• A de novo ERBB3 mutation resulted in Olaparib resistance after successful conversion therapy for a GBC patient bearing BRCA1 mutation.
    • Yang JX, Jia ZY, Liu FT, Wu WG, Li XC, Zou L, Li HF, Zhang F, Bao RF, Peng SY, Lau WY, Liu Y, Li ML, Liu YB.
    • Front Oncol. 2023 Feb 20;13:1078388. doi: 10.3389/fonc.2023.1078388.
    • Das familiäre Pankreaskarzinomsyndrom [Familial pancreatic cancer syndrome].
    • Seifert L, Weitz J.
    • Chirurgie (Heidelb). 2023 Feb 17. German. doi: 10.1007/s00104-023-01819-8. Epub ahead of print.
    • Review. [Article in German]
    • Updates in Gynecologic Care for Individuals with Lynch Syndrome.
    • Underkofler KA, Ring K.
    • Front Oncol. 2023 Feb 16;13:1127683. doi: 10.3389/fonc.2023.1127683.
    • Genetic susceptibility in children, adolescents, and young adults diagnosed with soft-tissue sarcomas.
    • Würtemberger J, Ripperger T, Vokuhl C, Bauer S, Teichert-von Lüttichau I, Wardelmann E, Niemeyer C, Kratz CP, Schlegelberger B, Hettmer S.
    • Eur J Med Genet. 2023 Feb 8:104718. doi: 10.1016/j.ejmg.2023.104718. Epub ahead of print.
    • Review
    • Study on TFF1 and PALB2 gene variants associated with gastric carcinoma risk in the Chinese Han population.
    • Zou W, Zhang Q, Sun R, Li X, He S.
    • Cancer Epidemiol. 2023 Feb 7;83:102333. doi: 10.1016/j.canep.2023.102333. Epub ahead of print.
    • Genetic analyses of DNA repair pathway associated genes implicates new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases.
    • Alenezi WM, Fierheller CT, Serruya C, Revil T, Oros Klein K, Subramanian DN, Bruce J, Spiegelman D, Pugh T, Campbell I, Mes-Masson AM, Provencher D, Foulkes W, El Haffaf Z, Rouleau G, Bouchard L, Greenwood CM, Ragoussis J, Tonin PN.
    • Front Oncol. 2023 Feb 6;13:1111191. doi: 10.3389/fonc.2023.1111191.
    • BRCA1/2 pathogenic variants are not common in Merkel cell carcinoma: Comprehensive molecular study of 30 cases and meta-analysis of the literature.
    • Gaubert A, Kervarrec T, Montaudié H, Burel-Vandenbos F, Cardot-Leccia N, Di Mauro I, Fabas T, Tallet A, Kubiniek V, Pedeutour F, Dadone-Montaudié B.
    • J Invest Dermatol. 2023 Feb 6:S0022-202X(23)00068-4. doi: 10.1016/j.jid.2023.01.014. Epub ahead of print.
    • Comprehensive Analysis of Germline Drivers in Endometrial Cancer.
    • Gordhandas S, Rios-Doria E, Cadoo KA, Catchings A, Maio A, Kemel Y, Sheehan M, Ranganathan M, Green D, Aryamvally A, Arnold AG, Salo-Mullen E, Manning-Geist B, Sia T, Selenica P, Da Cruz Paula A, Vanderbilt C, Misyura M, Leitao MM, Mueller JJ, Makker V, Rubinstein M, Friedman CF, Zhou Q, Iasonos A, Latham A, Carlo MI, Murciano-Goroff YR, Will M, Walsh MF, Issa Bhaloo S, Ellenson LH, Ceyhan-Birsoy O, Berger MF, Robson ME, Abu-Rustum N, Aghajanian C, Offit K, Stadler Z, Weigelt B, Mandelker DL, Liu YL.
    • J Natl Cancer Inst. 2023 Feb 6:djad016. doi: 10.1093/jnci/djad016. Epub ahead of print.
    • Utility of Comprehensive Genomic Profiling Tests for Patients with Incurable Pancreatic Cancer in Clinical Practice.
    • Yamai T, Ikezawa K, Sugimoto N, Urabe M, Kai Y, Takada R, Nakabori T, Uehara H, Kawamura T, Kunimasa K, Yamamoto S, Wakamatsu T, Hayashi T, Kukita Y, Fujisawa F, Inoue T, Yamaguchi Y, Yamasaki T, Honma K, Ohkawa K.
    • Cancers (Basel). 2023 Feb 3;15(3):970. doi: 10.3390/cancers15030970.
    • Atypical ATMs: Broadening the Phenotypic Spectrum of ATM-associated Hereditary Cancer.
    • Borja NA, Silva-Smith R, Huang M, Parekh DJ, Sussman D, Tekin M.
    • Front Oncol. 2023 Feb 3;13:1068110. doi: 10.3389/fonc.2023.1068110.
    • Novel Candidate loci and Pathogenic Germline Variants Involved in Familial Hematological Malignancies Revealed by Whole-Exome Sequencing.
    • Andrés-Zayas C, Suárez-González J, Chicano-Lavilla M, Bastos Oreiro M, Rodríguez-Macías G, Font López P, Osorio Prendes S, Oarbeascoa Royuela G, García Ramírez P, Nieves Salgado R, Gómez-Centurión I, Carbonell Muñoz D, Muñiz P, Kwon M, Díez-Martín JL, Buño I, Martínez-Laperche C.
    • Cancers (Basel). 2023 Feb 2;15(3):944. doi: 10.3390/cancers15030944.
    • Characteristics of familial pancreatic cancer families with additional colorectal carcinoma.
    • Lehman B, Matthäi E, Gercke N, Denzer UW, Figiel J, Hess T, Slater EP, Bartsch DK.
    • Fam Cancer. 2023 Jan 31. doi: 10.1007/s10689-023-00328-1. Epub ahead of print.
    • A novel cancer risk prediction score for the natural course of FA patients with biallelic BRCA2/FANCD1 mutations.
    • Radulovic I, Schündeln MM, Müller L, Ptok J, Honisch E, Niederacher D, Wiek C, Scheckenbach K, Leblanc T, Larcher L, Soulier J, Reinhardt D, Schaal H, Andreassen PR, Hanenberg H.
    • Hum Mol Genet. 2023 Jan 31:ddad017. doi: 10.1093/hmg/ddad017. Epub ahead of print.
    • Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.
    • Tavano F, Gioffreda D, Fontana A, Palmieri O, Gentile A, Latiano T, Latiano A, Latiano TP, Scaramuzzi M, Maiello E, Bazzocchi F, Perri F.
    • Mol Med. 2023 Jan 30;29(1):14. doi: 10.1186/s10020-023-00600-1.
    • Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?
    • Carrera S, Rodríguez-Martínez AB, Garin I, Sarasola E, Martínez C, Maortua H, Callejo A, Ruiz de Lobera A, Muñoz A, Miñambres N, Jiménez-Labaig P.
    • Hered Cancer Clin Pract. 2023 Jan 28;21(1):2. doi: 10.1186/s13053-023-00246-4.
    • Genetics, Genomics and Emerging Molecular Therapies of Pancreatic Cancer.
    • Liu J, Mroczek M, Mach A, Stępień M, Aplas A, Pronobis-Szczylik B, Bukowski S, Mielczarek M, Gajewska E, Topolski P, Król ZJ, Szyda J, Dobosz P.
    • Cancers (Basel). 2023 Jan 27;15(3):779. doi: 10.3390/cancers15030779.
    • Das hereditäre diffuse Magenkarzinom [Hereditary diffuse gastric cancer].
    • Knipper K, Fuchs HF, Alakus H, Bruns CJ, Schmidt T.
    • Chirurgie (Heidelb). 2023 Jan 26. German. doi: 10.1007/s00104-023-01806-z. Epub ahead of print.
    • Review. [Article in German]
    • Association of Reported Candidate Monogenic Genes With Lung Cancer Risk.
    • Rifkin AS, Less EM, Wei J, Shi Z, Zheng SL, Helfand BT, Hulick PJ, Krantz SB, Xu J.
    • Clin Lung Cancer. 2023 Jan 26:S1525-7304(23)00009-8. doi: 10.1016/j.cllc.2023.01.005. Epub ahead of print.
    • Poor response to sintilimab plus chemotherapy in a pulmonary epithelioid hemangioendothelioma patient: a case report.
    • Zeng H, Tang X, Tian X, Liu Y, Tian P.
    • Immunotherapy. 2023 Jan 25. doi: 10.2217/imt-2022-0073. Epub ahead of print.
    • Case report
    • Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management.
    • McGee RB, Oak N, Harrison L, Xu K, Nuccio R, Blake AK, Mostafavi R, Lewis S, Taylor LM, Kubal M, Ouma A, Hines-Dowell SJ, Cheng C, Furtado LV, Nichols KE.
    • Clin Cancer Res. 2023 Jan 24:ccr.22.2482. doi: 10.1158/1078-0432.CCR-22-2482. Epub ahead of print.
    • Deficient mismatch repair is detected in large-to-giant congenital melanocytic naevi: providing new insight into aetiology and diagnosis.
    • Wei B, Gu J, Gao B, Bao Y, Duan R, Li Q, Xie F.
    • Br J Dermatol. 2023 Jan 23;188(1):64-74. doi: 10.1093/bjd/ljac020.
    • Utility of RNA testing in individuals at increased risk for hereditary or familial pancreatic cancer. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
    • Dudley B, Karloski E, Millard C, Carraway C, Hoang L, Karam R, Everett J, Brand R.
    • Fam Cancer. [O-08: Research Categories» Pancreatic cancer-related syndromes.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
    • Conference abstract
    • Importance of timely genetics services and critical evaluation of diagnosis and reported family history when assessing for hereditary cancer syndromes. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
    • Malca S.
    • Fam Cancer. [P-08: Case Reports» Case Series on any topic.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
    • Conference abstract, Case report
    • Decreased time from diagnosis to referral of PDAC patients: a quality improvement effort. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
    • Cohen SA, Doran W, Harshbarger C, Nixon DM, Lichtenberg E, Cantafio A.
    • Fam Cancer. [P-24: Research Categories» Delivery of Care and Alternative Models.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
    • Conference abstract
    • Case Report: Clinical benefit from multi-target tyrosine kinase inhibitor and PARP inhibitor in a patient with cancer of unknown primary with BRCA1 large genomic rearrangement.
    • Yu L, Lin J, Li H, Sun L, Wang S, Chen Y, Chen H, Lin L.
    • Front Pharmacol. 2023 Jan 23;14:997760. doi: 10.3389/fphar.2023.997760.
    • Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.
    • Fierheller CT, Alenezi WM, Serruya C, Revil T, Amuzu S, Bedard K, Subramanian DN, Fewings E, Bruce JP, Prokopec S, Bouchard L, Provencher D, Foulkes WD, El Haffaf Z, Mes-Masson AM, Tischkowitz M, Campbell IG, Pugh TJ, Greenwood CMT, Ragoussis J, Tonin PN.
    • Genes (Basel). 2023 Jan 20;14(2):277. doi: 10.3390/genes14020277.
    • Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.
    • Han S, Camp SY, Chu H, Collins R, Gillani R, Park J, Bakouny Z, Ricker CA, Reardon B, Moore N, Kofman E, Labaki C, Braun D, Choueiri TK, AlDubayan SH, Van Allen EM.
    • medRxiv [Preprint]. 2023 Jan 19:2023.01.18.23284664. doi: 10.1101/2023.01.18.23284664.
    • PARP inhibition utilized in combination therapy with Olaparib-Temozolomide to achieve disease stabilization in a rare case of BRCA1-mutant, metastatic myxopapillary ependymoma.
    • Mahalingam P, Smith S, Lopez J, Sharma RK, Millard T, Thway K, Fisher C, Reardon DA, Jones R, Nicholson AG, Cunningham D, Welsh L, Sharma B.
    • Rare Tumors. 2023 Jan 19;15:20363613231152333. doi: 10.1177/20363613231152333.
    • Identification of a large intra-exonic deletion in BRCA2 exon 18 in a pancreatic ductal adenocarcinoma.
    • Debbabi I, Vacher S, Neuzillet C, Cros J, Revillon F, Petitalot A, Turpin A, Antonio S, Girard E, Dupain C, Kamal M, Hammel P, Bièche I, Masliah-Planchon J, Caputo SM.
    • Ther Adv Med Oncol. 2023 Jan 18;15:17588359221146132. doi: 10.1177/17588359221146132.
    • Actionable genomic landscapes from a real-world cohort of urothelial carcinoma patients.
    • Gerald T, Margulis V, Meng X, Bagrodia A, Cole S, Qin Q, Call SG, Mauer E, Lotan Y, Woldu SL.
    • Urol Oncol. 2023 Jan 16:S1078-1439(22)00493-8. doi: 10.1016/j.urolonc.2022.12.008. Epub ahead of print.
    • The expression and mutation of BRCA1/2 genes in ovarian cancer: a global systematic study.
    • Chu DT, Vu Ngoc Suong M, Vu Thi H, Vu TD, Nguyen MH, Singh V.
    • Expert Rev Mol Diagn. 2023 Jan 12. doi: 10.1080/14737159.2023.2168190. Epub ahead of print.
    • Review
    • Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study.
    • Zhang C, Zhu D, Qu Y, Shi M, Ma J, Peng Y, Zhu B, Tao H, Ma T, Hou T.
    • J Med Genet. 2023 Jan 10:jmg-2022-108816. doi: 10.1136/jmg-2022-108816. Epub ahead of print.
    • Case report: Clinical features and prognosis of two Infants with rhabdomyosarcoma of the tongue.
    • Yang P, Xu N, Su Y, Duan C, Wang S, Fu L, Yu T, Guo R, Ma X.
    • Front Oncol. 2023 Jan 4;12:934882. doi: 10.3389/fonc.2022.934882.
    • Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations.
    • Mandelker D, Marra A, Mehta N, Selenica P, Yelskaya Z, Yang C, Somar J, Mehine M, Misyura M, Basturk O, Latham A, Carlo M, Walsh M, Stadler ZK, Offit K, Bandlamudi C, Hameed M, Chi P, Reis-Filho JS, Ceyhan-Birsoy O.
    • NPJ Precis Oncol. 2023 Jan 2;7(1):1. doi: 10.1038/s41698-022-00342-z.
    • Genetic, Surgical and Oncological Approach to Breast Cancer, with BRCA1, BRCA2, CDH1, PALB2, PTEN and TP53 Variants.
    • Subaşıoğlu A, Güç ZG, Gür EÖ, Tekindal MA, Atahan MK.
    • Eur J Breast Health. 2023 Jan 1;19(1):55-69. doi: 10.4274/ejbh.galenos.2022.2022-7-2.
    • Rare presentations can suggest more than one rare condition: Striking personal and family cancer history in a patient with both CDKN2A and BRCA1 pathogenic variants.
    • Trupiano N, Koeppe E, Jacobs MF, Else T, Cha KB.
    • JAAD Case Rep. 2022 Nov 7 [eCollection 2023 Jan];31:42-45. doi: 10.1016/j.jdcr.2022.10.034.
    • Outcomes of Universal Point-of-Care Genetic Testing in Diverse Patients With Pancreatic Ductal Adenocarcinoma.
    • Drogan CM, Kindler HL, Gao G, Kupfer SS.
    • JCO Precis Oncol. 2023 Jan;7:e2200196. doi: 10.1200/PO.22.00196.
    • Validation of multi-gene panel next-generation sequencing for the detection of BRCA mutation in formalin-fixed, paraffin-embedded epithelial ovarian cancer tissues.
    • Kim ET, Jeong HE, Yoon HJ, Kim KH, Suh DS.
    • Taiwan J Obstet Gynecol. 2023 Jan;62(1):66-70. doi: 10.1016/j.tjog.2022.07.010.
    • Frequency of serous tubal intraepithelial carcinoma (STIC) in patients with high grade serous ovarian cancer.
    • Byun JM, Cho HJ, Lee DS, Yoon HK, Kim YN, Im DH, Kim DH, Lee KB, Sung MS, Jeong DH.
    • Taiwan J Obstet Gynecol. 2023 Jan;62(1):107-111. doi: 10.1016/j.tjog.2022.09.006.
    • Ovarian cancer onset across different BRCA mutation types: a view to a more tailored approach for BRCA mutated patients.
    • Marchetti C, Ataseven B, Cassani C, Sassu CM, Congedo L, D'Indinosante M, Cappuccio S, Rhiem K, Hahnen E, Lucci Cordisco E, Arbustini E, Harter P, Minucci A, Scambia G, Fagotti A.
    • Int J Gynecol Cancer. 2022 Dec 29:ijgc-2022-003893. doi: 10.1136/ijgc-2022-003893. Epub ahead of print.
    • The therapeutic relevance of a BRCA2 mutation in a patient with recurrent thymoma: a case report.
    • Sigurdson S, Marom EM, Rimner A, Shepherd A, Szolkowska M, Roden AC, Marino M, Tomiyama N, Ball D, Falkson C, Rajan A.
    • Mediastinum. 2022 Dec 25;6:40. doi: 10.21037/med-22-9.
    • Inherited mutations in Chinese patients with upper tract urothelial carcinoma.
    • Wu J, Jin S, Gu C, Wei Y, Zhu Y, Necchi A, Shariat SF, Pan J, Gan H, Dai B, Zhang H, Shi G, Zhu Y, Shen Y, Zhu Y, Ye D.
    • Cell Rep Med. 2022 Dec 23:100883. doi: 10.1016/j.xcrm.2022.100883. Epub ahead of print.
    • Genetic testing women with newly diagnosed breast cancer: What criteria are the most predictive of a positive test?
    • Metcalfe KA, Narod SA, Eisen A, Poll A, Zamani N, McCready D, Cil TD, Wright FC, Lerner-Ellis J, McCuaig J, Graham T, Sun P, Akbari MR.
    • Cancer Med. 2022 Dec 21. doi: 10.1002/cam4.5515. Epub ahead of print.
    • Penetrance of Gastric Adenocarcinoma Susceptibility Genes: A Systematic Review.
    • Hosseini S, Acar A, Sen M, Meeder K, Singh P, Yin K, Sutton JM, Hughes K.
    • Ann Surg Oncol. 2022 Dec 17. doi: 10.1245/s10434-022-12829-x. Epub ahead of print.
    • Review
    • Clinical Impact of Next-Generation Sequencing Multi-Gene Panel Highlighting the Landscape of Germline Alterations in Ovarian Cancer Patients.
    • Gurioli G, Tedaldi G, Farolfi A, Petracci E, Casanova C, Comerci G, Danesi R, Arcangeli V, Ravegnani M, Calistri D, Zampiga V, Cangini I, Fonzi E, Virga A, Tassinari D, Rosati M, Ulivi P, De Giorgi U.
    • Int J Mol Sci. 2022 Dec 13;23(24):15789. doi: 10.3390/ijms232415789.
    • Case report: Olaparib as an experimental therapy in a BRCA2-mutated patient with metastatic ovarian adenocarcinoma that originated from liver cancer.
    • Li C, Ye W, Zhou W, Ye Z, Yang W, Cheng Z.
    • Front Oncol. 2022 Dec 12;12:1010158. doi: 10.3389/fonc.2022.1010158.
    • Malignant Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus as Part of the Hereditary Cancer Syndrome: A Case Diagnosed with Multiple Malignancies.
    • Caliskan S, Akar OS, Gun S, Kefeli M.
    • Turk Patoloji Derg. 2022 Dec 11. English. doi: 10.5146/tjpath.2022.01592. Epub ahead of print.
    • RE: Heterozygous BRCA1/BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.
    • Evans DG, Woodward ER.
    • J Natl Cancer Inst. 2022 Dec 10:djac223. doi: 10.1093/jnci/djac223. Epub ahead of print.

    •• Letter, Reply:

    Reply to Evans and Woodward.

    •• Original research:

    Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.

    • Genetic medicine in companion diagnostics of germline BRCA testing of Japanese pancreatic cancer patients.
    • Matsubayashi H, Todaka A, Kawakami T, Hamauchi S, Yokota T, Higashigawa S, Kiyozumi Y, Harada R, Kado N, Nishimura S, Ishiwatari H, Sato J, Niiya F, Ono H, Sugiura T, Sasaki K, Yasui H, Yamazaki K.
    • J Hum Genet. 2022 Dec 8. doi: 10.1038/s10038-022-01097-y. Epub ahead of print.
    • Germline BRCA2 variants in advanced pancreatic acinar cell carcinoma: A case report and review of literature.
    • Lee CL, Holter S, Borgida A, Dodd A, Ramotar S, Grant R, Wasson K, Elimova E, Jang RW, Moore M, Kim TK, Khalili K, Moulton CA, Gallinger S, O'Kane GM, Knox JJ.
    • World J Gastroenterol. 2022 Dec 7;28(45):6421-6432. doi: 10.3748/wjg.v28.i45.6421.
    • Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
    • Bonfiglio F, Lasorsa VA, Cantalupo S, D'Alterio G, Aievola V, Boccia A, Ardito M, Furini S, Renieri A, Morini M, Stainczyk S, Westermann F, Paolella G, Eva A, Iolascon A, Capasso M.
    • EBioMedicine. 2022 Dec 6;87:104395. doi: 10.1016/j.ebiom.2022.104395. Epub ahead of print.
    • Metastatic colorectal cancer as the primary phenotype in a hereditary breast and ovarian cancer patient with Germline BRCA1 mutation: a case report.
    • Liu Y, Zhu J, Wei X, Yang D, Li S, Qian X, Li L.
    • J Ovarian Res. 2022 Dec 3;15(1):127. doi: 10.1186/s13048-022-01069-y.
    • NGS-based targeted gene mutational profiles in Korean patients with pancreatic cancer.
    • Jung K, Lee S, Na HY, Kim JW, Lee JC, Hwang JH, Kim JW, Kim J.
    • Sci Rep. 2022 Dec 3;12(1):20937. doi: 10.1038/s41598-022-24732-2.
    • Gastric Cancer Risk and Pathogenesis in BRCA1 and BRCA2 Carriers.
    • Buckley KH, Niccum BA, Maxwell KN, Katona BW.
    • Cancers (Basel). 2022 Dec 1;14(23):5953. doi: 10.3390/cancers14235953.
    • Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.
    • Liu ZX, Zhang XL, Zhao Q, Chen Y, Sheng H, He CY, Sun YT, Lai MY, Wu MQ, Zuo ZX, Wang W, Zhou ZW, Wang FH, Li YH, Xu RH, Qiu MZ.
    • JAMA Netw Open. 2022 Dec 1;5(12):e2245836. doi: 10.1001/jamanetworkopen.2022.45836.
    • The genomic and immune landscape of long-term survivors of high-grade serous ovarian cancer.
    • Garsed DW, Pandey A, Fereday S, Kennedy CJ, Takahashi K, Alsop K, Hamilton PT, Hendley J, Chiew YE, Traficante N, Provan P, Ariyaratne D, Au-Yeung G, Bateman NW, Bowes L, Brand A, Christie EL, Cunningham JM, Friedlander M, Grout B, Harnett P, Hung J, McCauley B, McNally O, Piskorz AM, Saner FAM, Vierkant RA, Wang C, Winham SJ, Pharoah PDP, Brenton JD, Conrads TP, Maxwell GL, Ramus SJ, Pearce CL, Pike MC, Nelson BH, Goode EL, DeFazio A, Bowtell DDL.
    • Nat Genet. 2022 Dec 1:1-9. doi: 10.1038/s41588-022-01230-9. Epub ahead of print.

    •• Research news: Study Unearths Features Found in Long-Term Survivors of Advanced Ovarian Cancer. (GenomeWeb)

    • Germline pathogenic variants associated with ovarian cancer: A historical overview.
    • Johansen EL, Thusgaard CF, Thomassen M, Boonen SE, Jochumsen KM.
    • Gynecol Oncol Rep. 2022 Nov 8 [eCollection 2022 Dec];44:101105. doi: 10.1016/j.gore.2022.101105.
    • Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A review and novel case with dual germline SMARCA4 and BRCA2 mutations.
    • Sanders BE, Wolsky R, Doughty ES, Wells KL, Ghosh D, Ku L, Pressey JG, Bitler BB, Brubaker LW.
    • Gynecol Oncol Rep. 2022 Oct 6 [eCollection 2022 Dec];44:101077. doi: 10.1016/j.gore.2022.101077.
    • CHEK2 Pathogenic Germline Variants in Patients With NSCLC.
    • Sorscher S.
    • JTO Clin Res Rep. 2022 Nov 19 [eCollection 2022 Dec];3(12):100439. doi: 10.1016/j.jtocrr.2022.100439.

    •• Original research:

    A High Percentage of NSCLC With Germline CHEK2 Mutation Harbors Actionable Driver Alterations: Survey of a Cancer Genomic Database and Review of Literature.

    • The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.
    • Yang Y, Zhang G, Hu C, Luo W, Jiang H, Liu S, Yang H.
    • BMC Urol. 2022 Nov 30;22(1):196. doi: 10.1186/s12894-022-01141-1.
    • Referral, Genetic Counselling, and BRCA Testing in the Manitoba High-Grade Serous Ovarian Cancer Population, 2004–2019.
    • Winchar K, Lambert P, McManus KJ, Chodirker B, Kean S, Serfas K, Decker K, Nachtigal MW, Altman AD.
    • Curr Oncol. 2022 Nov 30;29(12):9365-9376. doi: 10.3390/curroncol29120735.
    • Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
    • Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novakovic S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C.
    • Lancet Oncol. 2022 Nov 24:S1470-2045(22)00643-X. doi: 10.1016/S1470-2045(22)00643-X. Epub ahead of print.
    • Long-term response to olaparib in a patient with metastatic pancreatic cancer associated with hereditary breast and ovarian cancer syndrome.
    • Tsuneizumi M, Terada S, Usui T, Yamaguchi K, Hayami R, Matsunuma R.
    • Oxf Med Case Reports. 2022 Nov 24;2022(11):omac124. doi: 10.1093/omcr/omac124.
    • Reversion mutations in germline BRCA1/2-mutant tumors reveal a BRCA-mediated phenotype in non-canonical histologies.
    • Murciano-Goroff YR, Schram AM, Rosen EY, Won H, Gong Y, Noronha AM, Janjigian YY, Stadler ZK, Chang JC, Yang SR, Mandelker D, Offit K, Berger MF, Donoghue MTA, Bandlamudi C, Drilon A.
    • Nat Commun. 2022 Nov 23;13(1):7182. doi: 10.1038/s41467-022-34109-8.
    • UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
    • Hanson H, Kulkarni A, Loong L, Kavanaugh G, Torr B, Allen S, Ahmed M, Antoniou AC, Cleaver R, Dabir T, Evans DG, Golightly E, Jewell R, Kohut K, Manchanda R, Murray A, Murray J, Ong KR, Rosenthal AN, Woodward ER, Eccles DM, Turnbull C, Tischkowitz M; Consensus meeting attendees, Lalloo F.
    • J Med Genet. 2022 Nov 21:jmg-2022-108898. doi: 10.1136/jmg-2022-108898. Epub ahead of print.
    • Olaparib as an Experimental Therapy in a BRCA2-mutated Patient with Metastatic Ovarian Adenocarcinoma Originated from Liver Cancer.
    • Li C, Ye W, Zhou W, Ye Z, Yang W, Cheng Z.
    • Front Oncol. 2022 Nov 18;12:1010158. doi: 10.3389/fonc.2022.1010158.
    • Pancreatic Tumorigenesis: Precursors, Genetic Risk Factors and Screening.
    • Badheeb M, Abdelrahim A, Esmail A, Umoru G, Abboud K, Al-Najjar E, Rasheed G, Alkhulaifawin M, Abudayyeh A, Abdelrahim M.
    • Curr Oncol. 2022 Nov 15;29(11):8693-8719. doi: 10.3390/curroncol29110686.
    • Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.
    • Kratz CP, Smirnov D, Autry R, Jäger N, Waszak SM, Großhennig A, Berutti R, Wendorff M, Hainaut P, Pfister SM, Prokisch H, Ripperger T, Malkin D.
    • J Natl Cancer Inst. 2022 Nov 14;114(11):1523-1532. doi: 10.1093/jnci/djac151.

    •• Letter, Commentary:

    RE: Heterozygous BRCA1/BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.

    •• Letter, Reply:

    Reply to Evans and Woodward.

    • The Genetics of Pancreatic Cancer
    • [No author given]
    • My Gene Counsel. Genetic Journal. 2022 Nov 14.
    • Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Among Patients With Colorectal Cancer.
    • Coughlin SE, Heald B, Clark DF, Nielsen SM, Hatchell KE, Esplin ED, Katona BW.
    • JCO Precis Oncol. 2022 Nov [12];6:e2200517. doi: 10.1200/PO.22.00517.
    • Comparing Characteristics of Pelvic High-grade Serous Carcinomas with and without Breast Cancer Gene Variants on MR Imaging.
    • Saida T, Shikama A, Mori K, Ishiguro T, Minaguchi T, Satoh T, Nakajima T.
    • Magn Reson Med Sci. 2022 Nov 12. doi: 10.2463/mrms.mp.2022-0061. Epub ahead of print.
    • A spectrum of BRCA1 and BRCA2 germline deleterious variants in ovarian cancer in Russia.
    • Kechin A, Boyarskikh U, Barinov A, Tanas A, Kazakova S, Zhevlova A, Khrapov E, Subbotin S, Mishukova O, Kekeeva T, Demidova I, Filipenko M.
    • Breast Cancer Res Treat. 2022 Nov 11. doi: 10.1007/s10549-022-06782-2. Epub ahead of print.
    • Prevalence and Prognostic Relevance of Homologous Recombination Repair Gene Mutations in Uterine Serous Carcinoma.
    • Dong L, Wang T, Li N, Yao H, Ying J, Wu L, Yuan G.
    • Cells. 2022 Nov 11;11(22):3563. doi: 10.3390/cells11223563.
    • Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer.
    • Holowatyj AN, Washington MK, Tavtigian SV, Eng C, Horton C.
    • JAMA Oncol. 2022 Nov 11. doi: 10.1001/jamaoncol.2022.5425. Epub ahead of print.
    • Molecular Management of High-Grade Serous Ovarian Carcinoma.
    • Punzón-Jiménez P, Lago V, Domingo S, Simón C, Mas A.
    • Int J Mol Sci. 2022 Nov 9;23(22):13777. doi: 10.3390/ijms232213777.
    • The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016–2021.
    • Roht L, Tooming M, Rekker K, Roomere H, Toome K, Murumets Ü, Šamarina U, Õunap K, Kahre T.
    • Front Genet. 2022 Nov 8;12:1020543. doi: 10.3389/fgene.2022.1020543.
    • Overview of familial syndromes with increased skin malignancies.
    • Juan HY, Zhou AE, Hoegler KM, Khachemoune A.
    • Arch Dermatol Res. 2022 Nov 7. doi: 10.1007/s00403-022-02447-8. Epub ahead of print.
    • Review
    • Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center.
    • Poliani L, Greco L, Barile M, Buono AD, Bianchi P, Basso G, Giatti V, Genuardi M, Malesci A, Laghi L; Alliance Against Cancer.
    • ESMO Open. 2022 Nov 7;7(6):100607. doi: 10.1016/j.esmoop.2022.100607. Epub ahead of print.
    • Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias.
    • Vallera RD, Ding Y, Hatanpaa KJ, Bishop JA, Mirfakhraee S, Alli AA, Tevosian SG, Tabebi M, Gimm O, Söderkvist P, Estrada-Zuniga C, Dahia PLM, Ghayee HK.
    • Front Endocrinol (Lausanne). 2022 Nov 7;13:1024108. doi: 10.3389/fendo.2022.1024108.
    • The prevalence of mismatch repair deficiency in ovarian cancer: A systematic review and meta-analysis.
    • Atwal A, Snowsill T, Dandy MC, Krum T, Newton C, Evans DG, Crosbie EJ, Ryan NAJ.
    • Int J Cancer. 2022 Nov 1;151(9):1626-1639. doi: 10.1002/ijc.34165. Epub 2022 Jul 6.
    • Cancer risks associated with heterozygous ATM loss of function and missense pathogenic variants based on multigene panel analysis.
    • Laitman Y, Nielsen SM, Bernstein-Molho R, Heald B, Hatchell KE, Esplin ED, Friedman E.
    • Breast Cancer Res Treat. 2022 Nov;196(2):355-361. doi: 10.1007/s10549-022-06723-z. Epub 2022 Sep 12.
    • A case of metastatic treatment-emergent small cell/neuroendocrine prostate cancer with BRCA2 mutation diagnosed by liver biopsy.
    • Naiki T, Naiki-Ito A, Kawai T, Komatsu H, Nishikawa R, Gonda M, Aoki M, Sugiyama Y, Tasaki Y, Yasui T.
    • IJU Case Rep. 2022 Jun 29 [eCollection 2022 Nov];5(6):431-435. doi: 10.1002/iju5.12501.

