friedman S, Garber JE, Goggins M, Hutton ML, Khan S, Klein C, Kohlmann W, Kurian AW, Laronga C, Litton JK, Mak JS, Menendez CS, Merajver SD, Norquist BS, Offit K, Pal T, Pederson HJ, Reiser G, Shannon KM, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Dwyer MA, Darlow SD.
    • J Natl Compr Canc Netw. 2020 Apr;18(4):380-391. doi: 10.6004/jnccn.2020.0017.

    Continuing Education course: NCCN Guidelines® Insights - Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020. (NCCN Continuing Education)

    • Polymorphisms and rare variants identified by next-generation sequencing confer risk for lung cancer in han Chinese population.
    • Li X, Liu J, Wang K, Zhou J, Zhang H, Zhang M, Shi Y.
    • Pathol Res Pract. 2020 Apr;216(4):152873. doi: 10.1016/j.prp.2020.152873. Epub 2020 Feb 13.
    • Future Research Suggestions for Multigene Testing in Unselected Populations.
    • Jun I, Berger AL, Yaghjyan L.
    • JAMA Oncol. 2020 Mar 26. doi: 10.1001/jamaoncol.2020.0128. [Epub ahead of print]
    • Letter, Comment

    Original research:

    A Cost-effectiveness Analysis of Multigene Testing for All Patients With Breast Cancer.

    Letter, Reply:

    Future Research Suggestions for Multigene Testing in Unselected Populations-Reply.

    • Prevalence and Spectrum of Pathogenic Germline Variants in Japanese Patients With Early-Onset Colorectal, Breast, and Prostate Cancer.
    • Liu X, Takata S, Ashikawa K, Aoi T, Kosugi S, Terao C, Parrish NF, Matsuda K, Nakagawa H, Kamatani Y, Kubo M, Momozawa Y.
    • JCO Precis Oncol. 2020 Nov [Epub 2020 Mar 24];4:183-191. doi: 10.1200/PO.19.00224.
    • Genetics/Familial Risk Assessment for Breast Cancer: Controversies and Evolving Principles.
    • Weitzel JN.
    • National Comprehensive Cancer Network. Continuing Education. 2020 Mar 15.
    • Pioneering Informed Consent for Return of Research Results to Breast Cancer Patients Facing Barriers to Implementation of Genomic Medicine: The Kenyan BRCA1/2 Testing Experience Using Whole Exome Sequencing.
    • Torrorey-Sawe R, van der Merwe N, Mining SK, Kotze MJ.
    • Front Genet. 2020 Mar 6;11:170. doi: 10.3389/fgene.2020.00170. eCollection 2020.
    • Involving patients and their families in deciding to use next generation sequencing: Results from a nationally representative survey of U.S. oncologists.
    • Spees LP, Roberts MC, Freedman AN, Butler EN, Klein WMP, Prabhu Das I, de Moor JS.
    • Patient Educ Couns. 2020 Mar 3. pii: S0738-3991(20)30116-6. doi: 10.1016/j.pec.2020.03.001. [Epub ahead of print]
    • Gene Panel Testing in Hereditary Breast Cancer.
    • Rostami P, Zendehdel K, Shirkoohi R, Ebrahimi E, Ataei M, Imanian H, Najmabadi H, Akbari MR, Sanati MH.
    • Arch Iran Med. 2020 Mar 1;23(3):155-162.
    • Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome.
    • Yoo J, Lee GD, Kim JH, Lee SN, Chae H, Han E, Kim Y, Kim M.
    • Ann Lab Med. 2020 Mar;40(2):148-154. doi: 10.3343/alm.2020.40.2.148.

    Introductory article:

    From Genetic Testing to Treatment and Prevention of BRCA-Related Breast Cancer.

    • A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants.
    • Earl J, Galindo-Pumariño C, Encinas J, Barreto E, Castillo ME, Pachón V, Ferreiro R, Rodríguez-Garrote M, González-Martínez S, Ramon Y Cajal T, Diaz LR, Chirivella-Gonzalez I, Rodriguez M, de Castro EM, García-Seisdedos D, Muñoz G, Rosa JMR, Marquez M, Malats N, Carrato A.
    • EBioMedicine. 2020 Mar;53:102675. doi: 10.1016/j.ebiom.2020.102675. Epub 2020 Feb 27.

    Research news: Study: Inherited gene mutations found in pancreatic cancer families in Spain. (FORCE. XRAY)

    • Should all breast cancer patients get germline genetic testing?
    • Pal T, Domchek S, Graber C
    • Genetics in Medicine. GenePod. 2020 Mar.

    Guidelines:

    Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG).

    Commentary:

    Germline genetic testing for breast cancer: which patients? What genes?

    • Molecular Mechanisms of PALB2 Function and Its Role in Breast Cancer Management.
    • Wu S, Zhou J, Zhang K, Chen H, Luo M, Lu Y, Sun Y, Chen Y.
    • Front Oncol. 2020 Feb 28;10:301. doi: 10.3389/fonc.2020.00301. eCollection 2020.
    • Prevalence of mutations in a diverse cohort of 3162 women tested via the same multigene cancer panel in a managed care health plan.
    • Alvarado M, Tiller GE, Chung J, Haque R.
    • J Community Genet. 2020 Feb 24. doi: 10.1007/s12687-020-00456-6. [Epub ahead of print]
    • The contribution of germline predisposition gene mutations to clinical subtypes of invasive breast cancer from a clinical genetic testing cohort.
    • Hu C, Polley EC, Yadav S, Lilyquist J, Shimelis H, Na J, Hart SN, Goldgar DE, Shah S, Pesaran T, Dolinsky JS, LaDuca H, Couch FJ.
    • J Natl Cancer Inst. 2020 Feb 24. pii: djaa023. doi: 10.1093/jnci/djaa023. [Epub ahead of print]
    • Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer.
    • Nguyen-Dumont T, Steen JA, Winship I, Park DJ, Pope BJ, Hammet F, Mahmoodi M, Tsimiklis H, Theys D, Clendenning M, Giles GG, Hopper JL, Southey MC.
    • Fam Cancer. 2020 Feb 14. doi: 10.1007/s10689-020-00164-7. [Epub ahead of print]
    • Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer.
    • Clark DF, Michalski ST, Tondon R, Nehoray B, Ebrahimzadeh J, Hughes SK, Soper ER, Domchek SM, Rustgi AK, Pineda-Alvarez D, Anderson MJ, Katona BW.
    • Genet Med. 2020 Feb 13. doi: 10.1038/s41436-020-0753-1. [Epub ahead of print]
    • Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.
    • da Costa E Silva Carvalho S, Cury NM, Brotto DB, de Araujo LF, Rosa RCA, Texeira LA, Plaça JR, Marques AA, Peronni KC, Ruy PC, Molfetta GA, Moriguti JC, Carraro DM, Palmero EI, Ashton-Prolla P, de Faria Ferraz VE, Silva WA Jr.
    • BMC Med Genomics. 2020 Feb 10;13(1):21. doi: 10.1186/s12920-019-0652-y.
    • Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test?
    • Angeli D, Salvi S, Tedaldi G.
    • Int J Mol Sci. 2020 Feb 8;21(3). pii: E1128. doi: 10.3390/ijms21031128.
    • Routine plasma-based genotyping to comprehensively detect germline, somatic, and reversion BRCA mutations among patients with advanced solid tumors.
    • Vidula N, Rich TA, Sartor O, Yen J, Hardin A, Nance T, Lilly MB, Nezami MA, Patel SP, Carneiro BA, Fan A, Brufksy AM, Parker BA, Bridges BB, Agarwal N, Maughan BL, Raymond VM, Fairclough SR, Lanman RB, Bardia A, Cristofanilli M.
    • Clin Cancer Res. 2020 Feb 7. pii: clincanres.2933.2019. doi: 10.1158/1078-0432.CCR-19-2933. [Epub ahead of print]
    • No Evidence of Increased Risk of Breast Cancer in Women With Lynch Syndrome Identified by Multigene Panel Testing.
    • Stoll J, Rosenthal E, Cummings S, Willmott J, Bernhisel R, Kupfer SS.
    • JCO Precis Oncol. 2020;4:51-60. doi: 10.1200/PO.19.00271. Epub 2020 Feb 7.

    Editorial:

    Lynch Syndrome and Breast Cancer Risk: Weighing the Data.

    • Germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.
    • Hata C, Nakaoka H, Xiang Y, Wang D, Yang A, Liu D, Liu F, Zou Q, Wei L, Zheng K, Inoue I, You H.
    • J Hum Genet. 2020 Feb 7. doi: 10.1038/s10038-020-0729-7. [Epub ahead of print]

    Commentary, Research review:

    A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors

    • Despite Barriers, Labs Starting to Report Suspected Cancer Risk Mutations Seen in Tumor Testing.
    • Ray T.
    • GenomeWeb. 2020 Feb 6.
    • Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.
    • Shin HC, Lee HB, Yoo TK, Lee ES, Kim RN, Park B, Yoon KA, Park C, Lee ES, Moon HG, Noh DY, Kong SY, Han W.
    • Cancer Res Treat. 2020 Feb 4. doi: 10.4143/crt.2019.559. [Epub ahead of print]
    • Oncology Clinic-Based Hereditary Cancer Genetic Testing in a Population-Based Health Care System.
    • Richardson M, Min HJ, Hong Q, Compton K, Mung SW, Lohn Z, Nuk J, McCullum M, Portigal-Todd C, Karsan A, Regier D, Brotto LA, Sun S, Schrader KA.
    • Cancers (Basel). 2020 Feb 3;12(2). pii: E338. doi: 10.3390/cancers12020338.
    • Diagnostic yield of a custom-designed multi-gene cancer panel in Irish patients with breast cancer.
    • McVeigh ÚM, McVeigh TP, Curran C, Miller N, Morris DW, Kerin MJ.
    • Ir J Med Sci. 2020 Feb 1. doi: 10.1007/s11845-020-02174-x. [Epub ahead of print]
    • Multigene panel testing results in patients with multiple breast cancer primaries.
    • Corredor J, Woodson AH, Gutierrez Barrera A, Arun B.
    • Breast J. 2020 Jan 30. doi: 10.1111/tbj.13762. [Epub ahead of print]
    • Medicare to Cover Gene Tests in Inherited Breast and Ovarian Cancer.
    • Young KD.
    • Medscape Oncology. 2020 Jan 29.

