• 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, del Carmen Soriano M, 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.
    • 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.
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    • 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.
    • 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 Sep 12. doi: 10.1007/s10549-022-06723-z. 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.
    • 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 Sep 10. doi: 10.1007/s10549-022-06742-w. Epub ahead of print.

    Original research:

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

    • 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.
    • HRD-MILN: Accurately estimate tumor homologous recombination deficiency status from targeted panel sequencing data.
    • Wang J, Zhang S, Wang X, Zhang Y, Xu Y, Wang S, Zhang X, Yi X.
    • Front Genet. 2022 Sep 9;12:990244. doi: 10.3389/fgene.2022.990244.
    • 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.
    • 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
    • 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 Aug 30. doi: 10.1002/cncr.34434. Epub ahead of print.
    • 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.
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    Research news: Inherited Cancer Risk Detected in Significant Subset of Wilms Tumor Cases. (GenomeWeb)

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    • Letter, Case report

    Case report:

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

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    Commentary:

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

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

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    Commentary:

    Gene sequencing in ovarian cancer: continually moving targets.

    Commentary:

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

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    Commentary:

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

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    Dataset description:

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

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    • 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.
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    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)

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    • Germline mutations in Black patients with ovarian, fallopian tube and primary peritoneal carcinomas.
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    • Understanding the Clinical Implications of Low Penetrant Genes and Breast Cancer Risk.
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    • 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.
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    • 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)

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    • Review
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    • Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes.
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    • 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.
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    • 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.
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    • 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.

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    • Implications of targeted next-generation sequencing for bladder cancer: report of four cases.
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    • Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?
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    • 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.

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    • 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.
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    • Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?
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    • Genetic Testing Challenges in Oncology: Immigrant Mislabeled as BRCA-Positive, Regrets Ovary Removal.
    • Ray T.
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    • 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.
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    • A hereditary ovarian cancer family with rare pathogenic splicing mutation: Implications for variant interpretation.
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    • Case report
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    • [No author given]
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    • 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.
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    • Oncologists, Patients Still Face Unpredictable Payor Coverage for Broad Tissue NGS Panels.
    • Hopkins C.
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    • Review, eBook chapter
    • Multigene Panel Testing for Hereditary Cancer and Genetic Counseling.
    • Lee ES, Kim J, Han W.
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    • 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.
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    • Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes.
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    • Novel Approach Using Administrative Claims to Evaluate Trends in Oncology Multigene Panel Testing for Patients Enrolled in Medicare Advantage Health Plans.
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    • Germline Sequencing DNA Repair Genes in 5545 Men With Aggressive and Nonaggressive Prostate Cancer.
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    • Precision medicine testing in ovarian cancer: The growing inequity between patients with commercial vs medicaid insurance.
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    • 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.
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    • 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.
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    • 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.
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    • Review
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    • Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.
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    • Psychosocial outcomes following germline multigene panel testing in an ethnically and economically diverse cohort of patients.
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    • Effect of Germline Mutations in Homologous Recombination Repair Genes on Overall Survival of Patients with Pancreatic Adenocarcinoma.
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    • 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?

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    • Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma.
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    • Pathogenic Germline Mutations of DNA Repair Pathway Components in Early-Onset Sporadic Colorectal Polyp and Cancer Patients.
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    • Expanded Panel Testing Uncovered My ATM Mutation.
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    • Multigene Panel Germline Testing of Cancer Patients Detects Unexpected Pathogenic Variants.
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    • Conference News
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    • 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.
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    • 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.
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    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.