    •• Commentary:

    Editorial Comment from Dr Sekino and Dr Hinata to A case of metastatic treatment emergent small cell/neuroendocrine prostate cancer with BRCA2 mutation diagnosed by liver biopsy.

    •• Commentary:

    Editorial Comment from Dr Kato to A case of metastatic treatment-emergent small cell/neuroendocrine prostate cancer with BRCA2 mutation by liver biopsy.

    • Prostate cancer recurring as small-cell carcinoma with a BRCA2 somatic mutation.
    • Yabusaki R, Yoshimura K, Taku K, Suzuki M.
    • IJU Case Rep. 2022 Aug 12 [eCollection 2022 Nov];5(6):489-492. doi: 10.1002/iju5.12523.
    • Gene-Level Associations in Patients With and Without Pathogenic Germline Variants in CDKN2A and Pancreatic Cancer.
    • Astiazaran-Symonds E, Graham C, Kim J, Tucker MA, Ingvar C, Helgadottir H, Pastorino L, van Doorn R, Sampson JN, Zhu B, Bruno W, Queirolo P, Fornarini G, Sciallero S, Carter B, Hicks B, Hutchinson A, Jones K, Stewart DR, Chanock SJ, Freedman ND, Landi MT, Höiom V, Puig S, Gruis N, Yang XR, Ghiorzo P, Goldstein AM.
    • JCO Precis Oncol. 2022 Nov;6:e2200145. doi: 10.1200/PO.22.00145.
    • Risk of pancreatic ductal adenocarcinoma associated with carriage of BRCA1 and/or BRCA2 mutation: A systematic review and meta-analysis.
    • McGarry JL, Creavin B, Kelly ME, Gallagher TK.
    • J Surg Oncol. 2022 Nov;126(6):1028-1037. doi: 10.1002/jso.26994. Epub 2022 Jun 30.
    • Review
    • Characterization of lung cancers in patients with BRCA germline variants: A multicenter series.
    • Sanchis-Borja M, Fallet V, Fabre E, Wislez M, Culine S, Zalcman G, Spano JP, Buffet NC, Coulet F, Benusiglio PR, Cadranel J.
    • Lung Cancer. 2022 Nov;173:67-70. doi: 10.1016/j.lungcan.2022.09.002. Epub 2022 Sep 6.
    • The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients.
    • Baz M, Gondran-Teiller V, Bressac B, Cabaret O, Fievet A, Dimaria M, Goldbarg V, Colas C, Bonnet-Dupeyron MN, Tinat J, Lebrun M, Mari V, Limacher JM, Corsini C, Ginglinger E, Saurin JC, Brahimi A, Rouzier C, Giraud S, Schuster H, Hollebecque A, Boige V, Cauchin E, Malka D, Caron O, Rouleau E.
    • Dig Dis Sci. 2022 Oct 31. doi: 10.1007/s10620-022-07733-z. Epub ahead of print.
    • Germline and somatic variants in ovarian carcinoma: a next-generation sequencing (NGS) analysis.
    • Andrikopoulou A, Zografos E, Apostolidou K, Kyriazoglou T, Papatheodoridi AM, Kaparelou M, Koutsoukos K, Liontos M, Dimopoulos M, Zagouri F.
    • Front Oncol. 2022 Oct 31;12:1030786. doi: 10.3389/fonc.2022.1030786.
    • Mitomycin C in Homologous Recombination Deficient Metastatic Pancreatic Cancer after Disease Progression on Platinum-Based Chemotherapy and Olaparib.
    • Botrus G, Roe D, Jameson GS, Serrano Uson Junior PL, Korn RL, Caldwell L, Bargenquast T, Miller M, Borazanci EH.
    • Biomedicines. 2022 Oct 26;10(11):2705. doi: 10.3390/biomedicines10112705.
    • Unusual dMMR Phenotype Locally Advanced Pancreatic Ductal Adenocarcinoma with Germline and Somatic BRCA2 Mutation in a Jehovah Witness Patient.
    • Copur MS, Tun SM, Vargas L, Merani S, Wedel W, Duckert R, Horn A, Lintel N, Herold D, Lavudi S.
    • Clin Colorectal Cancer. 2022 Oct 23:S1533-0028(22)00106-2. doi: 10.1016/j.clcc.2022.10.002. Epub ahead of print.
    • Case report
    • APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
    • Vibert R, Le Gall J, Buecher B, Mouret-Fourme E, Bataillon G, Becette V, Trabelsi-Grati O, Moncoutier V, Dehainault C, Carriere J, Schwartz M, Suybeng V, Bieche I, Colas C, Vincent-Salomon A, Stoppa-Lyonnet D, Golmard L.
    • J Med Genet. 2022 Oct 21:jmedgenet-2022-108467. doi: 10.1136/jmg-2022-108467. Epub ahead of print.
    • Case report
    • Mutational landscape of DNA damage response deficiency-related genes and its association with immune biomarkers in esophageal squamous cell carcinoma.
    • Chen G, Zhu YJ, Chen J, Miao F, Wu N, Song Y, Mao BB, Wang SZ, Xu F, Chen ZM.
    • Neoplasma. 2022 Oct 21:220721N738. doi: 10.4149/neo_2022_220721N738. Epub ahead of print.
    • MAPK Pathway Genetic Alterations Are Associated with Prolonged Overall Survival in Low-Grade Serous Ovarian Carcinoma.
    • Manning-Geist B, Gordhandas S, Liu YL, Zhou Q, Iasonos A, Da Cruz Paula A, Mandelker D, Roche KL, Zivanovic O, Maio A, Kemel Y, Chi DS, O'Cearbhaill RE, Aghajanian C, Weigelt B, Chui MH, Grisham RN.
    • Clin Cancer Res. 2022 Oct 14;28(20):4456-4465. doi: 10.1158/1078-0432.CCR-21-4183.

    Commentary:

    Taking the Road Less Traveled: Following Molecular Trail Markers.

    • An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes.
    • Breen KE, Katona BW, Catchings A, Ranganathan M, Marcell V, Latham A, Yurgelun MB, Stadler ZK.
    • Genet Med. 2022 Oct 12:S1098-3600(22)00918-2. doi: 10.1016/j.gim.2022.08.027. Epub ahead of print.
    • Hereditary cancer variants and homologous recombination deficiency in biliary tract cancer.
    • Okawa Y, Iwasaki Y, Johnson TA, Ebata N, Inai C, Endo M, Maejima K, Sasagawa S, Fujita M, Matsuda K, Murakami Y, Nakamura T, Hirano S, Momozawa Y, Nakagawa H.
    • J Hepatol. 2022 Oct 12:S0168-8278(22)03137-3. doi: 10.1016/j.jhep.2022.09.025. Epub ahead of print.
    • Analyses of rare predisposing variants of lung cancer in 6,004 whole genomes in Chinese.
    • Wang C, Dai J, Qin N, Fan J, Ma H, Chen C, An M, Zhang J, Yan C, Gu Y, Xie Y, He Y, Jiang Y, Zhu M, Song C, Jiang T, Liu J, Zhou J, Wang N, Hua T, Liang S, Wang L, Xu J, Yin R, Chen L, Xu L, Jin G, Lin D, Hu Z, Shen H.
    • Cancer Cell. 2022 Oct 10;40(10):1223-1239.e6. doi: 10.1016/j.ccell.2022.08.013. Epub 2022 Sep 15.

    Commentary:

    Whole-genome sequencing of East Asian lung cancers reveals new germline pathogenic variants.

    • Rare germline deleterious variants increase susceptibility for lung cancer.
    • Sang J, Zhang T, Kim J, Li M, Pesatori AC, Consonni D, Song L, Liu J, Zhao W, Hoang PH, Campbell DS, Feng J, D'Arcy ME, Synnott N, Chen Y, Wu Z, Zhu B, Yang XR, Brown KM, Choi J, Shi J, Landi MT.
    • Hum Mol Genet. 2022 Oct 10;31(20):3558-3565. doi: 10.1093/hmg/ddac123.
    • [Molecular classification and clinicopathological features of endometrial carcinoma].
    • Li WQ, Shen Y.
    • Zhonghua Bing Li Xue Za Zhi. 2022 Oct 8;51(10):993-999. Chinese. doi: 10.3760/cma.j.cn112151-20220722-00639.
    • [Article in Chinese]
    • Germline variants in cancer-predisposing genes in pancreatic cancer patients with a family history of cancer.
    • Terashima T, Morizane C, Ushiama M, Shiba S, Takahashi H, Ikeda M, Mizuno N, Tsuji K, Yasui K, Azemoto N, Satake H, Nomura S, Yachida S, Sugano K, Furuse J.
    • Jpn J Clin Oncol. 2022 Oct 6;52(10):1105-1114. doi: 10.1093/jjco/hyac110.
    • Genodermatoses – Opportunities for Early Detection and Cancer Prevention.
    • Carley H, Kulkarni A.
    • Curr Genet Med Rep. 2022 [2022 Oct 4];10(1):1-13. doi: 10.1007/s40142-022-00203-y. Epub 2022 Oct 4.
    • Moderate-Risk Genes for Hereditary Ovarian Cancers Involved in the Homologous Recombination Repair Pathway.
    • Abe A, Imoto I, Ueki A, Nomura H, Kanao H.
    • Int J Mol Sci. 2022 Oct 4;23(19):11790. doi: 10.3390/ijms231911790.
    • Inherited Germline Cancer Susceptibility Gene Variants in Individuals with Non-Muscle-Invasive Bladder Cancer.
    • Pietzak EJ, Whiting K, Srinivasan P, Bandlamudi C, Khurram A, Joseph V, Walasek A, Bochner E, Clinton T, Almassi N, Truong H, de Jesus Escano MR, Wiseman M, Mandelker D, Kemel Y, Zhang L, Walsh MF, Cadoo KA, Coleman JA, Al-Ahmadie H, Rosenberg JE, Iyer GV, Solit DB, Ostrovnaya I, Offit K, Robson ME, Stadler ZK, Berger MF, Bajorin DF, Carlo M, Bochner BH.
    • Clin Cancer Res. 2022 Oct 3;28(19):4267-4277. doi: 10.1158/1078-0432.CCR-22-1006.
    • Building on More Than 20 Years of Progress in Pancreatic Cancer Surveillance for High-Risk Individuals.
    • Yurgelun MB.
    • J Clin Oncol. 2022 Oct 1;40(28):3230-3234. doi: 10.1200/JCO.22.01287. Epub 2022 Jul 21.

    Original research:

    The Multicenter Cancer of Pancreas Screening Study: Impact on Stage and Survival.

    Original research:

    Pancreatic Cancer Surveillance in Carriers of a Germline CDKN2A Pathogenic Variant: Yield and Outcomes of a 20-Year Prospective Follow-Up.

    • Cribado de cáncer de páncreas en la práctica clínica: es el momento de la prevención [Pancreatic cancer screening in a clinical practice setting: it is the moment of Prevention].
    • Adán-Merino L, Mora-Soler A, Zaera-De la Fuente C, Garrido-Gallego F, Crivillén-Anguita O, Ponferrada-Diaz Á.
    • Rev Gastroenterol Peru. 2022 Oct-Dec;42(4):234-241. Spanish.
    • Pancreatic mixed acinar-neuroendocrine carcinoma in a patient with a germline BRCA2 mutation: a case report.
    • Ikeda M, Miura S, Kume K, Kikuta K, Hamada S, Takikawa T, Nakagawa K, Unno M, Furukawa T, Masamune A.
    • Clin J Gastroenterol. 2022 Oct;15(5):999-1005. doi: 10.1007/s12328-022-01668-8. Epub 2022 Jul 12.
    • Case report
    • Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.
    • Heddar A, Ogur C, Da Costa S, Braham I, Billaud-Rist L, Findikli N, Beneteau C, Reynaud R, Mahmoud K, Legrand S, Marchand M, Cedrin-Durnerin I, Cantalloube A, Peigne M, Bretault M, Dagher-Hayeck B, Perol S, Droumaguet C, Cavkaytar S, Nicolas-Bonne C, Elloumi H, Khrouf M, Rougier-LeMasle C, Fradin M, Le Boette E, Luigi P, Guerrot AM, Ginglinger E, Zampa A, Fauconnier A, Auger N, Paris F, Brischoux-Boucher E, Cabrol C, Brun A, Guyon L, Berard M, Riviere A, Gruchy N, Odent S, Gilbert-Dussardier B, Isidor B, Piard J, Lambert L, Hamamah S, Guedj AM, Brac de la Perriere A, Fernandez H, Raffin-Sanson ML, Polak M, Letur H, Epelboin S, Plu-Bureau G, Wolczynski S, Hieronimus S, Aittomaki K, Catteau-Jonard S, Misrahi M.
    • EBioMedicine. 2022 Oct;84:104246. doi: 10.1016/j.ebiom.2022.104246. Epub 2022 Sep 10.
    • 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.
    • Low BRCA1 and BRCA2 Germline Mutation Rates in a French-Canadian Population with a Diagnosis of Epithelial Tubo-Ovarian Carcinoma.
    • Bernard J, Mehros W, Gregoire J, Douville P, Renaud MC, Sebastianelli A, Langlais EL, Plante M.
    • J Obstet Gynaecol Can. 2022 Oct;44(10):1047-1053. doi: 10.1016/j.jogc.2022.06.005. Epub 2022 Jun 30.
    • Clinicogenomic characteristics and synthetic lethal implications of germline homologous recombination-deficient HCC.
    • An J, Oh JH, Oh B, Oh YJ, Ju JS, Kim W, Kang HJ, Sung CO, Shim JH.
    • Hepatology. 2022 Sep 30. doi: 10.1002/hep.32812. Epub ahead of print.
    • High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer.
    • Flaum N, Crosbie EJ, Edmondson R, Woodward ER, Lalloo F, Smith MJ, Schlecht H, Evans DG.
    • Genet Med. 2022 Sep 28:S1098-3600(22)00913-3. doi: 10.1016/j.gim.2022.08.022. Epub ahead of print.
    • Alterations in Homologous Recombination-Related Genes and Distinct Platinum Response in Metastatic Triple-Negative Breast Cancers: A Subgroup Analysis of the ProfiLER-01 Trial.
    • Bonnet E, Haddad V, Quesada S, Baffert KA, Lardy-Cléaud A, Treilleux I, Pissaloux D, Attignon V, Wang Q, Buisson A, Heudel PE, Bachelot T, Dufresne A, Eberst L, Toussaint P, Bonadona V, Lasset C, Viari A, Sohier E, Paindavoine S, Combaret V, Pérol D, Ray-Coquard I, Blay JY, Trédan O.
    • J Pers Med. 2022 Sep 27;12(10):1595. doi: 10.3390/jpm12101595.
    • Differences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care-Checking CHEK2.
    • Bychkovsky BL, Agaoglu NB, Horton C, Zhou J, Yussuf A, Hemyari P, Richardson ME, Young C, LaDuca H, McGuinness DL, Scheib R, Garber JE, Rana HQ.
    • JAMA Oncol. 2022 Sep 22. doi: 10.1001/jamaoncol.2022.4071. Epub ahead of print.
    • Risk of developing a second primary cancer in male breast cancer survivors: a systematic review and meta-analysis.
    • Allen I, Hassan H, Sofianopoulou E, Eccles D, Turnbull C, Tischkowitz M, Pharoah P, Antoniou AC.
    • Br J Cancer. 2022 Sep 17. doi: 10.1038/s41416-022-01940-1. Epub ahead of print.
    • Contribution of germline PALB2 variants to an unselected and prospectively registered pancreatic cancer patient cohort in Pakistan.
    • Muhammad N, Sadaqat R, Naeemi H, Masood I, Hassan U, Ijaz B, Hanif F, Syed AA, Yusuf MA, Rashid MU.
    • HPB (Oxford). 2022 Sep 15:S1365-182X(22)01593-3. doi: 10.1016/j.hpb.2022.09.003. Epub ahead of print.
    • Mutation of breast cancer susceptibility genes increases cerebral microbleeds: A pilot study.
    • Pope B, Wolcott Z, Castillo M, Jin J, Wong KH, Havenon A, Yaghi S, Goldstein ED.
    • J Stroke Cerebrovasc Dis. 2022 Sep 15;31(11):106729. doi: 10.1016/j.jstrokecerebrovasdis.2022.106729. Epub ahead of print.
    • 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.
    • 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.
    • Frequent abnormal pancreas imaging in patients with pathogenic ATM, BRCA1, BRCA2, and PALB2 breast cancer susceptibility variants.
    • Lucas AL, Fu Y, Labiner A, DiMaio CJ, Sethi A, Kastrinos F.
    • Clin Gastroenterol Hepatol. 2022 Sep 7:S1542-3565(22)00836-9. doi: 10.1016/j.cgh.2022.08.040. Epub ahead of print.
    • Survey
    • 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.
    • Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer.
    • Speight B, Colvin E, Epurescu ED, Drummond J, Verhoef S, Pereira M, Evans DG, Tischkowitz M.
    • Hered Cancer Clin Pract. 2022 Sep 6;20(1):32. doi: 10.1186/s13053-022-00237-x.
    • 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.
    • A germline exome analysis reveals harmful POT1 variants in multiple myeloma patients and families.
    • Hakkarainen M, Koski JR, Heckman CA, Anttila P, Silvennoinen R, Lievonen J, Kilpivaara O, Wartiovaara-Kautto U.
    • EJHaem. 2022 Sep 2;3(4):1352-1357. doi: 10.1002/jha2.557.
    • Integrative characterization of intraductal tubulopapillary neoplasm (ITPN) of the pancreas and associated invasive adenocarcinoma.
    • Mafficini A, Simbolo M, Shibata T, Hong SM, Pea A, Brosens LA, Cheng L, Antonello D, Sciammarella C, Cantù C, Mattiolo P, Taormina SV, Malleo G, Marchegiani G, Sereni E, Corbo V, Paolino G, Ciaparrone C, Hiraoka N, Pallaoro D, Jansen C, Milella M, Salvia R, Lawlor RT, Adsay V, Scarpa A, Luchini C.
    • Mod Pathol. 2022 Sep 2. doi: 10.1038/s41379-022-01143-2. Epub ahead of print.
    • Hereditary Cancer Syndromes-A Broader Clinical Spectrum Than Previously Understood?
    • Puthanmadhom Narayanan S, Najjar YG.
    • JAMA Oncol. 2022 Sep 1. doi: 10.1001/jamaoncol.2022.3776. Epub ahead of print.
    • Comment, Letter

    Reply, Letter:

    Hereditary Cancer Syndromes-A Broader Clinical Spectrum Than Previously Understood?-Reply.

    Original research:

    Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.

    • Frequency and clinical features of deficient mismatch repair in ovarian clear cell and endometrioid carcinoma.
    • Tanaka T, Takehara K, Yamashita N, Okazawa-Sakai M, Kuraoka K, Teramoto N, Taguchi K, Yamashiro K, Kato H, Mizunoe T, Suzuki R, Yamamoto D, Ueki A, Saito T.
    • J Gynecol Oncol. 2022 Sep;33(5):e67. doi: 10.3802/jgo.2022.33.e67.
    • Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to FANCD1/BRCA2 during adulthood: description of an emerging phenotype.
    • Ip E, McNeil C, Grimison P, Scheinberg T, Tudini E, Ho G, Scott RJ, Brown C, Sandroussi C, Guitera P, Spurdle AB, Goodwin A.
    • J Med Genet. 2022 Sep;59(9):912-915. doi: 10.1136/jmedgenet-2021-108072. Epub 2021 Oct 25.
    • Case report
    • A High Percentage of NSCLC With Germline CHEK2 Mutation Harbors Actionable Driver Alterations: Survey of a Cancer Genomic Database and Review of Literature.
    • Zhang SS, Lee JK, Tukachinsky H, Schrock AB, Nagasaka M, Ou SI.
    • JTO Clin Res Rep. 2022 Aug 6 [eCollection 2022 Sep];3(9):100387. doi: 10.1016/j.jtocrr.2022.100387.

    •• Letter, Commentary:

    CHEK2 Pathogenic Germline Variants in Patients With NSCLC.

    • HBOC syndrome with an uncharacterized variant in the BRCA1 gene in a patient diagnosed with endometrial cancer after surgery for bilateral breast cancer: A case report.
    • Mabuchi Y, Hamano Y, Minami S, Ota N, Ino K.
    • Oncol Lett. 2022 Jul 27 [eCollection 2022 Sep];24(3):325. doi: 10.3892/ol.2022.13445.
    • Identification of high-risk germline variants for the development of pancreatic cancer: Common characteristics and potential guidance to screening guidelines.
    • Bennett C, Suguitan M, Abad J, Chawla A.
    • Pancreatology. 2022 Sep;22(6):719-729. doi: 10.1016/j.pan.2022.05.005. Epub 2022 May 27.
    • Review
    • Genetic testing to guide screening for pancreatic ductal adenocarcinoma: Results of a microsimulation model.
    • Peters MLB, Eckel A, Lietz A, Seguin C, Mueller P, Hur C, Pandharipande PV.
    • Pancreatology. 2022 Sep;22(6):760-769. doi: 10.1016/j.pan.2022.05.003. Epub 2022 May 31.
    • Role of genetic testing in hepatic, pancreatic, and biliary cancers.
    • Hewitt DB, Aziz H, Brown ZJ, Pawlik TM.
    • Surg Oncol. 2022 Sep;44:101844. doi: 10.1016/j.suronc.2022.101844. Epub 2022 Sep 5.
    • Review
    • 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.
    • Clinico-genomic characterization of ATM and HRD in Pancreas Cancer: Application for Practice.
    • Park W, O'Connor CA, Bandlamudi C, Forman D, Chou JF, Umeda S, Reyngold M, Varghese AM, Keane F, Balogun F, Yu KH, Kelsen DP, Crane C, Capanu M, Iacobuzio-Donahue C, O'Reilly EM.
    • Clin Cancer Res. 2022 Aug 30:CCR-22-1483. doi: 10.1158/1078-0432.CCR-22-1483. Epub ahead of print.
    • Incidence of Germline Variants in Familial Bladder Cancer and Among Patients With Cancer Predisposition Syndromes.
    • Mossanen M, Nassar AH, Stokes SM, Martinez-Chanza N, Kumar V, Nuzzo PV, Kwiatkowski DJ, Garber JE, Curran C, Freeman D, Preston M, Mouw KW, Kibel A, Choueiri TK, Sonpavde G, Rana HQ.
    • Clin Genitourin Cancer. 2022 Aug 29:S1558-7673(22)00177-X. doi: 10.1016/j.clgc.2022.08.009. Epub ahead of print.
    • Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
    • Yngvadottir B, Andreou A, Bassaganyas L, Larionov A, Cornish AJ, Chubb D, Saunders CN, Smith PS, Zhang H, Cole Y, Research Consortium GE, Larkin J, Browning L, Turajlic S, Litchfield K, Houlston RS, Maher ER.
    • Hum Mol Genet. 2022 Aug 25;31(17):3001-3011. doi: 10.1093/hmg/ddac089.
    • Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.
    • Saygin C, Roloff GW, Hahn CN, Chhetri R, Gill SI, Elmariah H, Talati C, Nunley E, Gao G, Kim A, Bishop MR, Kosuri S, Das S, Singhal D, Venugopal P, Homan CC, Brown AL, Scott HS, Hiwase DK, Godley LA.
    • Blood Adv. 2022 Aug 24:bloodadvances.2022008172. doi: 10.1182/bloodadvances.2022008172. Epub ahead of print.
    • 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.
    • Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
    • Yu H, Xu Y, Gao W, Li M, He J, Deng X, Xing W.
    • Front Oncol. 2022 Aug 22;12:930611. doi: 10.3389/fonc.2022.930611.
    • BRCA1/2 variants and copy number alterations status in non familial triple negative breast cancer and high grade serous ovarian cancer.
    • El Ansari FZ, Jouali F, Fekkak R, Bakkach J, Ghailani Nourouti N, Barakat A, Bennani Mechita M, Fekkak J.
    • Hered Cancer Clin Pract. 2022 Aug 19;20(1):29. doi: 10.1186/s13053-022-00236-y.
    • Japanese nationwide observational multicenter study of tumor BRCA1/2 variant testing in advanced ovarian cancer.
    • Oda K, Aoki D, Tsuda H, Nishihara H, Aoyama H, Inomata H, Shimada M, Enomoto T.
    • Cancer Sci. 2022 Aug 17. doi: 10.1111/cas.15518. Epub ahead of print.
    • Oncologists Consider Germline Testing in Lung Cancer Patients Amid New Data Showing High Prevalence.
    • Hopkins C.
    • Precision Oncology News. Disease Areas. 2022 Aug 17.
    • Conference report
    • 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.
    • Case Report: Fluzoparib for multiple lines of chemotherapy refractory in metastatic cutaneous squamous cell carcinoma with BRCA2 pathogenic mutation.
    • Sun X, Chen W, Qu X, Chen Y.
    • Front Pharmacol. 2022 Aug 12;13:968060. doi: 10.3389/fphar.2022.968060.
    • Prédispositions génétiques au cancer gastrique et leur association au type histologique [Hereditary gastric cancer syndromes and their association with specific histological subtypes].
    • Dardenne A, Sirmai L, Metras J, Enea D, Svrcek M, Benusiglio PR.
    • Bull Cancer. 2022 Aug 10:S0007-4551(22)00277-6. French. doi: 10.1016/j.bulcan.2022.06.010. Epub ahead of print.
    • Review. [Article in French]
    • DNA damage repair genes alterations in genito-urinary malignancies.
    • Dariane C, Timsit MO.
    • Eur Surg Res. 2022 Aug 9. doi: 10.1159/000526415. Epub ahead of print.
    • Review
    • Rapid and durable response to fifth-line lorlatinib plus olaparib in an ALK-rearranged, BRCA2-mutated metastatic lung adenocarcinoma patient with critical tracheal stenosis: a case report.
    • Jin C, He Z, Guo M, Liu S, Wang Y, Qiu J, Li C, Wu D.
    • Anticancer Drugs. 2022 Aug 1;33(7):696-700. doi: 10.1097/CAD.0000000000001303. Epub 2022 Mar 23.
    • Case report
    • Current and future diagnostic and treatment strategies for patients with invasive lobular breast cancer.
    • Van Baelen K, Geukens T, Maetens M, Tjan-Heijnen V, Lord CJ, Linn S, Bidard FC, Richard F, Yang WW, Steele RE, Pettitt SJ, Van Ongeval C, De Schepper M, Isnaldi E, Nevelsteen I, Smeets A, Punie K, Voorwerk L, Wildiers H, Floris G, Vincent-Salomon A, Derksen PWB, Neven P, Senkus E, Sawyer E, Kok M, Desmedt C.
    • Ann Oncol. 2022 Aug;33(8):769-785. doi: 10.1016/j.annonc.2022.05.006. Epub 2022 May 21.
    • Germline CHEK2 and ATM Variants in Myeloid and Other Hematopoietic Malignancies.
    • Stubbins RJ, Korotev S, Godley LA.
    • Curr Hematol Malig Rep. 2022 Aug;17(4):94-104. doi: 10.1007/s11899-022-00663-7. Epub 2022 Jun 8.
    • Review
    • 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.
    • Cutaneous apocrine adenocarcinoma in a PALB2 germline pathogenic variant carrier.
    • Idoudi S, Golmard L, Harou O, Martin-Denavit T, Tantot J, Dalle S.
    • J Eur Acad Dermatol Venereol. 2022 Aug;36(8):e636-e638. doi: 10.1111/jdv.18094. Epub 2022 Mar 28.
    • Case report
    • Follicular Thyroid Cancer With Ocular Metastasis in a Patient With a Pathogenic Germline Variant in the Checkpoint Kinase 2 (CHEK2) Gene.
    • Asa SL, Wilhelm SM, Farrell R.
    • Mayo Clin Proc. 2022 Aug;97(8):1422-1423. doi: 10.1016/j.mayocp.2022.05.008.
    • Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
    • Kar SP, Quiros PM, Gu M, Jiang T, Mitchell J, Langdon R, Iyer V, Barcena C, Vijayabaskar MS, Fabre MA, Carter P, Petrovski S, Burgess S, Vassiliou GS.
    • Nat Genet. 2022 Aug;54(8):1155-1166. doi: 10.1038/s41588-022-01121-z. Epub 2022 Jul 14.

    Research news:

    Novel Germline Loci Are Associated with Clonal Hematopoiesis Risk.

    Research news: New Clonal Hematopoiesis Genetic Risk Loci Identified in UK Biobank Study. (Precision Oncology News)

    • Impact of comprehensive family history and genetic analysis in the multidisciplinary pancreatic tumor clinic setting.
    • Everett JN, Dettwyler SA, Jing X, Stender C, Schmitter M, Baptiste A, Chun J, Kawaler EA, Khanna LG, Gross SA, Gonda TA, Beri N, Oberstein PE, Simeone DM.
    • Cancer Med. 2022 Jul 30. doi: 10.1002/cam4.5059. Epub ahead of print.
    • Case Report: Sustained complete remission on combination therapy with olaparib and pembrolizumab in BRCA2-mutated and PD-L1-positive metastatic cholangiocarcinoma after platinum derivate.
    • Zhou T, Mahn R, Möhring C, Sadeghlar F, Meyer C, Toma M, Kreppel B, Essler M, Glowka T, Matthaei H, Kalff JC, Strassburg CP, Gonzalez-Carmona MA.
    • Front Oncol. 2022 Jul 25;12:933943. doi: 10.3389/fonc.2022.933943.
    • Germline Testing of Patients With Non-small Cell Lung Cancers Demonstrating Incidentally Uncovered BRCA2 Apparent Pathogenic Germline Variants.
    • Sorscher S.
    • Clin Lung Cancer. 2022 Jul 21 [2022 Jul 20]:S1525-7304(22)00163-2. doi: 10.1016/j.cllc.2022.07.011. Epub ahead of print.
    • Peutz-Jeghers Syndrome.
    • Wu M, Krishnamurthy K.
    • StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan–. 2022 Jul 19.
    • Case Report: Next-Generation Sequencing-Based Detection in A Patient with Three Synchronous Primary Tumors.
    • Wu T, Wan J, Xia K, Yang M, Feng L, Yin L, Chen C.
    • Front Oncol. 2022 Jul 15;12:910264. doi: 10.3389/fonc.2022.910264.
    • Study Confirms BRCA1 and BRCA2 Linked to Seven Cancers.
    • Alexander W.
    • Medscape Oncology. 2022 Jul 12.

    Original research:

    Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.