    Decision Memo: Decision Memo for Next Generation Sequencing (NGS) for Medicare Beneficiaries with Advanced Cancer (CAG-00450R) (Centers for Medicare & Medicaid Services)

    • Decision Memo for Next Generation Sequencing (NGS) for Medicare Beneficiaries with Advanced Cancer (CAG-00450R)
    • Syrek Jensen T, Chin J, Evans MA, Ashby L, Ward A, Rollins J, Li C, Long K.
    • Centers for Medicare & Medicaid Services. 2020 Jan 27.
    • CMS to Cover FDA-Approved, -Cleared NGS Germline Tests for Breast, Ovarian Cancer Patients.
    • [No author given]
    • GenomeWeb. 2020 Jan 27.

    Decision Memo: Decision Memo for Next Generation Sequencing (NGS) for Medicare Beneficiaries with Advanced Cancer (CAG-00450R) (Centers for Medicare & Medicaid Services)

    • Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.
    • Rosenthal SH, Sun W, Zhang , Liu , Nguyen Q, Gerasimova , Nery C, Cheng L, Castonguay C, Hiller E, Li J, Elzinga , Wolfson D, Smolgovsky A, Chen R, Buller-Burckle A, Catanese J, Grupe A, Lacbawan F, Owen R.
    • Biomed Res Int. 2020 Jan 22;2020:3289023. doi: 10.1155/2020/3289023. eCollection 2020.
    • Breast cancer screening implications of risk modeling among female relatives of ATM and CHEK2 carriers.
    • Weidner AE, Liggin ME, Zuniga BI, Tezak AL, Wiesner GL, Pal T.
    • Cancer. 2020 Jan 22. doi: 10.1002/cncr.32715. [Epub ahead of print]
    • Referencing BRCA in hereditary cancer risk discussions: In search of an anchor in a sea of uncertainty.
    • Waltz M, Prince AER, O'Daniel JM, Foreman AKM, Powell BC, Berg JS.
    • J Genet Couns. 2020 Jan 22. doi: 10.1002/jgc4.1219. [Epub ahead of print]
    • As Home Genetic Tests Flood Market, Are Physicians Being Left Behind?
    • Miller KD, Domchek S.
    • Medscape Oncology. 2020 Jan 22.
    • Classifying variants of unknown significance in BRCA1/BRCA2 based on family and personal history.
    • Graber C, Goldgar D.
    • Genetics in Medicine. Genepod. 2020 Jan 20.
    • Podcast

    Original research:

    Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

    • Should Genetic Testing for Cancer Predisposition Be Standard-of-Care for Women with Invasive Breast Cancer? The Murtha Cancer Center Experience.
    • Rummel SK, Lovejoy LA, Turner CE, Shriver CD, Ellsworth RE.
    • Cancers (Basel). 2020 Jan 17;12(1). pii: E234. doi: 10.3390/cancers12010234.
    • Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.
    • Chirita-Emandi A, Andreescu N, Zimbru CG, Tutac P, Arghirescu S, Serban M, Puiu M.
    • Sci Rep. 2020 Jan 14;10(1):223. doi: 10.1038/s41598-019-57080-9.
    • Applications of Next Generation Sequencing to the Analysis of Familial Breast/Ovarian Cancer.
    • Zelli V, Compagnoni C, Cannita K, Capelli R, Capalbo C, Di Vito Nolfi M, Alesse E, Zazzeroni F, Tessitore A.
    • High Throughput. 2020 Jan 10;9(1). pii: E1. doi: 10.3390/ht9010001.
    • 'We don't know for sure': discussion of uncertainty concerning multigene panel testing during initial cancer genetic consultations.
    • Medendorp NM, Hillen MA, van Maarschalkerweerd PEA, Aalfs CM, Ausems MGEM, Verhoef S, van der Kolk LE, Berger LPV, Wevers MR, Wagner A, Caanen BAH, Stiggelbout AM, Smets EMA.
    • Fam Cancer. 2020 Jan;19(1):65-76. doi: 10.1007/s10689-019-00154-4. Epub 2019 Nov 26.
    • Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.
    • Abul-Husn NS, Soper ER, Odgis JA, Cullina S, Bobo D, Moscati A, Rodriguez JE; CBIPM Genomics Team; Regeneron Genetics Center, Loos RJF, Cho JH, Belbin GM, Suckiel SA, Kenny EE.
    • Genome Med. 2019 Dec 31;12(1):2. doi: 10.1186/s13073-019-0691-1.
    • Myriad Data Supports Polygenic Score Value Even in Canonical Mutation Carriers.
    • Ashford M.
    • GenomeWeb. 2019 Dec 27.
    • News
    • Heartbreaking News, Then Tumor Find Leads to Genetic Testing.
    • Hackethal V.
    • Medscape Oncology. 2019 Dec 27.

    Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, NCCN Guidelines Version 1.2020. (NCCN.org. 2019 Dec 4. Version 1.2020.)

    • Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.
    • Jarhelle E, Riise Stensland HMF, Hansen GÅM, Skarsfjord S, Jonsrud C, Ingebrigtsen M, Strømsvik N, Van Ghelue M.
    • Sci Rep. 2019 Dec 27;9(1):19986. doi: 10.1038/s41598-019-55515-x.
    • Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Uganda and Cameroon Women.
    • Adedokun B, Zheng Y, Ndom P, Gakwaya A, Makumbi T, Zhou AY, Yoshimatsu TF, Rodriguez A, Madduri RK, Foster IT, Sallam A, Olopade OI, Huo D.
    • Cancer Epidemiol Biomarkers Prev. 2019 Dec 23. pii: cebp.0506.2019. doi: 10.1158/1055-9965.EPI-19-0506. [Epub ahead of print]
    • Germline DNA Sequencing Reveals Novel Mutations Predictive of Overall Survival in a Cohort of Pancreatic Cancer Patients.
    • Goldstein JB, Zhao L, Wang X, Ghelman Y, Overman MJ, Javle M, Shroff RT, Varadhachary GR, Wolf RA, McAllister F, Futreal PA, Fogelman DR.
    • Clin Cancer Res. 2019 Dec 23. pii: clincanres.0224.2019. doi: 10.1158/1078-0432.CCR-19-0224. [Epub ahead of print]
    • Latin American Study of Hereditary Breast and Ovarian Cancer LACAM: A Genomic Epidemiology Approach.
    • Oliver J, Quezada Urban R, Franco Cortés CA, Díaz Velásquez CE, Montealegre Paez AL, Pacheco-Orozco RA, Castro Rojas C, García-Robles R, López Rivera JJ, Gaitán Chaparro S, Gómez AM, Suarez Obando F, Giraldo G, Maya MI, Hurtado-Villa P, Sanchez AI, Serrano N, Orduz Galvis AI, Aruachan S, Nuñez Castillo J, Frecha C, Riggi C, Jauk F, Gómez García EM, Carranza CL, Zamora V, Torres Mejía G, Romieu I, Castañeda CA, Castillo M, Gitler R, Antoniano A, Rojas Jiménez E, Romero Cruz LE, Vallejo Lecuona F, Delgado Enciso I, Martínez Rizo AB, Flores Carranza A, Benites Godinez V, Méndez Catalá CF, Herrera LA, Chirino Y, Terrazas LI, Perdomo S, Vaca Paniagua F
    • Front Oncol. 2019 Dec 20;9:1429. doi: 10.3389/fonc.2019.01429. eCollection 2019.
    • Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
    • Li H, LaDuca H, Pesaran T, Chao EC, Dolinsky JS, Parsons M, Spurdle AB, Polley EC, Shimelis H, Hart SN, Hu C, Couch FJ, Goldgar DE.
    • Genet Med. 2019 Dec 19. doi: 10.1038/s41436-019-0729-1. [Epub ahead of print]

    Podcast: Classifying variants of unknown significance in BRCA1/BRCA2 based on family and personal history (Genetics in Medicine Genepod)

    • Ambry Genetics Gains NYS Approval for Paired RNA, DNA Genetic Test.
    • [No author given]
    • GenomeWeb. 2019 Dec 16.

    Original research:

    Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.

    Press: Ambry Genetics Study Finds RNA Testing Can Clarify Role of Variants in Hereditary Cancer Genes. (GenomeWeb)

    • Patients with pathogenic variants for breast cancer other than BRCA1 and BRCA2: qualitative interviews about health care experiences.
    • Clift KE, Macklin SK, Hines SL.
    • Hered Cancer Clin Pract. 2019 Dec 16;17:32. doi: 10.1186/s13053-019-0132-6. eCollection 2019.
    • Characterization of splice-altering mutations in inherited predisposition to cancer.
    • Casadei S, Gulsuner S, Shirts BH, Mandell JB, Kortbawi HM, Norquist BS, Swisher EM, Lee MK, Goldberg Y, O'Connor R, Tan Z, Pritchard CC, King MC, Walsh T.
    • Proc Natl Acad Sci U S A. 2019 Dec 16. pii: 201915608. doi: 10.1073/pnas.1915608116. [Epub ahead of print]

    Comments from NSGC Cancer SIG Discussion Forum

    Subject: cBROCA Technology for Detecting Cancer Gene Splicing Variants Published in PNAS

    • Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG).
    • Pal T, Agnese D, Daly M, La Spada A, Litton J, Wick M, Klugman S, Esplin ED, Jarvik GP; Professional Practice and Guidelines Committee.
    • Genet Med. 2019 Dec 13. doi: 10.1038/s41436-019-0712-x. [Epub ahead of print]

    Commentary:

    Germline genetic testing for breast cancer: which patients? What genes?

    Podcast: Should all breast cancer patients get germline genetic testing? (Genetics in Medicine. Genepod. 2020 Mar.)