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    • Review
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    • The mediating effects of public genomic knowledge in precision medicine implementation: A structural equation model approach.
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    • Genetic counseling in prostate cancer: How to implement it in daily clinical practice?
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    • 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.
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    • Reliability and reproducibility among different platforms for tumour BRCA testing in ovarian cancer: a study of the Italian NGS Network.
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    • Inherited mutations in fallopian tube, ovarian and primary peritoneal carcinoma: Changes in diagnoses and mutational frequency over 20 years.
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    • Targeted sequencing of crucial cancer causing genes of breast cancer in Saudi patients.
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    • Gene Panel Tumor Testing in Ovarian Cancer Patients Significantly Increases the Yield of Clinically Actionable Germline Variants beyond BRCA1/BRCA2.
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    • Genetic testing approaches for hereditary breast cancer: Perspectives from a private diagnostic laboratory.
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    • Impact of Numeracy Preferences on Information Needs for Genome Sequencing Results.
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    • Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes.
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    • Identification of novel candidate genes by exome sequencing in Tunisian familial male breast cancer patients.
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    • 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.
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    • Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario.
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    • 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.
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    • 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.
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    • 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.
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    • Informing models of cancer genetic care in the era of multigene panel testing with patient-led recommendations.
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    • 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.
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    • Genetic Counseling for Hereditary Gastric and Pancreatic Cancer in High-Risk Gastrointestinal Cancer Clinics: An Effective Strategy.
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    • 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.
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    • 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.
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    • Comparison of Molecular, Clinicopathological, and Pedigree Differences Between Lynch-Like and Lynch Syndromes.
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    • Performance evaluation of an amplicon-based next-generation sequencing panel for BRCA1 and BRCA2 variant detection.
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    • Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers.
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    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.
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    • Somatic BRCA Mutation in a Cholangiocarcinoma Patient for HBOC Syndrome Detection.
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    • 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.
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    • Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC).
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    • Streamlining genetic testing for women with ovarian cancer in a Northern California health care system.
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    • Genetic Testing Challenges in Oncology: Assuming All Labs Are Equal Gives False Reassurance of Risk.
    • Ray T.
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    • Differences in cancer prevalence among CHEK2 carriers identified via multi-gene panel testing.
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    • Contralateral Risk-Reducing Mastectomy in Breast Cancer Patients Who Undergo Multigene Panel Testing.
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    • Germlines 'Rich Source' of Prostate Cancer Info.
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    • Review
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    • Review
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    • 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.
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    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.
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    • 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.
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    • New germline mutations in non-BRCA genes among breast cancer women of Mongoloid origin.
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    • 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.
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    • 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.
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    • Clinical characteristics and exploratory genomic analyses of germline BRCA1 or BRCA2 mutations in breast cancer.
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    • 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.
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    • Validation of a next generation sequencing assay for BRCA1, BRCA2, CHEK2 and PALB2 genetic testing.
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    • 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.
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    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.
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    • 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.
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    • 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.
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    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.
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    • Genetic screening results of individuals with high risk BRCA-related breast/ovarian cancer in Trakya region of Turkey.
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    • 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.
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    • 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.
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    • 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.
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    • 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.
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    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.

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    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.)

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    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.

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    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?

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    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.
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    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?

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    Original research:

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

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    Editorial:

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

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    • Review
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    • Understanding inherited risk in unselected newly diagnosed patients with endometrial cancer.
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    • Guidelines
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    • 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.
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    • 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.
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    • 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.
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    • 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.
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    • 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.
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    • Comparative genetic profiling aids diagnosis and clinical decision making in challenging cases of CUP syndrome.
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    • Defective homologous recombination DNA repair as therapeutic target in advanced chordoma.
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    • 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.
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    • 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.
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    • Clinical implications of germline mutations in breast cancer genes: RECQL.
    • Bowden AR, Tischkowitz M.
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    • Ovarian small cell carcinoma in one of a pair of monozygous twins.
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    • 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.
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    • 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.
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    • Letter, Comment

    Original Research:

    Uptake, Results, and Outcomes of Germline Multiple-Gene Sequencing After Diagnosis of Breast Cancer.

    Letter, reply:

    Cancer Risk Estimates for Study of Multiple-Gene Testing After Diagnosis of Breast Cancer—Reply

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    Research news: Genetic testing does not cause undue worry for breast cancer patients. (Rogel Cancer Center. Michigan Medicine)

    Press: Multi-Gene Panel Breast Cancer Tests Don't Faze Women. (Medscape Oncology)

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    Research news: Can population-based DNA sequencing identify those at risk for hereditary cancers? (FORCE. XRAYS.)

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    • Caswell-Jin JL, Zimmer AD, Stedden W, Kingham KE, Zhou AY, Kurian AW.
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    • Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
    • Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF.
    • JAMA Netw Open. 2018 Sep 7;1(5):e182140. doi: 10.1001/jamanetworkopen.2018.2140.
    • Population based germline testing for primary cancer prevention.
    • Manchanda R, Legood R.
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    Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women.