    • Pancreatic Ductal Carcinoma Risk Associated with Hereditary Cancer-Risk Genes.
    • Gardiner A, Kidd J, Elias MC, Young K, Mabey B, Taherian N, Cummings S, Malafa M, Rosenthal E, Permuth JB.
    • J Natl Cancer Inst. 2022 Jul 11;114(7):996-1002. doi: 10.1093/jnci/djac069.
    • Do Not Forget Poly (Adenosine Diphosphate-Ribose) Polymerase Inhibitors in Ovarian Carcinosarcoma.
    • Magalhães D, Bartosch C, Abreu MH.
    • Cureus. 2022 Jul 8;14(7):e26662. doi: 10.7759/cureus.26662.
    • A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility Genes.
    • Astiazaran-Symonds E, Kim J, Haley JS, Kim SY, Rao HS, Genetics Center R, Carey DJ, Stewart DR, Goldstein AM.
    • Cancers (Basel). 2022 Jul 2;14(13):3257. doi: 10.3390/cancers14133257.
    • Germline Pathogenic Variants Impact Clinicopathology of Advanced Lung Cancer.
    • Mukherjee S, Bandlamudi C, Hellmann MD, Kemel Y, Drill E, Rizvi H, Tkachuk K, Khurram A, Walsh MF, Zauderer MG, Mandelker D, Topka S, Zehir A, Srinivasan P, Esai Selvan M, Carlo MI, Cadoo KA, Latham A, Hamilton JG, Liu YL, Lipkin SM, Belhadj S, Bond GL, Gümüs ZH, Klein RJ, Ladanyi M, Solit DB, Robson ME, Jones DR, Kris MG, Vijai J, Stadler ZK, Amos CI, Taylor BS, Berger MF, Rudin CM, Offit K.
    • Cancer Epidemiol Biomarkers Prev. 2022 Jul 1;31(7):1450-1459. doi: 10.1158/1055-9965.EPI-21-1287.
    • Epithelial Ovarian Cancer: Providing Evidence of Predisposition Genes.
    • Shah S, Cheung A, Kutka M, Sheriff M, Boussios S.
    • Int J Environ Res Public Health. 2022 Jul 1;19(13):8113. doi: 10.3390/ijerph19138113.
    • BRCA1/2 in non-mucinous epithelial ovarian cancer: tumour with or without germline testing?
    • Morgan RD, Burghel GJ, Flaum N, Bulman M, Smith P, Clamp AR, Hasan J, Mitchell CL, Salih Z, Woodward ER, Lalloo F, Crosbie EJ, Edmondson RJ, Wallace AJ, Jayson GC, Evans DGR.
    • Br J Cancer. 2022 Jul;127(1):163-167. doi: 10.1038/s41416-022-01773-y. Epub 2022 Mar 8.
    • Review
    • A comprehensive literature review and meta-analysis of the prevalence of pan-cancer BRCA mutations, homologous recombination repair gene mutations, and homologous recombination deficiencies.
    • Shao C, Wan J, Lam FC, Tang H, Marley AR, Song Y, Miller C, Brown M, Han J, Adeboyeje G.
    • Environ Mol Mutagen. 2022 Jul;63(6):308-316. doi: 10.1002/em.22505. Epub 2022 Aug 30.
    • Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors.
    • Lee A, Yang X, Tyrer J, Gentry-Maharaj A, Ryan A, Mavaddat N, Cunningham AP, Carver T, Archer S, Leslie G, Kalsi J, Gaba F, Manchanda R, Gayther S, Ramus SJ, Walter FM, Tischkowitz M, Jacobs I, Menon U, Easton DF, Pharoah P, Antoniou AC.
    • J Med Genet. 2022 Jul;59(7):632-643. doi: 10.1136/jmedgenet-2021-107904. Epub 2021 Nov 29.
    • The clinical features and management of Lynch syndrome-associated ovarian cancer.
    • Ran X, Jing H, Li Z.
    • J Obstet Gynaecol Res. 2022 Jul;48(7):1538-1545. doi: 10.1111/jog.15273. Epub 2022 Apr 27.
    • Review
    • Germline mutations in Chinese ovarian cancer with or without breast cancer.
    • Kwong A, Ho CYS, Shin VY, Au CH, Luk WP, Fung LH, Chan TL, Chan KKL, Ngan HYS, Ma ESK.
    • Mol Genet Genomic Med. 2022 Jul;10(7):e1940. doi: 10.1002/mgg3.1940. Epub 2022 May 24.
    • Germline Aberrations in Pancreatic Cancer: Implications for Clinical Care.
    • Casolino R, Corbo V, Beer P, Hwang CI, Paiella S, Silvestri V, Ottini L, Biankin AV.
    • Cancers (Basel). 2022 Jun 30;14(13):3239. doi: 10.3390/cancers14133239.
    • EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer.
    • Lehrer S, Rheinstein PH.
    • Cancer Treat Res Commun. 2022 [2022 Jun 28];32:100595. doi: 10.1016/j.ctarc.2022.100595. Epub 2022 Jun 28.
    • Current status of inherited pancreatic cancer.
    • Olakowski M, Buldak L.
    • Hered Cancer Clin Pract. 2022 Jun 27;20(1):26. doi: 10.1186/s13053-022-00224-2.
    • Gynecological Cancers in Lynch Syndrome: A Comparison of the Histological Features with Sporadic Cases of the General Population.
    • Bounous VE, Robba E, Perotto S, Pasini B, Tomasi Cont N, Ricci MT, Ditto A, Vitellaro M, Raspagliesi F, Biglia N.
    • J Clin Med. 2022 Jun 27;11(13):3689. doi: 10.3390/jcm11133689.
    • Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients.
    • Arslan Ates E, Turkyilmaz A, Alavanda C, Yildirim O, Guney AI.
    • Medeni Med J. 2022 Jun 23;37(2):150-158. doi: 10.4274/MMJ.galenos.2022.22556.
    • Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake.
    • Ramsey ML, Tomlinson J, Pearlman R, Abushahin L, Aeilts A, Chen HZ, Chen Y, Compton A, Elkhatib R, Geiger L, Hays J, Jeter J, Jin N, Malalur P, Roychowdhury S, Ruple J, Prebish J, Stanich PP, Hampel H.
    • Fam Cancer. 2022 Jun 17. doi: 10.1007/s10689-022-00300-5. Epub ahead of print.
    • The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.
    • Dong L, Zhang H, Zhang H, Ye Y, Cheng Y, Li L, Wei L, Han L, Cao Y, Li S, Hao X, Liu J, Yu J.
    • Cancer Biol Med. 2021 Sep 28 [2022 Jun 15];19(6):850–70. doi: 10.20892/j.issn.2095-3941.2021.0011. Epub ahead of print.
    • Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization.
    • Hol JA, Kuiper RP, van Dijk F, Waanders E, van Peer SE, Koudijs MJ, Bladergroen R, van Reijmersdal SV, Morgado LM, Bliek J, Lombardi MP, Hopman S, Drost J, de Krijger RR, van den Heuvel-Eibrink MM, Jongmans MCJ.
    • J Clin Oncol. 2022 Jun 10;40(17):1892-1902. doi: 10.1200/JCO.21.02510. Epub 2022 Mar 1.

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

    • Leptomeningeal disease in BRIP1-mutated pancreatic adenocarcinoma.
    • Yim E, Leung D.
    • BMJ Case Rep. 2022 Jun 8;15(6):e249837. doi: 10.1136/bcr-2022-249837.
    • Case report
    • Characterization of rare histological subtypes of ovarian cancer based on molecular profiling.
    • Takahashi N, Hatakeyama K, Nagashima T, Ohshima K, Urakami K, Yamaguchi K, Hirashima Y.
    • Cancer Med. 2022 Jun 8. doi: 10.1002/cam4.4927. Epub ahead of print.
    • Pancreatic cancer: Cutaneous metastases, clinical descriptors and outcomes.
    • Gu L, Mehta PP, Rao D, Rotemberg V, Capanu M, Chou J, Lin S, Sigel CS, Busam KJ, Boyce L, Gordon A, O'Reilly EM.
    • Cancer Med. 2022 Jun 6. doi: 10.1002/cam4.4916. Epub ahead of print.
    • Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program.
    • Bychkovsky BL, Li T, Sotelo J, Tayob N, Mercado J, Gomy I, Chittenden A, Kane S, Stokes S, Hughes ME, Kim JS, Umeton R, Awad MM, Konstantinopoulos PA, Yurgelun MB, Wolpin BM, Taplin ME, Newmark RE, Johnson BE, Lindeman NI, MacConaill LE, Garber JE, Lin NU.
    • Clin Cancer Res. 2022 Jun 1;28(11):2349-2360. doi: 10.1158/1078-0432.CCR-21-2861.
    • Application of Multigene Panel Testing In Patients With High Risk for Hereditary Colorectal Cancer: A Descriptive Report Focused On Genotype-Phenotype Correlation.
    • Park JS, Park JW, Shin S, Lee ST, Shin SJ, Min BS, Park SJ, Park JJ, Cheon JH, Kim WH, Kim TI.
    • Dis Colon Rectum. 2022 Jun 1;65(6):793-803. doi: 10.1097/DCR.0000000000002039. Epub 2022 May 3.
    • Ipilimumab/Nivolumab Therapy in Patients With Metastatic Pancreatic or Biliary Cancer With Homologous Recombination Deficiency Pathogenic Germline Variants.
    • Terrero G, Datta J, Dennison J, Sussman DA, Lohse I, Merchant NB, Hosein PJ.
    • JAMA Oncol. 2022 Jun 1;8(6):1-3. doi: 10.1001/jamaoncol.2022.0611.
    • Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.
    • Zeng C, Bastarache LA, Tao R, Venner E, Hebbring S, Andujar JD, Bland ST, Crosslin DR, Pratap S, Cooley A, Pacheco JA, Christensen KD, Perez E, Zawatsky CLB, Witkowski L, Zouk H, Weng C, Leppig KA, Sleiman PMA, Hakonarson H, Williams MS, Luo Y, Jarvik GP, Green RC, Chung WK, Gharavi AG, Lennon NJ, Rehm HL, Gibbs RA, Peterson JF, Roden DM, Wiesner GL, Denny JC.
    • JAMA Oncol. 2022 Jun 1;8(6):835-844. doi: 10.1001/jamaoncol.2022.0373.

    Commentary:

    A Phenome-Wide Association Study and the Discovery of a New Clinical Spectrum of Hereditary Cancer Genes.

    Comment, Letter:

    Hereditary Cancer Syndromes—A Broader Clinical Spectrum Than Previously Understood?

    Reply, Letter:

    Hereditary Cancer Syndromes-A Broader Clinical Spectrum Than Previously Understood?-Reply.

    Research news: Phenome-Wide Association Study Links Hereditary Cancer Genes to Additional Phenotypes. (GenomeWeb)

    • Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
    • Momozawa Y, Sasai R, Usui Y, Shiraishi K, Iwasaki Y, Taniyama Y, Parsons MT, Mizukami K, Sekine Y, Hirata M, Kamatani Y, Endo M, Inai C, Takata S, Ito H, Kohno T, Matsuda K, Nakamura S, Sugano K, Yoshida T, Nakagawa H, Matsuo K, Murakami Y, Spurdle AB, Kubo M.
    • JAMA Oncol. 2022 Jun 1;8(6):871-878. doi: 10.1001/jamaoncol.2022.0476.

    Research news: Study Confirms BRCA1 and BRCA2 Linked to Seven Cancers. (Medscape Oncology)

    • Ovarian tumors and genetic predisposition.
    • Štellmachová J, Vrtel P, Vrtel R, Janíková M, Kolaríková K, Procházka M, Vodicka R.
    • Ceska Gynekol. 2022 Summer;87(3):211-216. English. doi: 10.48095/cccg2022211.
    • A BRCA1 Splice Site Variant Responsible for Familial Ovarian Cancer in a Han-Chinese Family.
    • Hu PZ, Chen XY, Xiong W, Yang ZJ, Li XR, Deng WZ, Gong LN, Deng H, Yuan LM.
    • Curr Med Sci. 2022 Jun;42(3):666-672. doi: 10.1007/s11596-022-2527-2. Epub 2022 Mar 15.
    • Case report
    • Utility of germline multi-gene panel testing in patients with endometrial cancer.
    • Karpel HC, Chern JY, Smith J M, Smith A J, Pothuri B.
    • Gynecol Oncol. 2022 Jun;165(3):546-551. doi: 10.1016/j.ygyno.2022.04.003. Epub 2022 Apr 26.
    • RAD51B Harbors Germline Mutations Associated With Pancreatic Ductal Adenocarcinoma.
    • Xie F, Ding D, Lin C, Cunningham D, Wright M, Javed AA, Azad N, Lee V, Donehower R, De Jesus-Acosta A, Le DT, Pishvaian M, Shin EJ, Lennon AM, Khashab M, Singh V, Klein AP, Roberts NJ, Hacker-Prietz A, McPhaul T, Burkhart RA, Burns WR, Narang A, Zaheer A, Fishman EK, Thompson ED, Anders R, Yu J, He J, Wolfgang CL, Zheng L, Liu D, Wu K, Laheru DA.
    • JCO Precis Oncol. 2022 Jun;6:e2100404. doi: 10.1200/PO.21.00404.
    • Concurrent Germline BRCA1/2 and Mismatch Repair Mutations in Young-Onset Pancreatic and Colorectal Cancer: The Importance of Comprehensive Germline and Somatic Characterization to Inform Therapeutic Options.
    • Ozer M, Ranganathan M, Lecomte N, Schvartzman JM, Walch HS, Chatila WK, Hong J, Carlo MI, Walsh MF, Sheehan M, Mandelker D, Ceyhan-Birsoy O, Maio A, Kemel Y, Iacobuzio-Donahue CA, O'Reilly EM, Yu KH.
    • JCO Precis Oncol. 2022 Jun;6:e2100560. doi: 10.1200/PO.21.00560.
    • Case report
    • Delayed Craniospinal Metastasis of Aggressive Nonfunctioning Pituitary Adenomas as Pituitary Carcinomas.
    • Raghu ALB, Everson MC, Helal A, Kiyofuji S, Clarke MJ, Link MJ.
    • J Neurol Surg B Skull Base. 2021 Mar 1 [eCollection 2022 Jun];83(Suppl 2):e253-e259. doi: 10.1055/s-0041-1725024.
    • Genetic susceptibility to ovarian cancers [Oncogénétique dans les cancers de l'ovaire].
    • Desseignés C, R Benusiglio P.
    • Rev Prat. 2022 Jun;72(6):639-641. French.
    • Endometrial Cancer and BRCA Mutations: A Systematic Review.
    • Gasparri ML, Bellaminutti S, Farooqi AA, Cuccu I, Di Donato V, Papadia A.
    • J Clin Med. 2022 May 31;11(11):3114. doi: 10.3390/jcm11113114.
    • Complete response to pembrolizumab in a patient with dermatomyositis and MMR deficient ovarian cancer: A case report.
    • Valls ML, Kase AM, Patel R, Wang B, Aggarwal R, Colon-Otero G.
    • Gynecol Oncol Rep. 2022 May 25;41:101010. doi: 10.1016/j.gore.2022.101010.
    • Genomic features of Chinese small cell lung cancer.
    • Liu J, Zhao Z, Wei S, Li B, Zhao Z.
    • BMC Med Genomics. 2022 May 20;15(1):117. doi: 10.1186/s12920-022-01255-3.
    • Prevalence of Germline Findings Among Tumors From Cancer Types Lacking Hereditary Testing Guidelines.
    • Yap TA, Ashok A, Stoll J, Mauer E, Nepomuceno VM, Blackwell KL, Garber JE, Meric-Bernstam F.
    • JAMA Netw Open. [2022 May 20];5(5):e2213070. doi: 10.1001/jamanetworkopen.2022.13070.

    Commentary:

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

    • Dramatic response to local radiotherapy in a refractory metastatic mediastinal yolk sac tumor patient harboring a germline BRCA2 frameshift mutation: a case report.
    • Cheng X, Yu H, Li J, Han X, Meng E, Zhou H, Wang D, Niu B, Zhang X.
    • Cancer Biol Ther. 2022 Dec 31 [Published online: 2022 May 16];23(1):393-400. doi: 10.1080/15384047.2022.2072635.
    • BRCA-Mutated Pancreatic Cancer: From Discovery to Novel Treatment Paradigms.
    • Devico Marciano N, Kroening G, Dayyani F, Zell JA, Lee FC, Cho M, Valerin JG.
    • Cancers (Basel). 2022 May 16;14(10):2453. doi: 10.3390/cancers14102453.
    • Understanding the Experience of Canadian Women Living with Ovarian Cancer through the Every Woman Study™.
    • Tone A, Boghosian T, Ross A, Baugh E, Altman AD, Dawson L, Reid F, Crawford C.
    • Curr Oncol. 2022 May 5;29(5):3318-3340. doi: 10.3390/curroncol29050271.
    • CDH1 germline mutations in families with hereditary lobular breast cancer.
    • Girardi A, Magnoni F, Vicini E, Kouloura A, La Vecchia C, Veronesi P, Corso G.
    • Eur J Cancer Prev. 2022 May 1;31(3):274-278. doi: 10.1097/CEJ.0000000000000688.
    • Review
    • Promotion Effects of Smoking in Polyp Development in Monozygotic Twins with Atypical Colorectal Polyposis.
    • Yoshida N, Ishikawa H, Eguchi H, Okazaki Y, Hirose R, Inoue K, Dohi O, Itoh Y, Mutoh M, Ishiguro S, Ishida H.
    • Case Rep Gastroenterol. 2022 Jun 13 [eCollection 2022 May-Aug];16(2):375-381. doi: 10.1159/000524944.
    • A Review of MutSa and its Absence in Mismatch Repair Related Ovarian Carcinomas.
    • Hayes A, Jaman A, Johnson E, Rausch M.
    • FASEB J. 2022 May;36 Suppl 1. doi: 10.1096/fasebj.2022.36.S1.R4038.
    • Conference abstract. Review
    • The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population.
    • Alenezi WM, Milano L, Fierheller CT, Serruya C, Revil T, Oros KK, Behl S, Arcand SL, Nayar P, Spiegelman D, Gravel S, Mes-Masson AM, Provencher D, Foulkes WD, El Haffaf Z, Rouleau G, Bouchard L, Greenwood CMT, Masson JY, Ragoussis J, Tonin PN.
    • Cancers (Basel). 2022 Apr 30;14(9):2251. doi: 10.3390/cancers14092251.
    • Response in BRCA1 mutation carrier with metastatic pancreatic adenocarcinoma treated with FOLFIRINOX.
    • Campoverde LE, Batalini F, Bulushi Y, Bullock A.
    • BMJ Case Rep. 2022 Apr 29;15(4):e249370. doi: 10.1136/bcr-2022-249370.
    • Case report
    • Germline BRCA1 and BRCA2 mutations and the risk of bladder or kidney cancer in Poland.
    • Zlowocka-Perlowska E, Toloczko-Grabarek A, Narod SA, Lubinski J.
    • Hered Cancer Clin Pract. 2022 Apr 8;20(1):13. doi: 10.1186/s13053-022-00220-6.
    • Identification and Somatic Characterization of the Germline PTEN Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors.
    • Disciglio V, Sanese P, Fasano C, Lotesoriere C, Valentini AM, Forte G, Lepore Signorile M, De Marco K, Grossi V, Lolli I, Cariola F, Simone C.
    • Genes (Basel). 2022 Apr 5;13(4):644. doi: 10.3390/genes13040644.
    • Cancer in children with biallelic BRCA1 variants and Fanconi anemia-like features: Report of a malignant brain tumor in a young child.
    • Borlin PR, Brazzola P, Frontzek K, Zanoni P, Morscher RJ, Hench J, Frank S, Kottke R, Rushing EJ, Goeggel Simonetti B, Steindl K, Guerreiro Stucklin AS.
    • Pediatr Blood Cancer. 2022 Apr 4:e29680. doi: 10.1002/pbc.29680. Epub ahead of print.
    • Case report
    • Core Homologous Recombination Mutations and Improved Survival in Nonpancreatic GI Cancers.
    • Tan E, Whiting J, Knepper T, Xie H, Imanirad I, Carballido E, Felder S, Frakes J, Mo Q, Permuth JB, Somerer K, Kim R, Anaya DA, Fleming JB, Walko C, Sahin IH.
    • Am J Clin Oncol. 2022 Apr 1;45(4):137-141. doi: 10.1097/COC.0000000000000901.
    • Germline pathogenic variants in cancer risk genes among patients with thyroid cancer and suspected predisposition.
    • Kamihara J, Zhou J, LaDuca H, Wassner AJ, Dalton E, Garber JE, Black MH.
    • Cancer Med. 2022 Apr;11(8):1745-1752. doi: 10.1002/cam4.4549. Epub 2022 Feb 17.
    • Extended gene panel testing in lobular breast cancer.
    • van Veen EM, Evans DG, Harkness EF, Byers HJ, Ellingford JM, Woodward ER, Bowers NL, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ.
    • Fam Cancer. 2022 Apr;21(2):129-136. doi: 10.1007/s10689-021-00241-5. Epub 2021 Mar 25.
    • Cancer Risk Variants Found in Significant Subset of Sarcoma Patient Germlines.
    • [No author given]
    • GenomeWeb. Disease Areas. Cancer. 2022 Mar 25.
    • You Don’t Have a BRCA Mutation, But Could You Have Lynch Syndrome?
    • [No author given]
    • My Gene Counsel. Genetic Journal. 2022 Mar 22.

    Original research:

    Errors in delivery of cancer genetics services: implications for practice.

    • Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor.
    • Ogrodniczak A, Menkiszak J, Gronwald J, Tomiczek-Szwiec J, Szwiec M, Cybulski C, Debniak T, Huzarski T, Toloczko-Grabarek A, Byrski T, Bialkowska K, Prajzendanc K, Baszuk P, Lubinski J, Jakubowska A.
    • Hered Cancer Clin Pract. 2022 Mar 21;20(1):11. doi: 10.1186/s13053-022-00218-0.
    • Molecular Pathology of Pancreatic Cancer.
    • Karamitopoulou E.
    • Cancers (Basel). 2022 Mar 16;14(6):1523. doi: 10.3390/cancers14061523.
    • A multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes.
    • Mortlock S, Corona RI, Kho PF, Pharoah P, Seo JH, Freedman ML, Gayther SA, Siedhoff MT, Rogers PAW, Leuchter R, Walsh CS, Cass I, Karlan BY, Rimel BJ; Ovarian Cancer Association Consortium, International Endometriosis Genetics Consortium, Montgomery GW, Lawrenson K, Kar SP.
    • Cell Rep Med. 2022 Mar 15;3(3):100542. doi: 10.1016/j.xcrm.2022.100542.

    Research news: Ovarian Cancer Subtypes, Endometriosis Show Genetic Overlap in Study. (GenomeWeb)

    • Platinum-based chemotherapy for pancreatic cancer: impact of mutations in the homologous recombination repair and Fanconi anemia genes.
    • Emelyanova M, Pudova E, Khomich D, Krasnov G, Popova A, Abramov I, Mikhailovich V, Filipenko M, Menshikova S, Tjulandin S, Pokataev I.
    • Ther Adv Med Oncol. 2022 Mar 15;14:17588359221083050. doi: 10.1177/17588359221083050.
    • BRCA1 Mutation: An Insidious Enemy with Multiple Facets….
    • Godin P, Duhoux FP, Mazzeo F, Rojas M, Bollue E, François A, Galant C, Coulie J, Coyette M, Lentini A, Deswisen Y, Perlepe V, Fellah L, Leconte I, Berlière M.
    • Case Rep Oncol. 2022 Mar 14;15(1):238-244. doi: 10.1159/000521840.
    • A Case of Pheochromocytoma as a Subsequent Neoplasm in a Survivor of Childhood Embryonal Rhabdomyosarcoma.
    • Rodwin RL, Janardan SK, Hofstatter EW, Kadan-Lottick NS.
    • J Pediatr Hematol Oncol. 2022 Mar 1;44(2):e585-e588. doi: 10.1097/MPH.0000000000002270.
    • Case report
    • Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2-negative individuals who had genetic testing in a large urban comprehensive cancer center.
    • Tatineni S, Tarockoff M, Abdallah N, Purrington KS, Assad H, Reagle R, Petrucelli N, Simon MS.
    • Cancer Med. 2022 Mar;11(6):1465-1473. doi: 10.1002/cam4.4541. Epub 2022 Jan 17.
    • Next-generation sequencing of endoscopically obtained tissues from patients with all stages of pancreatic cancer.
    • Takano S, Fukasawa M, Shindo H, Takahashi E, Fukasawa Y, Kawakami S, Hayakawa H, Kuratomi N, Kadokura M, Yamaguchi T, Inoue T, Maekawa S, Enomoto N.
    • Cancer Sci. 2022 Mar;113(3):1069-1077. doi: 10.1111/cas.15249. Epub 2022 Jan 10.
    • Epidemiology and geographic distribution of BRCA1-2 and DNA Damage response genes pathogenic variants in pancreatic ductal adenocarcinoma patients.
    • Macchini M, Centonze F, Peretti U, Orsi G, Militello AM, Valente MM, Cascinu S, Reni M.
    • Cancer Treat Rev. 2022 Mar;104:102357. doi: 10.1016/j.ctrv.2022.102357. Epub 2022 Feb 10.
    • Review
    • Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment.
    • Allione A, Grosso F, Libener R, Muzio A, Rena O, Baietto G, Parini S, Boldorini R, Giachino D, Papotti M, Scagliotti GV, Migliore E, Mirabelli D, Moro L, Magnani C, Ferrante D, Matullo G, Dianzani I.
    • Eur J Cancer. 2022 Mar;163:44-54. doi: 10.1016/j.ejca.2021.12.023. Epub 2022 Jan 13.
    • Incidence and Prevalence of Intraductal Papillary Mucinous Neoplasms in Individuals With BRCA1 and BRCA2 Pathogenic Variant.
    • Shah I, Silva-Santisteban A, Germansky KA, Wadhwa V, Tung N, Huang DC, Kandasamy C, Mlabasati J, Bilal M, Sawhney MS.
    • J Clin Gastroenterol. 2022 Feb 28. doi: 10.1097/MCG.0000000000001683. Epub ahead of print.
    • A Case Report of CHEK2 and MUTYH Germline Mutations Associated With Cholangiocarcinoma in a Young Patient.
    • Rehman O, Sackfield B, Thoguluva Chandrasekar V, Oliver J, Aswath G.
    • Cureus. 2022 Feb 26;14(2):e22631. doi: 10.7759/cureus.22631.
    • CHEK2p.I157T Mutation Is Associated with Increased Risk of Adult-Type Ovarian Granulosa Cell Tumors.
    • Švajdler P, Vasovcák P, Švajdler M, Šedivcová M, Urbán V, Michal M, Mezencev R.
    • Cancers (Basel). 2022 Feb 25;14(5):1208. doi: 10.3390/cancers14051208.
    • Poly Adenosine Diphosphate-Ribose Polymerase (PARP) Inhibitors in Pancreatic Cancer.
    • Sunkara T, Bandaru SS, Boyilla R, Kunadharaju R, Kukkadapu P, Chennamadhavuni A.
    • Cureus. 2022 Feb 24;14(2):e22575. doi: 10.7759/cureus.22575.
    • Case Report Series: Aggressive HR Deficient Colorectal Cancers Related to BRCA1 Pathogenic Germline Variants.
    • Freire MV, Martin M, Thissen R, Van Marcke C, Segers K, Sépulchre E, Leroi N, Lété C, Fasquelle C, Radermacher J, Gokburun Y, Collignon J, Sacré A, Josse C, Palmeira L, Bours V.
    • Front Oncol. 2022 Feb 24;12:835581. doi: 10.3389/fonc.2022.835581.
    • The First Case Report of a Patient With Oligodendroglioma Harboring CHEK2 Germline Mutation.
    • Li X, Xue H, Luo N, Han T, Li M, Jia D.
    • Front Genet. 2022 Feb 23;13:718689. doi: 10.3389/fgene.2022.718689.
    • Risk of Second Primary Thyroid Cancer in Women with Breast Cancer.
    • Cieszynska M, Kluzniak W, Wokolorczyk D, Cybulski C, Huzarski T, Gronwald J, Falco M, Debniak T, Jakubowska A, Derkacz R, Marciniak W, Lener M, Woronko K, Mocarz D, Baszuk P, Bryskiewicz M, Narod SA, Lubinski J.
    • Cancers (Basel). 2022 Feb 15;14(4):957. doi: 10.3390/cancers14040957.
    • Precision Medicine for BRCA/PALB2-Mutated Pancreatic Cancer and Emerging Strategies to Improve Therapeutic Responses to PARP Inhibition.
    • Principe DR.
    • Cancers (Basel). 2022 Feb 11;14(4):897. doi: 10.3390/cancers14040897.
    • Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation.
    • Vietri MT, D'Elia G, Caliendo G, Albanese L, Signoriello G, Napoli C, Molinari AM.
    • Genes (Basel). 2022 Feb 9;13(2):321. doi: 10.3390/genes13020321.
    • Germline Cancer Testing in Unselected Patients with Gastric and Esophageal Cancers: A Multi-center Prospective Study.
    • Uson PLS Jr, Kunze KL, Golafshar MA, Botrus G, Riegert-Johnson D, Boardman L, Borad MJ, Ahn D, Sonbol MB, Kahn A, Klint M, Esplin ED, Nussbaum RL, Stewart AK, Bekaii-Saab T, Samadder NJ.
    • Dig Dis Sci. 2022 Feb 5. doi: 10.1007/s10620-022-07387-x. Epub ahead of print.
    • Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.
    • Yin L, Wei J, Lu Z, Huang S, Gao H, Chen J, Guo F, Tu M, Xiao B, Xi C, Zhang K, Li Q, Wu J, Gao W, Jiang K, Yu J, Miao Y.
    • JAMA Netw Open. 2022 Feb 1;5(2):e2148721. doi: 10.1001/jamanetworkopen.2021.48721.
    • The detection of germline and somatic BRCA1/2 genetic variants through parallel testing of patients with high-grade serous ovarian cancer: a national retrospective audit.
    • Frugtniet B, Morgan S, Murray A, Palmer-Smith S, White R, Jones R, Hanna L, Fuller C, Hudson E, Mullard A, Quinton AE.
    • BJOG. 2022 Feb;129(3):433-442. doi: 10.1111/1471-0528.16975. Epub 2021 Nov 8.

    Commentary:

    Gene sequencing in ovarian cancer: continually moving targets.