    Press: Universal Genetic Testing in Breast Cancer May Result in More Harm Than Good, Experts Worry. (GenomeWeb)

    Press: ACMG Suggests Docs Evaluate All Breast Cancer Patients for Genetic Risk Test Suitability. (GenomeWeb)

    • How to facilitate psychosocial adjustment in women tested for hereditary breast or ovarian cancer susceptibility? Insights from network analysis.
    • Brédart A, Dick J, Cano A, Robieux L, De Pauw A, Schmutzler R, Stoppa-Lyonnet D, Dolbeault S, Kop JL.
    • Psychooncology. 2019 Dec 11. doi: 10.1002/pon.5302. [Epub ahead of print]
    • Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.
    • Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Holth A, Capella G, Davidson B, Evans DG, Martins A, Møller P, Hovig E.
    • Sci Rep. 2019 Dec 6;9(1):18555. doi: 10.1038/s41598-019-54517-z.

    Press: Gene Panel Finds Pathogenic Variants Missed by Standard Tests in 5 Percent of Familial Cancer Cases. (GenomeWeb)

    • Racial and Ethnic Differences in BRCA1/2 and Multigene Panel Testing Among Young Breast Cancer Patients.
    • Jones T, Trivedi MS, Jiang X, Silverman T, Underhill M, Chung WK, Kukafka R, Crew KD.
    • J Cancer Educ. 2019 Dec 4. doi: 10.1007/s13187-019-01646-8. [Epub ahead of print]

    Research news: Study: Racial and ethnic differences in genetic testing among young breast cancer survivors. (FORCE. XRAYS.)

    • Genetic Testing Challenges in Oncology: False Positive After Testing at Pop-Up Booth.
    • Ray T.
    • Precision Oncology News. 2019 Dec 2.
    • Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel.
    • Lerner-Ellis J, Sopik V, Wong A, Lázaro C, Narod SA, Charames GS.
    • J Med Genet. 2019 Nov 29. pii: jmedgenet-2019-106403. doi: 10.1136/jmedgenet-2019-106403. [Epub ahead of print]
    • Identification of germline pathogenic variants in DNA damage repair genes by a next-generation sequencing multigene panel in BRCAX patients.
    • Rodríguez-Balada M, Roig B, Melé M, Albacar C, Serrano S, Salvat M, Querol M, Borràs J, Martorell L, Gumà J.
    • Clin Biochem. 2019 Nov 28. pii: S0009-9120(19)30856-2. doi: 10.1016/j.clinbiochem.2019.11.014. [Epub ahead of print]
    • Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico.
    • Dutil J, Teer JK, Golubeva V, Yoder S, Tong WL, Arroyo N, Karam R, Echenique M, Matta JL, Monteiro AN.
    • Sci Rep. 2019 Nov 28;9(1):17769. doi: 10.1038/s41598-019-54170-6.
    • Update: Genetic causes of hereditary pancreatic cancer: BRCA and beyond
    • [No author given]
    • FORCE. XRAYS. 2019 Nov 26.
    • Prevalence of hereditary breast and ovarian cancer predisposition gene mutations among 882 HBOC high-risk Chinese individuals.
    • Shao D, Cheng S, Guo F, Zhu C, Yuan Y, Hu K, Wang Z, Meng X, Jin X, Xiong Y, Chai X, Li H, Zhang Y, Zhang H, Liu J, Ye M.
    • Cancer Sci. 2019 Nov 19. doi: 10.1111/cas.14242. [Epub ahead of print]
    • Ethical Issues in Newborn Sequencing Research: The Case Study of BabySeq.
    • Ross LF, Clayton EW.
    • Pediatrics. 2019 Nov 12. pii: e20191031. doi: 10.1542/peds.2019-1031. [Epub ahead of print]

    Press: Genome Sequencing in Newborns Raises Ethical Issues (NY Times/Reuters)

    • NSGC Panel Divided on Whether Newly Diagnosed Breast Cancer Patients Should Undergo Panel Testing.
    • [No author given]
    • GenomeWeb. 2019 Nov 7.
    • Clinical utility of hereditary cancer panel testing: Impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D results on patient management and adherence to provider recommendations.
    • Vysotskaia V, Kaseniit KE, Bucheit L, Ready K, Price K, Johansen Taber K.
    • Cancer. 2019 Nov 4. doi: 10.1002/cncr.32572. [Epub ahead of print]
    • Multigene Cancer Panels: Implications for Pre- and Post-test Genetic Counseling.
    • Grady MC, Kolla KA, Peshkin BN.
    • Curr Genet Med Rep. 2019 Nov 4. doi: 10.1007/s40142-019-00173-8. [Epub ahead of print]
    • Review
    • Who should access Germline Genome Sequencing? A mixed methods study of patient views.
    • Best MC, Butow P, Jacobs C, Savard J, Biesecker B, Ballinger ML, Bartley N, Davies G, Napier CE, Smit AK, Thomas DM, Newson AJ; And members of the PiGeOn Project.
    • Clin Genet. 2019 Nov 1. doi: 10.1111/cge.13664. [Epub ahead of print]
    • Automated Workflow for Somatic and Germline Next Generation Sequencing Analysis in Routine Clinical Cancer Diagnostics.
    • Muscarella LA, Fabrizio FP, De Bonis M, Mancini MT, Balsamo T, Graziano P, Centra F, Sparaneo A, Trombetta D, Bonfitto A, Scagliusi V, Larizza P, Capoluongo ED, Fazio VM.
    • Cancers (Basel). 2019 Oct 30;11(11). pii: E1691. doi: 10.3390/cancers11111691.
    • Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
    • Glentis S, Dimopoulos AC, Rouskas K, Ntritsos G, Evangelou E, Narod SA, Mes-Masson AM, Foulkes WD, Rivera B, Tonin PN, Ragoussis J, Dimas AS.
    • Front Genet. 2019 Oct 18;10:1005. doi: 10.3389/fgene.2019.01005. eCollection 2019.
    • Clinical significance of TP53 variants as possible secondary findings in tumor-only next-generation sequencing.
    • Yamamoto Y, Kanai M, Kou T, Sugiyama A, Nakamura E, Miyake H, Yamada T, Nishigaki M, Kondo T, Murakami H, Torishima M, Matsumoto S, Kosugi S, Muto M.
    • J Hum Genet. 2019 Oct 18. doi: 10.1038/s10038-019-0681-6. [Epub ahead of print]
    • Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.
    • Homma TK, Freire BL, Honjo Kawahira RS, Dauber A, Funari MFA, Lerario AM, Nishi MY, Albuquerque EV, Vasques GA, Collett-Solberg PF, Miura Sugayama SM, Bertola DR, Kim CA, Arnhold IJP, Malaquias AC, Jorge AAL.
    • J Pediatr. 2019 Oct 17. pii: S0022-3476(19)31082-0. doi: 10.1016/j.jpeds.2019.08.024. [Epub ahead of print]
    • Ethnic disparities among men with prostate cancer undergoing germline testing.
    • Kwon DH, Borno HT, Cheng HH, Zhou AY, Small EJ.
    • Urol Oncol. 2019 Oct 17. pii: S1078-1439(19)30361-8. doi: 10.1016/j.urolonc.2019.09.010. [Epub ahead of print]
    • Adding RNA-Seq, Ambry Genetics Expects to Reduce VUS Results in Hereditary Cancer Tests.
    • [No author given]
    • GenomeWeb. 2019 Oct 4.
    • News
    • A Cost-effectiveness Analysis of Multigene Testing for All Patients With Breast Cancer.
    • Sun L, Brentnall A, Patel S, Buist DSM, Bowles EJA, Evans DGR, Eccles D, Hopper J, Li S, Southey M, Duffy S, Cuzick J, Dos Santos Silva I, Miners A, Sadique Z, Yang L, Legood R, Manchanda R.
    • JAMA Oncol. 2019 Oct 3. doi: 10.1001/jamaoncol.2019.3323. [Epub ahead of print]

    CME Audio Interview: Cost-effectiveness of Multigene Testing for All Patients With Breast Cancer. (JN Learning : JAMA Oncology)

    Press: Study Finds Breast, Ovarian Cancer Gene Tests Cost-Effective for Unselected Breast Cancer Patients. (GenomeWeb)

    Letter, Comment:

    Future Research Suggestions for Multigene Testing in Unselected Populations.

    Letter, Reply:

    Future Research Suggestions for Multigene Testing in Unselected Populations—Reply.