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    • Randomized Noninferiority Trial of Telephone vs In-Person Disclosure of Germline Cancer Genetic Test Results.
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    • Review
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    • How Should Genetic Counseling for Ovarian Cancer Be Implemented in a Middle-Income Country? An Insight Based on the Brazilian Scenario.
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    • Review
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    Press: Multigene Sequencing Rapidly Replacing BRCA Tests. (Medscape Oncology)

    Letter, Comment:

    Cancer Risk Estimates for Study of Multiple-Gene Testing After Diagnosis of Breast Cancer.

    Letter, Reply:

    Cancer Risk Estimates for Study of Multiple-Gene Testing After Diagnosis of Breast Cancer-Reply.

    • Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing.
    • Shimelis H, LaDuca H, Hu C, Hart SN, Na J, Thomas A, Akinhanmi M, Moore RM, Brauch H, Cox A, Eccles DM, Ewart-Toland A, Fasching PA, Fostira F, Garber J, Godwin AK, Konstantopoulou I, Nevanlinna H, Sharma P, Yannoukakos D, Yao S, Feng BJ, Tippin Davis B, Lilyquist J, Pesaran T, Goldgar DE, Polley EC, Dolinsky JS, Couch FJ.
    • J Natl Cancer Inst. 2018 Aug 1;110(8):855-862. doi: 10.1093/jnci/djy106.

    Research news:

    New triple-negative breast cancer risk genes identified.

    Research news: Triple-negative: Genes associated with risk for aggressive breast cancer. (Science Daily)

    Research news: Triple-Negative Breast Cancer Risk Linked to Germline Variants in Several Cancer Genes. (Precision Oncology News)

    Research news: Study identifies genes associated with risk of triple-negative breast cancer. (FORCE. XRAYS.)

    • Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing.
    • Rana HQ, Gelman R, LaDuca H, McFarland R, Dalton E, Thompson J, Speare V, Dolinsky JS, Chao EC, Garber JE.
    • J Natl Cancer Inst. 2018 Aug 1;110(8):863-870. doi: 10.1093/jnci/djy001.

    Editorial:

    Testing Positive on a Multigene Panel Does Not Suffice to Determine Disease Risks.