    Commentary:

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

    • Studying the association between breast cancer and renal cell carcinoma.
    • Jazieh K, Baidoun F, Torrejon N, Merjaneh Z, Saad A, Gad M, Farouk A, Ornstein M, Abraham J.
    • Breast Cancer Res Treat. 2022 Feb;191(3):643-652. doi: 10.1007/s10549-021-06465-4. Epub 2021 Dec 2.
    • Clinicopathological features and BRCA1 and BRCA2 mutation status in a prospective cohort of young women with breast cancer.
    • Guzmán-Arocho YD, Rosenberg SM, Garber JE, Vardeh H, Poorvu PD, Ruddy KJ, Kirkner G, Snow C, Tamimi RM, Peppercorn J, Schapira L, Borges VF, Come SE, Brachtel EF, Marotti JD, Warner E, Partridge AH, Collins LC.
    • Br J Cancer. 2022 Feb;126(2):302-309. doi: 10.1038/s41416-021-01597-2. Epub 2021 Oct 26.
    • Influence of Cancer Susceptibility Gene Mutations and ABO Blood Group of Pancreatic Cancer Probands on Concomitant Risk to First-Degree Relatives.
    • Antwi SO, Rabe KG, Bamlet WR, Meyer M, Chandra S, Fagan SE, Hu C, Couch FJ, McWilliams RR, Oberg AL, Petersen GM.
    • Cancer Epidemiol Biomarkers Prev. 2022 Feb;31(2):372-381. doi: 10.1158/1055-9965.EPI-21-0745. Epub 2021 Nov 15.
    • Survey of germline variants in cancer-associated genes in young adults with colorectal cancer.
    • Mikaeel RR, Young JP, Li Y, Smith E, Horsnell M, Uylaki W, Tapia Rico G, Poplawski NK, Hardingham JE, Tomita Y, Townsend AR, Feng J, Zibat A, Kaulfuß S, Müller C, Yigit G, Wollnik B, Price TJ.
    • Genes Chromosomes Cancer. 2022 Feb;61(2):105-113. doi: 10.1002/gcc.23011. Epub 2021 Nov 18.
    • Pathogenic BRCA2 germline variants in combined hepatocellular-cholangiocarcinoma.
    • Li H, Zhang X, Finberg KE, Walther Z, Jain D, Gibson J.
    • Pathol Int. 2022 Feb;72(2):138-140. doi: 10.1111/pin.13188. Epub 2021 Nov 22.
    • Case report
    • CHEK2 mutations and papillary thyroid cancer: correlation or coincidence?
    • Koen K, Robin P, Eline N.
    • Hered Cancer Clin Pract. 2022 Jan 31;20(1):5. doi: 10.1186/s13053-022-00211-7.
    • Molecular Features and Clinical Management of Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer.
    • Kasuga A, Okamoto T, Udagawa S, Mori C, Mie T, Furukawa T, Yamada Y, Takeda T, Matsuyama M, Sasaki T, Ozaka M, Ueki A, Sasahira N.
    • Int J Mol Sci. 2022 Jan 21;23(3):1205. doi: 10.3390/ijms23031205.
    • Genomic Correlates of Unfavorable Outcome in Locally Advanced Cervical Cancer Treated with Neoadjuvant Chemoradiation.
    • Wei Y, Wei C, Chen L, Liu N, Ou Q, Yin JC, Pang J, Fang Z, Wu X, Wang X, Mu D, Shao Y, Yu J, Yuan S.
    • Cancer Res Treat. 2022 Jan 17. doi: 10.4143/crt.2021.963. Epub ahead of print.
    • Case Report: Effectiveness of Targeted Treatment in a Patient With Pancreatic Cancer Harboring PALB2 Germline Mutation and KRAS Somatic Mutation.
    • Wu W, Liu Y, Jin Y, Liu L, Guo Y, Xu M, Hao Q, Li D, Fang W, Zhang A, Zhao P.
    • Front Med (Lausanne). 2022 Jan 13;8:746637. doi: 10.3389/fmed.2021.746637.
    • Associations of genetic susceptibility to 16 cancers with risk of breast cancer overall and by intrinsic subtypes.
    • Choi J, Jia G, Wen W, Tao R, Long J, Shu XO, Zheng W.
    • HGG Adv. 2021 Dec 10 [eCollection 2022 Jan 13];3(1):100077. doi: 10.1016/j.xhgg.2021.100077.
    • A whole-exome case-control association study to characterize the contribution of rare coding variation to pancreatic cancer risk.
    • Yu Y, Chang K, Chen JS, Bohlender RJ, Fowler J, Zhang D, Huang M, Chang P, Li Y, Wong J, Wang H, Gu J, Wu X, Schildkraut J, Cannon-Albright L, Ye Y, Zhao H, Hildebrandt MAT, Permuth JB, Li D, Scheet P, Huff CD.
    • HGG Adv. 2021 Dec 10 [eCollection 2022 Jan 13];3(1):100078. doi: 10.1016/j.xhgg.2021.100078.
    • Next-Generation Sequencing Reveals a Very Low Prevalence of Deleterious Mutations of Homologous Recombination Repair Genes and Homologous Recombination Deficiency in Ovarian Clear Cell Carcinoma.
    • Liu H, Zhang Z, Chen L, Pang J, Wu H, Liang Z.
    • Front Oncol. 2022 Jan 12;11:798173. doi: 10.3389/fonc.2021.798173.
    • Comprehensive Analysis of Somatic Reversion Mutations in Homologous Recombination Repair (HRR) Genes in A Large Cohort of Chinese Pan-cancer Patients.
    • Zong H, Zhang J, Xu Z, Pan JN, Wang R, Han J, Jiang M, Ren R, Zang L, Wang H, Cao WM.
    • J Cancer. 2022 Jan 9;13(4):1119-1129. doi: 10.7150/jca.65650.
    • Identification and Characterization of an Exonic Duplication in PALB2 in a Man with Synchronous Breast and Prostate Cancer.
    • Bouras A, Lafaye C, Leone M, Kherraf ZE, Martin-Denavit T, Fert-Ferrer S, Calender A, Boutry-Kryza N.
    • Int J Mol Sci. 2022 Jan 8;23(2):667. doi: 10.3390/ijms23020667.
    • BRCA 1/2 Germline Mutation Predicts the Treatment Response of FOLFIRINOX with Pancreatic Ductal Adenocarcinoma in Korean Patients.
    • Park JH, Jo JH, Jang SI, Chung MJ, Park JY, Bang S, Park SW, Song SY, Lee HS, Cho JH.
    • Cancers (Basel). 2022 Jan 4;14(1):236. doi: 10.3390/cancers14010236.
    • Landscape of homologous recombination deficiencies in solid tumours: analyses of two independent genomic datasets.
    • Lai Z, Brosnan M, Sokol ES, Xie M, Dry JR, Harrington EA, Barrett JC, Hodgson D.
    • BMC Cancer. 2022 Jan 3;22(1):13. doi: 10.1186/s12885-021-09082-y.
    • Response to olaparib in metastatic lung adenocarcinoma with germline BRCA2 mutation: a case report.
    • Wu C, Fan M, Hu Y.
    • Anticancer Drugs. 2022 Jan 1;33(1):e734-e737. doi: 10.1097/CAD.0000000000001160.
    • Case report
    • Association of BRCA Mutations and Pancreatic Cancer: Review of Literature and Meta-analysis.
    • Chandan S, Deliwala SS, Facciorusso A, Mohan BP, Ramai D, Kochhar GS.
    • Pancreas. 2022 Jan 1;51(1):e8-e10. doi: 10.1097/MPA.0000000000001956.
    • Meta-Analysis
    • Germline Variants in DNA Damage Repair Genes: An Emerging Role in the Era of Precision Medicine in Pancreatic Adenocarcinoma.
    • Shoucair S, Baker AR, Yu J.
    • Ann Gastroenterol Surg. 2021 Sep 29 [2022 Jan];6(1):7-16. doi: 10.1002/ags3.12514. eCollection 2022 Jan.
    • Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes.
    • Garcia-Pelaez J, Barbosa-Matos R, São José C, Sousa S, Gullo I, Hoogerbrugge N, Carneiro F, Oliveira C.
    • Eur J Med Genet. 2022 Jan;65(1):104401. doi: 10.1016/j.ejmg.2021.104401. Epub 2021 Dec 3.
    • Review
    • Refining targeted therapeutic approaches in pancreatic cancer: from histology and molecular pathology to the clinic.
    • Mattiolo P, Kryklyva V, Brosens LA, Mafficini A, Lawlor RT, Milella M, Scarpa A, Corbo V, Luchini C.
    • Expert Opin Ther Targets. 2022 Jan;26(1):1-4. doi: 10.1080/14728222.2022.2021397. Epub 2021 Dec 30.
    • Familial Predisposition and Genetic Risk Factors Associated with Pancreatic Cancer.
    • Rustgi SD, Hilfrank KJ, Kastrinos F.
    • Gastrointest Endosc Clin N Am. 2022 Jan;32(1):1-12. doi: 10.1016/j.giec.2021.09.001.
    • Review
    • Genetic Syndromes Associated with Gastric Cancer.
    • Kim W, Kidambi T, Lin J, Idos G.
    • Gastrointest Endosc Clin N Am. 2022 Jan;32(1):147-162. doi: 10.1016/j.giec.2021.08.004.
    • Review
    • Probability of detecting germline BRCA1/2 pathogenic variants in histological subtypes of ovarian carcinoma. A meta-analysis.
    • Witjes VM, van Bommel MHD, Ligtenberg MJL, Vos JR, Mourits MJE, Ausems MGEM, de Hullu JA, Bosse T, Hoogerbrugge N.
    • Gynecol Oncol. 2022 Jan;164(1):221-230. doi: 10.1016/j.ygyno.2021.10.072. Epub 2021 Oct 23.
    • Prevalence of BRCA1 and BRCA2 pathogenic sequence variants in ovarian cancer patients in the Gulf region: the PREDICT study.
    • Azribi F, Abdou E, Dawoud E, Ashour M, Kamal A, Al Sayed M, Burney I.
    • BMC Cancer. 2021 Dec 20;21(1):1350. doi: 10.1186/s12885-021-09094-8.
    • So-Called Serous Carcinoma of the Uterine Cervix with BRCA2 Mutation: Case Report and Review of the Literature.
    • Herrera Gómez RG, Hastir D, Liapi A, Dolcan A, Herrera FG, Mathevet P, Sarivalasis A.
    • Case Rep Oncol. 2021 Dec 20;14(3):1792-1798. doi: 10.1159/000520429.
    • Frequency of Mismatch Repair Deficiency/High Microsatellite Instability and Its Role as a Predictive Biomarker of response to Immune Checkpoint Inhibitors in Gynecologic Cancers.
    • Noh JJ, Kim MK, Choi MC, Lee JW, Park H, Jung SG, Joo WD, Song SH, Lee C.
    • Cancer Res Treat. 2021 Dec 13. doi: 10.4143/crt.2021.828. Epub ahead of print.
    • Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast.
    • Yadav S, Hu C, Nathanson KL, Weitzel JN, Goldgar DE, Kraft P, Gnanaolivu RD, Na J, Huang H, Boddicker NJ, Larson N, Gao C, Yao S, Weinberg C, Vachon CM, Trentham-Dietz A, Taylor JA, Sandler DR, Patel A, Palmer JR, Olson JE, Neuhausen S, Martinez E, Lindstrom S, Lacey JV, Kurian AW, John EM, Haiman C, Bernstein L, Auer PW, Anton-Culver H, Ambrosone CB, Karam R, Chao E, Yussuf A, Pesaran T, Dolinsky JS, Hart SN, LaDuca H, Polley EC, Domchek SM, Couch FJ.
    • J Clin Oncol. 2021 Dec 10;39(35):3918-3926. doi: 10.1200/JCO.21.00640. Epub 2021 Oct 21.
    • Pancreas cancer and BRCA: A critical subset of patients with improving therapeutic outcomes.
    • Momtaz P, O'Connor CA, Chou JF, Capanu M, Park W, Bandlamudi C, Berger MF, Kelsen DP, Suehnholz SP, Chakravarty D, Yu KH, Varghese AM, Zervoudakis A, Li J, Ku GY, Park JS, Shcherba M, Harding JJ, Goldberg Z, Abou-Alfa GK, Salo-Mullen EE, Stadler ZK, Iacobuzio-Donahue CA, O'Reilly EM.
    • Cancer. 2021 Dec 1;127(23):4393-4402. doi: 10.1002/cncr.33812. Epub 2021 Aug 5.
    • A risk prediction tool for individuals with a family history of breast, ovarian, or pancreatic cancer: BRCAPANCPRO.
    • Blackford AL, Childs EJ, Porter N, Petersen GM, Rabe KG, Gallinger S, Borgida A, Syngal S, Cote ML, Schwartz AG, Goggins MG, Hruban RH, Parmigiani G, Klein AP.
    • Br J Cancer. 2021 Dec;125(12):1712-1717. doi: 10.1038/s41416-021-01580-x. Epub 2021 Oct 26.
    • Germline Variants Identified in Patients with Early-onset Renal Cell Carcinoma Referred for Germline Genetic Testing.
    • Truong H, Sheikh R, Kotecha R, Kemel Y, Reisz PA, Lenis AT, Mehta NN, Khurram A, Joseph V, Mandelker D, Latham A, Ceyhan-Birsoy O, Ladanyi M, Shah NJ, Walsh MF, Voss MH, Lee CH, Russo P, Coleman JA, Hakimi AA, Feldman DR, Stadler ZK, Robson ME, Motzer RJ, Offit K, Patil S, Carlo MI.
    • Eur Urol Oncol. 2021 Dec;4(6):993-1000. doi: 10.1016/j.euo.2021.09.005. Epub 2021 Oct 12.
    • Durable clinical benefit from PARP inhibition in a platinum-sensitive, BRCA2-mutated pancreatic cancer patient after earlier progression on placebo treatment on the POLO trial: a case report.
    • Rubinson D, Wolpin BM, Warsofsky IS, Ryan DP, Perez K, Rahma O, Singh H, Yurgelun MB, Shapiro GI, Aguirre AJ, D'Andrea AD, Cleary JM.
    • J Gastrointest Oncol. 2021 Dec;12(6):3133-3140. doi: 10.21037/jgo-21-197.
    • Retroperitoneal leiomyosarcoma in a female patient with a germline splicing variant RAD51D c.904-2A > T: a case report.
    • Futagawa M, Yamamoto H, Kochi M, Urakawa Y, Sogawa R, Kato F, Okazawa-Sakai M, Ennishi D, Shinozaki K, Inoue H, Yanai H, Hirasawa A.
    • Hered Cancer Clin Pract. 2021 Nov 27;19(1):48. doi: 10.1186/s13053-021-00205-x.
    • Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation.
    • Jia X, Zhao S, Li X, Lv L, Chen X, Pan E, Ou Q, Song C, Sun S, Zhao J, Xu L, Li M.
    • Onco Targets Ther. 2021 Nov 27;14:5353-5360. doi: 10.2147/OTT.S334847.
    • BRCA1/2 Mutation Types Do Not Affect Prognosis in Ovarian Cancer Patients.
    • Liontos M, Zografos E, Zoumpourlis P, Andrikopoulou A, Svarna A, Fiste O, Kunadis E, Papatheodoridi AM, Kaparelou M, Koutsoukos K, Thomakos N, Haidopoulos D, Rodolakis A, Dimopoulos MA, Zagouri F.
    • Curr Oncol. 2021 Nov 3;28(6):4446-4456. doi: 10.3390/curroncol28060377.
    • Germline DNA damage repair gene mutations in pancreatic cancer patients with personal/family histories of pancreas/breast/ovarian/prostate cancer in a Japanese population.
    • Hata T, Mizuma M, Motoi F, Ishida M, Ohtsuka H, Nakagawa K, Morikawa T, Furukawa T, Unno M.
    • Ann Gastroenterol Surg. 2021 Jun 28;5(6):853-864. doi: 10.1002/ags3.12482. eCollection 2021 Nov.
    • BRCA-mutant pancreatic ductal adenocarcinoma.
    • Lai E, Ziranu P, Spanu D, Dubois M, Pretta A, Tolu S, Camera S, Liscia N, Mariani S, Persano M, Migliari M, Donisi C, Demurtas L, Pusceddu V, Puzzoni M, Scartozzi M.
    • Br J Cancer. 2021 Nov;125(10):1321-1332. doi: 10.1038/s41416-021-01469-9. Epub 2021 Jul 14.
    • Review
    • Novel Models of Genetic Education and Testing for Pancreatic Cancer Interception: Preliminary Results from the GENERATE Study.
    • Furniss CS, Yurgelun MB, Ukaegbu C, Constantinou PE, Lafferty CC, Talcove-Berko ER, Schwartz AN, Stopfer JE, Underhill-Blazey M, Kenner B, Nelson SH, Okumura S, Law S, Zhou AY, Coffin TB, Rodriguez NJ, Uno H, Ocean AJ, McAllister F, Lowy AM, Lippman SM, Klein AP, Madlensky L, Petersen GM, Garber JE, Goggins MG, Maitra A, Syngal S.
    • Cancer Prev Res (Phila). 2021 Nov;14(11):1021-1032. doi: 10.1158/1940-6207.CAPR-20-0642. Epub 2021 Oct 8.
    • Concomitant diagnosis of endometrial and breast cancer - does the sequence matters?
    • Stern T, Peleg Hasson S, Saad A, Levanon K, Michaan N, Laskov I, Wolf I, Safra T.
    • Gynecol Oncol Rep. 2021 Sep 20;38:100863. doi: 10.1016/j.gore.2021.100863. eCollection 2021 Nov.
    • Discordant Reporting of a Previously Undescribed Pathogenic Germline BRCA2 Variant in Blood and Tumor Tissue in a Patient With Pancreatic Adenocarcinoma.
    • Kordes M, Tamborero D, Lagerstedt-Robinson K, Yachnin J, Rosenquist R, Löhr JM, Gustafsson Liljefors M.
    • JCO Precis Oncol. 2021 Nov;5:974-980. doi: 10.1200/PO.21.00024.
    • Up-Front Multigene Panel Testing for Cancer Susceptibility in Patients With Newly Diagnosed Endometrial Cancer: A Multicenter Prospective Study.
    • Levine MD, Pearlman R, Hampel H, Cosgrove C, Cohn D, Chassen A, Suarez A, Barrington DA, McElroy JP, Waggoner S, Nakayama J, Billingsley C, Resnick K, Andrews S, Singh S, Jenison E, Clements A, Neff R, Goodfellow PJ; Ohio Prevention and Treatment of Endometrial Cancer Initiative Study Group.
    • JCO Precis Oncol. 2021 Nov;5:1588-1602. doi: 10.1200/PO.21.00249.
    • Do BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?
    • Stempa K, Wokolorczyk D, Kluzniak W, Rogoza-Janiszewska E, Malinska K, Rudnicka H, Huzarski T, Gronwald J, Gliniewicz K, Debniak T, Jakubowska A, Lener M, Tomiczek-Szwiec J, Domagala P, Suszynska M, Kozlowski P, Kluz T, Naczk M, Lubinski J, Narod SA, Akbari MR, Cybulski C, On Behalf Of The Polish Hereditary Prostate Cancer Consortium.
    • Cancers (Basel). 2021 Oct 30;13(21):5464. doi: 10.3390/cancers13215464.
    • Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis.
    • Karin W, Håkan T, Daniel N, Emma T.
    • Hered Cancer Clin Pract. 2021 Oct 28;19(1):46. doi: 10.1186/s13053-021-00203-z.
    • Detection of BRCA1/2 Mutation and Analysis of Clinicopathological Characteristics in 141 Cases of Ovarian Cancer.
    • Li L, Chen F, Lin A, Wang D, Shi Y, Chen G.
    • Comput Math Methods Med. 2021 Oct 21;2021:4854282. doi: 10.1155/2021/4854282.
    • Association Between Hereditary Lobular Breast Cancer Due to CDH1 Variants and Gastric Cancer Risk.
    • Gamble LA, Rossi A, Fasaye GA, Kesserwan C, Hernandez JM, Blakely AM, Davis JL.
    • JAMA Surg. 2021 Oct 13. doi: 10.1001/jamasurg.2021.5118. Epub ahead of print.
    • Targeting BRCA and DNA Damage Repair Genes in GI Cancers: Pathophysiology and Clinical Perspectives.
    • Zimmer K, Kocher F, Puccini A, Seeber A.
    • Front Oncol. 2021 Oct 11;11:662055. doi: 10.3389/fonc.2021.662055.
    • Clinical Impact of Pathogenic Germline Variants in Pancreatic Cancer: Results From a Multicenter, Prospective, Universal Genetic Testing Study.
    • Uson PLS Jr, Samadder NJ, Riegert-Johnson D, Boardman L, Borad MJ, Ahn D, Sonbol MB, Faigel DO, Fukami N, Pannala R, Kunze K, Golafshar M, Klint M, Esplin ED, Nussbaum RL, Stewart AK, Bekaii-Saab T.
    • Clin Transl Gastroenterol. 2021 Oct 8;12(10):e00414. doi: 10.14309/ctg.0000000000000414.
    • Case Report: A Pancreatic Ductal Adenocarcinoma Patient With Concurrent Targetable Somatic Novel KANK1-ALK, UPP2-NTRK3 Fusion, and Pathogenetic Germline BRCA Mutation.
    • Meng F, Lu L, Tan Y, Duan Q, Lu H.
    • Front Oncol. 2021 Oct 4;11:757965. doi: 10.3389/fonc.2021.757965.
    • Pancreatic Acinar Cell Carcinoma with Germline BRCA2 Mutation and Severe Pancreatic Panniculitis: A Case Report.
    • Dreikhausen L, Schulte N, Belle S, Weidner P, Moersdorf J, Reissfelder C, Ebert MP, Zhan T.
    • Visc Med. 2021 Oct;37(5):447-450. doi: 10.1159/000515267. Epub 2021 Mar 29.
    • Case report
    • Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing.
    • Wang Y, Golesworthy B, Cuggia A, Domecq C, Chaudhury P, Barkun J, Metrakos P, Asselah J, Bouganim N, Gao ZH, Chong G, Foulkes WD, Zogopoulos G.
    • J Med Genet. 2021 Sep 23:jmedgenet-2021-108054. doi: 10.1136/jmedgenet-2021-108054. Epub ahead of print.
    • Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasms.
    • Elbracht M, Meyer R, Kricheldorf K, Gezer D, Thomas E, Betz B, Kurth I, Teichmann LL, Brümmendorf TH, Germing U, Isfort S, Koschmieder S.
    • Blood Adv. 2021 Sep 14;5(17):3373-3376. doi: 10.1182/bloodadvances.2021004811.
    • Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.
    • Wieme G, Kral J, Rosseel T, Zemankova P, Parton B, Vocka M, Van Heetvelde M, Kleiblova P, Blaumeiser B, Soukupova J, van den Ende J, Nehasil P, Tejpar S, Borecka M, Gómez García EB, Blok MJ, Safarikova M, Kalousova M, Geboes K, De Putter R, Poppe B, De Leeneer K, Kleibl Z, Janatova M, Claes KBM.
    • Cancers (Basel). 2021 Sep 2;13(17):4430. doi: 10.3390/cancers13174430.
    • Hereditary pancreatic cancer.
    • Abe K, Kitago M, Kitagawa Y, Hirasawa A.
    • Int J Clin Oncol. 2021 Sep 2. doi: 10.1007/s10147-021-02015-6. Epub ahead of print.
    • Maximizing cancer prevention through genetic navigation for Lynch syndrome detection in women with newly diagnosed endometrial and nonserous/nonmucinous epithelial ovarian cancer.
    • Kim SR, Tone A, Kim RH, Cesari M, Clarke BA, Eiriksson L, Hart TL, Aronson M, Holter S, Lytwyn A, Maganti M, Oldfield L, Gallinger S, Bernardini MQ, Oza AM, Djordjevic B, Lerner-Ellis J, Van de Laar E, Vicus D, Pugh TJ, Pollett A, Ferguson SE.
    • Cancer. 2021 Sep 1;127(17):3082-3091. doi: 10.1002/cncr.33625. Epub 2021 May 13.
    • Homologous Recombination Deficiency Alterations in Colorectal Cancer: Clinical, Molecular, and Prognostic Implications.
    • Moretto R, Elliott A, Zhang J, Arai H, Germani MM, Conca V, Xiu J, Stafford P, Oberley M, Abraham J, Spetzler D, Rossini D, Antoniotti C, Marshall J, Shields A, Lopes G, Lonardi S, Pietrantonio F, Tomasello G, Passardi A, Tamburini E, Santini D, Aprile G, Masi G, Falcone A, Lenz HJ, Korn M, Cremolini C.
    • J Natl Cancer Inst. 2021 Sep 1:djab169. doi: 10.1093/jnci/djab169. Epub ahead of print.

    Research news:

    Are Homologous Recombination Deficiency Mutations Relevant in Colorectal Cancer?

    • Olaparib effectively treats local recurrence of extrahepatic cholangiocarcinoma in a patient harboring a BRCA2-inactivating mutation: a case report.
    • Li W, Ma Z, Fu X, Hao Z, Shang H, Shi J, Lei M, Xu M, Ning S, Hua X.
    • Ann Transl Med. 2021 Sep;9(18):1487. doi: 10.21037/atm-21-3681.
    • Lynch syndrome-associated epithelial ovarian cancer and its immunological profile.
    • Rasmussen M, Lim K, Rambech E, Andersen MH, Svane IM, Andersen O, Jensen LH, Nilbert M, Therkildsen C.
    • Gynecol Oncol. 2021 Sep;162(3):686-693. doi: 10.1016/j.ygyno.2021.07.001. Epub 2021 Jul 16.
    • Novel LRRK2 mutations and other rare, non-BAP1-related candidate tumor predisposition gene variants in high-risk cancer families with mesothelioma and other tumors.
    • Cheung M, Kadariya Y, Sementino E, Hall MJ, Cozzi I, Ascoli V, Ohar JA, Testa JR.
    • Hum Mol Genet. 2021 Aug 28;30(18):1750-1761. doi: 10.1093/hmg/ddab138.
    • Targeting DNA Damage Repair Mechanisms in Pancreas Cancer.
    • Perkhofer L, Golan T, Cuyle PJ, Matysiak-Budnik T, Van Laethem JL, Macarulla T, Cauchin E, Kleger A, Beutel AK, Gout J, Stenzinger A, Van Cutsem E, Bellmunt J, Hammel P, O'Reilly EM, Seufferlein T.
    • Cancers (Basel). 2021 Aug 24;13(17):4259. doi: 10.3390/cancers13174259.
    • Synchronous detection of pancreatic adenocarcinoma and paraganglioma in a Whipple resection specimen.
    • Aaquist T, Dembic M, Thomassen M, de Stricker K, Bertelsen M, Christensen LG, Mortensen MB, Detlefsen S.
    • Pathol Res Pract. 2021 Aug 17;226:153590. doi: 10.1016/j.prp.2021.153590. Epub ahead of print.
    • Therapeutic Potential of PARP Inhibitors in the Treatment of Gastrointestinal Cancers.
    • Alhusaini A, Cannon A, Maher SG, Reynolds JV, Lynam-Lennon N.
    • Biomedicines. 2021 Aug 16;9(8):1024. doi: 10.3390/biomedicines9081024.
    • Double Heterozygous Mutations in the BRCA2 and ATM Genes: A Case Report and Review of the Literature.
    • Duzkale Teker N, Eyerci N.
    • Breast Care (Basel). 2021 Aug;16(4):412-417. doi: 10.1159/000511430. Epub 2020 Oct 29.
    • Case report
    • Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: looking over the hedge.
    • Bono M, Fanale D, Incorvaia L, Cancelliere D, Fiorino A, Calò V, Dimino A, Filorizzo C, Corsini LR, Brando C, Madonia G, Cucinella A, Scalia R, Barraco N, Guadagni F, Pedone E, Badalamenti G, Russo A, Bazan V.
    • ESMO Open. 2021 Aug;6(4):100235. doi: 10.1016/j.esmoop.2021.100235. Epub 2021 Aug 7.
    • A systematic review of the prevalence of germline pathogenic variants in patients with pancreatic cancer.
    • Astiazaran-Symonds E, Goldstein AM.
    • J Gastroenterol. 2021 Aug;56(8):713-721. doi: 10.1007/s00535-021-01806-y. Epub 2021 Jul 13.
    • Review
    • Identifying Sequence Variants of 18 Hereditary Ovarian Cancer-Associated Genes in Chinese Epithelial Ovarian Cancer Patients.
    • Wu X, Chen Z, Ren P, Zhao X, Tang D, Geng H, Xu X, Zhao W.
    • Biomed Res Int. 2021 Jul 24;2021:5579543. doi: 10.1155/2021/5579543.
    • BRCA mutations and gastrointestinal cancers: When to expect the unexpected?
    • Maccaroni E, Giampieri R, Lenci E, Scortichini L, Bianchi F, Belvederesi L, Brugiati C, Pagliaretta S, Ambrosini E, Berardi R.
    • World J Clin Oncol. 2021 Jul 24;12(7):565-580. doi: 10.5306/wjco.v12.i7.565.
    • A Novel Germline Compound Heterozygous Mutation of BRCA2 Gene Associated with Familial Peripheral Neuroblastic Tumors in Two Siblings.
    • Yang Y, Chen J, Qin H, Jin Y, Zhang L, Yang S, Wang H, Fu L, Hong E, Yu Y, Lu J, Chang Y, Ni X, Xu M, Shi T, Guo Y.
    • Front Genet. 2021 Jul 23;12:652718. doi: 10.3389/fgene.2021.652718.
    • Clinicopathological characterization of a real-world multicenter cohort of endometrioid ovarian carcinoma: Analysis of the French national ESME-Unicancer database.
    • De Nonneville A, Zemmour C, Frank S, Joly F, Ray-Coquard I, Costaz H, Classe JM, Floquet A, De la Motte Rouge T, Colombo PE, Sauterey B, Leblanc E, Pomel C, Marchal F, Barranger E, Savoye AM, Guillemet C, Petit T, Pautier P, Rouzier R, Gladieff L, Simon G, Courtinard C, Sabatier R.
    • Gynecol Oncol. 2021 Jul 19:S0090-8258(21)00581-3. doi: 10.1016/j.ygyno.2021.07.019. Epub ahead of print.
    • High-grade serous ovarian carcinoma and detection of inactivated BRCA genes from biopsy material of Slovak patients.
    • Janíková K, Vánová B, Grendár M, Samec M, Líšková A, Loderer D, Kašubová I, Farkašová A, Scheerova K, Slávik P, Lasabová Z, Danková Z, Plank L.
    • Neoplasma. 2021 Jul 14:210226N256. doi: 10.4149/neo_2021_210226N256. Epub ahead of print.
    • Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
    • Bhai P, Levy MA, Rooney K, Carere DA, Reilly J, Kerkhof J, Volodarsky M, Stuart A, Kadour M, Panabaker K, Schenkel LC, Lin H, Ainsworth P, Sadikovic B.
    • Front Genet. 2021 Jul 13;12:698595. doi: 10.3389/fgene.2021.698595.
    • The germline/somatic DNA damage repair gene mutations modulate the therapeutic response in Chinese patients with advanced pancreatic ductal adenocarcinoma.
    • Shui L, Li X, Peng Y, Tian J, Li S, He D, Li A, Tian B, Li M, Gao H, An N, Yi C, Cao D.
    • J Transl Med. 2021 Jul 12;19(1):301. doi: 10.1186/s12967-021-02972-6.
    • Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer.
    • Johnatty SE, Pesaran T, Dolinsky J, Yussuf A, La Duca H, James PA, Mara TAO, Spurdle AB.
    • Hum Mutat. 2021 Jul 10. doi: 10.1002/humu.24256. Epub ahead of print.
    • Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location.
    • Sekine M, Nishino K, Enomoto T.
    • Genes (Basel). 2021 Jul 8;12(7):1050. doi: 10.3390/genes12071050.
    • Endometrial Cancer, BRCA1, and BRCA2 in the UK Biobank Cohort.
    • Lehrer S, Rheinstein PH.
    • Am J Clin Oncol. 2021 Jul 1;44(7):299-300. doi: 10.1097/COC.0000000000000833.
    • Prevalence of Germline Alterations on Targeted Tumor-Normal Sequencing of Esophagogastric Cancer.
    • Ku GY, Kemel Y, Maron SB, Chou JF, Ravichandran V, Shameer Z, Maio A, Won ES, Kelsen DP, Ilson DH, Capanu M, Strong VE, Molena D, Sihag S, Jones DR, Coit DG, Tuvy Y, Cowie K, Solit DB, Schultz N, Hechtman JF, Offit K, Joseph V, Mandelker D, Janjigian YY, Stadler ZK.
    • JAMA Netw Open. 2021 Jul 1;4(7):e2114753. doi: 10.1001/jamanetworkopen.2021.14753.