    • Broad Application of Multigene Panel Testing for Breast Cancer Susceptibility-Pandora's Box Is Opening Wider.
    • Robson M, Domchek S.
    • JAMA Oncol. 2019 Oct 3. doi: 10.1001/jamaoncol.2019.4004. [Epub ahead of print]
    • Commentary
    • Integrating a Next Generation Sequencing Panel into Clinical Practice in Ovarian Cancer.
    • Lee YJ, Kim D, Kim HS, Na K, Lee JY, Nam EJ, Kim SW, Kim S, Kim YT.
    • Yonsei Med J. 2019 Oct;60(10):914-923. doi: 10.3349/ymj.2019.60.10.914.
    • Recontacting patients for multigene panel testing in hereditary cancer: Efficacy and insights.
    • Sawyer L, Creswick H, Lewandowski R, Quillin J.
    • J Genet Couns. 2019 Sep 25. doi: 10.1002/jgc4.1173. [Epub ahead of print]
    • Integrative Molecular Analysis of Patients With Advanced and Metastatic Cancer.
    • Sailer V, Eng KW, Zhang T, Bareja R, Pisapia DJ, Sigaras A, Bhinder B, Romanel A, Wilkes D, Sticca E, Cyrta J, Rao R, Sahota S, Pauli C, Beg S, Motanagh S, Kossai M, Fontunge J, Puca L, Rennert H, Zhaoying Xiang J, Greco N, Kim R, MacDonald TY, McNary T, Blattner-Johnson M, Schiffman MH, Faltas BM, Greenfield JP, Rickman D, Andreopoulou E, Holcomb K, Vahdat LT, Scherr DS, van Besien K, Barbieri CE, Robinson BD, Fine HA, Ocean AJ, Molina A, Shah MA, Nanus DM, Pan Q, Demichelis F, Tagawa ST, Song W, Mosquera JM, Sboner A, Rubin MA, Elemento O, Beltran H.
    • JCO Precis Oncol. 2019;3. doi: 10.1200/PO.19.00047. Epub 2019 Sep 20.
    • Li-Fraumeni syndrome: not a straightforward diagnosis anymore-the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis.
    • Batalini F, Peacock EG, Stobie L, Robertson A, Garber J, Weitzel JN, Tung NM.
    • Breast Cancer Res. 2019 Sep 18;21(1):107. doi: 10.1186/s13058-019-1193-1.
    • Germline investigation in male breast cancer of DNA repair genes by next-generation sequencing.
    • Scarpitta R, Zanna I, Aretini P, Gambino G, Scatena C, Mei B, Ghilli M, Rossetti E, Roncella M, Congregati C, Bonci F, Naccarato AG, Palli D, Caligo MA.
    • Breast Cancer Res Treat. 2019 Sep 11. doi: 10.1007/s10549-019-05429-z. [Epub ahead of print]
    • Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition.
    • Tedaldi G, Pirini F, Tebaldi M, Zampiga V, Cangini I, Danesi R, Arcangeli V, Ravegnani M, Abou Khouzam R, Molinari C, Oliveira C, Morgagni P, Saragoni L, Bencivenga M, Ulivi P, Amadori D, Martinelli G, Falcini F, Ranzani GN, Calistri D.
    • Cancers (Basel). 2019 Sep 11;11(9). pii: E1340. doi: 10.3390/cancers11091340.
    • Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study.
    • Rashid MU, Muhammad N, Naeemi H, Khan FA, Hassan M, Faisal S, Gull S, Amin A, Loya A, Hamann U.
    • Hered Cancer Clin Pract. 2019 Sep 11;17:27. doi: 10.1186/s13053-019-0125-5. eCollection 2019.
    • A family pedigree of malignancies associated with BRCA1 pathogenic variants: a reflection of the state of art in China.
    • Li W, Li L, Wu M.
    • Hered Cancer Clin Pract. 2019 Sep 10;17:26. doi: 10.1186/s13053-019-0126-4. eCollection 2019.
    • Co-occurrence of breast cancer and neuroendocrine tumours: New genetic insights beyond Multiple Endocrine Neoplasia syndromes.
    • Larouche V, Akirov A, Thain E, Kim RH, Ezzat S.
    • Endocrinol Diabetes Metab. 2019 Sep 8;2(4):e00092. doi: 10.1002/edm2.92. eCollection 2019 Oct.
    • [Guideline on next-generation sequencing-based BRCA1/2 testing (2019)].
    • Working Group of Guideline on Next-Generation Sequencing-Based BRCA1/2 Testing (2019).
    • Zhonghua Bing Li Xue Za Zhi. 2019 Sep 8;48(9):670-677. doi: 10.3760/cma.j.issn.0529-5807.2019.09.002.
    • Guidelines, [Article in Chinese]
    • Germline and somatic mutations of multi-gene panel in Chinese patients with epithelial ovarian cancer: a prospective cohort study.
    • Li W, Shao D, Li L, Wu M, Ma S, Tan X, Zhong S, Guo F, Wang Z, Ye M.
    • J Ovarian Res. 2019 Aug 31;12(1):80. doi: 10.1186/s13048-019-0560-y.
    • An update on genetic risk assessment and prevention: the role of genetic testing panels in breast cancer.
    • Piccinin C, Panchal S, Watkins N, Kim RH.
    • Expert Rev Anticancer Ther. 2019 Aug 30. doi: 10.1080/14737140.2019.1659730. [Epub ahead of print]
    • Review
    • Pathogenic Germline Variants in Patients With Metastatic Breast Cancer.
    • Stuttgen K, Croessmann S, Fetting J, Stearns V, Nunes R, Connolly RM, Park BH.
    • JAMA Oncol. 2019 Aug 29. doi: 10.1001/jamaoncol.2019.3116. [Epub ahead of print]
    • Commentary

    Press: Hereditary Cancer Risk Variants Found in Significant Subset of Metastatic Breast Cancer Patients. (GenomeWeb)

    Research news: Inherited Mutations In Metastatic Breast Cancer Patients. (FORCE. XRAYS.)

    • A Multi-Center Study of BRCA1 and BRCA2 Germline Mutations in Mexican-Mestizo Breast Cancer Families Reveals Mutations Unreported in Latin American Population.
    • Millan Catalan O, Campos-Parra AD, Vázquez-Romo R, Cantú de León D, Jacobo-Herrera N, Morales-González F, López-Camarillo C, Rodríguez-Dorantes M, López-Urrutia E, Pérez-Plasencia C.
    • Cancers (Basel). 2019 Aug 26;11(9). pii: E1246. doi: 10.3390/cancers11091246.
    • Germline pathogenic variants in BRCA1, BRCA2, PALB2 and RAD51C in breast cancer women from Argentina.
    • Cerretini R, Mercado G, Morganstein J, Schiaffi J, Reynoso M, Montoya D, Valdéz R, Narod SA, Akbari MR.
    • Breast Cancer Res Treat. 2019 Aug 24. doi: 10.1007/s10549-019-05411-9. [Epub ahead of print]
    • Universal Genetic Testing for All Breast Cancer Patients.
    • Copur MS.
    • Oncology (Williston Park). 2019 Aug 23;33(8). pii: 683731.
    • Germline mutation in DNA-repair genes is associated with poor survival in BRCA1/2-negative breast cancer patients.
    • Fan Z, Hu L, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xu Y, Xie Y.
    • Cancer Sci. 2019 Aug 20. doi: 10.1111/cas.14175. [Epub ahead of print]
    • Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort.
    • Kraemer D, Azzarello-Burri S, Steindl K, Boonsawat P, Zweier M, Dedes KJ, Joset P, Fink D, Rauch A.
    • Swiss Med Wkly. 2019 Aug 18;149:w20092. doi: 10.4414/smw.2019.20092. eCollection 2019 Aug 12.
    • BRCA1/2 somatic mutation detection in formalin-fixed paraffin embedded tissue by next-generation sequencing in Korean ovarian cancer patients.
    • Lee A, Kang J, Lee H, Lee YS, Choi YJ, Lee KH, Nistala GJ, Scafe CR, Choi J, Yoo J, Han M D E, Kim Y, Kim M.
    • Pathol Res Pract. 2019 Aug 16:152595. doi: 10.1016/j.prp.2019.152595. [Epub ahead of print]
    • A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.
    • Bishop MR, Huskey ALW, Hetzel J, Merner ND.
    • PLoS One. 2019 Aug 15;14(8):e0220929. doi: 10.1371/journal.pone.0220929. eCollection 2019.
    • A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients.
    • LaDuca H, Polley EC, Yussuf A, Hoang L, Gutierrez S, Hart SN, Yadav S, Hu C, Na J, Goldgar DE, Fulk K, Smith LP, Horton C, Profato J, Pesaran T, Gau CL, Pronold M, Davis BT, Chao EC, Couch FJ, Dolinsky JS.
    • Genet Med. 2019 Aug 13. doi: 10.1038/s41436-019-0633-8. [Epub ahead of print]
    • BRCA2 loss-of-function germline mutations are associated with esophageal squamous cell carcinoma risk in Chinese.
    • Ko JM, Ning L, Zhao XK, Chai AW, Lei LC, Choi SSA, Tao L, Law S, Kwong A, Lee NP, Chan KT, Lo A, Song X, Chen PN, Chang YL, Wang LD, Lung ML.
    • Int J Cancer. 2019 Aug 9. doi: 10.1002/ijc.32619. [Epub ahead of print]
    • Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.
    • Sepahi I, Faust U, Sturm M, Bosse K, Kehrer M, Heinrich T, Grundman-Hauser K, Bauer P, Ossowski S, Susak H, Varon R, Schröck E, Niederacher D, Auber B, Sutter C, Arnold N, Hahnen E, Dworniczak B, Wang-Gorke S, Gehrig A, Weber BHF, Engel C, Lemke JR, Hartkopf A, Nguyen HP, Riess O, Schroeder C.
    • BMC Cancer. 2019 Aug 8;19(1):787. doi: 10.1186/s12885-019-5946-0.
    • Substantial batch effects in TCGA exome sequences undermine pan-cancer analysis of germline variants.
    • Rasnic R, Brandes N, Zuk O, Linial M.
    • BMC Cancer. 2019 Aug 7;19(1):783. doi: 10.1186/s12885-019-5994-5.
    • Strategies for Improving Access to Hereditary Cancer Testing: Recommendations from Stakeholders.
    • Ready K, Johansen Taber KA, Bonhomme N, Lichtenfeld JL.
    • Genet Med. 2019 Aug;21(8):1702-1704. doi: 10.1038/s41436-018-0430-9. Epub 2019 Jan 28.
    • Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
    • Stradella A, Del Valle J, Rofes P, Feliubadaló L, Grau Garces È, Velasco À, González S, Vargas G, Izquierdo Á, Campos O, Tornero E, Navarro M, Balmaña-Gelpi J, Capellá G, Pineda M, Brunet J, Lázaro C.
    • J Med Genet. 2019 Aug;56(8):521-525. doi: 10.1136/jmedgenet-2018-105700. Epub 2018 Dec 22.
    • Genomics applied to the treatment of breast cancer.
    • Hamdan D, Nguyen TT, Leboeuf C, Meles S, Janin A, Bousquet G.
    • Oncotarget. 2019 Jul 30;10(46):4786-4801. doi: 10.18632/oncotarget.27102. eCollection 2019 Jul 30.
    • Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report.
    • Agiannitopoulos K, Papadopoulou E, Tsaousis GN, Pepe G, Kampouri S, Kocdor MA, Nasioulas G.
    • BMC Med Genet. 2019 Jul 26;20(1):131. doi: 10.1186/s12881-019-0862-3.
    • From Targeting Somatic Mutations to Finding Inherited Cancer Predispositions: The Other Side of the Coin.
    • Pujol P, De La Motte Rouge T, Penault-Llorca F.
    • Diagnostics (Basel). 2019 Jul 26;9(3). pii: E83. doi: 10.3390/diagnostics9030083.
    • Consensus Guidelines on Genetic Testing for Hereditary Breast Cancer from the American Society of Breast Surgeons.
    • Manahan ER, Kuerer HM, Sebastian M, Hughes KS, Boughey JC, Euhus DM, Boolbol SK, Taylor WA.
    • Ann Surg Oncol. 2019 Jul 24. doi: 10.1245/s10434-019-07549-8. [Epub ahead of print]
    • Addendum: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
    • Bashford MT, Kohlman W, Everett J, Parrott A, Pollin TI; Practice Guidelines Committee of the National Society of Genetic Counselors and the Professional Practice and Guidelines Committee of the American College of Medical Genetics and Genomics.
    • Genet Med. 2019 Jul 23. doi: 10.1038/s41436-019-0586-y. [Epub ahead of print]