    • FFPE breast tumour blocks provide reliable sources of both germline and malignant DNA for investigation of genetic determinants of individual tumour responses to treatment.
    • Wilkins A, Chauhan R, Rust A, Pearson A, Daley F, Manodoro F, Fenwick K, Bliss J, Yarnold J, Somaiah N.
    • Breast Cancer Res Treat. 2018 Aug;170(3):573-581. doi: 10.1007/s10549-018-4798-7. Epub 2018 Feb 22.
    • Beyond BRCA: A Case Series Examining the Advent of Multigene Panel Testing.
    • Reap L, Ahsan S, Saleh M.
    • Clin Breast Cancer. 2018 Aug;18(4):e431-e439. doi: 10.1016/j.clbc.2018.03.015. Epub 2018 Apr 6.
    • Breast Cancer Genetics and Indications for Prophylactic Mastectomy.
    • Krontiras H, Farmer M, Whatley J.
    • Surg Clin North Am. 2018 Aug;98(4):677-685. doi: 10.1016/j.suc.2018.03.004. Epub 2018 May 30.
    • Review
    • Sputum Detection of Predisposing Genetic Mutations in Women with Pulmonary Nontuberculous Mycobacterial Disease.
    • Philley JV, Hertweck KL, Kannan A, Brown-Elliott BA, Wallace RJ Jr, Kurdowska A, Ndetan H, Singh KP, Miller EJ, Griffith DE, Dasgupta S.
    • Sci Rep. 2018 Jul 27;8(1):11336. doi: 10.1038/s41598-018-29471-x.
    • Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes.
    • Hu C, LaDuca H, Shimelis H, Polley EC, Lilyquist J, Hart SN, Na J, Thomas A, Lee KY, Davis BT, Black MH, Pesaran T, Goldgar DE, Dolinsky JS, Couch FJ.
    • JCO Precis Oncol. 2018;2. doi: 10.1200/PO.17.00291. Epub 2018 Jul 25.
    • BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study.
    • Kowalik A, Siołek M, Kopczyński J, Krawiec K, Kalisz J, Zięba S, Kozak-Klonowska B, Wypiórkiewicz E, Furmańczyk J, Nowak-Ozimek E, Chłopek M, Macek P, Smok-Kalwat J, Góźdź S.
    • PLoS One. 2018 Jul 24;13(7):e0201086. doi: 10.1371/journal.pone.0201086. eCollection 2018.
    • Identification of a BRCA2 mutation in a Turkish family with early-onset breast cancer.
    • Celik E, Ermis Tekkus K, Akcay IM, Alkurt Sal G, Ezberci F, Dinler Doganay G, Doganay L.
    • Clin Case Rep. 2018 Jul 17;6(9):1751-1755. doi: 10.1002/ccr3.1625. eCollection 2018 Sep.
    • Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.
    • Chan GHJ, Ong PY, Low JJH, Kong HL, Ow SGW, Tan DSP, Lim YW, Lim SE, Lee SC.
    • Oncotarget. 2018 Jul 17;9(55):30649-30660. doi: 10.18632/oncotarget.25769. eCollection 2018 Jul 17.
    • NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) — Genetic/Familial High-Risk Assessment: Breast and Ovarian
    • Daly MB, Pilarski R, Berry M, Buys SS, Friedman S, Garber JE, Hutton ML, Kauff ND, Khan S, Klein C, Kohlmann W, Kurian A, Laronga C, Litton JK, Madlensky L, Mac JS, Merajver SD, Offit K, Pal T, Peterson HJ, Reiser G, Shannon KM, Thaker P, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Darlow S.
    • NCCN.org. 2018 Jul 11. Version 1.2019.
    • Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
    • Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer , Casey , Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium, Tischkowitz MD, Maher ER.
    • Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14.
    • Breast cancer in an 18-year-old female: A fatal case report and literature review.
    • Jóźwik M, Posmyk R, Jóźwik M, Semczuk A, Gogiel-Shields M, Kuś-Słowińska M, Garbowicz M, Klukowski M, Wojciechowicz J.
    • Cancer Biol Ther. 2018 Jul 3;19(7):543-548. doi: 10.1080/15384047.2017.1416931.
    • Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2.
    • Narod S, Sopik V, Cybulski C.
    • JAMA Oncol. 2018 Jul 1;4(7):1012. doi: 10.1001/jamaoncol.2018.0595.
    • Letter

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

    Letter, Reply:

    Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2—Reply.

    • Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women.
    • Manchanda R, Patel S, Gordeev VS, Antoniou AC, Smith S, Lee A, Hopper JL, MacInnis RJ, Turnbull C, Ramus SJ, Gayther SA, Pharoah PDP, Menon U, Jacobs I, Legood R.
    • J Natl Cancer Inst. 2018 Jul 1;110(7):714-725. doi: 10.1093/jnci/djx265.

    Editorial:

    Population Testing for High Penetrance Genes: Are We There Yet?

    Commentary:

    Population based germline testing for primary cancer prevention.

    • Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations.
    • Singh J, Thota N, Singh S, Padhi S, Mohan P, Deshwal S, Sur S, Ghosh M, Agarwal A, Sarin R, Ahmed R, Almel S, Chakraborti B, Raina V, DadiReddy PK, Smruti BK, Rajappa S, Dodagoudar C, Aggarwal S, Singhal M, Joshi A, Kumar R, Kumar A, Mishra DK, Arora N, Karaba A, Sankaran S, Katragadda S, Ghosh A, Veeramachaneni V, Hariharan R, Mannan AU.
    • Breast Cancer Res Treat. 2018 Jul;170(1):189-196. doi: 10.1007/s10549-018-4726-x. Epub 2018 Feb 22.
    • Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2.
    • Eoh KJ, Kim JE, Park HS, Lee ST, Park JS, Han JW, Lee JY, Kim S, Kim SW, Kim JH, Kim YT, Nam EJ.
    • Cancer Res Treat. 2018 Jul;50(3):917-925. doi: 10.4143/crt.2017.220. Epub 2017 Sep 27.
    • Increased access to TP53 analysis through breast cancer multi-gene panels: clinical considerations.
    • Azzollini J, Mariani M, Peissel B, Manoukian S.
    • Fam Cancer. 2018 Jul;17(3):317-319. doi: 10.1007/s10689-017-0020-z.