    Commentary:

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

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

    • Homologous Recombination Deficiency in Pancreatic Cancer: A Systematic Review and Prevalence Meta-Analysis.
    • Casolino R, Paiella S, Azzolina D, Beer PA, Corbo V, Lorenzoni G, Gregori D, Golan T, Braconi C, Froeling FEM, Milella M, Scarpa A, Pea A, Malleo G, Salvia R, Bassi C, Chang DK, Biankin AV.
    • J Clin Oncol. 2021 Jul 1:JCO2003238. doi: 10.1200/JCO.20.03238. Epub ahead of print.
    • Rare BRCA2 Mutation and MSI-H in Male Patient with Aggressive Stage III Colorectal Cancer, Case Report and Literature Review.
    • Ghimpau V, Ungureanu BS, Gheonea DI, Lungulescu C, Lungulescu CV.
    • Curr Health Sci J. 2021 Jul-Sep;47(3):451-456. doi: 10.12865/CHSJ.47.03.18. Epub 2021 Sep 30.
    • Malignant salivary gland tumours in families with breast cancer susceptibility.
    • Ripamonti CB, Bossi P, Manoukian S, Locati L, Colombo M, Carcangiu ML, Vingiani A, Licitra L, Radice P.
    • Virchows Arch. 2021 Jul;479(1):221-226. doi: 10.1007/s00428-021-03105-6. Epub 2021 Jun 8.
    • Case report
    • Remarkable Response to Olaparib in a Patient with Combined Hepatocellular-Cholangiocarcinoma Harboring a Biallelic BRCA2 Mutation.
    • Su YL, Ng CT, Jan YH, Hsieh YL, Wu CL, Tan KT.
    • Onco Targets Ther. 2021 Jun 29;14:3895-3901. doi: 10.2147/OTT.S317514.
    • Reliability of Tumor Testing Compared to Germline Testing for Detecting BRCA1 and BRCA2 Mutations in Patients with Epithelial Ovarian Cancer.
    • Bekos C, Grimm C, Kranawetter M, Polterauer S, Oberndorfer F, Tan Y, Müllauer L, Singer CF.
    • J Pers Med. 2021 Jun 24;11(7):593. doi: 10.3390/jpm11070593.
    • Implications of targeted next-generation sequencing for bladder cancer: report of four cases.
    • Khalifa MK, Bakr NM, Ramadan A, Abd Elwahab KM, Desoky E, Nageeb AM, Swellam M.
    • J Genet Eng Biotechnol. 2021 Jun 21;19(1):91. doi: 10.1186/s43141-021-00182-7.
    • Ovarian Cancer: Biomarkers and Targeted Therapy.
    • Radu MR, Pradatu A, Duica F, Micu R, Cretoiu SM, Suciu N, Cretoiu D, Varlas VN, Radoi VE.
    • Biomedicines. 2021 Jun 18;9(6):693. doi: 10.3390/biomedicines9060693.
    • A subset of lung cancer cases shows robust signs of homologous recombination deficiency associated genomic mutational signatures.
    • Diossy M, Sztupinszki Z, Borcsok J, Krzystanek M, Tisza V, Spisak S, Rusz O, Timar J, Csabai I, Fillinger J, Moldvay J, Pedersen AG, Szuts D, Szallasi Z.
    • NPJ Precis Oncol. 2021 Jun 18;5(1):55. doi: 10.1038/s41698-021-00199-8.
    • Genetic testing for assessment of lynch syndrome in young patients with polyps.
    • Laish I, Goldberg Y, Friedman E, Kedar I, Katz L, Levi Z, Gingold-Belfer R, Kopylov U, Feldman D, Levi-Reznick G, Half E.
    • Dig Liver Dis. 2021 Jun 17:S1590-8658(21)00305-4. doi: 10.1016/j.dld.2021.05.031. Epub ahead of print.
    • Is Universal Next-Generation Sequencing Testing of Patients With Advanced Cancer Ready for Prime Time?
    • Dunn C, Gately L, Gibbs P.
    • JAMA Oncol. 2021 Jun 17. doi: 10.1001/jamaoncol.2021.1904. Epub ahead of print.
    • Letter, Comment

    Letter, Reply:

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

    Original research:

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

    • Impact of changing guidelines on genetic testing and surveillance recommendations in a contemporary cohort of breast cancer survivors with family history of pancreatic cancer.
    • Wang A, Everett JN, Chun J, Cen C, Simeone DM, Schnabel F.
    • Sci Rep. 2021 Jun 14;11(1):12491. doi: 10.1038/s41598-021-91971-0.
    • Family history of early onset acute lymphoblastic leukemia is suggesting genetic associations.
    • Li X, Sundquist K, Sundquist J, Försti A, Hemminki K.
    • Sci Rep. 2021 Jun 11;11(1):12370. doi: 10.1038/s41598-021-90542-7.
    • Patterns and Prevalence of BRCA1 and BRCA2 Germline Mutations Among Patients with Triple-Negative Breast Cancer: Regional Perspectives.
    • Abdel-Razeq H, Tamimi F, Abujamous L, Edaily S, Abunasser M, Bater R, Salama O.
    • Cancer Manag Res. 2021 Jun 9;13:4597-4604. doi: 10.2147/CMAR.S316470.
    • Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications.
    • Laish I, Friedman E, Levi-Reznick G, Kedar I, Katz L, Levi Z, Halpern N, Parnasa S, Abu-Shatya A, Half E, Goldberg Y.
    • Breast Cancer Res Treat. 2021 Jun 4. doi: 10.1007/s10549-021-06258-9. Epub ahead of print.
    • Mutational spectrum in clinically aggressive low-grade serous carcinoma/serous borderline tumors of the ovary-Clinical significance of BRCA2 gene variants in genomically stable tumors.
    • Zhang X, Devins K, Ko EM, Reyes MC, Simpkins F, Drapkin R, Schwartz LE, Yoon JY.
    • Gynecol Oncol. 2021 Jun;161(3):762-768. doi: 10.1016/j.ygyno.2021.03.019. Epub 2021 Mar 24.
    • Combined modality therapy including cytoreductive surgery and heated intraperitoneal chemotherapy for synchronous low volume peritoneal carcinomatosis from adenocarcinoma of the tail of pancreas in a BRCA-2 carrier resulting in long-term disease-free survival: A case report.
    • Hoefer RA, Obiora C, Azab B, Harden EA, Kessler JF.
    • Int J Surg Case Rep. 2021 Jun;83:106047. doi: 10.1016/j.ijscr.2021.106047. Epub 2021 May 29.
    • Prevalence of BRCA1 and BRCA2 Mutations Among Patients With Ovarian, Primary Peritoneal, and Fallopian Tube Cancer in India: A Multicenter Cross-Sectional Study.
    • Gupta S, Rajappa S, Advani S, Agarwal A, Aggarwal S, Goswami C, Palanki SD, Arya D, Patil S, Kodagali R.
    • JCO Glob Oncol. 2021 Jun;7:849-861. doi: 10.1200/GO.21.00051.
    • Comprehensive analysis of DNA damage repair genes reveals pathogenic variants beyond BRCA and suggests the need for extensive genetic testing in pancreatic cancer.
    • Rapposelli IG, Zampiga V, Cangini I, Arcangeli V, Ravegnani M, Valgiusti M, Pini S, Tamberi S, Bartolini G, Passardi A, Martinelli G, Calistri D, Frassineti GL, Falcini F, Danesi R.
    • BMC Cancer. 2021 May 26;21(1):611. doi: 10.1186/s12885-021-08368-5.
    • Efficacy and safety of rucaparib in previously treated, locally advanced or metastatic urothelial carcinoma from a phase 2, open-label trial (ATLAS).
    • Grivas P, Loriot Y, Morales-Barrera R, Teo MY, Zakharia Y, Feyerabend S, Vogelzang NJ, Grande E, Adra N, Alva A, Necchi A, Rodriguez-Vida A, Gupta S, Josephs DH, Srinivas S, Wride K, Thomas D, Simmons A, Loehr A, Dusek RL, Nepert D, Chowdhury S.
    • BMC Cancer. 2021 May 24;21(1):593. doi: 10.1186/s12885-021-08085-z.
    • Germline mutations in a clinic-based series of pregnancy associated breast cancer patients.
    • Zografos E, Korakiti AM, Andrikopoulou A, Rellias I, Dimitrakakis C, Marinopoulos S, Giannos A, Keramopoulos A, Bredakis N, Dimopoulos MA, Zagouri F.
    • BMC Cancer. 2021 May 19;21(1):572. doi: 10.1186/s12885-021-08310-9.
    • Frequency of CDH1 Germline Mutations in Non-Gastric Cancers.
    • Massari G, Magnoni F, Favia G, Peradze N, Veronesi P, La Vecchia C, Corso G.
    • Cancers (Basel). 2021 May 12;13(10):2321. doi: 10.3390/cancers13102321.
    • Identification of BRCA1:c.5470_5477del as a Founder Mutation in Chinese Ovarian Cancer Patients.
    • Li J, Han S, Zhang C, Luo Y, Wang L, Wang P, Wang Y, Xia Q, Wang X, Wei B, Ma J, Li H, Guo Y.
    • Front Oncol. 2021 May 11;11:655709. doi: 10.3389/fonc.2021.655709. Erratum in: Front Oncol. 2022 Jan 14;11:840551.

    Commentary:

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

    • BRCA mutated pancreatic cancer: A change is coming.
    • Rosen MN, Goodwin RA, Vickers MM.
    • World J Gastroenterol. 2021 May 7;27(17):1943-1958. doi: 10.3748/wjg.v27.i17.1943.
    • BRCA2 3'-UTR Polymorphism rs15869 Alters Susceptibility to Papillary Thyroid Carcinoma via Binding hsa-mir-1178-3p.
    • Guo N, Qu P, Li H, Liu L, Jin H, Liu R, Zhang Z, Zhang X, Li Y, Lu X, Zhao Y.
    • Pharmgenomics Pers Med. 2021 May 6;14:533-544. doi: 10.2147/PGPM.S300783.
    • A rectovaginal septum mass in a BRCA1 positive patient years after risk reducing surgery: A case report.
    • Blankenship L, Lyons YA, Dao Campi H, Valente PT, Barnes L, Kost ER.
    • Gynecol Oncol Rep. 2021 May 5;36:100772. doi: 10.1016/j.gore.2021.100772.
    • Germline Sequencing DNA Repair Genes in 5545 Men With Aggressive and Nonaggressive Prostate Cancer.
    • Darst BF, Dadaev T, Saunders E, Sheng X, Wan P, Pooler L, Xia LY, Chanock S, Berndt SI, Gapstur SM, Stevens V, Albanes D, Weinstein SJ, Gnanapragasam V, Giles GG, Nguyen-Dumont T, Milne RL, Pomerantz M, Schmidt JA, Mucci L, Catalona WJ, Hetrick KN, Doheny KF, MacInnis RJ, Southey MC, Eeles RA, Wiklund F, Kote-Jarai Z, Conti DV, Haiman CA.
    • J Natl Cancer Inst. 2021 May 4;113(5):616-625. doi: 10.1093/jnci/djaa132.
    • Molecular characterization of high-grade serous ovarian cancers occurring in younger and older women.
    • Filippova OT, Selenica P, Pareja F, Vahdatinia M, Zhu Y, Pei X, Riaz N, Long Roche K, Chi DS, Abu-Rustum NR, Ellenson LH, Reis-Filho JS, Zamarin D, Weigelt B.
    • Gynecol Oncol. 2021 May;161(2):545-552. doi: 10.1016/j.ygyno.2021.02.028. Epub 2021 Mar 3.
    • Single nucleotide polymorphisms in breast cancer susceptibility gene 1 are associated with susceptibility to lung cancer.
    • Liu D, Gao Y, Li L, Chen H, Bai L, Qu Y, Zhou B, Yan Y, Zhao Y.
    • Oncol Lett. 2021 May;21(5):424. doi: 10.3892/ol.2021.12685. Epub 2021 Mar 29.
    • The Efficacy of Combined Cisplatin and Nanoparticle Albumin-Bound Paclitaxel in a Stage IV Pancreatic Squamous Cell Carcinoma Patient With a Somatic BRCA2 Mutation: A Case Report.
    • Huang X, Wang C, Ma T, Huang Z, Zhou H, Xu L, Zhang R, Zhao J, Zhang Y, Huang Z, Shao L, Wang Y, Yang F, Che X.
    • Front Oncol. 2021 Apr 29;11:585983. doi: 10.3389/fonc.2021.585983.
    • Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review.
    • Pastorczak A, Krajewska K, Urbanska Z, Szmyd B, Salacinska-Los E, Kobos J, Mlynarski W, Trelinska J.
    • Fam Cancer. 2021 Apr 28. doi: 10.1007/s10689-021-00258-w. Epub ahead of print.
    • Complete pathological response to olaparib and bevacizumab in advanced cervical cancer following chemoradiation in a BRCA1 mutation carrier: a case report.
    • Montero-Macias R, Koual M, Crespel C, Le Frére-Belda MA, Hélène HB, Nguyen-Xuan HT, Garinet S, Perkins G, Balay V, Durdux C, Florin M, Péré H, Bats AS.
    • J Med Case Rep. 2021 Apr 23;15(1):210. doi: 10.1186/s13256-021-02767-9.
    • Olaparib Treatment in a Patient with Advanced Gallbladder Cancer Harboring BRCA1 Mutation.
    • Li X, Gao L, Qiu M, Cao D.
    • Onco Targets Ther. 2021 Apr 22;14:2815-2819. doi: 10.2147/OTT.S303594.
    • Disease Spectrum of Breast Cancer Susceptibility Genes.
    • Wang J, Singh P, Yin K, Zhou J, Bao Y, Wu M, Pathak K, McKinley SK, Braun D, Hughes KS.
    • Front Oncol. 2021 Apr 20;11:663419. doi: 10.3389/fonc.2021.663419.
    • Germline mutations and age at onset of lung adenocarcinoma.
    • Reckamp KL, Behrendt CE, Slavin TP, Gray SW, Castillo DK, Koczywas M, Cristea MC, Babski KM, Stearns D, Marcum CA, Rodriguez YP, Hass AJ, Vecchio MM, Mora P, Cervantes AE, Sand SR, Mejia RM, Tsou TC, Salgia R, Weitzel JN.
    • Cancer. 2021 Apr 15. doi: 10.1002/cncr.33573. Epub ahead of print.
    • DNA damage response and repair in pancreatic cancer development and therapy.
    • Rahnamay Farnood P, Danesh Pazhooh R, Asemi Z, Yousefi B.
    • DNA Repair (Amst). 2021 Apr 15;103:103116. doi: 10.1016/j.dnarep.2021.103116. Epub ahead of print.
    • Review
    • What Is New on Ovarian Carcinoma: Integrated Morphologic and Molecular Analysis Following the New 2020 World Health Organization Classification of Female Genital Tumors.
    • De Leo A, Santini D, Ceccarelli C, Santandrea G, Palicelli A, Acquaviva G, Chiarucci F, Rosini F, Ravegnini G, Pession A, Turchetti D, Zamagni C, Perrone AM, De Iaco P, Tallini G, de Biase D.
    • Diagnostics (Basel). 2021 Apr 14;11(4):697. doi: 10.3390/diagnostics11040697.
    • 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.
    • Cellular Mechanism of Gene Mutations and Potential Therapeutic Targets in Ovarian Cancer.
    • Guo T, Dong X, Xie S, Zhang L, Zeng P, Zhang L.
    • Cancer Manag Res. 2021 Apr 8;13:3081-3100. doi: 10.2147/CMAR.S292992.
    • Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
    • Kondrashova O, Shamsani J, O'Mara TA, Newell F, McCart Reed AE, Lakhani SR, Kirk J, Pearson JV, Waddell N, Spurdle AB.
    • Cancers (Basel). 2021 Apr 7;13(8):1762. doi: 10.3390/cancers13081762.
    • Malignant Phyllodes Tumor of the Breast: A Practice Review.
    • Fede ÂBS, Pereira Souza R, Doi M, De Brot M, Aparecida Bueno de Toledo Osorio C, Rocha Melo Gondim G, Casali-da-Rocha JC, Jbili R, Bitencourt AGV, Alves de Souza J, Caparica Bitton R, Baroni Alves Makdissi F, Moraes Sanches S.
    • Clin Pract. 2021 Apr 6;11(2):205-215. doi: 10.3390/clinpract11020030.
    • Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
    • Zeng B, Huang P, Du P, Sun X, Huang X, Fang X, Li L.
    • Front Oncol. 2021 Apr 6;11:637431. doi: 10.3389/fonc.2021.637431.
    • Chronic Lymphocytic Leukemia in Neurofibromatosis Type 1 Patients: Case Report and Literature Review of a Rare Occurrence.
    • Cohen PR.
    • Cureus. 2021 Apr 2;13(4):e14258. doi: 10.7759/cureus.14258.
    • 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.
    • Prevalence of pancreaticobiliary cancers in Irish families with pathogenic BRCA1 and BRCA2 variants.
    • Power R, Leavy C, Nolan C, White N, Clarke R, Cadoo KA, Gallagher DJ, Lowery MA.
    • Fam Cancer. 2021 Apr;20(2):97-101. doi: 10.1007/s10689-020-00205-1. Epub 2020 Sep 12.
    • 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.
    • Examination of ATM, BRCA1, and BRCA2 promoter methylation in patients with pancreatic cancer.
    • Zhou C, Porter N, Borges M, Gauthier C, Ferguson L, Huang B, Nanda N, He J, Laheru D, Hruban RH, Goggins M, Klein AP, Roberts NJ.
    • Pancreatology. 2021 Mar 28:S1424-3903(21)00109-5. doi: 10.1016/j.pan.2021.03.015. Epub ahead of print.
    • What’s Autism Got To Do With It?
    • [No author given]
    • My Gene Counsel. Genetic Journal. 2021 Mar 27.
    • The Prognostic and Predictive Role of Somatic BRCA Mutations in Ovarian Cancer: Results from a Multicenter Cohort Study.
    • Toss A, Piombino C, Tenedini E, Bologna A, Gasparini E, Tarantino V, Filieri ME, Cottafavi L, Giovanardi F, Madrigali S, Civallero M, Marcheselli L, Marchi I, Domati F, Venturelli M, Barbieri E, Grandi G, Tagliafico E, Cortesi L.
    • Diagnostics (Basel). 2021 Mar 21;11(3):565. doi: 10.3390/diagnostics11030565.
    • Tumour Versus Germline BRCA Testing in Ovarian Cancer: A Single-Site Institution Experience in the United Kingdom.
    • Akaev I, Rahimi S, Onifade O, Gardner FJE, Castells-Rufas D, Jones E, Acharige S, Yeoh CC.
    • Diagnostics (Basel). 2021 Mar 19;11(3):547. doi: 10.3390/diagnostics11030547.
    • The German National Case Collection for Familial Pancreatic Carcinoma (FaPaCa) / Knowledge Gained in 20 Years.
    • Bartsch DK, Matthäi E, Mintziras I, Bauer C, Figiel J, Sina-Boemers M, Gress TM, Langer P, Slater EP.
    • Dtsch Arztebl Int. 2021 Mar 5;118(Forthcoming):arztebl.m2021.0004. doi: 10.3238/arztebl.m2021.0004. Epub ahead of print.
    • Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.
    • Zimmermann MT, Mathison AJ, Stodola T, Evans DB, Abrudan JL, Demos W, Tschannen M, Aldakkak M, Geurts J, Lomberk G, Tsai S, Urrutia R.
    • Front Oncol. 2021 Mar 5;11:606820. doi: 10.3389/fonc.2021.606820.
    • The Importance of Learning Your Pancreatic Cancer Risk When Cancer Runs in Your Family.
    • Coffin T.
    • FORCE. Blog. 2021 Mar 2.
    • 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.
    • 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.
    • Ovarian cancer risk in Lynch syndrome: it's time to individualise.
    • Ring KL.
    • BJOG. 2021 Mar;128(4):737. doi: 10.1111/1471-0528.16481. Epub 2020 Sep 29.

    Original research:

    A mismatch in care: results of a United Kingdom-wide patient and clinician survey of gynaecological services for women with Lynch syndrome

    • Frequency of germline BRCA1/2 mutations and association with clinicopathological characteristics in Turkish women with epithelial ovarian cancer.
    • Sunar V, Korkmaz V, Topcu V, Cavdarli B, Arik Z, Ozdal B, Ustun YE.
    • Asia Pac J Clin Oncol. 2021 Feb 25. doi: 10.1111/ajco.13520. Epub ahead of print.
    • Application of Multilayer Evidence for Annotation of C-Terminal BRCA2 Variants.
    • Butz H, Papp J, Bozsik A, Krokker L, Pócza T, Oláh E, Patócs A.
    • Cancers (Basel). 2021 Feb 20;13(4):881. doi: 10.3390/cancers13040881.
    • Biologic behavior of resected BRCA-mutated pancreatic cancer: Comparison with sporadic pancreatic cancer and other BRCA-related cancers.
    • Kim SH, Hwang HK, Lee WJ, Kang CM.
    • Pancreatology. 2021 Feb 14:S1424-3903(21)00057-0. doi: 10.1016/j.pan.2021.02.007. Epub ahead of print.
    • Characteristics of BRCA1/2 pathogenic germline mutations in chinese NSCLC patients and a comparison with HBOC.
    • Xu Z, Wang Y, Wang L, Cui F, Zhang L, Xiong J, Peng H.
    • Hered Cancer Clin Pract. 2021 Feb 9;19(1):16. doi: 10.1186/s13053-021-00174-1.
    • 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.
    • De-novo acute myeloid leukemia in a BRCA positive female with locally treated ductal carcinoma In Situ.
    • Nabrinsky E, Masood F, AbdulMujeeb S, Asado N, Almanaseer I, Galvez A.
    • Leuk Res Rep. 2021 Feb 9;15:100237. doi: 10.1016/j.lrr.2021.100237.
    • Tumour-Agnostic Therapy for Pancreatic Cancer and Biliary Tract Cancer.
    • Kato S.
    • Diagnostics (Basel). 2021 Feb 6;11(2):252. doi: 10.3390/diagnostics11020252.
    • The RAD51D c.82G>A (p.Val28Met) variant disrupts normal splicing and is associated with hereditary ovarian cancer.
    • Yang C, Arnold AG, Catchings A, Rai V, Stadler ZK, Zhang L.
    • Breast Cancer Res Treat. 2021 Feb;185(3):869-877. doi: 10.1007/s10549-020-06066-7. Epub 2021 Jan 16.
    • Therapeutic Potential of Olaparib in Combination With Pembrolizumab in a Young Patient With a Maternally Inherited BRCA2 Germline Variant: A Research Report.
    • Waddington T, Mambetsariev I, Pharaon R, Fricke J, Baroz AR, Romo H, Ghanem B, Gray S, Salgia R.
    • Clin Lung Cancer. 2021 Jan 27:S1525-7304(21)00012-7. doi: 10.1016/j.cllc.2021.01.009. Epub ahead of print.
    • Case report
    • 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)

    • Incidence of the CHEK2 Germline Mutation and Its Impact on Clinicopathological Features, Treatment Responses, and Disease Course in Patients with Papillary Thyroid Carcinoma.
    • Gasior-Perczak D, Kowalik A, Gruszczynski K, Walczyk A, Siolek M, Palyga I, Trepka S, Mikina E, Trybek T, Kopczynski J, Suligowska A, Slusarczyk R, Gonet A, Jaskulski J, Orlowski P, Chrapek M, Gózdz S, Kowalska A.
    • Cancers (Basel). 2021 Jan 26;13(3):470. doi: 10.3390/cancers13030470.
    • Next-generation sequencing for identification of actionable gene mutations in intestinal-type sinonasal adenocarcinoma.
    • Sánchez-Fernández P, Riobello C, Costales M, Vivanco B, Cabal VN, García-Marín R, Suárez-Fernández L, López F, Cabanillas R, Hermsen MA, Llorente JL.
    • Sci Rep. 2021 Jan 26;11(1):2247. doi: 10.1038/s41598-020-80242-z.
    • Prevalence of mutations in BRCA and MMR genes in patients affected with hereditary endometrial cancer.
    • Vietri MT, D'Elia G, Caliendo G, Casamassimi A, Federico A, Passariello L, Cioffi M, Molinari AM.
    • Med Oncol. 2021 Jan 23;38(2):13. doi: 10.1007/s12032-021-01454-5.
    • BRCA1 and BRCA2 mutations in ovarian cancer patients from Belarus: update.
    • Savanevich A, Ashuryk O, Cybulski C, Lubinski J, Gronwald J.
    • Hered Cancer Clin Pract. 2021 Jan 21;19(1):13. doi: 10.1186/s13053-021-00169-y.
    • Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.
    • Scott TM, Campbell IM, Hernandez-Garcia A, Lalani SR, Liu P, Shaw CA, Rosenfeld JA, Scott DA.
    • J Med Genet. 2021 Jan 18:jmedgenet-2020-107317. doi: 10.1136/jmedgenet-2020-107317. Epub ahead of print.
    • Case report
    • Prevalence of pathogenic germline variants in patients with metastatic renal cell carcinoma.
    • Santos M, Lanillos J, Roldan-Romero JM, Caleiras E, Montero-Conde C, Cascón A, Climent MA, Anguera G, Hernando S, Laínez N, Robledo M, Robles L, de Velasco G, García-Donas J, Rodriguez-Antona C.
    • Genet Med. 2021 Jan 13. doi: 10.1038/s41436-020-01062-0. Epub ahead of print.
    • Diagnostic and therapeutic ERß, HER2, BRCA biomakers in the histological subtypes of lung adenocarcinoma according to the IASLC/ATS/ERS classification.
    • Zhong L, Zhang C, Jia W, Zhang P.
    • Ann Diagn Pathol. 2021 Jan 12;51:151700. doi: 10.1016/j.anndiagpath.2020.151700. Epub ahead of print.
    • Homologous Recombination Repair Mechanisms in Serous Endometrial Cancer.
    • Jönsson JM, Bååth M, Björnheden I, Sahin ID, Måsbäck A, Hedenfalk I.
    • Cancers (Basel). 2021 Jan 12;13(2):E254. doi: 10.3390/cancers13020254.
    • Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma.
    • Kim J, Light N, Subasri V, Young EL, Wegman-Ostrosky T, Barkauskas DA, Hall D, Lupo PJ, Patidar R, Maese LD, Jones K, Wang M, Tavtigian SV, Wu D, Shlien A, Telfer F, Goldenberg A, Skapek SX, Wei JS, Wen X, Catchpoole D, Hawkins DS, Schiffman JD, Khan J, Malkin D, Stewart DR.
    • JCO Precis Oncol. 2021 Jan 11;5:PO.20.00218. doi: 10.1200/PO.20.00218.
    • Clinical Significance of Germline Cancer Predisposing Variants in Unselected Patients with Pancreatic Adenocarcinoma.
    • Fountzilas E, Eliades A, Koliou GA, Achilleos A, Loizides C, Tsangaras K, Pectasides D, Sgouros J, Papakostas P, Rallis G, Psyrri A, Papadimitriou C, Oikonomopoulos G, Ferentinos K, Koumarianou A, Zarkavelis G, Dervenis C, Aravantinos G, Bafaloukos D, Kosmidis P, Papaxoinis G, Theochari M, Varthalitis I, Kentepozidis N, Rigakos G, Saridaki Z, Nikolaidi A, Christopoulou A, Fostira F, Samantas E, Kypri E, Ioannides M, Koumbaris G, Fountzilas G, Patsalis PC.
    • Cancers (Basel). 2021 Jan 8;13(2):E198. doi: 10.3390/cancers13020198.
    • FLABRA, frontline approach for BRCA testing in an ovarian cancer population: a Latin America epidemiologic study.
    • Giornelli G, Gallardo D, Hegg R, Abuin GG, La Vega M, Lim-Law M, Caceres V, Trujillo L, Pilar Estevez-Diz MD, Pacheco C, Sganga L, Goncalves S.
    • Future Oncol. 2021 Jan 8. doi: 10.2217/fon-2020-1152. Epub ahead of print.
    • A novel somatic BRCA2 point mutation in a metastatic pancreatic cancer patient: a case report.
    • Wang D, Guan R, Tao Q, Liu S, Yu M, Li X.
    • BMC Med Genomics. 2021 Jan 6;14(1):6. doi: 10.1186/s12920-020-00850-6.
    • Metaplastic carcinoma of the breast and BRCA1 germline mutation: a case report and review.
    • Yamashita M, Kamei Y, Murakami A, Ozaki E, Okujima K, Takemoto K, Takaoka M, Tsukamoto D, Kusakabe E, Shidahara T, Noda H, Aoki R, Taguchi K, Nishiyama K, Eguchi M, Takada Y.
    • Hered Cancer Clin Pract. 2021 Jan 6;19(1):3. doi: 10.1186/s13053-020-00162-x.
    • Case report
    • Beyond BRCA: Cowden Syndrome (PTEN)
    • [No author given]
    • My Gene Counsel. Genetic Journal. 2021 Jan 6.
    • Germinal BRCA1-2 pathogenic variants (gBRCA1-2pv) and pancreatic cancer: epidemiology of an Italian patient cohort.
    • Peretti U, Cavaliere A, Niger M, Tortora G, Di Marco MC, Rodriquenz MG, Centonze F, Rapposelli IG, Giordano G, De Vita F, Stuppia L, Avallone A, Ratti M, Paratore C, Forti LG, Orsi G, Valente MM, Gaule M, Macchini M, Carrera P, Calzavara S, Simbolo M, Melisi D, De Braud F, Salvatore L, De Lorenzo S, Chiarazzo C, Falconi M, Cascinu S, Milella M, Reni M.
    • ESMO Open. 2021 Jan 4;6(1):100032. doi: 10.1016/j.esmoop.2020.100032. Epub ahead of print.
    • Successful treatment of a patient with brain metastases from endometrial cancer using Niraparib: a case report.
    • Wang Q, Zhang F, Gao H, Xu Y.
    • Ann Palliat Med. 2021 Jan;10(1):818-827. doi: 10.21037/apm-21-113.
    • A pathogenic germline BRCA2 variant in a patient with hypopharyngeal squamous cell carcinoma.
    • Correa T, Laux DE, Hoffman HT.
    • Clin Case Rep. 2020 Nov 25;9(1):429-432. doi: 10.1002/ccr3.3548. eCollection 2021 Jan.
    • Impact of young age on platinum response in women with epithelial ovarian cancer: Results of a large single-institution registry.
    • Michels J, Genestie C, Dunant A, Caron O, Lanoy E, Colomba E, Pommeret F, Rey A, Gouy S, Duvillard P, Teuff GL, Larue C, Savoye AM, Lhommé C, Leary A, Morice P, Pautier P.
    • Gynecol Oncol. 2021 Jan;160(1):77-82. doi: 10.1016/j.ygyno.2020.09.050. Epub 2020 Oct 12.
    • Germline multigene panel testing revealed a BRCA2 pathogenic variant in a patient with suspected Lynch syndrome.
    • Yoshihama T, Hirasawa A, Sugano K, Yoshida T, Ushiama M, Ueki A, Akahane T, Nanki Y, Sakai K, Makabe T, Yamagami W, Susumu N, Kameyama K, Kosaki K, Aoki D.
    • Int Cancer Conf J. 2020 Oct 9;10(1):6-10. doi: 10.1007/s13691-020-00449-9. eCollection 2021 Jan.
    • Correlazioni tra carcinoma pancreatico e pregresse neoplasie [Correlations between pancreatic carcinoma and previous neoplasms.].
    • Gavazzi F, Giordano L, Nebbia M, Luberto A, Izzo A, Zerbi A.
    • Recenti Prog Med. 2021 Jan;112(1):81-88. Italian. doi: 10.1701/3525.35128.
    • [Article in Italian]
    • Whole-genome sequencing of recurrent neuroblastoma reveals somatic mutations that affect key players in cancer progression and telomere maintenance.
    • Fransson S, Martinez-Monleon A, Johansson M, Sjöberg RM, Björklund C, Ljungman G, Ek T, Kogner P, Martinsson T.
    • Sci Rep. 2020 Dec 31;10(1):22432. doi: 10.1038/s41598-020-78370-7.
    • Prevalence of Lynch syndrome in women with mismatch repair-deficient ovarian cancer.
    • Hodan R, Kingham K, Cotter K, Folkins AK, Kurian AW, Ford JM, Longacre T.
    • Cancer Med. 2020 Dec 25. doi: 10.1002/cam4.3688. Epub ahead of print.
    • Association between prostate cancer characteristics and BRCA1/2-associated family cancer history in a Japanese cohort.
    • Ishiyama Y, Shimbo M, Iizuka J, Deshpande G, Tanabe K, Hattori K.
    • PLoS One. 2020 Dec 22;15(12):e0244149. doi: 10.1371/journal.pone.0244149.
    • Novel BRCA2 c.8434_8435insTT (p. Gly2812Valfs*10) mutation in a family with multiple hematologic malignancies and solid tumors.
    • Yin F, Kosewski B, Baer MR.
    • Leuk Lymphoma. 2020 Dec 21:1-5. doi: 10.1080/10428194.2020.1861269. Epub ahead of print.
    • Case report
    • Hereditary ovarian tumour syndromes: current update on genetics and imaging.
    • Shanbhogue KP, Prasad AS, Ucisik-Keser FE, Katabathina VS, Morani AC.
    • Clin Radiol. 2020 Dec 19:S0009-9260(20)30605-X. doi: 10.1016/j.crad.2020.11.116. Epub ahead of print.
    • Review
    • Clinical Outcome-Related Mutational Signatures Identified by Integrative Genomic Analysis in Nasopharyngeal Carcinoma.
    • Dai W, Chung DL, Chow LK, Yu VZ, Lei LC, Leong MM, Chan CK, Ko JM, Lung ML.
    • Clin Cancer Res. 2020 Dec 15;26(24):6494-6504. doi: 10.1158/1078-0432.CCR-20-2854. Epub 2020 Sep 28.
    • Effect of Germline Mutations in Homologous Recombination Repair Genes on Overall Survival of Patients with Pancreatic Adenocarcinoma.
    • Yadav S, Kasi PM, Bamlet WR, Ho TP, Polley EC, Hu C, Hart SN, Rabe KG, Boddicker NJ, Gnanaolivu RD, Lee KY, Lindstrom TH, Petersen GM, Couch FJ, McWilliams RR.
    • Clin Cancer Res. 2020 Dec 15;26(24):6505-6512. doi: 10.1158/1078-0432.CCR-20-1788. Epub 2020 Oct 7.