    Guidelines:

    A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

    • Assessing the effectiveness of the National Comprehensive Cancer Network genetic testing guidelines in identifying African American breast cancer patients with deleterious genetic mutations.
    • Ademuyiwa FO, Salyer P, Ma Y, Fisher S, Colditz G, Weilbaecher K, Bierut LJ.
    • Breast Cancer Res Treat. 2019 Jul 19. doi: 10.1007/s10549-019-05359-w. [Epub ahead of print]
    • Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy.
    • Rizzolo P, Zelli V, Silvestri V, Valentini V, Zanna I, Bianchi S, Masala G, Spinelli AM, Tibiletti MG, Russo A, Varesco L, Giannini G, Capalbo C, Calistri D, Cortesi L, Viel A, Bonanni B, Azzollini J, Manoukian S, Montagna M, Peterlongo P, Radice P, Palli D, Ottini L.
    • Int J Cancer. 2019 Jul 15;145(2):390-400. doi: 10.1002/ijc.32106. Epub 2019 Jan 24.
    • Evaluating BRCA mutation risk predictive models in a Chinese cohort in Taiwan.
    • Hung FH, Wang YA, Jian JW, Peng HP, Hsieh LL, Hung CF, Yang MM, Yang AS.
    • Sci Rep. 2019 Jul 15;9(1):10229. doi: 10.1038/s41598-019-46707-6.
    • BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.
    • Concolino P, Gelli G, Rizza R, Costella A, Scambia G, Capoluongo E.
    • Int J Mol Sci. 2019 Jul 12;20(14). pii: E3442. doi: 10.3390/ijms20143442.
    • One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.
    • Fostira F, Kostantopoulou I, Apostolou P, Papamentzelopoulou MS, Papadimitriou C, Faliakou E, Christodoulou C, Boukovinas I, Razis E, Tryfonopoulos D, Barbounis V, Vagena A, Vlachos IS, Kalfakakou D, Fountzilas G, Yannoukakos D.
    • J Med Genet. 2019 Jul 12. pii: jmedgenet-2019-106189. doi: 10.1136/jmedgenet-2019-106189. [Epub ahead of print]
    • Double heterozygous mutation in the BRCA1 and ATM genes involved in development of primary metachronous tumours: a case report.
    • Andrés R, Menao S, Arruebo M, Quílez E, Cardiel MJ.
    • Breast Cancer Res Treat. 2019 Jul 10. doi: 10.1007/s10549-019-05343-4. [Epub ahead of print]
    • Case report
    • New germline BRCA2 gene variant in the Tuvinian Mongol breast cancer patients.
    • Gervas P, Klyuch B, Denisov E, Kiselev A, Molokov A, Pisareva L, Malinovskaya E, Choynzonov E, Cherdyntseva N.
    • Mol Biol Rep. 2019 Jul 4. doi: 10.1007/s11033-019-04928-y. [Epub ahead of print]
    • Whole-Exome Sequencing Of Ovarian Cancer Families Uncovers Putative Predisposition Genes.
    • Zhu Q, Zhang J, Chen Y, Hu Q, Shen H, Huang RY, Liu Q, Kaur J, Long M, Battaglia S, Eng KH, Lele SB, Zsiros E, Villella J, Lugade A, Yao S, Liu S, Moysich K, Odunsi KO.
    • Int J Cancer. 2019 Jul 2. doi: 10.1002/ijc.32545. [Epub ahead of print]
    • The molecular genetic make-up of male breast cancer.
    • Moelans CB, de Ligt J, van der Groep P, Prins P4, Besselink N, Hoogstraat M, Ter Hoeve N, Lacle M, Kornegoor R, van der Pol C, de Leng W, Barbe E, van der Vegt B, Martens J, Bult P, Smits VT, Koudijs M, Nijman I, Voest E, Selenica P, Weigelt B, Reis-Filho J, van der Wall E, Cuppen E, van Diest PJ.
    • Endocr Relat Cancer. 2019 Jul 1. pii: ERC-19-0278. doi: 10.1530/ERC-19-0278. [Epub ahead of print]
    • Frequency of Pathogenic Germline Variants in CDH1, BRCA2, CHEK2, PALB2, BRCA1, and TP53 in Sporadic Lobular Breast Cancer.
    • Petridis C, Arora I, Shah V, Moss CL, Mera A, Clifford A, Gillett C, Pinder SE, Tomlinson I, Roylance R, Simpson MA, Sawyer EJ.
    • Cancer Epidemiol Biomarkers Prev. 2019 Jul;28(7):1162-1168. doi: 10.1158/1055-9965.EPI-18-1102.
    • Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels.
    • Lee K, Seifert BA, Shimelis H, Ghosh R, Crowley SB, Carter NJ, Doonanco K, Foreman AK, Ritter DI, Jimenez S, Trapp M, Offit K, Plon SE, Couch FJ.
    • Genet Med. 2019 Jul;21(7):1497-1506. doi: 10.1038/s41436-018-0361-5. Epub 2018 Dec 3.
    • The 34th Annual Meeting of the Korean Society of Gynecologic Oncology 2019: meeting report.
    • Yim GW, Suh DH, Kim JW, Kim SC, Kim YT.
    • J Gynecol Oncol. 2019 Jul;30(4):e91. doi: 10.3802/jgo.2019.30.e91.
    • Multi gene panel testing for hereditary breast cancer - is it ready to be used?
    • Catana A, Apostu AP, Antemie RG.
    • Med Pharm Rep. 2019 Jul;92(3):220-225. doi: 10.15386/mpr-1083. Epub 2019 Jul 31.
    • Should All Patients With a Diagnosis of Breast Cancer Undergo Expanded Panel Testing?
    • Copur MS, Jonglertham P, Zusag T.
    • J Clin Oncol. 2019 Jun 27:JCO1900064. doi: 10.1200/JCO.19.00064. [Epub ahead of print]

    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Original research:

    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

    • Caveat Emptor: The Perils of Panel Testing in Hereditary Breast Cancer.
    • Taylor A, Tischkowitz M.
    • J Clin Oncol. 2019 Jun 27:JCO1900122. doi: 10.1200/JCO.19.00122. [Epub ahead of print]

    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Original research:

    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

    • The Time for Mainstreaming Germline Testing for Patients With Breast Cancer Is Now.
    • Rajagopal PS, Catenacci DVT, Olopade OI.
    • J Clin Oncol. 2019 Jun 27:JCO1900160. doi: 10.1200/JCO.19.00160. [Epub ahead of print]

    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Original research:

    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

    • High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer.
    • Bertelsen B, Tuxen IV, Yde CW, Gabrielaite M, Torp MH, Kinalis S, Oestrup O, Rohrberg K, Spangaard I, Santoni-Rugiu E, Wadt K, Mau-Sorensen M, Lassen U, Nielsen FC.
    • NPJ Genom Med. 2019 Jun 21;4:13. doi: 10.1038/s41525-019-0087-6. eCollection 2019.
    • Germline pathogenic variants in 7,636 Japanese patients with prostate cancer and 12,366 controls.
    • Momozawa Y, Iwasaki Y, Hirata M, Liu X, Kamatani Y, Takahashi A, Sugano K, Yoshida T, Murakami Y, Matsuda K, Nakagawa H, Spurdle AB, Kubo M.
    • J Natl Cancer Inst. 2019 Jun 19. pii: djz124. doi: 10.1093/jnci/djz124. [Epub ahead of print]
    • A study of mechanistic mapping of novel SNPs to male breast cancer.
    • Kaur RP, Kumar V, Shafi G, Vashistha R, Kulharia M, Munshi A.
    • Med Oncol. 2019 Jun 15;36(8):70. doi: 10.1007/s12032-019-1290-0.
    • A Simple Way to Make Genetic Counseling More Efficient and Accessible.
    • Markman M.
    • Medscape Oncology. 2019 Jun 14.

    Original research:

    Modified panel-based genetic counseling for ovarian cancer susceptibility: A randomized non-inferiority study.

    • Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families.
    • Lakeman IMM, Hilbers FS, Rodríguez-Girondo M, Lee A, Vreeswijk MPG, Hollestelle A, Seynaeve C, Meijers-Heijboer H, Oosterwijk JC, Hoogerbrugge N, Olah E, Vasen HFA, van Asperen CJ, Devilee P.
    • J Med Genet. 2019 Jun 11. pii: jmedgenet-2019-106072. doi: 10.1136/jmedgenet-2019-106072. [Epub ahead of print]
    • Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines.
    • Neben CL, Zimmer AD, Stedden W, van den Akker J, O'Connor R, Chan RC, Chen E, Tan Z, Leon A, Ji J, Topper S, Zhou AY.
    • J Mol Diagn. 2019 Jun 10. pii: S1525-1578(18)30334-9. doi: 10.1016/j.jmoldx.2019.03.001. [Epub ahead of print]

    Press: Multi-Gene Panel Testing Finds Pathogenic Variant Carriers Missed Under Current Testing Guidelines. (GenomeWeb)

    • Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
    • Tsaousis GN, Papadopoulou E, Apessos A, Agiannitopoulos K, Pepe G, Kampouri S, Diamantopoulos N, Floros T, Iosifidou R, Katopodi O, Koumarianou A, Markopoulos C, Papazisis K, Venizelos V, Xanthakis I, Xepapadakis G, Banu E, Eniu DT, Negru S, Stanculeanu DL, Ungureanu A, Ozmen V, Tansan S, Tekinel M, Yalcin S, Nasioulas G.
    • BMC Cancer. 2019 Jun 3;19(1):535. doi: 10.1186/s12885-019-5756-4.
    • [Contribution of Massive Parallel Sequencing to Diagnosis of Hereditary Ovarian Cancer in the Czech Republic.]
    • Soukupová J, Lhotová K, Zemánková P, Vočka M, Janatová M, Stolařová L, Borecká M, Kleiblová P, Macháčková E, Foretová L, Koudová M, Lhota F, Tavandzis S, Zikán M, Stránecký V, Veselá K, Panczak A, Kotlas J, Kleibl Z.
    • Klin Onkol. 2019 Summer;32(Supplementum2):72-78. doi: 10.14735/amko2019S72.
    • "Decoding hereditary breast cancer" benefits and questions from multigene panel testing.
    • Colas C, Golmard L, de Pauw A, Caputo SM, Stoppa-Lyonnet D.
    • Breast. 2019 Jun;45:29-35. doi: 10.1016/j.breast.2019.01.002. Epub 2019 Jan 8.
    • Review
    • A novel CHEK2 variant identified by next generation sequencing in an Indian family with hereditary breast cancer syndrome.
    • Bhai P, Saxena R, Kulshrestha S, Verma IC.
    • Cancer Genet. 2019 Jun;235-236:13-17. doi: 10.1016/j.cancergen.2019.05.003. Epub 2019 May 31.
    • Case report
    • Prevalence and characteristics of likely-somatic variants in cancer susceptibility genes among individuals who had hereditary pan-cancer panel testing.
    • Slavin TP, Coffee B, Bernhisel R, Logan J, Cox HC, Marcucci G, Weitzel J, Neuhausen SL, Mancini-DiNardo D.
    • Cancer Genet. 2019 Jun;235-236:31-38. doi: 10.1016/j.cancergen.2019.04.005. Epub 2019 Apr 13.
    • Cases and evidence for panel testing in cancer genetics: Is site-specific testing dead?
    • Thomas MH, Higgs LK, Modesitt SC, Schroen AT, Ring KL, Dillon PM.
    • J Genet Couns. 2019 Jun;28(3):700-707. doi: 10.1002/jgc4.1044. Epub 2019 Feb 1.
    • Case report
    • Characterization of BRCA1 and BRCA2 genetic variants in a cohort of Bahraini breast cancer patients using next-generation sequencing.
    • Al Hannan F, Keogh MB, Taha S, Al Buainain L.
    • Mol Genet Genomic Med. 2019 May 26:e771. doi: 10.1002/mgg3.771. [Epub ahead of print]
    • Prevalence and Clinical Impact of TP53 Germline Mutations in Chinese Women with Breast Cancer.
    • Sheng S, Xu Y, Guo Y, Yao L, Hu L, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Int J Cancer. 2019 May 21. doi: 10.1002/ijc.32424. [Epub ahead of print]
    • Breast Cancer Susceptibility—Towards Individualised Risk Prediction.
    • Lakeman IMM, Schmidt MK, van Asperen CJ, Devilee P.
    • Curr Genet Med Rep. 2019 May 17. doi: 10.1007/s40142-019-00168-5. [Epub ahead of print]
    • Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.
    • Nones K, Johnson J, Newell F, Patch AM, Thorne H, Kazakoff SH, de Luca XM, Parsons MT, Ferguson K, Reid L, Reed AEM, Srihari S, Lakis V, Davidson AL, Mukhopadhyay P, Holmes O, Xu Q, Wood S, Leonard C; Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab); Australian Breast Cancer Tissue Bank (ABCTB); Brisbane Breast Bank (BBB), Beesley J, Harris J, Barnes D, Degasperi A, Ragan MA, Spurdle AB, Khanna KK, Lakhani SR, Pearson JV, Nik-Zainal S, Chenevix-Trench G, Waddell N, Simpson PT.
    • Ann Oncol. 2019 May 15. pii: mdz132. doi: 10.1093/annonc/mdz132. [Epub ahead of print]

    Editorial:

    Journey's End: the quest for BRCA-like hereditary breast cancer genes is nearly over.

    • Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years.
    • Petridis C, Arora I, Shah V, Megalios A, Moss C, Mera A, Clifford A, Gillett C, Pinder SE, Tomlinson I, Roylance R, Simpson MA, Sawyer EJ.
    • Breast Cancer Res. 2019 May 6;21(1):58. doi: 10.1186/s13058-019-1143-y.
    • Screening for hereditary cancers in patients with endometrial cancer reveals a high frequency of germline mutations in cancer predisposition genes.
    • Tian W, Bi R, Ren Y, He H, Shi S, Shan B, Yang W, Wang Q, Wang H.
    • Int J Cancer. 2019 May 4. doi: 10.1002/ijc.32389. [Epub ahead of print]
    • Ampullary cancer: Evaluation of somatic and germline genetic alterations and association with clinical outcomes.
    • Wong W, Lowery MA, Berger MF, Kemel Y, Taylor B, Zehir A, Srinivasan P, Bandlamudi C, Chou J, Capanu M, Varghese A, Yu KH, Iacobuzio-Donahue CA, Shia J, Klimstra DS, Jarnagin WR, Stadler ZK, O'Reilly EM.
    • Cancer. 2019 May 1;125(9):1441-1448. doi: 10.1002/cncr.31951. Epub 2019 Jan 8.
    • Whole genome sequencing of breast cancer.
    • Rossing M, Sørensen CS, Ejlertsen B, Nielsen FC.
    • APMIS. 2019 May;127(5):303-315. doi: 10.1111/apm.12920. Epub 2019 Jan 28.
    • A narrative overview of the patients' outcomes after multigene cancer panel testing, and a thorough evaluation of its implications for genetic counselling.
    • Esteban I, Lopez-Fernandez A, Balmaña J.
    • Eur J Med Genet. 2019 May;62(5):342-349. doi: 10.1016/j.ejmg.2018.11.027. Epub 2018 Nov 23.
    • Review
    • Non-BRCA1/2 Variants Detected in a High-Risk Chilean Cohort With a History of Breast and/or Ovarian Cancer.
    • Adaniel C, Salinas F, Donaire JM, Bravo ME, Peralta O, Paredes H, Aliaga N, Sola A, Neira P, Behnke C, Rodriguez T, Torres S, Lopez F, Hurtado C.
    • J Glob Oncol. 2019 May;(5):1-14. doi: 10.1200/JGO.18.00163.
    • Cases in Precision Medicine: When Patients Present With Direct-to-Consumer Genetic Test Results.
    • Artin MG, Stiles D, Kiryluk K, Chung WK.
    • Ann Intern Med. 2019 Apr 30. doi: 10.7326/M18-2356. [Epub ahead of print]
    • Case report
    • Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples.
    • Zakrzewski F, Gieldon L, Rump A, Seifert M, Grützmann K, Krüger A, Loos S, Zeugner S, Hackmann K, Porrmann J, Wagner J, Kast K, Wimberger P, Baretton G, Schröck E, Aust D, Klink B.
    • BMC Cancer. 2019 Apr 27;19(1):396. doi: 10.1186/s12885-019-5584-6.
    • Understanding inherited risk in unselected newly diagnosed patients with endometrial cancer.
    • Cadoo KA, Mandelker DL, Mukherjee S, Stewart C, DeLair D, Ravichandran V, Srinivasan P, Hurley D, Kemel Y, Arnold AG, Sheehan M, Pradhan N, Joseph V, Chi DS, Gardner GJ, Jewell EL, Leitao MM Jr, Roche KL, Mueller JJ, Sonoda Y, Zivanovic O, Walsh M, Carlo MI, Berger MF, Hyman D, Zhang L, Robson ME, Offit K, Aghajanian C, Rustum NRA, Stadler Z.
    • JCO Precis Oncol. 2019;3:10.1200/po.18.00338. doi: 10.1200/po.18.00338. Epub 2019 Apr 25.
    • Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs).
    • Talukdar S, Hawkes L, Hanson H, Kulkarni A, Brady AF, McMullan DJ, Ahn JW, Woodward E, Turnbull C; UK Association for Clinical Genomic Science and UK Cancer Genetics Group.
    • J Med Genet. 2019 Apr 24. pii: jmedgenet-2018-105820. doi: 10.1136/jmedgenet-2018-105820. [Epub ahead of print]
    • Guidelines
    • Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer.
    • Nicolussi A, Belardinilli F, Mahdavian Y, Colicchia V, D'Inzeo S, Petroni M, Zani M, Ferraro S, Valentini V, Ottini L, Giannini G, Capalbo C, Coppa A.
    • PeerJ. 2019 Apr 22;7:e6661. doi: 10.7717/peerj.6661. eCollection 2019.
    • Germline Genetic Testing in Advanced Prostate Cancer; Practices and Barriers: Survey Results from the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium.
    • Paller CJ, Antonarakis ES, Beer TM, Borno HT, Carlo MI, George DJ, Graff JN, Gupta S, Heath EI, Higano CS, McKay RR, Morgans AK, Patnaik A, Petrylak DP, Rettig MB, Ryan C, Taplin ME, Whang YE, Vinson J, Cheng HH, Giri VN; PCCTC Germline Genetics Working Group.
    • Clin Genitourin Cancer. 2019 Apr 18. pii: S1558-7673(19)30139-9. doi: 10.1016/j.clgc.2019.04.013. [Epub ahead of print]
    • Breast Cancer Genetic Testing Guidelines 'Simply Are Not Effective'.
    • Miller KD
    • Medscape. Medscape Oncology. 2019 Apr 18.

    Original research:

    Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?

    Original research:

    Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.

    • Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
    • Girard E, Eon-Marchais S, Olaso R, Renault AL, Damiola F, Dondon MG, Barjhoux L, Goidin D, Meyer V, Le Gal D, Beauvallet J, Mebirouk N, Lonjou C, Coignard J, Marcou M, Cavaciuti E, Baulard C, Bihoreau MT, Cohen-Haguenauer O, Leroux D, Penet C, Fert-Ferrer S, Colas C, Frebourg T, Eisinger F, Adenis C, Fajac A, Gladieff L, Tinat J, Floquet A, Chiesa J, Giraud S, Mortemousque I, Soubrier F, Audebert-Bellanger S, Limacher JM, Lasset C, Lejeune-Dumoulin S, Dreyfus H, Bignon YJ, Longy M, Pujol P, Venat-Bouvet L, Bonadona V, Berthet P, Luporsi E, Maugard CM, Noguès C, Delnatte C, Fricker JP, Gesta P, Faivre L, Lortholary A, Buecher B, Caron O, Gauthier-Villars M, Coupier I, Servant N, Boland A, Mazoyer S, Deleuze JF, Stoppa-Lyonnet D, Andrieu N, Lesueur F.
    • Int J Cancer. 2019 Apr 15;144(8):1962-1974. doi: 10.1002/ijc.31921. Epub 2018 Nov 13.
    • Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.
    • Wang J, Li W, Shi Y, Huang Y, Sun T, Tang L, Lu Q, Lei Q, Liao N, Jin F, Li H, Huang T, Qian J, Pang D, Wang S, Fan P, Wu X, Lin Y, Qin H, Xu B.
    • Cancer Med. 2019 Apr 13. doi: 10.1002/cam4.2093. [Epub ahead of print]
    • Development and testing of the KnowGene scale to assess general cancer genetic knowledge related to multigene panel testing.
    • Underhill-Blazey M, Stopfer J, Chittenden A, Nayak MM, Lansang K, Lederman R, Garber J, Gundersen DA.
    • Patient Educ Couns. 2019 Apr 13. pii: S0738-3991(19)30138-7. doi: 10.1016/j.pec.2019.04.014. [Epub ahead of print]
    • Multigene panel testing in unselected Israeli breast cancer cases: mutational spectrum and use of BRCA1/2 mutation prediction algorithms.
    • Bernstein-Molho R, Singer A, Laitman Y, Netzer I, Zalmanoviz S, Friedman E.
    • Breast Cancer Res Treat. 2019 Apr 12. doi: 10.1007/s10549-019-05228-6. [Epub ahead of print]
    • Comparative genetic profiling aids diagnosis and clinical decision making in challenging cases of CUP syndrome.
    • Bochtler T, Endris V, Leichsenring J, Reiling A, Neumann O, Volckmar AL, Kirchner M, Allgäuer M, Schirmacher P, Krämer A, Stenzinger A.
    • Int J Cancer. 2019 Apr 9. doi: 10.1002/ijc.32316. [Epub ahead of print]
    • Defective homologous recombination DNA repair as therapeutic target in advanced chordoma.
    • Gröschel S, Hübschmann D, Raimondi F, Horak P, Warsow G, Fröhlich M, Klink B, Gieldon L, Hutter B, Kleinheinz K, Bonekamp D, Marschal O, Chudasama P, Mika J, Groth M, Uhrig S, Krämer S, Heining C, Heilig CE, Richter D, Reisinger E, Pfütze K, Eils R, Wolf S, von Kalle C, Brandts C, Scholl C, Weichert W, Richter S, Bauer S, Penzel R, Schröck E, Stenzinger A, Schlenk RF, Brors B, Russell RB, Glimm H, Schlesner M, Fröhling S.
    • Nat Commun. 2019 Apr 9;10(1):1635. doi: 10.1038/s41467-019-09633-9.
    • A Pediatric Case of Transformed Mycosis Fungoides in a BRCA2 Positive Patient.
    • Gross AM, Turner J, Kirkorian AY, Okoye GA, Luca DC, Bornhorst M, Jacobs SS, Williams KM, Schore RJ.
    • J Pediatr Hematol Oncol. 2019 Apr 8. doi: 10.1097/MPH.0000000000001481. [Epub ahead of print]
    • Case report
    • Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.
    • Shahi RB, De Brakeleer S, Caljon B, Pauwels I, Bonduelle M, Joris S, Fontaine C, Vanhoeij M, Van Dooren S, Teugels E, De Grève J.
    • BMC Cancer. 2019 Apr 4;19(1):313. doi: 10.1186/s12885-019-5494-7.
    • Prevalence of germline variants in inflammatory breast cancer.
    • Rana HQ, Sacca R, Drogan C, Gutierrez S, Schlosnagle E, Regan MM, Speare V, LaDuca H, Dolinsky J, Garber JE, Overmoyer BA.
    • Cancer. 2019 Apr 1. doi: 10.1002/cncr.32062. [Epub ahead of print]
    • Clinical implications of germline mutations in breast cancer genes: RECQL.
    • Bowden AR, Tischkowitz M.
    • Breast Cancer Res Treat. 2019 Apr;174(3):553-560. doi: 10.1007/s10549-018-05096-6. Epub 2019 Jan 4.
    • Ovarian small cell carcinoma in one of a pair of monozygous twins.
    • Fahiminiya S, Sabbaghian N, Albrecht S, Nadaf J, Callegaro-Filho D, Foulkes WD.
    • Fam Cancer. 2019 Apr;18(2):161-163. doi: 10.1007/s10689-018-0108-0.
    • Letter, Case report
    • Monoallelic MUTYH carrier status is not associated with increased breast cancer risk in a multigene panel cohort.
    • Fulk K, LaDuca H, Black MH, Qian D, Tian Y, Yussuf A, Espenschied C, Jasperson K.
    • Fam Cancer. 2019 Apr;18(2):197-201. doi: 10.1007/s10689-018-00114-4.
    • Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility.
    • Rowley SM, Mascarenhas L, Devereux L, Li N, Amarasinghe KC, Zethoven M, Lee JEA, Lewis A, Morgan JA, Limb S, Young MA, James PA, Trainer AH, Campbell IG.
    • Genet Med. 2019 Apr;21(4):913-922. doi: 10.1038/s41436-018-0277-0. Epub 2018 Sep 26.
    • Modified panel-based genetic counseling for ovarian cancer susceptibility: A randomized non-inferiority study.
    • McCuaig JM, Tone AA, Maganti M, Romagnuolo T, Ricker N, Shuldiner J, Rodin G, Stockley T, Kim RH, Bernardini MQ.
    • Gynecol Oncol. 2019 Apr;153(1):108-115. doi: 10.1016/j.ygyno.2018.12.027. Epub 2019 Jan 10.

    Commentary: A Simple Way to Make Genetic Counseling More Efficient and Accessible. (Medscape Oncology)

    • Uncertainty related to multigene panel testing for cancer: a qualitative study on counsellors' and counselees' views.
    • Medendorp NM, Hillen MA, Murugesu L, Aalfs CM, Stiggelbout AM, Smets EMA.
    • J Community Genet. 2019 Apr;10(2):303-312. doi: 10.1007/s12687-018-0393-1. Epub 2018 Nov 14.
    • Germline mutations in cancer susceptibility genes in high grade serous ovarian cancer in Serbia.
    • Krivokuca A, Boljevic I, Jovandic S, Magic Z, Mandic A, Tomasevic Z, Brankovic-Magic M.
    • J Hum Genet. 2019 Apr;64(4):281-290. doi: 10.1038/s10038-019-0562-z. Epub 2019 Jan 16.
    • Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.
    • Nurmi A, Muranen TA, Pelttari LM, Kiiski JI, Heikkinen T, Lehto S, Kallioniemi A, Schleutker J, Bützow R, Blomqvist C, Aittomäki K, Nevanlinna H.
    • Int J Cancer. 2019 Mar 30. doi: 10.1002/ijc.32309. [Epub ahead of print]
    • Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels.
    • Feliubadaló L, López-Fernández A, Pineda M, Díez O, Del Valle J, Gutiérrez-Enríquez S, Teulé A, González S, Stjepanovic N, Salinas M, Capellá G, Brunet J, Lázaro C, Balmaña J; Catalan Hereditary Cancer Group.
    • Int J Cancer. 2019 Mar 29. doi: 10.1002/ijc.32304. [Epub ahead of print]
    • Breast surgeons recommend genetic testing for all breast cancer patients.
    • [No author given]
    • FORCE. XRAYS. 2019 Mar 25.

    Guideline: Consensus Guideline on Genetic Testing for Hereditary Breast Cancer. (PDF) (American Society of Breast Surgeons.)

    • Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.
    • Pan ZW, Wang XJ, Chen T, Ding XW, Jiang X, Gao Y, Mo WJ, Huang Y, Lou CJ, Cao WM.
    • Front Oncol. 2019 Mar 22;9:169. doi: 10.3389/fonc.2019.00169. eCollection 2019.
    • Ambry and My Gene Counsel Team Up on Tests to Confirm DTC Results, Counseling.
    • [No author given.]
    • Clinical OMICs. 2019 Mar 19.

    Original research:

    False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.

    • Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world.
    • Ow SGW, Ong PY, Lee SC.
    • PLoS One. 2019 Mar 15;14(3):e0213746. doi: 10.1371/journal.pone.0213746. eCollection 2019.
    • Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.
    • Lin PC, Yeh YM, Wu PY, Hsu KF, Chang JY, Shen MR.
    • Sci Rep. 2019 Mar 8;9(1):3931. doi: 10.1038/s41598-019-40571-0.
    • Prevalence of nonfounder BRCA1/2 mutations in Ashkenazi Jewish patients presenting for genetic testing at a hereditary breast and ovarian cancer center.
    • Frey MK, Kopparam RV, Ni Zhou Z, Fields JC, Buskwofie A, Carlson AD, Caputo T, Holcomb K, Chapman-Davis E.
    • Cancer. 2019 Mar 1;125(5):690-697. doi: 10.1002/cncr.31856. Epub 2018 Nov 27.
    • Women with breast and uterine cancer are more likely to harbor germline mutations than women with breast or uterine cancer alone: A case for expanded gene testing.
    • Fulk K, Milam MR, Li S, Yussuf A, Black MH, Chao EC, LaDuca H, Stany MP.
    • Gynecol Oncol. 2019 Mar;152(3):612-617. doi: 10.1016/j.ygyno.2018.12.021. Epub 2019 Jan 3.
    • Multigene panel testing versus syndrome-specific germline testing for inherited cancer risk: 'a somewhat different way'.
    • Biller LH, Yurgelun MB.
    • Per Med. 2019 Mar;16(2):83-86. doi: 10.2217/pme-2018-0109. Epub 2019 Feb 11.
    • Editorial
    • Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?
    • Beitsch PD, Whitworth PW, Hughes K, Patel R, Rosen B, Compagnoni G, Baron P, Simmons R, Smith LA, Grady I, Kinney M, Coomer C, Barbosa K, Holmes DR, Brown E, Gold L, Clark P, Riley L, Lyons S, Ruiz A, Kahn S, MacDonald H, Curcio L, Hardwick MK, Yang S, Esplin ED, Nussbaum RL.
    • J Clin Oncol. 2019 Feb 20;37(6):453-460. doi: 10.1200/JCO.18.01631. Epub 2018 Dec 7.