    Next generation sequencing is informing phenotype: a TP53 example.

    • Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine.
    • Myszka A, Nguyen-Dumont T, Karpinski P, Sasiadek MM, Akopyan H, Hammet F, Tsimiklis H, Park DJ, Pope BJ, Slezak R, Kitsera N, Siekierzynska A, Southey MC.
    • Fam Cancer. 2018 Jul;17(3):345-349. doi: 10.1007/s10689-017-0050-6.
    • Heterogeneity and Uncertainties Specific to Genome-Based Health Technological Assessments.
    • Petelin L, Liew D, Mitchell G, James PA, Trainer AH.
    • Value Health. 2018 Jul;21(7):891-893. doi: 10.1016/j.jval.2018.02.009. Epub 2018 May 16.
    • Letter

    A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer.

    Letter:

    A multigene test could cost-effectively help extend life expectancy for women at risk of hereditary breast cancer-Reply to letter to the editor by Petelin et al.

    • A multigene test could cost-effectively help extend life expectancy for women at risk of hereditary breast cancer-Reply to letter to the editor by Petelin et al.
    • Li Y, Devlin JJ.
    • Value Health. 2018 Jul;21(7):893-894. doi: 10.1016/j.jval.2018.02.010. Epub 2018 Apr 5.
    • Letter

    Letter:

    Heterogeneity and Uncertainties Specific to Genome-Based Health Technological Assessments.

    Original Research:

    A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer.

    • Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations.
    • [No author given]
    • FORCE. XRAYS. 2018 Jun 28.

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

    • Pancreatic cancer as a sentinel for hereditary cancer predisposition.
    • Young EL, Thompson BA, Neklason DW, Firpo MA, Werner T, Bell R, Berger J, Fraser A, Gammon A, Koptiuch C, Kohlmann WK, Neumayer L, Goldgar DE, Mulvihill SJ, Cannon-Albright LA, Tavtigian SV.
    • BMC Cancer. 2018 Jun 27;18(1):697. doi: 10.1186/s12885-018-4573-5.
    • Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
    • Hu C, Hart SN, Polley EC, Gnanaolivu R, Shimelis H, Lee KY, Lilyquist J, Na J, Moore R, Antwi SO, Bamlet WR, Chaffee KG, DiCarlo J, Wu Z, Samara R, Kasi PM, McWilliams RR, Petersen GM, Couch FJ.
    • JAMA. 2018 Jun 19;319(23):2401-2409. doi: 10.1001/jama.2018.6228.

    Editorial:

    Germline Genetic Testing for Pancreatic Ductal Adenocarcinoma at Time of Diagnosis.

    Press: Genetic Testing in Relatives of Pancreatic Cancer Patients? (Medscape Oncology)

    Press: Six Germline Mutations Uncovered of Increased Pancreatic Cancer Risk. (Clinical Omics)

    • Exome sequencing and case-control analyses identify RCC1 as a candidate breast cancer susceptibility gene.
    • Riahi A, Radmanesh H, Schürmann P, Bogdanova N, Geffers R, Meddeb R, Kharrat M, Dörk T.
    • Int J Cancer. 2018 Jun 15;142(12):2512-2517. doi: 10.1002/ijc.31273. Epub 2018 Feb 5.
    • The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing.
    • Mahamdallie S, Ruark E, Holt E, Poyastro-Pearson E, Renwick A, Strydom A, Seal S, Rahman N.
    • Wellcome Open Res. 2018 Jun 12;3:68. doi: 10.12688/wellcomeopenres.14594.1. eCollection 2018.
    • [Chinese consensus on next generation sequencing-based BRCA testing].
    • Working group of Chinese consensus on next generation sequencing-based BRCA testing.
    • Zhonghua Bing Li Xue Za Zhi. 2018 Jun 8;47(6):401-406. doi: 10.3760/cma.j.issn.0529-5807.2018.06.003.
    • [Article in Chinese]
    • XRAYS Follow Up: Does expanded genetic testing benefit Jewish women with breast cancer?
    • [No author given]
    • FORCE. XRAYS. 2018 Jun 7.

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

    Research review, Commentary: Does expanded genetic testing benefit Jewish women diagnosed with breast cancer? (FORCE. XRAYS. 2017 Sep 13.)