    Commentary, Review:

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

    • Pancreatic mucinous cystadenocarcinoma in a patient harbouring BRCA1 germline mutation effectively treated with olaparib: A case report.
    • Di Marco M, Carloni R, De Lorenzo S, Mosconi C, Palloni A, Grassi E, Filippini DM, Ricci AD, Rizzo A, Di Federico A, Santini D, Turchetti D, Ricci C, Ingaldi C, Alberici L, Minni F, Golfieri R, Brandi G, Casadei R.
    • World J Gastrointest Oncol. 2020 Dec 15;12(12):1456-1463. doi: 10.4251/wjgo.v12.i12.1456.
    • Population-based Screening for Hereditary Colorectal Cancer Variants in Japan.
    • Fujita M, Liu X, Iwasaki Y, Terao C, Mizukami K, Kawakami E, Takata S, Inai C, Aoi T, Mizukoshi M, Maejima K, Hirata M, Murakami Y, Kamatani Y, Kubo M, Akagi K, Matsuda K, Nakagawa H, Momozawa Y.
    • Clin Gastroenterol Hepatol. 2020 Dec 10:S1542-3565(20)31664-5. doi: 10.1016/j.cgh.2020.12.007. Epub ahead of print.
    • The mutational pattern of homologous recombination-related (HRR) genes in Chinese colon cancer and its relevance to immunotherapy responses.
    • Zhou P, Wu X, Chen H, Hu Y, Zhang H, Wu L, Yang Y, Mao B, Wang H.
    • Aging (Albany NY). 2020 Dec 9;12. doi: 10.18632/aging.202267. Epub ahead of print.
    • Prevalence and spectrum of pathogenic germline variants in intestinal and pancreatobiliary type of ampullary cancer.
    • Kumari N, Singh RK, Mishra SK, L R, Mohindra S, Krishnani N.
    • Pathol Res Pract. 2020 Dec 4;217:153309. doi: 10.1016/j.prp.2020.153309. Epub ahead of print.
    • Five Italian Families with Two Mutations in BRCA Genes.
    • Vietri MT, Caliendo G, D'Elia G, Resse M, Casamassimi A, Minucci PB, Dello Ioio C, Cioffi M, Molinari AM.
    • Genes (Basel). 2020 Dec 3;11(12):E1451. doi: 10.3390/genes11121451.
    • Current practices on genetic testing in ovarian cancer.
    • Fostira F, Papadimitriou M, Papadimitriou C.
    • Ann Transl Med. 2020 Dec;8(24):1703. doi: 10.21037/atm-20-1422.
    • Ovarian cancer risk assessment in the era of next-generation sequencing.
    • Bonadio RC, Crespo JR, Estevez-Diz MDP.
    • Ann Transl Med. 2020 Dec;8(24):1704. doi: 10.21037/atm-20-1582.
    • Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma.
    • Seo SH, Kim JH, Kim MJ, Cho SI, Kim SJ, Kang H, Shin CS, Park SS, Lee KE, Seong MW.
    • Endocrinol Metab (Seoul). 2020 Dec;35(4):909-917. doi: 10.3803/EnM.2020.756. Epub 2020 Dec 23.
    • Outcomes of endoscopic ultrasound as a one-off pancreatic cancer screening tool for 122 high- and moderate-risk patients.
    • Efthymiou M, Chandran S, Zorron Cheng Tao Pu L, Collins A, Rajadurai A, Nikfarjam M, Vaughan R.
    • JGH Open. 2020 Oct 17 [eCollection 2020 Dec];4(6):1217-1223. doi: 10.1002/jgh3.12432.
    • Gastric Cancer in BRCA1 Germline Mutation Carriers: Results of Endoscopic Screening and Molecular Analysis of Tumor Tissues.
    • Avanesyan AA, Sokolenko AP, Ivantsov AO, Kleshchev MA, Maydin MA, Bizin IV, Raskin GA, Shelekhova KV, Gorodnova TV, Bessonov AA, Anisimova EI, Volynshchikova OA, Romanko AA, Ni VI, Broyde RV, Tkachenko OB, Whitehead AJ, Scherbakov AM, Imyanitov EN.
    • Pathobiology. 2020 [Dec];87(6):367-374. doi: 10.1159/000511323. Epub 2020 Nov 6.
    • Pathogenic Germline Mutations of DNA Repair Pathway Components in Early-Onset Sporadic Colorectal Polyp and Cancer Patients.
    • Chang PY, Chang SC, Wang MC, Chen JS, Tsai WS, You JF, Chen CC, Liu HL, Chiang JM.
    • Cancers (Basel). 2020 Nov 28;12(12):3560. doi: 10.3390/cancers12123560.
    • Endometrial cancer in germline BRCA mutation carriers: a systematic review and meta-analysis.
    • Matanes E, Volodarsky-Perel A, Eisenberg N, Rottenstreich M, Yasmeen A, Mitric C, Lau S, Salvador S, Gotlieb WH, Kogan L.
    • J Minim Invasive Gynecol. 2020 Nov 26:S1553-4650(20)31141-9. doi: 10.1016/j.jmig.2020.11.023. Epub ahead of print.
    • Review
    • Association between BRCA mutations and endometrial carcinoma: a systematic review with meta-analysis.
    • Lu G, Lu T, Pan J, Guo L, Pang Y, Liu P.
    • Arch Gynecol Obstet. 2020 Nov 20. doi: 10.1007/s00404-020-05887-7.
    • Review
    • Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes.
    • Gensini F, Sestini R, De Luca A, Pinna V, Daniele P, Orzalesi L, Petrella MC, Porfirio B, Papi L.
    • Fam Cancer. 2020 Nov 19. doi: 10.1007/s10689-020-00217-x. Epub ahead of print.
    • Case report
    • Frequency and prognostic value of mutations associated with the homologous recombination DNA repair pathway in a large pan cancer cohort.
    • Principe DR, Narbutis M, Koch R, Rana A.
    • Sci Rep. 2020 Nov 19;10(1):20223. doi: 10.1038/s41598-020-76975-6.
    • Clinical Characteristics and Prognosis of Gastric Cancer Patients with BRCA 1/2 Germline Mutations: Report of Ten Cases and a Literature Review.
    • Halpern N, Grinshpun A, Boursi B, Golan T, Margalit O, Aderka D, Friedman E, Laitman Y, Hubert A, Kadouri L, Hamburger T, Barnes-Kedar I, Levi Z, Ben-Aharon I, Brenner B, Goldberg Y, Peretz T, Shacham-Shmueli E.
    • Onco Targets Ther. 2020 Nov 13;13:11637-11644. doi: 10.2147/OTT.S276814.
    • Radiologic-Histopathologic Correlation of Transvaginal US and Risk-reducing Salpingo-oophorectomy for Women at High Risk for Tubo-ovarian Carcinoma.
    • Sakala MD, Curci NE, Masch WR, Mendiratta-Lala M, Stein EB, Wasnik AP, Sciallis AP, Uppal S, Pearlman MD, Maturen KE.
    • Radiol Imaging Cancer. 2020 Nov 13;2(6):e190086. doi: 10.1148/rycan.2020190086.
    • BRCA in Gastrointestinal Cancers: Current Treatments and Future Perspectives.
    • Molinaro E, Andrikou K, Casadei-Gardini A, Rovesti G.
    • Cancers (Basel). 2020 Nov 12;12(11):E3346. doi: 10.3390/cancers12113346.
    • Olaparib is effective for recurrent urothelial carcinoma with BRCA2 pathogenic germline mutation: first report on olaparib response in recurrent UC.
    • Yang H, Liu Z, Wang Y, Li J, Li R, Wang Q, Hu C, Jiang H, Wu H, Song L, Bai Y.
    • Ther Adv Med Oncol. 2020 Nov 11;12:1758835920970845. doi: 10.1177/1758835920970845.
    • Germline BRCA1 mutated esophageal squamous cell carcinoma.
    • Starr J, Ramnaraign B.
    • Rare Tumors. 2020 Nov 5;12:2036361320972218. doi: 10.1177/2036361320972218.
    • Case Report: Double Germline Mutations in BRCA1 and MSH2 in a Patient With Mixed Serous-Endometrioid Endometrial Carcinoma.
    • Zheng H, Yuan M, Wu H, Chen R, Gao Y.
    • Front Med (Lausanne). 2020 Nov 3;7:581982. doi: 10.3389/fmed.2020.581982.
    • Molecular characteristics of BRCA1/2 and PALB2 mutations in pancreatic ductal adenocarcinoma.
    • Seeber A, Zimmer K, Kocher F, Puccini A, Xiu J, Nabhan C, Elliott A, Goldberg RM, Grothey A, Shields AF, Battaglin F, El-Deiry WS, Philip PA, Marshall JL, Hall M, Korn WM, Lenz HJ, Wolf D, Feistritzer C, Spizzo G.
    • ESMO Open. 2020 Nov;5(6):e000942. doi: 10.1136/esmoopen-2020-000942.
    • 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.
    • Risques néoplasiques majorés dans la rectocolite ulcéro-hémorragique associée à la cholangite sclérosante primitive [Increased neoplastic risks in ulcerative colitis associated with primary sclerosing cholangitis].
    • Kouam C, Warling O, Van Kemseke C, Loly JP, Louis E, Delwaide J.
    • Rev Med Liege. 2020 Nov;75(11):724-730. French.
    • 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.

    • Prevalence of germline BRCA mutations in HER2-negative metastatic breast cancer: global results from the real-world, observational BREAKOUT study.
    • O'Shaughnessy J, Brezden-Masley C, Cazzaniga M, Dalvi T, Walker G, Bennett J, Ohsumi S.
    • Breast Cancer Res. 2020 Oct 27;22(1):114. doi: 10.1186/s13058-020-01349-9.
    • Germline Profiling and Molecular Characterization of Early Onset Metastatic Colorectal Cancer.
    • Xu T, Zhang Y, Zhang J, Qi C, Liu D, Wang Z, Li Y, Ji C, Li J, Lin X, Hou T, Liu H, Zhang L, Han-Zhang H, Shen L, Wang X.
    • Front Oncol. 2020 Oct 19;10:568911. doi: 10.3389/fonc.2020.568911.
    • Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.
    • Stolarova L, Jelinkova S, Storchova R, Machackova E, Zemankova P, Vocka M, Kodet O, Kral J, Cerna M, Volkova Z, Janatova M, Soukupova J, Stranecky V, Dundr P, Foretova L, Macurek L, Kleiblova P, Kleibl Z.
    • Biomedicines. 2020 Oct 9;8(10):E404. doi: 10.3390/biomedicines8100404.
    • Tumor and germline next generation sequencing in high grade serous cancer: experience from a large population-based testing program.
    • Care M, McCuaig J, Clarke B, Grenier S, Kim RH, Rouzbahman M, Stickle N, Bernardini M, Stockley TL.
    • Mol Oncol. 2020 Oct 8. doi: 10.1002/1878-0261.12817. Epub ahead of print.
    • Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.
    • Meng H, Jiang X, Cui J, Yin G, Shi B, Liu Q, Xuan H, Wang Y.
    • Biomed Res Int. 2020 Sep 30;2020:2495157. doi: 10.1155/2020/2495157.
    • Gene Panel Tumor Testing in Ovarian Cancer Patients Significantly Increases the Yield of Clinically Actionable Germline Variants beyond BRCA1/BRCA2.
    • Barbosa A, Pinto P, Peixoto A, Guerra J, Pinto C, Santos C, Pinheiro M, Escudeiro C, Bartosch C, Silva J, Teixeira MR.
    • Cancers (Basel). 2020 Sep 30;12(10):2834. doi: 10.3390/cancers12102834.
    • Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes.
    • Mizukami K, Iwasaki Y, Kawakami E, Hirata M, Kamatani Y, Matsuda K, Endo M, Sugano K, Yoshida T, Murakami Y, Nakagawa H, Spurdle AB, Momozawa Y.
    • EBioMedicine. 2020 Sep 24;60:103033. doi: 10.1016/j.ebiom.2020.103033. Epub ahead of print.
    • Identification of a Novel BRCA1 Alteration in Recurrent Melanocytoma Resulting in Increased Proliferation.
    • San-Miguel T, Navarro L, Sánchez-Sendra B, Megías J, Muñoz-Hidalgo L, Santonja N, López-Ginés C, Cerdá-Nicolas M.
    • J Neuropathol Exp Neurol. 2020 Sep 24:nlaa089. doi: 10.1093/jnen/nlaa089. Epub ahead of print.
    • Case report
    • Olaparib combined with immunotherapy for treating a patient with liver cancer carrying BRCA2 germline mutation: A case report.
    • Zhao F, Zhou Y, Seesaha PK, Zhang Y, Liu S, Gan X, Hu J, Gu Y, Chen X.
    • Medicine (Baltimore). 2020 Sep 18;99(38):e22312. doi: 10.1097/MD.0000000000022312.
    • Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.
    • Germani A, Petrucci S, De Marchis L, Libi F, Savio C, Amanti C, Bonifacino A, Campanella B, Capalbo C, Lombardi A, Maggi S, Mattei M, Osti MF, Pellegrini P, Speranza A, Stanzani G, Vitale V, Pizzuti A, Torrisi MR, Piane M.
    • J Clin Med. 2020 Sep 17;9(9):E3003. doi: 10.3390/jcm9093003.
    • Poly (ADP-Ribose) Polymerase Inhibitor Activity in Prostate Cancers Harboring Mutations in DNA Repair Genes: Who Benefits?
    • Ganesan S, Garber J.
    • JCO Precis Oncol. 2020;4:1034. doi: 10.1200/PO.20.00269. Epub 2020 Sep 9.

    Original research:

    Olaparib for Metastatic Castration-Resistant Prostate Cancer.

    Study record: Study of Olaparib (Lynparza™) Versus Enzalutamide or Abiraterone Acetate in Men With Metastatic Castration-Resistant Prostate Cancer (PROfound Study). (ClinicalTrials.gov)

    • First report of a Mexican family with mutation in the CDH1 gene.
    • Martínez Valenzuela C, Castelán-Maldonado EE, Carvajal-Zarrabal O, Calderón-Garcidueñas AL.
    • Mol Genet Genomic Med. 2020 Sep 4:e1208. doi: 10.1002/mgg3.1208. Epub ahead of print.
    • FoundationOne® CDx gene profiling in Japanese pancreatic ductal adenocarcinoma patients: a single-institution experience.
    • Kimura R, Ohtsuka T, Kubo M, Kajihara A, Fujii A, Watanabe Y, Mori Y, Ikenaga N, Nakata K, Shindo K, Ohuchida K, Nakamura M.
    • Surg Today. 2020 Sep 4. doi: 10.1007/s00595-020-02123-2. Epub ahead of print.
    • Comparison Between Familial Colorectal Cancer Type X and Lynch Syndrome: Molecular, Clinical, and Pathological Characteristics and Pedigrees.
    • Xu Y, Li C, Zhang Y, Guo T, Zhu C, Xu Y, Liu F.
    • Front Oncol. 2020 Sep 2;10:1603. doi: 10.3389/fonc.2020.01603.
    • PARP Inhibitors in Biliary Tract Cancer: A New Kid on the Block?
    • Ricci AD, Rizzo A, Bonucci C, Tober N, Palloni A, Mollica V, Maggio I, Deserti M, Tavolari S, Brandi G.
    • Medicines (Basel). 2020 Aug 31;7(9):E54. doi: 10.3390/medicines7090054.
    • Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.
    • Kim B, Yun W, Lee ST, Choi JR, Yoo KH, Koo HH, Jung CW, Kim SH.
    • Sci Rep. 2020 Aug 31;10(1):14297. doi: 10.1038/s41598-020-71386-z.
    • Genetic Counseling for Hereditary Gastric and Pancreatic Cancer in High-Risk Gastrointestinal Cancer Clinics: An Effective Strategy.
    • Llach J, Moreno L, Sánchez A, Herrera-Pariente C, Ocaña T, Cuatrecasas M, Rivero-Sánchez L, Moreira R, Díaz M, Jung G, Pellisé M, Castells A, Balaguer F, Carballal S, Moreira L.
    • Cancers (Basel). 2020 Aug 23;12(9):2386. doi: 10.3390/cancers12092386.
    • Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: evidence for further locus heterogeneity.
    • Smith PS, West H, Whitworth J, Castle B, Sansbury FH, Warren AY, Woodward ER, Tischkowitz M, Maher ER.
    • Genes Chromosomes Cancer. 2020 Aug 23. doi: 10.1002/gcc.22893. Epub ahead of print.
    • Are pathogenic BRCA1 mutations associated with parotid mucoepidermoid carcinoma? A case report.
    • Silva PGB, de Sant'ana RO, Picanço-Albuquerque CG, Silva-Fernandes IJL, Bezerra MJB, Luciano MCDS, Lima MVA.
    • Oral Surg Oral Med Oral Pathol Oral Radiol. 2020 Aug 21:S2212-4403(20)31166-4. doi: 10.1016/j.oooo.2020.08.017. Epub ahead of print.
    • Case report
    • Comparison of Molecular, Clinicopathological, and Pedigree Differences Between Lynch-Like and Lynch Syndromes.
    • Xu Y, Huang Z, Li C, Zhu C, Zhang Y, Guo T, Liu F, Xu Y.
    • Front Genet. 2020 Aug 19;11:991. doi: 10.3389/fgene.2020.00991.
    • Primary pulmonary Ewing sarcoma/peripheral primitive neuroectodermal tumor.
    • Sohn AJ, Lang B, McCarroll M, Agarwal A.
    • Proc (Bayl Univ Med Cent). 2020 Aug 19;33(4):646-648. doi: 10.1080/08998280.2020.1798723.
    • 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.
    • Identification of Recurrent Variants in BRCA1 and BRCA2 across Multiple Cancers in the Chinese Population.
    • Jiang Y, Tian T, Yu C, Zhou W, Yang J, Wang Y, Wen Y, Chen J, Dai J, Jin G, Ma H, Shen H, Hu Z.
    • Biomed Res Int. 2020 Aug 15;2020:6739823. doi: 10.1155/2020/6739823.
    • Somatic BRCA Mutation in a Cholangiocarcinoma Patient for HBOC Syndrome Detection.
    • Paradiso AV, Patruno M, Digennaro M, Tommasi S, Pilato B, Argentiero A, Brunetti O, Silvestris N.
    • Front Oncol. 2020 Aug 12;10:1292. doi: 10.3389/fonc.2020.01292.
    • Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer.
    • Hartman TR, Demidova EV, Lesh RW, Hoang L, Richardson M, Forman A, Kessler L, Speare V, Golemis EA, Hall MJ, Daly MB, Arora S.
    • Sci Rep. 2020 Aug 11;10(1):13518. doi: 10.1038/s41598-020-70449-5.
    • BReast CAncer (BRCA) gene mutations as an emerging biomarker for the treatment of gastrointestinal malignancies.
    • Premnath N, O'Reilly EM.
    • Chin Clin Oncol. 2020 Aug 10:cco-2019-ddp-05. doi: 10.21037/cco-2019-ddp-05. Epub ahead of print.
    • Retrospective review of outcomes in patients with DNA-damage repair related pancreatic cancer.
    • Macklin-Mantia SK, Hines SL, Kasi PM.
    • Hered Cancer Clin Pract. 2020 Aug 10;18:17. doi: 10.1186/s13053-020-00148-9.
    • Characteristics of cancer susceptibility genes mutations in 282 patients with gastric adenocarcinoma.
    • Ji K, Ao S, He L, Zhang L, Feng L, Lyu G.
    • Chin J Cancer Res. 2020 Aug;32(4):508-515. doi: 10.21147/j.issn.1000-9604.2020.04.08.
    • Excellent Response to Olaparib in a Patient with Metastatic Pancreatic Adenocarcinoma with Germline BRCA1 Mutation after Progression on FOLFIRINOX: Case Report and Literature Review.
    • Pimenta JR, Ueda SKN, Peixoto RD.
    • Case Rep Oncol. 2020 Jul 29;13(2):904-910. doi: 10.1159/000508533.
    • The Effects of Genetic and Epigenetic Alterations of BARD1 on the Development of Non-Breast and Non-Gynecological Cancers.
    • Watters AK, Seltzer ES, MacKenzie D Jr, Young M, Muratori J, Hussein R, Sodoma AM, To J, Singh M, Zhang D.
    • Genes (Basel). 2020 Jul 21;11(7):E829. doi: 10.3390/genes11070829.
    • HPV nonrelated endocervical adenocarcinoma in hereditary cancer syndromes.
    • Carnevali I, Di Lauro E, Pensotti V, Sahnane N, Leoni E, Formenti G, Ghezzi F, Sessa F, Tibiletti MG.
    • Tumori. 2020 Jul 8:300891620936752. doi: 10.1177/0300891620936752. Epub ahead of print.
    • Case report
    • 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.
    • Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
    • Silvestri V, Leslie G, Barnes DR; and the CIMBA Group, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Barkardottir RB, Barroso A, Barrowdale D, Benitez J, Bonanni B, Borg A, Buys SS, Caldés T, Caligo MA, Capalbo C, Campbell I, Chung WK, Claes KBM, Colonna SV, Cortesi L, Couch FJ, de la Hoya M, Diez O, Ding YC, Domchek S, Easton DF, Ejlertsen B, Engel C, Evans DG, Feliubadalò L, Foretova L, Fostira F, Géczi L, Gerdes AM, Glendon G, Godwin AK, Goldgar DE, Hahnen E, Hogervorst FBL, Hopper JL, Hulick PJ, Isaacs C, Izquierdo A, James PA, Janavicius R, Jensen UB, John EM, Joseph V, Konstantopoulou I, Kurian AW, Kwong A, Landucci E, Lesueur F, Loud JT, Machackova E, Mai PL, Majidzadeh-A K, Manoukian S, Montagna M, Moserle L, Mulligan AM, Nathanson KL, Nevanlinna H, Ngeow Yuen Ye J, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Osorio A, Papi L, Park SK, Pedersen IS, Perez-Segura P, Petersen AH, Pinto P, Porfirio B, Pujana MA, Radice P, Rantala J, Rashid MU, Rosenzweig B, Rossing M, Santamariña M, Schmutzler RK, Senter L, Simard J, Singer CF, Solano AR, Southey MC, Steele L, Steinsnyder Z, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Teo SH, Terry MB, Thomassen M, Toland AE, Torres-Esquius S, Tung N, van Asperen CJ, Vega A, Viel A, Vierstraete J, Wappenschmidt B, Weitzel JN, Wieme G, Yoon SY, Zorn KK, McGuffog L, Parsons MT, Hamann U, Greene MH, Kirk JA, Neuhausen SL, Rebbeck TR, Tischkowitz M, Chenevix-Trench G, Antoniou AC, Friedman E, Ottini L.
    • JAMA Oncol. 2020 Jul 2. doi: 10.1001/jamaoncol.2020.2134. Epub ahead of print.
    • Olaparib and Pembrolizumab Treatment for BRCA1-Mutated and PD-L1-Positive Intrahepatic Cholangiocarcinoma Recurrence and Metastasis: A Case Report.
    • Xiong F, Gong J, Wang Q.
    • Onco Targets Ther. 2020 Jul 1;13:6385-6391. doi: 10.2147/OTT.S250454.
    • DNA Repair and Ovarian Carcinogenesis: Impact on Risk, Prognosis and Therapy Outcome.
    • Tomasova K, Cumova A, Seborova K, Horak J, Koucka K, Vodickova L, Vaclavikova R, Vodicka P.
    • Cancers (Basel). 2020 Jun 28;12(7):E1713. doi: 10.3390/cancers12071713.
    • Malignant fibroadenoma with CHEK2 mutation: a novel case.
    • Ching D, Pirasteh S, Vora B, Martin R, Gill J.
    • Pathology. 2020 Jun 27:S0031-3025(20)30829-1. doi: 10.1016/j.pathol.2020.04.009. Epub ahead of print.
    • Letter, Case report
    • Undifferentiated carcinoma with osteoclast-like giant cells of the pancreas harboring KRAS and BRCA mutations: case report and whole exome sequencing analysis.
    • Yang G, Yin J, Ou K, Du Q, Ren W, Jin Y, Peng L, Yang L.
    • BMC Gastroenterol. 2020 Jun 26;20(1):202. doi: 10.1186/s12876-020-01351-7.
    • Small Steps in Pancreatic Cancer – Episode 2: Relatives at Risk.
    • McAllister F, Maitra A, Burton M, McGuire M..
    • Medscape. 2020 Jun 25.
    • 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.
    • Co-occurrence of germline BRCA1 and CDH1 pathogenic variants.
    • Villy MC, Mouret-Fourme E, Golmard L, Becette V, Callet N, Marx G, Colas C, Lamarque D, Rouleau E, Stoppa-Lyonnet D.
    • J Med Genet. 2020 Jun 23:jmedgenet-2020-106972. doi: 10.1136/jmedgenet-2020-106972. Epub ahead of print.
    • Case report
    • Multiple primary tumors: a case report and review of the literature.
    • Zhao Z, Sun K, Yan T, Wei R, Guo W.
    • BMC Musculoskelet Disord. 2020 Jun 22;21(1):394. doi: 10.1186/s12891-020-03426-8.
    • Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
    • Sprissler R, Perkins B, Johnstone L, Babiker HM, Chalasani P, Lau B, Hammer M, Mahadevan D.
    • Cancers (Basel). 2020 Jun 18;12(6):E1618. doi: 10.3390/cancers12061618.
    • CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report.
    • Szeliga A, Pralat A, Witczak W, Podfigurna A, Wojtyla C, Kostrzak A, Meczekalski B.
    • Int J Environ Res Public Health. 2020 Jun 18;17(12):E4397. doi: 10.3390/ijerph17124397.
    • Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review.
    • Corso G, Montagna G, Figueiredo J, La Vecchia C, Fumagalli Romario U, Fernandes MS, Seixas S, Roviello F, Trovato C, Guerini-Rocco E, Fusco N, Pravettoni G, Petrocchi S, Rotili A, Massari G, Magnoni F, De Lorenzi F, Bottoni M, Galimberti V, Sanches JM, Calvello M, Seruca R, Bonanni B.
    • Cancers (Basel). 2020 Jun 17;12(6):E1598. doi: 10.3390/cancers12061598.
    • Comparison of suspected Lynch syndrome patients carrying BRCA and BRCA-like variants with Lynch syndrome probands: Phenotypic characteristics and pedigree analyses.
    • Xu Y, Li C, Wang Z, Liu F, Xu Y.
    • Mol Genet Genomic Med. 2020 Jun 16:e1359. doi: 10.1002/mgg3.1359. Epub ahead of print.
    • Somatic and Germline BRCA 1 and 2 Mutations in Advanced NSCLC From the SAFIR02-Lung Trial.
    • Remon J, Besse B, Leary A, Bièche I, Job B, Lacroix L, Auguste A, Mauduit M, Audigier-Valette C, Raimbourg J, Madroszyk A, Michels S, Bayar MA, Jimenez M, Soria JC, Rouleau E, Barlesi F.
    • JTO Clin Res Rep. 2020 Jun 11;1(3):100068. doi: 10.1016/j.jtocrr.2020.100068.
    • Pathogenic Germline Mutations in Chinese Patients with Gastric Cancer Identified by Next-Generation Sequencing.
    • Zhou J, Zhao Z, Zhang Y, Bao C, Cui L, Cai S, Bai Y, Shen L, Zhang X.
    • Oncology. 2020 Jun 10:1-6. doi: 10.1159/000505664. Epub ahead of print.
    • Homologous Recombination Repair Defect May Predict Treatment Response to Peptide Receptor Radionuclide Therapy for Neuroendocrine Tumors.
    • Zhu M, Mohamad S, Halfdanarson T, Hobday T, Ahn D, Ma WW, Bekaii-Saab T.
    • Oncologist. 2020 Jun 8. doi: 10.1634/theoncologist.2020-0029. Epub ahead of print.
    • 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.
    • Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.
    • Fortuno C, Mester J, Pesaran T, Weitzel JN, Dolinsky J, Yussuf A, McGoldrick K, Garber JE, Savage SA, Khincha PP, Gareth Evans D, Achatz MI, Nichols KE, Maxwell K, Schiffman JD, Sandoval R; Li-Fraumeni Exploration (LIFE) Consortium, James PA, Spurdle AB.
    • Hum Mutat. 2020 Jun 2. doi: 10.1002/humu.24060. Epub ahead of print.
    • Identifying Patients With Pancreatic Cancer Likely to Respond.
    • Harrison P.
    • Medscape. 2020 Jun 2.

    Original research:

    Genomic Methods Identify Homologous Recombination Deficiency in Pancreas Adenocarcinoma and Optimize Treatment Selection.

    • Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait.
    • Caburet S, Heddar A, Dardillac E, Creux H, Lambert M, Messiaen S, Tourpin S, Livera G, Lopez BS, Misrahi M.
    • J Med Genet. 2020 Jun 1:jmedgenet-2019-106672. doi: 10.1136/jmedgenet-2019-106672. Epub ahead of print.
    • Case report
    • Molecular profile of BRCA-mutated biliary tract cancers.
    • Spizzo G, Puccini A, Xiu J, Goldberg RM, Grothey A, Shields AF, Arora SP, Khushmann M, Salem ME, Battaglin F, Baca Y, El-Deiry WS, Philip PA, Nassem M, Hall M, Marshall JL, Kocher F, Amann A, Wolf D, Korn WM, Lenz H, Seeber A.
    • ESMO Open. 2020 Jun;5(3):e000682. doi: 10.1136/esmoopen-2020-000682.
    • Ancestry-specific predisposing germline variants in cancer.
    • Oak N, Cherniack AD, Mashl RJ; TCGA Analysis Network, Hirsch FR, Ding L, Beroukhim R, Gümüs ZH, Plon SE, Huang KL.
    • Genome Med. 2020 May 29;12(1):51. doi: 10.1186/s13073-020-00744-3.
    • Genetic Testing Challenges in Oncology: Missed Mutations Highlight Somatic, Germline Test Difference.
    • Ray T.
    • Precision Oncology News. 2020 May 26.
    • Genomic Methods Identify Homologous Recombination Deficiency in Pancreas Adenocarcinoma and Optimize Treatment Selection.
    • Park W, Chen J, Chou JF, Varghese AM, Yu KH, Wong W, Capanu M, Balachandran V, McIntyre CA, El Dika I, Khalil DN, Harding JJ, Ghalehsari N, McKinnell Z, Chalasani SB, Makarov V, Selenica P, Pei X, Lecomte N, Kelsen DP, Abou-Alfa GK, Robson ME, Zhang L, Berger MF, Schultz N, Chan TA, Powell SN, Reis-Filho JS, Iacobuzio-Donahue CA, Riaz N, O'Reilly EM.
    • Clin Cancer Res. 2020 May 22. doi: 10.1158/1078-0432.CCR-20-0418. Epub ahead of print.
    • 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.
    • Biallelic NF1 inactivation in high grade serous ovarian cancers from patients with neurofibromatosis type 1.
    • Courtney E, Chan SH, Li ST, Ishak D, Merchant K, Shaw T, Chay WY, Chin FHX, Wong WL, Wong A, Ngeow J.
    • Fam Cancer. 2020 May 13. doi: 10.1007/s10689-020-00184-3. Epub ahead of print.
    • Case report
    • Identifying Ashkenazi Jewish BRCA1/2 founder variants in individuals who do not self-report Jewish ancestry.
    • Tennen RI, Laskey SB, Koelsch BL, McIntyre MH, Tung JY.
    • Sci Rep. 2020 May 6;10(1):7669. doi: 10.1038/s41598-020-63466-x.
    • Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
    • Akhavanfard S, Padmanabhan R, Yehia L, Cheng F, Eng C.
    • Nat Commun. 2020 May 5;11(1):2206. doi: 10.1038/s41467-020-16067-1.