    Editorial:

    Advances in Genetic Testing in Patients With Breast Cancer, High-Quality Decision Making, and Responsible Resource Allocation.

    Letter, Commentary:

    Should All Patients With a Diagnosis of Breast Cancer Undergo Expanded Panel Testing?

    Letter, Commentary:

    Caveat Emptor: The Perils of Panel Testing in Hereditary Breast Cancer.

    Letter, Commentary:

    The Time for Mainstreaming Germline Testing for Patients With Breast Cancer Is Now.

    Letter, Reply:

    Reply to M.S. Copur et al, A. Taylor et al, and P.S. Rajagopal et al.

    Press: Genetic Testing Misses Half of Women at Risk for Breast Cancer. (Medscape Oncology)

    Commentary: Breast Cancer Genetic Testing Guidelines 'Simply Are Not Effective'. (Medscape Oncology)

    • PROREPAIR-B: A Prospective Cohort Study of the Impact of Germline DNA Repair Mutations on the Outcomes of Patients With Metastatic Castration-Resistant Prostate Cancer.
    • Castro E, Romero-Laorden N, Del Pozo A, Lozano R, Medina A, Puente J, Piulats JM, Lorente D, Saez MI, Morales-Barrera R, Gonzalez-Billalabeitia E, Cendón Y, García-Carbonero I, Borrega P, Mendez Vidal MJ, Montesa A, Nombela P, Fernández-Parra E, Gonzalez Del Alba A, Villa-Guzmán JC, Ibáñez K, Rodriguez-Vida A, Magraner-Pardo L, Perez-Valderrama B, Vallespín E, Gallardo E, Vazquez S, Pritchard CC, Lapunzina P, Olmos D.
    • J Clin Oncol. 2019 Feb 20;37(6):490-503. doi: 10.1200/JCO.18.00358. Epub 2019 Jan 9.
    • Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis.
    • Zhang L, Bao Y, Riaz M, Tiller J, Liew D, Zhuang X, Amor DJ, Huq A, Petelin L, Nelson M, James PA, Winship I, McNeil JJ, Lacaze P.
    • Genet Med. 2019 Feb 18. doi: 10.1038/s41436-019-0457-6. [Epub ahead of print]
    • Germline DNA Repair Gene Mutations in Young-onset Prostate Cancer Cases in the UK: Evidence for a More Extensive Genetic Panel.
    • Leongamornlert DA, Saunders EJ, Wakerell S, Whitmore I, Dadaev T, Cieza-Borrella C, Benafif S, Brook MN, Donovan JL, Hamdy FC, Neal DE, Muir K, Govindasami K, Conti DV, Kote-Jarai Z, Eeles RA.
    • Eur Urol. 2019 Feb 15. pii: S0302-2838(19)30096-X. doi: 10.1016/j.eururo.2019.01.050. [Epub ahead of print]

    Press: Numerous DNA-Repair Genes Associated With Prostate-Cancer Risk. (Medscape Oncology)

    • Multigene panel testing versus syndrome-specific germline testing for inherited cancer risk: 'a somewhat different way'.
    • Biller LH, Yurgelun MB.
    • Per Med. 2019 Feb 11. doi: 10.2217/pme-2018-0109. [Epub ahead of print]
    • Consensus Guideline on Genetic Testing for Hereditary Breast Cancer.
    • Manahan ER, Sebastian M, Hughes KS, Boughey JC, Kuerer HM, Euhus DM, Robson ME, Boolbol SK, Arun BK, Taylor WA.
    • American Society of Breast Surgeons. 2019 Feb 10.

    Press: ASBrS Calls for Genetic Testing for All Breast Cancer Patients. (Medscape Oncology)

    News: Breast surgeons recommend genetic testing for all breast cancer patients. (FORCE. XRAYS.)

    • The Cost-Effectiveness of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer in Norway.
    • Asphaug L, Melberg HO.
    • MDM Policy Pract. 2019 Feb 1;4(1):2381468318821103. doi: 10.1177/2381468318821103. eCollection 2019 Jan-Jun.
    • Preferences for in-person disclosure: Patients declining telephone disclosure characteristics and outcomes in the multicenter Communication Of GENetic Test Results by Telephone study.
    • Beri N, Patrick-Miller LJ, Egleston BL, Hall MJ, Domchek SM, Daly MB, Ganschow P, Grana G, Olopade OI, Fetzer D, Brandt A, Chambers R, Clark DF, Forman A, Gaber R, Gulden C, Horte J, Long J, Lucas T, Madaan S, Mattie K, McKenna D, Montgomery S, Nielsen S, Powers J, Rainey K, Rybak C, Savage M, Seelaus C, Stoll J, Stopfer JE, Yao XS, Bradbury AR.
    • Clin Genet. 2019 Feb;95(2):293-301. doi: 10.1111/cge.13474. Epub 2018 Dec 7.
    • [Hereditary predisposition to breast cancer (1): genetics].
    • Cohen-Haguenauer O.
    • Med Sci (Paris). 2019 Feb;35(2):138-151. doi: 10.1051/medsci/2019003. Epub 2019 Feb 18.
    • Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.
    • Henn J, Spier I, Adam RS, Holzapfel S, Uhlhaas S, Kayser K, Plotz G, Peters S, Aretz S.
    • Hered Cancer Clin Pract. 2019 Jan 23;17:5. doi: 10.1186/s13053-018-0102-4. eCollection 2019.
    • The Benefits and Blinders of Do-Goodism.
    • Resta R.
    • The DNA Exchange. 2019 Jan 20.
    • Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS).
    • Ramírez-Calvo M, García-Casado Z, Fernández-Serra A, de Juan I, Palanca S, Oltra S, Soto JL, Castillejo A, Barbera VM, Juan-Fita MJ, Segura Á, Chirivella I, Sánchez AB, Tena I, Chaparro C, Salas D, López-Guerrero JA.
    • Hered Cancer Clin Pract. 2019 Jan 18;17:3. doi: 10.1186/s13053-019-0104-x. eCollection 2019.
    • A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study.
    • Nunziato M, Esposito MV, Starnone F, Diroma MA, Calabrese A, Del Monaco V, Buono P, Frasci G, Botti G, D'Aiuto M, Salvatore F, D'Argenio V.
    • Anal Chim Acta. 2019 Jan 10;1046:154-162. doi: 10.1016/j.aca.2018.09.032. Epub 2018 Sep 18.
    • Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study.
    • Yi D, Xu L, Luo J, You X, Huang T, Zi Y, Li X, Wang R, Zhong Z, Tang X, Li A, Shi Y, Rao J, Zhang Y, Sang J.
    • Hum Genomics. 2019 Jan 10;13(1):4. doi: 10.1186/s40246-018-0186-y.
    • Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
    • Lu HM, Li S, Black MH, Lee S, Hoiness R, Wu S, Mu W, Huether R, Chen J, Sridhar S, Tian Y, McFarland R, Dolinsky J, Tippin Davis B, Mexal S, Dunlop C, Elliott A.
    • JAMA Oncol. 2019 Jan 1;5(1):51-57. doi: 10.1001/jamaoncol.2018.2956.

    Commentary:

    Hereditary Breast and Ovarian Cancer Testing in the Genomic Era.

    Letter:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter, Reply:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6-Reply.

    • Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.
    • Evans DG, Howell SJ, Peltonen J.
    • JAMA Oncol. 2019 Jan 1;5(1):119-120. doi: 10.1001/jamaoncol.2018.6905.
    • Letter, Comment

    Original research:

    Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

    Letter, Comment:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter, Comment:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.

    Letter, Reply:

    Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6-Reply.

    • The Role of BRCA Testing in Hereditary Pancreatic and Prostate Cancer Families.
    • Pilarski R.
    • Am Soc Clin Oncol Educ Book. 2019 Jan;(39):79-86. doi: 10.1200/EDBK_238977.
    • European Breast Cancer Council manifesto 2018: Genetic risk prediction testing in breast cancer.
    • Rutgers E, Balmana J, Beishon M, Benn K, Evans DG, Mansel R, Pharoah P, Perry Skinner V, Stoppa-Lyonnet D, Travado L, Wyld L.
    • Eur J Cancer. 2019 Jan;106:45-53. doi: 10.1016/j.ejca.2018.09.019. Epub 2018 Nov 22.
    • Psychosocial and behavioral outcomes of genomic testing in cancer: a systematic review.
    • Yanes T, Willis AM, Meiser B, Tucker KM, Best M.
    • Eur J Hum Genet. 2019 Jan;27(1):28-35. doi: 10.1038/s41431-018-0257-5. Epub 2018 Sep 11.
    • Review
    • Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer.
    • Yurgelun MB, Chittenden AB, Morales-Oyarvide V, Rubinson DA, Dunne RF, Kozak MM, Qian ZR, Welch MW, Brais LK, Da Silva A, Bui JL, Yuan C, Li T, Li W, Masuda A, Gu M, Bullock AJ, Chang DT, Clancy TE, Linehan DC, Findeis-Hosey JJ, Doyle LA, Thorner AR, Ducar MD, Wollison BM, Khalaf N, Perez K, Syngal S, Aguirre AJ, Hahn WC, Meyerson ML, Fuchs CS, Ogino S, Hornick JL, Hezel AF, Koong AC, Nowak JA, Wolpin BM.
    • Genet Med. 2019 Jan;21(1):213-223. doi: 10.1038/s41436-018-0009-5. Epub 2018 Jul 2.
    • Cancer susceptibility gene mutations in type I and II endometrial cancer.
    • Long B, Lilyquist J, Weaver A, Hu C, Gnanaolivu R, Lee KY, Hart SN, Polley EC, Bakkum-Gamez JN, Couch FJ, Dowdy SC.
    • Gynecol Oncol. 2019 Jan;152(1):20-25. doi: 10.1016/j.ygyno.2018.10.019. Epub 2018 Oct 26.
    • The clinical importance of BRCAness in a population-based cohort of Danish epithelial ovarian cancer.
    • Hjortkjær M, Malik Aagaard Jørgensen M, Waldstrøm M, Ørnskov D, Søgaard-Andersen E, Jakobsen A, Dahl-Steffensen K.
    • Int J Gynecol Cancer. 2019 Jan;29(1):166-173. doi: 10.1136/ijgc-2018-000017.

Continue to Older References