    • High frequency of pathogenic non-founder germline mutations in BRCA1 and BRCA2 in families with breast and ovarian cancer in a founder population.
    • Maksimenko J, Irmejs A, Trofimovičs G, Bērziņa D, Skuja E, Purkalne G, Miklaševičs E, Gardovskis J.
    • Hered Cancer Clin Pract. 2018 Jun 5;16:12. doi: 10.1186/s13053-018-0094-0. eCollection 2018.
    • Mutations in Known and Novel cancer Susceptibility Genes in Young Patients with Pancreatic Cancer.
    • Alimirzaie S, Mohamadkhani A, Masoudi S, Sellars E, Boffetta P, Malekzadeh R, Akbari MR, Pourshams A.
    • Arch Iran Med. 2018 Jun 1;21(6):228-233.
    • Contralateral prophylactic mastectomy rate and predictive factors among patients with breast cancer who underwent multigene panel testing for hereditary cancer.
    • Elsayegh N, Webster RD, Gutierrez Barrera AM, Lin H, Kuerer HM, Litton JK, Bedrosian I, Arun BK.
    • Cancer Med. 2018 Jun;7(6):2718-2726. doi: 10.1002/cam4.1519. Epub 2018 May 7.
    • Cancer gene-panel testing identifies two loss-of-function alleles in PALB2 and PTEN.
    • Avgerinou C, Fostira F, Economopoulou P, Psyrri A.
    • Clin Genet. 2018 Jun;93(6):1250-1251. doi: 10.1111/cge.13138. Epub 2018 Feb 11.
    • Letter, Case report
    • Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain).
    • Sánchez-Bermúdez AI, Sarabia-Meseguer MD, García-Aliaga Á, Marín-Vera M, Macías-Cerrolaza JA, Henaréjos PS, Guardiola-Castillo V, Peña FA, Alonso-Romero JL, Noguera-Velasco JA, Ruiz-Espejo F.
    • Eur J Med Genet. 2018 Jun;61(6):355-361. doi: 10.1016/j.ejmg.2018.01.015. Epub 2018 Feb 2.
    • Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group.
    • Taylor A, Brady AF, Frayling IM, Hanson H, Tischkowitz M, Turnbull C, Side L; UK Cancer Genetics Group (UK-CGG).
    • J Med Genet. 2018 Jun;55(6):372-377. doi: 10.1136/jmedgenet-2017-105188. Epub 2018 Apr 16.
    • Effects of Cancer Genetic Panel Testing on at-Risk Individuals.
    • Frost AS, Toaff M, Biagi T, Stark E, McHenry A, Kaltman R.
    • Obstet Gynecol. 2018 Jun;131(6):1103-1110. doi: 10.1097/AOG.0000000000002531.
    • Breast Cancer Family History and Contralateral Breast Cancer Risk in Young Women: An Update From the Women's Environmental Cancer and Radiation Epidemiology Study.
    • Reiner AS, Sisti J, John EM, Lynch CF, Brooks JD, Mellemkjær L, Boice JD, Knight JA, Concannon P, Capanu M, Tischkowitz M, Robson M, Liang X, Woods M, Conti DV, Duggan D, Shore R, Stram DO, Thomas DC, Malone KE, Bernstein L; WECARE Study Collaborative Group, Bernstein JL.
    • J Clin Oncol. 2018 May 20;36(15):1513-1520. doi: 10.1200/JCO.2017.77.3424. Epub 2018 Apr 5.
    • Genetics of breast cancer in African populations: a literature review.
    • Abbad A, Baba H, Dehbi H, Elmessaoudi-Idrissi M, Elyazghi Z, Abidi O, Radouani F.
    • Glob Health Epidemiol Genom. 2018 May 11;3:e8. doi: 10.1017/gheg.2018.8. eCollection 2018.
    • Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.
    • Torrezan GT, de Almeida FGDSR, Figueiredo MCP, Barros BDF, de Paula CAA, Valieris R, de Souza JES, Ramalho RF, da Silva FCC, Ferreira EN, de Nóbrega AF, Felicio PS, Achatz MI, de Souza SJ, Palmero EI, Carraro DM.
    • Front Genet. 2018 May 7;9:161. doi: 10.3389/fgene.2018.00161. eCollection 2018.
    • Germline deleterious mutations in genes other than BRCA2 are infrequent in male breast cancer.
    • Fostira F, Saloustros E, Apostolou P, Vagena A, Kalfakakou D, Mauri D, Tryfonopoulos D, Georgoulias V, Yannoukakos D, Fountzilas G, Konstantopoulou I.