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

    • BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases.
    • Suszynska M, Ratajska M, Kozlowski P.
    • J Ovarian Res. 2020 May 2;13(1):50. doi: 10.1186/s13048-020-00654-3.
    • Frequency of pathogenic/likely pathogenic germline variants in cancer-related genes among children with acute leukemia in Saudi Arabia.
    • Alsultan A, Essa M, Aljefri A, Ayas M, Alharbi M, Alkhayat N, Al-Anzi F, Yassin F, Alkasim F, Alharbi Q, Abdullah S, Jastaniah W.
    • Pediatr Blood Cancer. 2020 May 2:e28340. doi: 10.1002/pbc.28340. [Epub ahead of print]
    • Pan-Cancer Analysis of BRCA1 and BRCA2 Genomic Alterations and Their Association With Genomic Instability as Measured by Genome-Wide Loss of Heterozygosity.
    • Sokol ES, Pavlick D, Khiabanian H, Frampton GM, Ross JS, Gregg JP, Lara PN, Oesterreich S, Agarwal N, Necchi A, Miller VA, Alexander B, Ali SM, Ganesan S, Chung JH.
    • JCO Precis Oncol. 2020;4:442-465. doi: 10.1200/po.19.00345. Epub 2020 Apr 30.
    • Are Pathogenic Germline Variants in Metastatic Melanoma Associated with Resistance to Combined Immunotherapy?
    • Amaral T, Schulze M, Sinnberg T, Nieser M, Martus P, Battke F, Garbe C, Biskup S, Forschner A.
    • Cancers (Basel). 2020 Apr 28;12(5). pii: E1101. doi: 10.3390/cancers12051101.
    • Understanding inherited risk in unselected newly diagnosed patients with endometrial cancer.
    • Cadoo KA, Mandelker DL, Mukherjee S, Stewart C, DeLair D, Ravichandran V, Srinivasan P, Hurley D, Kemel Y, Arnold AG, Sheehan M, Pradhan N, Joseph V, Chi DS, Gardner GJ, Jewell EL, Leitao MM Jr, Roche KL, Mueller JJ, Sonoda Y, Zivanovic O, Walsh M, Carlo MI, Berger MF, Hyman D, Zhang L, Robson ME, Offit K, Aghajanian C, Rustum NRA, Stadler Z.
    • JCO Precis Oncol. 2019;3:10.1200/po.18.00338. doi: 10.1200/po.18.00338. Epub 2019 Apr 25.
    • Mucinous Histology, BRCA1/2 Mutations, and Elevated Tumor Mutational Burden in Colorectal Cancer.
    • Harpaz N, Gatt YE, Granit RZ, Fruchtman H, Hubert A, Grinshpun A.
    • J Oncol. 2020 Apr 25;2020:6421205. doi: 10.1155/2020/6421205. eCollection 2020.
    • BRCA Mutations in Pancreas Cancer: Spectrum, Current Management, Challenges and Future Prospects.
    • Wong W, Raufi AG, Safyan RA, Bates SE, Manji GA.
    • Cancer Manag Res. 2020 Apr 23;12:2731-2742. doi: 10.2147/CMAR.S211151. eCollection 2020.
    • Increased Rate of Complete Pathologic Response After Neoadjuvant FOLFIRINOX for BRCA Mutation Carriers with Borderline Resectable Pancreatic Cancer.
    • Golan T, Barenboim A, Lahat G, Nachmany I, Goykhman Y, Shacham-Shmueli E, Halpern N, Brazowski E, Geva R, Wolf I, Goldes Y, Ben-Haim M, Klausner JM, Lubezky N.
    • Ann Surg Oncol. 2020 Apr 20. doi: 10.1245/s10434-020-08469-8. [Epub ahead of print]

    Research review, Commentary:

    ASO Author Reflections: Pancreatic Cancer Patients with Germline BRCA Mutations Benefit from Early Introduction of Platinum-Based Chemotherapy.

    • Risk of colorectal cancer associated with BRCA1 and/or BRCA2 mutation carriers: systematic review and meta-analysis.
    • Cullinane CM, Creavin B, O'Connell EP, Kelly L, O'Sullivan MJ, Corrigan MA, Redmond HP.
    • Br J Surg. 2020 Apr 16. doi: 10.1002/bjs.11603. [Epub ahead of print]
    • Review
    • Recurrent uterine serous carcinoma with a germline pathogenic BRCA2 variant treated using olaparib: A case report.
    • Inoue K, Tsubamoto H, Ueda T, Tajima C, Nakagomi N.
    • Gynecol Oncol Rep. 2020 Apr 5;32:100563. doi: 10.1016/j.gore.2020.100563. eCollection 2020 May.
    • Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.
    • Subramanian DN, Zethoven M, McInerny S, Morgan JA, Rowley SM, Lee JEA, Li N, Gorringe KL, James PA, Campbell IG.
    • Nat Commun. 2020 Apr 2;11(1):1640. doi: 10.1038/s41467-020-15461-z.
    • Bilateral Paget's Disease of the Breast in a Patient with CHEK2 Mutation.
    • Owusu-Brackett N, Menon PD, Nazarullah A, Jatoi I, Elmi M.
    • Eur J Breast Health. 2020 Apr 1;16(2):152-154. doi: 10.5152/ejbh.2020.5568. eCollection 2020 Apr.
    • 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.
    • A genome-wide association study on medulloblastoma.
    • Dahlin AM, Wibom C, Andersson U, Bybjerg-Grauholm J, Deltour I, Hougaard DM, Scheurer ME, Lau CC, McKean-Cowdin R, Kennedy RJ, Hung LT, Yee J, Margol AS, Barrington-Trimis J, Gauderman WJ, Feychting M, Schüz J, Röösli M, Kjaerheim K; Cefalo Study Group, Januszkiewicz-Lewandowska D, Fichna M, Nowak J, Searles Nielsen S, Asgharzadeh S, Mirabello L, Hjalmars U, Melin B.
    • J Neurooncol. 2020 Apr;147(2):309-315. doi: 10.1007/s11060-020-03424-9. Epub 2020 Feb 13.
    • 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.
    • An interesting case of likely BRCA2 related bilateral breast cancer with metastasis in the fimbrial part of fallopian tube.
    • Boltežar L, Gašljevic G, Novakovic S, Stegel V, Škof E.
    • Hered Cancer Clin Pract. 2020 Mar 19;18:7. doi: 10.1186/s13053-020-00139-w. eCollection 2020.
    • [The pathology of hereditary ovarian tumors].
    • Pesce F, Devouassoux-Shisheboran M.
    • Ann Pathol. 2020 Mar 13. pii: S0242-6498(20)30051-1. doi: 10.1016/j.annpat.2020.02.015. [Epub ahead of print]
    • Review, [Article in French]
    • Hereditary and Sporadic Pancreatic Ductal Adenocarcinoma: Current Update on Genetics and Imaging.
    • Morani AC, Hanafy AK, Ramani NS, Katabathina VS, Yedururi S, Dasyam AK, Prasad SR.
    • Radiol Imaging Cancer. 2020 Mar 13;2(2):e190020. doi: 10.1148/rycan.2020190020.
    • Small Cell Carcinoma of the Ovary, Hypercalcaemic Type - genetics, new treatment targets and current management guidelines.
    • Tischkowitz M, Huang S, Banerjee S, Hague J, Hendricks WPD, Huntsman DG, Lang JD, Orlando KA, Oza AM, Pautier P, Ray-Coquard I, Trent JM, Wichter M, Witkowski L, McCluggage WG, Levine DA, Foulkes WD, Weissman BE.
    • Clin Cancer Res. 2020 Mar 10. pii: clincanres.3797.2019. doi: 10.1158/1078-0432.CCR-19-3797. [Epub ahead of print]
    • Germline and Somatic BRCA1/2 Mutations in 172 Chinese Women With Epithelial Ovarian Cancer.
    • You Y, Li L, Lu J, Wu H, Wang J, Gao J, Wu M, Liang Z.
    • Front Oncol. 2020 Mar 10;10:295. doi: 10.3389/fonc.2020.00295. eCollection 2020.
    • PARP inhibitors in pancreatic cancer: molecular mechanisms and clinical applications.
    • Zhu H, Wei M, Xu J, Hua J, Liang C, Meng Q, Zhang Y, Liu J, Zhang B, Yu X, Shi S.
    • Mol Cancer. 2020 Mar 2;19(1):49. doi: 10.1186/s12943-020-01167-9.
    • 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)

    • Therapeutic options for mucinous ovarian carcinoma.
    • Gorringe KL, Cheasley D, Wakefield MJ, Ryland GL, Allan PE, Alsop K, Amarasinghe KC, Ananda S, Bowtell DDL, Christie M, Chiew YE, Churchman M, DeFazio A, Fereday S, Gilks CB, Gourley C, Hadley AM, Hendley J, Hunter SM, Kaufmann SH, Kennedy CJ, Köbel M, Le Page C, Li J, Lupat R, McNally OM, McAlpine JN, Pyman J, Rowley SM, Salazar C, Saunders H, Semple T, Stephens AN, Thio N, Torres MC, Traficante N, Zethoven M, Antill YC, Campbell IG, Scott CL.
    • Gynecol Oncol. 2020 Mar;156(3):552-560. doi: 10.1016/j.ygyno.2019.12.015. Epub 2020 Jan 2.
    • Germline PALB2, ATM variants in a patient with breast and ovarian cancer at risk for familial cancer syndrome: Is there a role for risk-reducing salpingo-oophorectomy?
    • Carbajal-Mamani SL, Markham MJ, Santolaya-Forgas J, Castagno JC, Cardenas-Goicoechea J.
    • Obstet Gynecol Sci. 2020 Mar;63(2):205-208. doi: 10.5468/ogs.2020.63.2.205. Epub 2020 Feb 5.
    • Next generation sequencing of BRCA genes in glioblastoma multiform Egyptian patients: a pilot study.
    • Nageeb AM, Mohamed MM, Ezz El Arab LR, Khalifa MK, Swellam M.
    • Arch Physiol Biochem. 2020 Feb 26:1-9. doi: 10.1080/13813455.2020.1729814. [Epub ahead of print]
    • Geographic and Ethnic Heterogeneity of Germline BRCA1 or BRCA2 Mutation Prevalence Among Patients With Metastatic Pancreatic Cancer Screened for Entry Into the POLO Trial.
    • Golan T, Kindler HL, Park JO, Reni M, Macarulla T, Hammel P, Van Cutsem E, Arnold D, Hochhauser D, McGuinness D, Locker GY, Goranova T, Schatz P, Liu YZ, Hall MJ.
    • J Clin Oncol. 2020 Feb 19:JCO1901890. doi: 10.1200/JCO.19.01890. [Epub ahead of print]
    • Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.
    • Winn JS, Hasse Z, Slifker M, Pei J, Arisi-Fernandez SM, Talarchek JN, Obeid E, Baldwin DA, Gong Y, Ross E, Cristofanilli M, Alpaugh RK, Fernandez SV.
    • Int J Mol Sci. 2020 Feb 14;21(4). pii: E1290. doi: 10.3390/ijms21041290.
    • An Emerging Paradigm for Germline Testing in Pancreatic Ductal Adenocarcinoma and Immediate Implications for Clinical Practice: A Review.
    • Rainone M, Singh I, Salo-Mullen EE, Stadler ZK, O'Reilly EM.
    • JAMA Oncol. 2020 Feb 13. doi: 10.1001/jamaoncol.2019.5963. [Epub ahead of print]
    • Review

    Press: Pancreatic Cancer Patients May Harbor Treatable Germline Mutations. (Medscape Oncology)

    • Biliary tract cancer and genomic alterations in homologous recombinant deficiency: exploiting synthetic lethality with PARP inhibitors.
    • Ahn DH, Bekaii-Saab T.
    • Chin Clin Oncol. 2020 Feb;9(1):6. doi: 10.21037/cco.2020.02.02. Epub 2020 Feb 20.
    • Treatment of Pediatric Glioblastoma with Combination Olaparib and Temozolomide Demonstrates 2-Year Durable Response.
    • Valiakhmetova A, Gorelyshev S, Konovalov A, Trunin Y, Savateev A, Kram DE, Severson E, Hemmerich A, Edgerly C, Duncan D, Britt N, Huang RSP, Elvin J, Miller V, Ross JS, Gay L, McCorkle J, Rankin A, Erlich RL, Chudnovsky Y, Ramkissoon SH.
    • Oncologist. 2020 Feb;25(2):e198-e202. doi: 10.1634/theoncologist.2019-0603. Epub 2019 Oct 16.
    • Are there clinical factors that can predict prolonged survival of patients receiving olaparib as maintenance therapy for BRCA-mutated ovarian cancer?
    • Lieberman HB.
    • Transl Cancer Res. 2020 Feb;9(2):418-420. doi: 10.21037/tcr.2019.12.102.

    Original research:

    Clinical factors associated with prolonged response and survival under olaparib as maintenance therapy in BRCA mutated ovarian cancers.

    • Population frequency of Fanconi pathway gene variants and their association with survival after hematopoietic cell transplant for severe aplastic anemia.
    • McReynolds LJ, Wang Y, Thompson AS, Ballew BJ, Kim J, Alter BP, Hicks B, Zhu B, Jones K, Spellman SR, Wang T, Lee SJ, Savage SA, Gadalla SM.
    • Biol Blood Marrow Transplant. 2020 Jan 23. pii: S1083-8791(20)30022-7. doi: 10.1016/j.bbmt.2020.01.011. [Epub ahead of print]
    • Genetic predisposition and chromosome instability in neuroblastoma.
    • Tonini GP, Capasso M.
    • Cancer Metastasis Rev. 2020 Jan 11. doi: 10.1007/s10555-020-09843-4. [Epub ahead of print]
    • Germline alterations in patients with biliary tract cancers: A spectrum of significant and previously underappreciated findings.
    • Maynard H, Stadler ZK, Berger MF, Solit DB, Ly M, Lowery MA, Mandelker D, Zhang L, Jordan E, El Dika I, Kemel Y, Ladanyi M, Robson ME, O'Reilly EM, Abou-Alfa GK.
    • Cancer. 2020 Jan 1;126(9):1995-2002. doi: 10.1002/cncr.32740. Epub 2020 Feb 3.
    • An exceptional response to olaparib in relapsed and refractory BRCA2 mutated non-small cell lung cancer in hereditary breast-ovarian cancer syndrome.
    • Talreja VT, Noronha V, Joshi A, Patil V, Prabhash K.
    • South Asian J Cancer. 2020 Jan-Mar;9(1):6. doi: 10.4103/sajc.sajc_157_19.
    • Brief Report: Novel Germline Mutations in DNA Damage Repair in Patients with Malignant Pleural Mesotheliomas.
    • Guo R, DuBoff M, Jayakumaran G, Kris MG, Ladanyi M, Robson ME, Mandelker D, Zauderer MG.
    • J Thorac Oncol. 2019 Dec 27. pii: S1556-0864(19)33852-3. doi: 10.1016/j.jtho.2019.12.111. [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]
    • Germline mutations of SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type and in SMARCA4-deficient undifferentiated uterine sarcoma: Clinical features of a single family and comparison of large cohorts.
    • Connor YD, Miao D, Lin DI, Hayne C, Howitt BE, Dalrymple JL, DeLeonardis KR, Hacker MR, Esselen KM, Shea M.
    • Gynecol Oncol. 2019 Dec 21. pii: S0090-8258(19)31618-X. doi: 10.1016/j.ygyno.2019.10.031. [Epub ahead of print]
    • Simultaneous osteosarcoma and renal cell carcinoma with BRCA1 mutation in a young male adult with prior oligodendroglioma.
    • Dhir A, Li R, Li G, Dean J, Robin NH, Alva E.
    • Pediatr Blood Cancer. 2019 Dec 18:e28116. doi: 10.1002/pbc.28116. [Epub ahead of print]
    • Case report
    • Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.
    • Nassar AH, Abou Alaiwi S, AlDubayan SH, Moore N, Mouw KW, Kwiatkowski DJ, Choueiri TK, Curran C, Berchuck JE, Harshman LC, Nuzzo PV, Chanza NM, Van Allen E, Esplin ED, Yang S, Callis T, Garber JE, Rana HQ, Sonpavde G.
    • Genet Med. 2019 Dec 17. doi: 10.1038/s41436-019-0720-x. [Epub ahead of print]
    • CDH1 (E-Cadherin) Mutation and Gastric Cancer: Genetics, Molecular Mechanisms and Guidelines for Management.
    • Shenoy S.
    • Cancer Manag Res. 2019 Dec 13;11:10477-10486. doi: 10.2147/CMAR.S208818. eCollection 2019.
    • Cancer Susceptibility Mutations in Patients With Urothelial Malignancies.
    • Carlo MI, Ravichandran V, Srinavasan P, Bandlamudi C, Kemel Y, Ceyhan-Birsoy O, Mukherjee S, Mandelker D, Chaim J, Knezevic A, Rana S, Fnu Z, Breen K, Arnold AG, Khurram A, Tkachuk K, Cipolla CK, Regazzi A, Hakimi AA, Al-Ahmadie H, Dalbagni G, Cadoo KA, Walsh MF, Teo MY, Funt SA, Coleman JA, Bochner BH, Iyer G, Solit DB, Stadler ZK, Zhang L, Rosenberg JE, Taylor BS, Robson ME, Berger MF, Vijai J, Bajorin DF, Offit K.
    • J Clin Oncol. 2019 Dec 3:JCO1901395. doi: 10.1200/JCO.19.01395. [Epub ahead of print]
    • [Impact of germline BRCA2 and CHEK2 mutations on time to castration resistance in patients with metastatic hormone-nave prostate cancer].
    • Matveev VB, Kirichek AA, Filippova MG, Savinkova AV, Khalmurzaev OA, Lyubchenko LN.
    • Urologiia. 2019 Dec;(5):79-85.
    • [Article in Russian]
    • Germline and somatic mutations of homologous recombination-associated genes in Japanese ovarian cancer patients.
    • Sugino K, Tamura R, Nakaoka H, Yachida N, Yamaguchi M, Mori Y, Yamawaki K, Suda K, Ishiguro T, Adachi S, Isobe M, Yamaguchi M, Kashima K, Motoyama T, Inoue I, Yoshihara K, Enomoto T.
    • Sci Rep. 2019 Nov 28;9(1):17808. doi: 10.1038/s41598-019-54116-y.
    • Allele-specific expression mediates primary resistance to poly (ADP-ribose) polymerase inhibitor therapy in a case of BRCA1/2 double-germline mutant gastric cancer.
    • Wen L, Li X, Shi J, Zhang S, Wang R, Yao M, Guo J.
    • J Int Med Res. 2019 Nov 27:300060519886226. doi: 10.1177/0300060519886226. [Epub ahead of print]
    • Update: Genetic causes of hereditary pancreatic cancer: BRCA and beyond
    • [No author given]
    • FORCE. XRAYS. 2019 Nov 26.
    • Germline mutations in Thai patients with nonmucinous epithelial ovarian cancer.
    • Manchana T, Phowthongkum P, Teerapakpinyo C.
    • World J Clin Oncol. 2019 Nov 24;10(11):358-368. doi: 10.5306/wjco.v10.i11.358.
    • Preventing Ovarian Cancer in High-risk Women: One Surgery at a Time.
    • Swanson CL, Bakkum-Gamez JN.
    • Clin Obstet Gynecol. 2019 Nov 22. doi: 10.1097/GRF.0000000000000499. [Epub ahead of print]
    • Review
    • Common Germline Mutations in a Patient With Multiple Primary Lung Cancers.
    • Cytryn S, Moreira A, Chachoua A, Sabari J.
    • Clin Lung Cancer. 2019 Nov 21. pii: S1525-7304(19)30322-5. doi: 10.1016/j.cllc.2019.11.005. [Epub ahead of print]
    • Case report
    • Challenging the believed proportion of ovarian cancer attributable to BRCA2 versus BRCA1 pathogenic variants.
    • Flaum N, Crosbie EJ, Woodward ER, Lalloo F, Gareth Evans D.
    • Eur J Cancer. 2019 Nov 21;124:88-90. doi: 10.1016/j.ejca.2019.10.018. [Epub ahead of print]
    • Letter
    • Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.
    • Abdel-Rahman MH, Sample KM, Pilarski R, Walsh T, Grosel T, Kinnamon D, Boru G, Massengill JB, Schoenfield L, Kelly B, Gordon D, Johansson P, DeBenedictis MJ, Singh A, Casadei S, Davidorf FH, White P, Stacey AW, Scarth J, Fewings E, Tischkowitz M, King MC, Hayward NK, Cebulla CM.
    • Ophthalmology. 2019 Nov 18. pii: S0161-6420(19)32274-2. doi: 10.1016/j.ophtha.2019.11.009. [Epub ahead of print]
    • Spectrum of Pathogenic Germline Mutations in Chinese Lung Cancer Patients through Next-Generation Sequencing.
    • Tian P, Cheng X, Zhao Z, Zhang Y, Bao C, Wang Y, Cai S, Ma G, Huang Y.
    • Pathol Oncol Res. 2019 Nov 12. doi: 10.1007/s12253-019-00771-5. [Epub ahead of print]
    • Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.
    • Pouliot GP, Degar J, Hinze L, Kochupurakkal B, Vo CD, Burns MA, Moreau L, Ganesa C, Roderick J, Peirs S, Menten B, Loh ML, Hunger SP, Silverman LB, Harris MH, Stevenson KE, Weinstock DM, Weng AP, Van Vlierberghe P, D'Andrea AD, Gutierrez A.
    • PLoS One. 2019 Nov 13;14(11):e0221288. doi: 10.1371/journal.pone.0221288. eCollection 2019.
    • Potential genetic modifiers for somatic EGFR mutation in lung cancer: a meta-analysis and literature review.
    • Cheng YI, Gan YC, Liu D, Davies MPA, Li WM, Field JK.
    • BMC Cancer. 2019 Nov 8;19(1):1068. doi: 10.1186/s12885-019-6317-6.
    • The BRCA1 c.4096+3A>G Variant Displays Classical Characteristics of Pathogenic BRCA1 Mutations in Hereditary Breast and Ovarian Cancers, But Still Allows Homozygous Viability.
    • Arason A, Agnarsson BA, Johannesdottir G, Johannsson OT, Hilmarsdottir B, Reynisdottir I, Barkardottir RB.
    • Genes (Basel). 2019 Nov 1;10(11). pii: E882. doi: 10.3390/genes10110882.
    • Apatinib as Salvage Treatment in BRCA2-Mutated Advanced Lung Adenocarcinoma.
    • Zeng DX, Huang JA, Jiang JH.
    • Am J Ther. 2019 Nov/Dec;26(6):e747-e748. doi: 10.1097/MJT.0000000000000905.
    • Case report
    • Women With Synchronous or Metachronous Lung and Ovarian Cancer: A Multi-Institutional Report.
    • Mariniello A, Ghisoni E, Righi L, Catino A, Chiari R, Del Conte A, Barbieri F, Cecere F, Gelibter A, Giajlevra M, Parra HS, Zichi C, DI Maio M, Valabrega G, Novello S.
    • In Vivo. 2019 Nov-Dec;33(6):2021-2026. doi: 10.21873/invivo.11699.
    • Clinical factors associated with prolonged response and survival under olaparib as maintenance therapy in BRCA mutated ovarian cancers.
    • Labidi-Galy SI, de La Motte Rouge T, Derbel O, Wolfer A, Kalbacher E, Olivier T, Combes JD, Heimgartner-Hu K, Tredan O, Guevara H, Heudel PE, Reverdy T, Bazan F, Heinzelmann-Schwarz V, Fehr M, de Castelbajac V, Vaflard P, Crivelli L, Bonadona V, Viassolo V, Buisson A, Golmard L, Rodrigues M, Ray-Coquard I.
    • Gynecol Oncol. 2019 Nov;155(2):262-269. doi: 10.1016/j.ygyno.2019.09.008. Epub 2019 Oct 8.

    Commentary:

    Are there clinical factors that can predict prolonged survival of patients receiving olaparib as maintenance therapy for BRCA-mutated ovarian cancer?

    • Prevalence and oncologic outcomes of BRCA1/2 mutation and variant of unknown significance in epithelial ovarian carcinoma patients in Korea.
    • Seo JH, Jeong SY, Kim MS, Kang JH, Paik ES, Lee YY, Kim TJ, Lee JW, Kim BG, Bae DS, Choi CH.
    • Obstet Gynecol Sci. 2019 Nov;62(6):411-419. doi: 10.5468/ogs.2019.62.6.411. Epub 2019 Oct 11.
    • Genetic counselling and personalised risk assessment in the Australian pancreatic cancer screening program.
    • Dwarte T, McKay S, Johns A, Tucker K, Spigelman AD, Williams D, Stoita A.
    • Hered Cancer Clin Pract. 2019 Oct 23;17:30. doi: 10.1186/s13053-019-0129-1.
    • Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.
    • Homma TK, Freire BL, Honjo Kawahira RS, Dauber A, Funari MFA, Lerario AM, Nishi MY, Albuquerque EV, Vasques GA, Collett-Solberg PF, Miura Sugayama SM, Bertola DR, Kim CA, Arnhold IJP, Malaquias AC, Jorge AAL.
    • J Pediatr. 2019 Oct 17. pii: S0022-3476(19)31082-0. doi: 10.1016/j.jpeds.2019.08.024. [Epub ahead of print]
    • Treatment of Pediatric Glioblastoma with Combination Olaparib and Temozolomide Demonstrates 2-Year Durable Response.
    • Valiakhmetova A, Gorelyshev S, Konovalov A, Trunin Y, Savateev A, Kram DE, Severson E, Hemmerich A, Edgerly C, Duncan D, Britt N, Huang RSP, Elvin J, Miller V, Ross JS, Gay L, McCorkle J, Rankin A, Erlich RL, Chudnovsky Y, Ramkissoon SH.
    • Oncologist. 2019 Oct 16. pii: theoncologist.2019-0603. doi: 10.1634/theoncologist.2019-0603. [Epub ahead of print]
    • Germline mutations in cancer-predisposition genes in patients with biliary tract cancer.
    • Terashima T, Umemoto K, Takahashi H, Hosoi H, Takai E, Kondo S, Sakamoto Y, Mitsunaga S, Ohno I, Hashimoto Y, Sasaki M, Ikeda M, Shimada K, Kaneko S, Yachida S, Sugano K, Okusaka T, Morizane C.
    • Oncotarget. 2019 Oct 15;10(57):5949-5957. doi: 10.18632/oncotarget.27224. eCollection 2019 Oct 15.
    • Melanoma predisposition - A limited role for germline BRCA1 and BRCA2 variants.
    • Adams DJ, Bishop DT, Robles-Espinoza CD.
    • Pigment Cell Melanoma Res. 2019 Oct 14. doi: 10.1111/pcmr.12833. [Epub ahead of print]
    • Review, Commentary
    • A case report of a dramatic response to olaparib in a patient with metastatic pancreatic cancer harboring a germline BRCA2 mutation.
    • Wang H, Mao C, Li N, Sun L, Zheng Y, Xu N.
    • Medicine (Baltimore). 2019 Oct;98(40):e17443. doi: 10.1097/MD.0000000000017443.
    • Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma.
    • Johansson PA, Nathan V, Bourke LM, Palmer JM, Zhang T, Symmons J, Howlie M, Patch AM, Read J, Holland EA, Schmid H, Warrier S, Glasson W, Höiom V, Wadt K, Jönsson G, Olsson H, Ingvar C, Mann G, Brown KM, Hayward NK, Pritchard AL.
    • Melanoma Res. 2019 Oct;29(5):483-490. doi: 10.1097/CMR.0000000000000613.
    • Targeted germline sequencing of patients with three or more primary melanomas reveals high rate of pathogenic variants.
    • Li C, Liu T, Tavtigian SV, Boucher K, Kohlmann W, Cannon-Albright L, Grossman D.
    • Melanoma Res. 2019 Sep 24. doi: 10.1097/CMR.0000000000000645. [Epub ahead of print]
    • Homologous recombination in lung cancer, germline and somatic mutations, clinical and phenotype characterization.
    • Kadouri L, Rottenberg Y, Zick A, Hamburger T, Lipson D, Peretz T, Nechushtan H.
    • Lung Cancer. 2019 Sep 12;137:48-51. doi: 10.1016/j.lungcan.2019.09.008. [Epub ahead of print]
    • Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition.
    • Tedaldi G, Pirini F, Tebaldi M, Zampiga V, Cangini I, Danesi R, Arcangeli V, Ravegnani M, Abou Khouzam R, Molinari C, Oliveira C, Morgagni P, Saragoni L, Bencivenga M, Ulivi P, Amadori D, Martinelli G, Falcini F, Ranzani GN, Calistri D.
    • Cancers (Basel). 2019 Sep 11;11(9). pii: E1340. doi: 10.3390/cancers11091340.
    • Germline BRCA-associated Endometrial Carcinoma is a Distinct Clinicopathologic Entity.
    • de Jonge MM, Ritterhouse LL, de Kroon CD, Vreeswijk MPG, Segal JP, Puranik R, Study H, Hollema H, Rookus MA, van Asperen CJ, Van Leeuwen FE, Smit VTHBM, Howitt BE, Bosse T.
    • Clin Cancer Res. 2019 Sep 6. pii: clincanres.0848.2019. doi: 10.1158/1078-0432.CCR-19-0848. [Epub ahead of print]
    • Rare Hereditary Burden associated with a Hypercalcemic Small-Cell Carcinoma of Cervix in a Young Female Patient.
    • Hruška L, Sirák I, Laco J, Fridrichová P, Nosková H, Slabý O, Pál K, Bočkayová V, Hodek M, Petera J.
    • Klin Onkol. 2019 Fall;32(6):456-462. doi: 10.14735/amko2019456.
    • Inherited cancer syndromes in 220 Italian ovarian cancer patients.
    • Carnevali I, Riva C, Chiaravalli AM, Sahnane N, Di Lauro E, Viel A, Rovera F, Formenti G, Ghezzi F, Sessa F, Tibiletti MG.
    • Cancer Genet. 2019 Sep;237:55-62. doi: 10.1016/j.cancergen.2019.06.005. Epub 2019 Jun 12.
    • Precision medicine for metastatic colorectal cancer: an evolving era.
    • Guler I, Askan G, Klostergaard J, Sahin IH.
    • Expert Rev Gastroenterol Hepatol. 2019 Aug 31. doi: 10.1080/17474124.2019.1663174. [Epub ahead of print]
    • Review
    • Germline and somatic mutations of multi-gene panel in Chinese patients with epithelial ovarian cancer: a prospective cohort study.
    • Li W, Shao D, Li L, Wu M, Ma S, Tan X, Zhong S, Guo F, Wang Z, Ye M.
    • J Ovarian Res. 2019 Aug 31;12(1):80. doi: 10.1186/s13048-019-0560-y.
    • A region-based gene association study combined with a leave-one-out sensitivity analysis identifies SMG1 as a pancreatic cancer susceptibility gene.
    • Wong C, Chen F, Alirezaie N, Wang Y, Cuggia A, Borgida A, Holter S, Lenko T, Domecq C; Alzheimer’s Disease Neuroimaging Initiative, Petersen GM6, Syngal S, Brand R, Rustgi AK, Cote ML, Stoffel E, Olson SH, Roberts NJ, Akbari MR, Majewski J, Klein AP, Greenwood CMT, Gallinger S, Zogopoulos G.
    • PLoS Genet. 2019 Aug 30;15(8):e1008344. doi: 10.1371/journal.pgen.1008344. [Epub ahead of print]
    • A novel BRCA1 germline mutation promotes triple-negative breast cancer cells progression and enhances sensitivity to DNA damage agents.
    • Xu K, Shi Y, Wang X, Chen Y, Tang L, Guan X.
    • Cancer Genet. 2019 Aug 23;239:26-32. doi: 10.1016/j.cancergen.2019.08.004. [Epub ahead of print]
    • Familial pancreatic adenocarcinoma: A retrospective analysis of germline genetic testing in a French multicentre cohort.
    • Mathias S, Clément K, Meriem B, Mickael M, Chrystelle C, Florence C, Mélissa P, Philippe J, Olivier I, Sandra G, Louis M, Jérôme C, Angélique R, Marie M, Philippe L, Vinciane R, William G, Nadem S, Pascal H.
    • Clin Genet. 2019 Aug 21. doi: 10.1111/cge.13629. [Epub ahead of print]
    • RE: BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis.
    • Yang H, Shi L, Wang Y, Duan G, Wang Y.
    • J Natl Cancer Inst. 2019 Aug 19. pii: djz162. doi: 10.1093/jnci/djz162. [Epub ahead of print]
    • Letter, Commentary

    Original research:

    BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis.

    Letter, Reply:

    Response to Yang, Shi, Wang, et al.