    • Breast Cancer Res Treat. 2018 May;169(1):105-113. doi: 10.1007/s10549-018-4661-x. Epub 2018 Jan 15.
    • A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis.
    • Concolino P, Rizza R, Mignone F, Costella A, Guarino D, Carboni I, Capoluongo E, Santonocito C, Urbani A, Minucci A.
    • Clin Chim Acta. 2018 May;480:173-179. doi: 10.1016/j.cca.2018.02.012. Epub 2018 Feb 16.
    • Risk, Prediction and Prevention of Hereditary Breast Cancer - Large-Scale Genomic Studies in Times of Big and Smart Data.
    • Wunderle M, Olmes G, Nabieva N, Häberle L, Jud SM, Hein A, Rauh C, Hack CC, Erber R, Ekici AB, Hoyer J, Vasileiou G, Kraus C, Reis A, Hartmann A, Schulz-Wendtland R, Lux MP, Beckmann MW, Fasching PA.
    • Geburtshilfe Frauenheilkd. 2018 May;78(5):481-492. doi: 10.1055/a-0603-4350. Epub 2018 Jun 4.
    • Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.
    • Buchanan AH, Manickam K, Meyer MN, Wagner JK, Hallquist MLG, Williams JL, Rahm AK, Williams MS, Chen ZE, Shah CK, Garg TK, Lazzeri AL, Schwartz MLB, Lindbuchler DM, Fan AL, Leeming R, Servano PO 3rd, Smith AL, Vogel VG, Abul-Husn NS, Dewey FE, Lebo MS, Mason-Suares HM, Ritchie MD, Davis FD, Carey DJ, Feinberg DT, Faucett WA, Ledbetter DH, Murray MF.
    • Genet Med. [2018 May;]20(5):554-558. doi: 10.1038/gim.2017.145. Epub 2017 Oct 26.
    • Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
    • Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, Leslie G, Aalfs CM, Abugattas J, Adlard J, Agata S, Aittomäki K, Andrews L, Andrulis IL, Arason A, Arnold N, Arun BK, Asseryanis E, Auerbach L, Azzollini J, Balmaña J, Barile M, Barkardottir RB, Barrowdale D, Benitez J, Berger A, Berger R, Blanco AM, Blazer KR, Blok MJ, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campbell I, Caputo SM, Chiquette J, Chung WK, Claes KBM, Collée JM, Cook J, Davidson R, de la Hoya M, De Leeneer K, de Pauw A, Delnatte C, Diez O, Ding YC, Ditsch N, Domchek SM, Dorfling CM, Velazquez C, Dworniczak B, Eason J, Easton DF, Eeles R, Ehrencrona H, Ejlertsen B; EMBRACE, Engel C, Engert S, Evans DG, Faivre L, Feliubadaló L, Ferrer SF, Foretova L, Fowler J, Frost D, Galvão HCR, Ganz PA, Garber J, Gauthier-Villars M, Gehrig A; GEMO Study Collaborators, Gerdes AM, Gesta P, Giannini G, Giraud S, Glendon G, Godwin AK, Greene MH, Gronwald J, Gutierrez-Barrera A, Hahnen E, Hauke J; HEBON, Henderson A, Hentschel J, Hogervorst FBL, Honisch E, Imyanitov EN, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Vijai J, Kaczmarek K, Karlan BY, Kast K, Investigators K, Kim SW, Konstantopoulou I, Korach J, Laitman Y, Lasa A, Lasset C, Lázaro C, Lee A, Lee MH, Lester J, Lesueur F, Liljegren A, Lindor NM, Longy M, Loud JT, Lu KH, Lubinski J, Machackova E, Manoukian S, Mari V, Martínez-Bouzas C, Matrai Z, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Mensenkamp AR, Mickys U, Miller A, Montagna M, Moysich KB, Mulligan AM, Musinsky J, Neuhausen SL, Nevanlinna H, Ngeow J, Nguyen HP, Niederacher D, Nielsen HR, Nielsen FC, Nussbaum RL, Offit K, Öfverholm A, Ong KR, Osorio A, Papi L, Papp J, Pasini B, Pedersen IS, Peixoto A, Peruga N, Peterlongo P, Pohl E, Pradhan N, Prajzendanc K, Prieur F, Pujol P, Radice P, Ramus SJ, Rantala J, Rashid MU, Rhiem K, Robson M, Rodriguez GC, Rogers MT, Rudaitis V, Schmidt AY, Schmutzler RK, Senter L, Shah PD, Sharma P, Side LE, Simard J, Singer CF, Skytte AB, Slavin TP, Snape K, Sobol H, Southey M, Steele L, Steinemann D, Sukiennicki G, Sutter C, Szabo CI, Tan YY, Teixeira MR, Terry MB, Teulé A, Thomas A, Thull DL, Tischkowitz M, Tognazzo S, Toland AE, Topka S, Trainer AH, Tung N, van Asperen CJ, van der Hout AH, van der Kolk LE, van der Luijt RB, Van Heetvelde M, Varesco L, Varon-Mateeva R, Vega A, Villarreal-Garza C, von Wachenfeldt A, Walker L, Wang-Gohrke S, Wappenschmidt B, Weber BHF, Yannoukakos D, Yoon SY, Zanzottera C, Zidan J, Zorn KK, Hutten Selkirk CG, Hulick PJ, Chenevix-Trench G, Spurdle AB, Antoniou AC, Nathanson KL.
    • Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.
    • Somatic BRCA1 mutations in clinically sporadic breast cancer with medullary histological features.
    • Rechsteiner M, Dedes K, Fink D, Pestalozzi B, Sobottka B, Moch H, Wild P, Varga Z.
    • J Cancer Res Clin Oncol. 2018 May;144(5):865-874. doi: 10.1007/s00432-018-2609-5. Epub 2018 Feb 17.
    • Evaluation of the relative effectiveness of the 2017 updated Manchester scoring system for predicting BRCA1/2 mutations in a Southeast Asian country.
    • Chew W, Moorakonda RB, Courtney E, Soh H, Li ST, Chen Y, Shaw T, Allen JC, Evans DGR, Ngeow J.
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    • Frequency of pathogenic germline mutations in cancer susceptibility genes in breast cancer patients.
    • Kaur RP, Shafi G, Benipal RPS, Munshi A.
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    • Challenges in recruiting African-American women for a breast cancer genetics study.
    • Compadre AJ, Simonson ME, Gray K, Runnells G, Kadlubar S, Zorn KK.
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    • Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing.
    • Liang Y, Yang X, Li H, Zhu A, Guo Z, Li M.
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    • Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy.
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    • Main implications related to the switch to BRCA1/2 tumor testing in ovarian cancer patients: a proposal of a consensus.
    • Capoluongo E, Scambia G, Nabholtz JM.
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    • Ascertainment Bias and Estimating Penetrance.
    • Sorscher S.
    • JAMA Oncol. 2018 Apr 1;4(4):587. doi: 10.1001/jamaoncol.2017.4573.

    Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer.

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    • Silvestri V, Rizzolo P, Zelli V, Valentini V, Zanna I, Bianchi S, Tibiletti MG, Varesco L, Russo A, Tommasi S, Coppa A, Capalbo C, Calistri D, Viel A, Cortesi L, Manoukian S, Bonanni B, Montagna M, Palli D, Radice P, Peterlongo P, Ottini L.
    • Breast. 2018 Apr;38:92-97. doi: 10.1016/j.breast.2017.12.013. Epub 2018 Jan 4.
    • High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.
    • Alhuqail AJ, Alzahrani A, Almubarak H, Al-Qadheeb S, Alghofaili L, Almoghrabi N, Alhussaini H, Park BH, Colak D, Karakas B.
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    Commentary:

    Attention: Direct-To-Consumer patrons: Proceed with caution.

    Research news: Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations (FORCE. XRAYS.)

    Press: Wrangle Over DTC Results—Ambry Study Highlights 40% False Positives, 23andMe Defends Tests, and Experts Weigh In. (Clinical OMICs)

    Press: Ambry and My Gene Counsel Team Up on Tests to Confirm DTC Results, Counseling. (Clinical OMICs)

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