    • BRCA mutation frequency and clinical features of ovarian cancer patients: A report from a Chinese study group.
    • Bu H, Chen J, Li Q, Hou J, Wei Y, Yang X, Ma Y, He H, Zhang Y, Kong B.
    • J Obstet Gynaecol Res. 2019 Aug 14. doi: 10.1111/jog.14090. [Epub ahead of print]
    • BRCA mutation in high grade epithelial ovarian cancers.
    • Manchana T, Phoolcharoen N, Tantbirojn P.
    • Gynecol Oncol Rep. 2019 Aug 13;29:102-105. doi: 10.1016/j.gore.2019.07.007. eCollection 2019 Aug.
    • BRCA2 loss-of-function germline mutations are associated with esophageal squamous cell carcinoma risk in Chinese.
    • Ko JM, Ning L, Zhao XK, Chai AW, Lei LC, Choi SSA, Tao L, Law S, Kwong A, Lee NP, Chan KT, Lo A, Song X, Chen PN, Chang YL, Wang LD, Lung ML.
    • Int J Cancer. 2019 Aug 9. doi: 10.1002/ijc.32619. [Epub ahead of print]
    • An Analysis of Patients with DNA Repair Pathway Mutations Treated with a PARP Inhibitor.
    • Borazanci E, Korn R, Liang WS, Guarnieri C, Haag S, Snyder C, Hendrickson K, Caldwell L, Von Hoff D, Jameson G.
    • Oncologist. 2019 Aug 7. pii: theoncologist.2018-0905. doi: 10.1634/theoncologist.2018-0905. [Epub ahead of print]
    • Screening for Pancreatic Cancer.
    • Lucas AL, Kastrinos F.
    • JAMA. 2019 Aug 6;322(5):407-408. doi: 10.1001/jama.2019.9690.

    Guidelines:

    Screening for Pancreatic Cancer: US Preventive Services Task Force Reaffirmation Recommendation Statement.

    Editorial:

    Screening for Pancreatic Cancer Gets a D, But the Student Is Improving.

    Editorial:

    Screening for Pancreatic Cancer-Is There Hope?

    • Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer.
    • Zhunussova G, Afonin G, Abdikerim S, Jumanov A, Perfilyeva A, Kaidarova D, Djansugurova L.
    • Front Oncol. 2019 Aug 2;9:673. doi: 10.3389/fonc.2019.00673. eCollection 2019.
    • Prevalence and clinical significance of pathogenic germline BRCA1/2 mutations in Chinese non-small cell lung cancer patients.
    • Hu X, Yang D, Li Y, Li L, Wang Y, Chen P, Xu S, Pu X, Zhu W, Deng P, Ye J, Zhang H, Lizaso A, Liu H, Mao X, Huang H, Chu Q, Hu C.
    • Cancer Biol Med. 2019 Aug;16(3):556-564. doi: 10.20892/j.issn.2095-3941.2018.0506.
    • Pilot study of rapid MR pancreas screening for patients with BRCA mutation.
    • Corrias G, Raeside MC, Agostini A, Huicochea-Castellanos S, Aramburu-Nunez D, Paudyal R, Shukla-Dave A, Smelianskaia O, Capanu M, Zheng J, Fung M, Kelsen DP, Mangino DA, Robson ME, Goldfrank DJ, Carter J, Allen PJ, Conti B, Monti S, Do RKG, Mannelli L.
    • Eur Radiol. 2019 Aug;29(8):3976-3985. doi: 10.1007/s00330-018-5975-0. Epub 2019 Jan 28.
    • Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
    • Stradella A, Del Valle J, Rofes P, Feliubadaló L, Grau Garces È, Velasco À, González S, Vargas G, Izquierdo Á, Campos O, Tornero E, Navarro M, Balmaña-Gelpi J, Capellá G, Pineda M, Brunet J, Lázaro C.
    • J Med Genet. 2019 Aug;56(8):521-525. doi: 10.1136/jmedgenet-2018-105700. Epub 2018 Dec 22.
    • Association of Germline BRCA2 Mutations With the Risk of Pediatric or Adolescent Non-Hodgkin Lymphoma.
    • Wang Z, Wilson CL, Armstrong GT, Hudson MM, Zhang J, Nichols KE, Robison LL.
    • JAMA Oncol. 2019 Jul 25. doi: 10.1001/jamaoncol.2019.2203. [Epub ahead of print]

    Press: Germline BRCA2 Mutations Linked to Pediatric Non-Hodgkin Lymphoma Risk. (GenomeWeb)

    Press: Pediatric Lymphoma Joins Family of BRCA2 Cancers. (Medscape Oncology)

    • Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
    • Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A, Lopez-Köstner F, Gluck N, Katz LH, Heinimann K, Vaccaro CA, Büttner R, Görgens H, Holinski-Feder E, Morak M, Holzapfel S, Hüneburg R, Knebel Doeberitz MV, Loeffler M, Rahner N, Schackert HK, Steinke-Lange V, Schmiegel W, Vangala D, Pylvänäinen K, Renkonen-Sinisalo L, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Wadt K, Therkildsen C, Okkels H, Ketabi Z, Moreira L, Sánchez A, Serra-Burriel M, Pineda M, Navarro M, Blanco I, Green K, Lalloo F, Crosbie EJ, Hill J, Denton OG, Frayling IM, Rødland EA, Vasen H, Mints M, Neffa F, Esperon P, Alvarez K, Kariv R, Rosner G, Pinero TA, Gonzalez ML, Kalfayan P, Tjandra D, Winship IM, Macrae F, Möslein G, Mecklin JP, Nielsen M, Møller P.
    • Genet Med. 2019 Jul 24. doi: 10.1038/s41436-019-0596-9. [Epub ahead of print]
    • Outcome of Pancreatic Cancer Surveillance Among High-Risk Individuals Tested for Germline Mutations in BRCA1 and BRCA2.
    • Saldia A, Olson SH, Nunes P, Liang X, Samson ML, Salo-Mullen E, Marcell V, Stadler ZK, Allen PJ, Offit K, Kurtz RC.
    • Cancer Prev Res (Phila). 2019 Jul 23. pii: canprevres.0272.2018. doi: 10.1158/1940-6207.CAPR-18-0272. [Epub ahead of print]
    • A PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms.
    • Kasamo K, Nakamura M, Daimou Y, Sano A.
    • Neurosci Res. 2019 Jul 23. pii: S0168-0102(19)30197-X. doi: 10.1016/j.neures.2019.07.006. [Epub ahead of print]
    • Case report
    • Familial lobular breast cancer: Is testing for germline CDH1 mutations necessary?
    • Corso G, Sacchini V, Pravettoni G, Veronesi P, Bonanni B.
    • Eur J Surg Oncol. 2019 Jul 19. pii: S0748-7983(19)30578-5. doi: 10.1016/j.ejso.2019.07.020. [Epub ahead of print]
    • Immunogenomics of Metastatic Clear-Cell Renal Cell Carcinoma: Remarkable Response to Nivolumab in a Patient With a Pathogenic Germ Line BRCA1 Mutation.
    • Beulque Y, Deleu AL, Punie K, De Wever L, Baldewijns M, Caruso S, Couchy G, Zucman-Rossi J, Beuselinck B.
    • Clin Genitourin Cancer. 2019 Jul 11. pii: S1558-7673(19)30202-2. doi: 10.1016/j.clgc.2019.06.013. [Epub ahead of print]
    • Case report
    • A Review of the Hereditary Component of Triple Negative Breast Cancer: High- and Moderate-Penetrance Breast Cancer Genes, Low-Penetrance Loci, and the Role of Nontraditional Genetic Elements.
    • Ellsworth DL, Turner CE, Ellsworth RE.
    • J Oncol. 2019 Jul 9;2019:4382606. doi: 10.1155/2019/4382606. eCollection 2019.
    • Frequency of germline mutations in BRCA1 and BRCA2 in ovarian cancer patients and their effect on treatment outcome.
    • Ashour M, Ezzat Shafik H.
    • Cancer Manag Res. 2019 Jul 8;11:6275-6284. doi: 10.2147/CMAR.S206817. eCollection 2019.
    • Frequency of Pathogenic Germline Variants in CDH1, BRCA2, CHEK2, PALB2, BRCA1, and TP53 in Sporadic Lobular Breast Cancer.
    • Petridis C, Arora I, Shah V, Moss CL, Mera A, Clifford A, Gillett C, Pinder SE, Tomlinson I, Roylance R, Simpson MA, Sawyer EJ.
    • Cancer Epidemiol Biomarkers Prev. 2019 Jul;28(7):1162-1168. doi: 10.1158/1055-9965.EPI-18-1102.
    • The first Japanese nationwide multicenter study of BRCA mutation testing in ovarian cancer: CHARacterizing the cross-sectionaL approach to Ovarian cancer geneTic TEsting of BRCA (CHARLOTTE).
    • Enomoto T, Aoki D, Hattori K, Jinushi M, Kigawa J, Takeshima N, Tsuda H, Watanabe Y, Yoshihara K, Sugiyama T.
    • Int J Gynecol Cancer. 2019 Jul;29(6):1043-1049. doi: 10.1136/ijgc-2019-000384.
    • Current Knowledge of Germline Genetic Risk Factors for the Development of Non-Medullary Thyroid Cancer.
    • Hińcza K, Kowalik A, Kowalska A.
    • Genes (Basel). 2019 Jun 26;10(7). pii: E482. doi: 10.3390/genes10070482.
    • High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer.
    • Bertelsen B, Tuxen IV, Yde CW, Gabrielaite M, Torp MH, Kinalis S, Oestrup O, Rohrberg K, Spangaard I, Santoni-Rugiu E, Wadt K, Mau-Sorensen M, Lassen U, Nielsen FC.
    • NPJ Genom Med. 2019 Jun 21;4:13. doi: 10.1038/s41525-019-0087-6. eCollection 2019.
    • Two synchronous malignancies: nodular melanoma and renal cell carcinoma in a patient with an underlying germline BRCA2 mutation.
    • Snow A, Ricker C, In GK.
    • BMJ Case Rep. 2019 Jun 20;12(6). pii: e227625. doi: 10.1136/bcr-2018-227625.
    • Case report
    • Germline pathogenic variants in 7,636 Japanese patients with prostate cancer and 12,366 controls.
    • Momozawa Y, Iwasaki Y, Hirata M, Liu X, Kamatani Y, Takahashi A, Sugano K, Yoshida T, Murakami Y, Matsuda K, Nakagawa H, Spurdle AB, Kubo M.
    • J Natl Cancer Inst. 2019 Jun 19. pii: djz124. doi: 10.1093/jnci/djz124. [Epub ahead of print]
    • Next Generation Sequencing Reveals Novel Mutations in Mismatch Repair Genes and Other Cancer Predisposition Genes in Asian Patients with Suspected Lynch Syndrome.
    • Ow SGW, Tan KT, Yang H, Yap HL, Sapari NSB, Ong , Soong , Lee SC.
    • Clin Colorectal Cancer. 2019 Jun 7. pii: S1533-0028(19)30117-3. doi: 10.1016/j.clcc.2019.05.007. [Epub ahead of print]
    • Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
    • Liyanage UE, Law MH, Han X, An J, Ong JS, Gharahkhani P, Gordon S, Neale RE, Olsen CM, MacGregor S, Whiteman DC.
    • Hum Mol Genet. 2019 Jun 7. pii: ddz121. doi: 10.1093/hmg/ddz121. [Epub ahead of print]
    • [Contribution of Massive Parallel Sequencing to Diagnosis of Hereditary Ovarian Cancer in the Czech Republic.]
    • Soukupová J, Lhotová K, Zemánková P, Vočka M, Janatová M, Stolařová L, Borecká M, Kleiblová P, Macháčková E, Foretová L, Koudová M, Lhota F, Tavandzis S, Zikán M, Stránecký V, Veselá K, Panczak A, Kotlas J, Kleibl Z.
    • Klin Onkol. 2019 Summer;32(Supplementum2):72-78. doi: 10.14735/amko2019S72.
    • Prevalence, spectrum, and founder effect of BRCA1 and BRCA2 mutations in epithelial ovarian cancer from the Middle East.
    • Siraj AK, Bu R, Iqbal K, Siraj N, Al-Haqawi W, Al-Badawi IA, Parvathareddy SK, Masoodi T, Tulbah A, Al-Dayel F, Al-Kuraya KS.
    • Hum Mutat. 2019 Jun;40(6):729-733. doi: 10.1002/humu.23736. Epub 2019 Mar 18.
    • Cases and evidence for panel testing in cancer genetics: Is site-specific testing dead?
    • Thomas MH, Higgs LK, Modesitt SC, Schroen AT, Ring KL, Dillon PM.
    • J Genet Couns. 2019 Jun;28(3):700-707. doi: 10.1002/jgc4.1044. Epub 2019 Feb 1.
    • Case report
    • Talking Genes in Breast and Pancreatic Malignancies.
    • Barbara M, Tsen A, Tenner L, Rosenkranz L.
    • Mater Sociomed. 2019 Jun;31(2):146-149. doi: 10.5455/msm.2019.31.146-149.
    • Metaplastic breast cancer has a poor response to neoadjuvant systemic therapy.
    • Al-Hilli Z, Choong G, Keeney MG, Visscher DW, Ingle JN, Goetz MP, Jakub JW.
    • Breast Cancer Res Treat. 2019 May 22. doi: 10.1007/s10549-019-05264-2. [Epub ahead of print]
    • Curation and bioinformatic analysis of strabismus genes supports functional heterogeneity and proposes candidate genes with connections to RASopathies.
    • Ye XC, van der Lee R, Wasserman WW.
    • Gene. 2019 May 20;697:213-226. doi: 10.1016/j.gene.2019.02.020. Epub 2019 Feb 15.
    • Universal tumor DNA BRCA1/2 testing of ovarian cancer: prescreening PARPi treatment and genetic predisposition.
    • Vos JR, Fakkert IE, de Hullu JA, van Altena AM, Sie AS, Ouchene H, Willems RW, Nagtegaal ID, Jongmans MCJ, Mensenkamp AR, Woldringh GH, Bulten J, Leter EM, Kets CM, Simons M, Ligtenberg MJL, Hoogerbrugge N.
    • J Natl Cancer Inst. 2019 May 11. pii: djz080. doi: 10.1093/jnci/djz080. [Epub ahead of print]

    Letter, Comment:

    RE: Universal tumor DNA BRCA1/2 testing of ovarian cancer: prescreening PARPi treatment and genetic predisposition.

    • FANCM, RAD1, CHEK1 and TP53I3 act as BRCA-like tumor suppressors and are mutated in hereditary ovarian cancer.
    • Lopes JL, Chaudhry S, Lopes GS, Levin NK, Tainsky MA.
    • Cancer Genet. 2019 May 8. pii: S2210-7762(19)30037-7. doi: 10.1016/j.cancergen.2019.04.061. [Epub ahead of print]
    • Alterations in DNA damage repair genes in primary liver cancer.
    • Lin J, Shi J, Guo H, Yang X, Jiang Y, Long J, Bai Y, Wang D, Yang X, Wan X, Zhang L, Pan J, Hu K, Guan M, Huo L, Sang X, Wang K, Zhao H.
    • Clin Cancer Res. 2019 May 8. pii: clincanres.0127.2019. doi: 10.1158/1078-0432.CCR-19-0127. [Epub ahead of print]
    • Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years.
    • Petridis C, Arora I, Shah V, Megalios A, Moss C, Mera A, Clifford A, Gillett C, Pinder SE, Tomlinson I, Roylance R, Simpson MA, Sawyer EJ.
    • Breast Cancer Res. 2019 May 6;21(1):58. doi: 10.1186/s13058-019-1143-y.
    • Screening for hereditary cancers in patients with endometrial cancer reveals a high frequency of germline mutations in cancer predisposition genes.
    • Tian W, Bi R, Ren Y, He H, Shi S, Shan B, Yang W, Wang Q, Wang H.
    • Int J Cancer. 2019 May 4. doi: 10.1002/ijc.32389. [Epub ahead of print]
    • Mucinous Tubular and Spindle-Cell Carcinoma of the Kidney: Clinical Features, Genomic Profiles, and Treatment Outcomes.
    • Ged Y, Chen YB, Knezevic A, Donoghue MTA, Carlo MI, Lee CH, Feldman DR, Patil S, Hakimi AA, Russo P, Voss MH, Motzer RJ.
    • Clin Genitourin Cancer. 2019 May 2. pii: S1558-7673(19)30132-6. doi: 10.1016/j.clgc.2019.04.006. [Epub ahead of print]
    • Case report
    • Ampullary cancer: Evaluation of somatic and germline genetic alterations and association with clinical outcomes.
    • Wong W, Lowery MA, Berger MF, Kemel Y, Taylor B, Zehir A, Srinivasan P, Bandlamudi C, Chou J, Capanu M, Varghese A, Yu KH, Iacobuzio-Donahue CA, Shia J, Klimstra DS, Jarnagin WR, Stadler ZK, O'Reilly EM.
    • Cancer. 2019 May 1;125(9):1441-1448. doi: 10.1002/cncr.31951. Epub 2019 Jan 8.
    • Deleterious Germline Mutations Are a Risk Factor for Neoplastic Progression Among High-Risk Individuals Undergoing Pancreatic Surveillance.
    • Abe T, Blackford AL, Tamura K, Ford M, McCormick P, Chuidian M, Almario JA, Borges M, Lennon AM, Shin EJ, Klein AP, Hruban RH, Canto MI, Goggins M.
    • J Clin Oncol. 2019 May 1;37(13):1070-1080. doi: 10.1200/JCO.18.01512. Epub 2019 Mar 18.
    • Carcinoid tumor of lung and BRCA mutation: a case report.
    • Shariff MZ, Curras-Martin D, Campbell N, Gupta V, Mikhail JD, Levitt MJ, Hossain MA.
    • J Med Case Rep. 2019 May 1;13(1):132. doi: 10.1186/s13256-019-2052-5.
    • Impact of BRCA1/2 gene mutations on survival of patients with pancreatic cancer: A case-series analysis.
    • Navarro EB, López EV, Quijano Y, Caruso R, Ferri V, Durand H, Cabrera IF, Reques ED, Ielpo B, Glagolieva AY, Plaza C.
    • Ann Hepatobiliary Pancreat Surg. 2019 May;23(2):200-205. doi: 10.14701/ahbps.2019.23.2.200. Epub 2019 May 31.
    • Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases.
    • Morgan RD, Burghel GJ, Flaum N, Bulman M, Clamp AR, Hasan J, Mitchell CL, Schlecht H, Woodward ER, Lallo FI, Crosbie EJ, Edmondson RJ, Wallace AJ, Jayson GC, Evans DGR.
    • J Med Genet. 2019 May;56(5):301-307. doi: 10.1136/jmedgenet-2018-105792. Epub 2019 Jan 25.
    • Are BRCA1 and BRCA2 gene mutation patients underscreened for pancreatic adenocarcinoma?
    • Roch AM, Schneider J, Carr RA, Lancaster WP, House MG, Zyromski NJ, Nakeeb A, Schmidt CM, Ceppa EP.
    • J Surg Oncol. 2019 May;119(6):777-783. doi: 10.1002/jso.25376. Epub 2019 Jan 12.
    • Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics - the Cohort study of TP53 carrier early onset breast cancer (COPE study).
    • Packwood K, Martland G, Sommerlad M, Shaw E, Moutasim K, Thomas G, Bateman A, Jones L, Haywood L, Evans DG, Birch JM, Alsalmi OA, Henderson A, Poplawski N, Eccles DM.
    • J Pathol Clin Res. 2019 Apr 30. doi: 10.1002/cjp2.133. [Epub ahead of print]
    • Analysis of DNA Damage Response Gene Alterations and Tumor Mutational Burden Across 17,486 Tubular Gastrointestinal Carcinomas: Implications for Therapy.
    • Parikh AR, He Y, Hong TS, Corcoran RB, Clark JW, Ryan DP, Zou L, Ting DT, Catenacci DV, Chao J, Fakih M, Klempner SJ, Ross JS, Frampton GM, Miller VA, Ali SM, Schrock AB.
    • Oncologist. 2019 Apr 30. pii: theoncologist.2019-0034. doi: 10.1634/theoncologist.2019-0034. [Epub ahead of print]
    • Pancreatic acinar cell carcinoma is associated with BRCA2 germline mutations: a case report and literature review.
    • Kryklyva V, Haj Mohammad N, Morsink FHM, Ligtenberg MJL, Offerhaus GJA, Nagtegaal ID, de Leng WWJ, Brosens LAA.
    • Cancer Biol Ther. 2019 Apr 19:1-7. doi: 10.1080/15384047.2019.1595274. [Epub ahead of print]
    • Multi-region sequencing unveils novel actionable targets and spatial heterogeneity in esophageal squamous cell carcinoma.
    • Yan T, Cui H, Zhou Y, Yang B, Kong P, Zhang Y, Liu Y, Wang B, Cheng Y, Li J, Guo S, Xu E, Liu H, Cheng C, Zhang L, Chen L, Zhuang X, Qian Y, Yang J, Ma Y, Li H, Wang F, Liu J, Liu X, Su D, Wang Y, Sun R, Guo S, Li Y, Cheng X, Liu Z, Zhan Q, Cui Y.
    • Nat Commun. 2019 Apr 11;10(1):1670. doi: 10.1038/s41467-019-09255-1.
    • Comparative genetic profiling aids diagnosis and clinical decision making in challenging cases of CUP syndrome.
    • Bochtler T, Endris V, Leichsenring J, Reiling A, Neumann O, Volckmar AL, Kirchner M, Allgäuer M, Schirmacher P, Krämer A, Stenzinger A.
    • Int J Cancer. 2019 Apr 9. doi: 10.1002/ijc.32316. [Epub ahead of print]
    • Defective homologous recombination DNA repair as therapeutic target in advanced chordoma.
    • Gröschel S, Hübschmann D, Raimondi F, Horak P, Warsow G, Fröhlich M, Klink B, Gieldon L, Hutter B, Kleinheinz K, Bonekamp D, Marschal O, Chudasama P, Mika J, Groth M, Uhrig S, Krämer S, Heining C, Heilig CE, Richter D, Reisinger E, Pfütze K, Eils R, Wolf S, von Kalle C, Brandts C, Scholl C, Weichert W, Richter S, Bauer S, Penzel R, Schröck E, Stenzinger A, Schlenk RF, Brors B, Russell RB, Glimm H, Schlesner M, Fröhling S.
    • Nat Commun. 2019 Apr 9;10(1):1635. doi: 10.1038/s41467-019-09633-9.
    • A Pediatric Case of Transformed Mycosis Fungoides in a BRCA2 Positive Patient.
    • Gross AM, Turner J, Kirkorian AY, Okoye GA, Luca DC, Bornhorst M, Jacobs SS, Williams KM, Schore RJ.
    • J Pediatr Hematol Oncol. 2019 Apr 8. doi: 10.1097/MPH.0000000000001481. [Epub ahead of print]
    • Case report
    • Multidisciplinary management of CDH1 germinal mutation and prophylactic management hereditary lobular breast cancer: A case report.
    • Mirandola S, Pellini F, Granuzzo E, Lorenzi M, Accordini B, Ulgelmo M, Invento A, Lombardi D, Caldana M, Pollini GP.
    • Int J Surg Case Rep. 2019 Apr 5;58:92-95. doi: 10.1016/j.ijscr.2019.03.053. [Epub ahead of print]
    • Germline BRCA1 Deletion as Driver Mutation for Metastatic Urachal Adenocarcinoma in Patient Who Achieved Complete Response to Rucaparib.
    • Seto T, Pujare D, Song MN, Lee J, Huber R, Sam D, Pan M.
    • J Oncol Pract. 2019 Apr 2:JOP1800708. doi: 10.1200/JOP.18.00708. [Epub ahead of print]
    • Case report
    • PARP Inhibitors for Maintenance Therapy in Pancreatic Cancer?
    • Castellino AM.
    • Medscape. Medscape Oncology. 2019 Apr 2.

    Conference abstract: CT234 - A Phase II, single arm study of maintenance rucaparib in patients with platinum-sensitive advanced pancreatic cancer and a pathogenic germline or somatic mutation in BRCA1, BRCA2 or PALB2 (AACR Annual Meeting 2019)

    • The repertoire of genetic alterations in salivary duct carcinoma including a novel HNRNPH3-ALK rearrangement.
    • Dogan S, Ng CKY, Xu B, Kumar R, Wang L, Edelweiss M, Scott SN, Zehir A, Drilon A, Morris LGT, Lee NY, Antonescu CR, Ho AL, Katabi N, Berger MF, Reis-Filho JS.
    • Hum Pathol. 2019 Apr 1. pii: S0046-8177(19)30049-8. doi: 10.1016/j.humpath.2019.03.004. [Epub ahead of print]
    • [Article in Spanish]
    • Clinicopathologic and Molecular Features of Metastatic Follicular Thyroid Carcinoma in Patients Presenting With a Thyroid Nodule Versus a Distant Metastasis.
    • Cracolici V, Kadri S, Ritterhouse LL, Segal JP, Wanjari P, Cipriani NA.
    • Am J Surg Pathol. 2019 Apr;43(4):514-522. doi: 10.1097/PAS.0000000000001208.
    • Detection of Pathogenic Germline Variants Among Patients With Advanced Colorectal Cancer Undergoing Tumor Genomic Profiling for Precision Medicine.
    • You YN, Borras E, Chang K, Price BA, Mork M, Chang GJ, Rodriguez-Bigas MA, Bednarski BK, Meric-Bernstam F, Vilar E.
    • Dis Colon Rectum. 2019 Apr;62(4):429-437. doi: 10.1097/DCR.0000000000001322.
    • Radiogenomics of rectal adenocarcinoma in the era of precision medicine: A pilot study of associations between qualitative and quantitative MRI imaging features and genetic mutations.
    • Horvat N, Veeraraghavan H, Pelossof RA, Fernandes MC, Arora A, Khan M, Marco M, Cheng CT, Gonen M, Golia Pernicka JS, Gollub MJ, Garcia-Aguillar J, Petkovska I.
    • Eur J Radiol. 2019 Apr;113:174-181. doi: 10.1016/j.ejrad.2019.02.022. Epub 2019 Feb 18.
    • Referral frequency, attrition rate, and outcomes of germline testing in patients with pancreatic adenocarcinoma.
    • Walker EJ, Carnevale J, Pedley C, Blanco A, Chan S, Collisson EA, Tempero MA, Ko AH.
    • Fam Cancer. 2019 Apr;18(2):241-251. doi: 10.1007/s10689-018-0106-2.
    • Clinical spectrum and pleiotropic nature of CDH1 germline mutations.
    • Figueiredo J, Melo S, Carneiro P, Moreira AM, Fernandes MS, Ribeiro AS, Guilford P, Paredes J, Seruca R.
    • J Med Genet. 2019 Apr;56(4):199-208. doi: 10.1136/jmedgenet-2018-105807. Epub 2019 Jan 19.
    • Lymph node metastasis in oral cancer is strongly associated with chromosomal instability and DNA repair defects.
    • Biswas NK, Das C, Das S, Maitra A, Nair S, Gupta T, D'Cruz AK, Sarin R, Majumder PP.
    • Int J Cancer. 2019 Mar 28. doi: 10.1002/ijc.32305. [Epub ahead of print]
    • Retrospective Survival Analysis of Patients With Resected Pancreatic Ductal Adenocarcinoma and a Germline BRCA or PALB2 Mutation.
    • Yu S, Agarwal P, Mamtani R, Symecko H, Spielman K, O'Hara M, O'Dwyer PJ, Schneider C, Teitelbaum U, Nathanson KL, Domchek SM, Reiss KA.
    • JCO Precis Oncol. 2019 Dec [2019 Mar 28];3:1-11. doi: 10.1200/PO.18.00271.
    • Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer.
    • Díaz-Gay M, Franch-Expósito S, Arnau-Collell C, Park S, Supek F, Muñoz J, Bonjoch L, Gratacós-Mulleras A, Sánchez-Rojas PA, Esteban-Jurado C, Ocaña T, Cuatrecasas M, Vila-Casadesús M, Lozano JJ, Parra G, Laurie S, Beltran S, Consortium E, Castells A, Bujanda L, Cubiella J, Balaguer F, Castellví-Bel S.
    • Cancers (Basel). 2019 Mar 13;11(3). pii: E362. doi: 10.3390/cancers11030362.
    • Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype.
    • Paperna T, Sharon-Shwartzman N, Kurolap A, Goldberg Y, Moustafa N, Carasso Y, Feinstien M, Mory A, Reznick-Levi G, Gonzaga-Jauregui C, Shuldiner AR, Basel-Salmon L, Ofran Y, Half EE, Baris Feldman H.
    • J Med Genet. 2019 Mar 11. pii: jmedgenet-2018-105824. doi: 10.1136/jmedgenet-2018-105824. [Epub ahead of print]
    • Case report
    • 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.
    • Rare, Pathogenic Germline Variants in Fanconi Anemia Genes Increase Risk for Squamous Lung Cancer.
    • Esai Selvan M, Klein RJ, Gümüş ZH.
    • Clin Cancer Res. 2019 Mar 1;25(5):1517-1525. doi: 10.1158/1078-0432.CCR-18-2660. Epub 2018 Nov 13.
    • Mainstreamed genetic testing for women with ovarian cancer: first-year experience.
    • Rahman B, Lanceley A, Kristeleit RS, Ledermann JA, Lockley M, McCormack M, Mould T, Side L.
    • J Med Genet. 2019 Mar;56(3):195-198. doi: 10.1136/jmedgenet-2017-105140. Epub 2018 Mar 13.
    • Novel loss-of-function mutation in BRCA2 gene identified in a Chinese female with a family history of ovarian cancer: A case report.
    • Cui Y, Wang Y, Zhang N, He J, Huang H, Liu F, Wei S, Dong Q, Wu J, Lin K, Chen W, Xiang J, Jin H, Peng Z, Zhao Q, Li W, Jiang D, Banerjee S.
    • Oncol Lett. 2019 Mar;17(3):3350-3354. doi: 10.3892/ol.2019.9950. Epub 2019 Jan 21.
    • Impact of Patient Age on Molecular Alterations of Left-Sided Colorectal Tumors.
    • Puccini A, Lenz HJ, Marshall JL, Arguello D, Raghavan D, Korn WM, Weinberg BA, Poorman K, Heeke AL, Philip PA, Shields AF, Goldberg RM, Salem ME.
    • Oncologist. 2019 Mar;24(3):319-326. doi: 10.1634/theoncologist.2018-0117. Epub 2018 Jul 17.
    • Prevalence of DNA repair gene mutations in localized prostate cancer according to clinical and pathologic features: association of Gleason score and tumor stage.
    • Marshall CH, Fu W, Wang H, Baras AS, Lotan TL, Antonarakis ES.
    • Prostate Cancer Prostatic Dis. 2019 Mar;22(1):59-65. doi: 10.1038/s41391-018-0086-1. Epub 2018 Aug 31.
    • 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.
    • Structural debilitation of mutation G322D associated with MSH2 and their role in triple negative breast cancer.
    • Ramireddy S, Raghuraman P, Sudandiradoss C.
    • J Biomol Struct Dyn. 2019 Feb 26:1-16. doi: 10.1080/07391102.2019.1587512. [Epub ahead of print]
    • High-Grade Serous Ovarian Cancer: Basic Sciences, Clinical and Therapeutic Standpoints.
    • Lisio MA, Fu L, Goyeneche A, Gao ZH, Telleria C.
    • Int J Mol Sci. 2019 Feb 22;20(4). pii: E952. doi: 10.3390/ijms20040952.
    • 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)

    • Identification of patients with pancreatic adenocarcinoma due to inheritable mutation: Challenges of daily clinical practice.
    • Fulton AJ, Lamarca A, Nuttall C, McCallum L, Pihlak R, O'Reilly D, Lalloo F, McNamara MG, Hubner RA, Clancy T, Valle JW.
    • World J Gastrointest Oncol. 2019 Feb 15;11(2):102-116. doi: 10.4251/wjgo.v11.i2.102.
    • Distinct Histologic, Immunohistochemical and Clinical Features Associated With Serous Endometrial Intraepithelial Carcinoma Involving Polyps.
    • Trinh VQ, Pelletier MP, Echelard P, Warkus T, Sauthier P, Gougeon F, Mès-Masson AM, Provencher DM, Rahimi K.
    • Int J Gynecol Pathol. 2019 Feb 14. doi: 10.1097/PGP.0000000000000591. [Epub ahead of print]
    • Hereditary Pancreatic Cancer: A Retrospective Single-Center Study of 5143 Italian Families with History of BRCA-Related Malignancies.
    • Toss A, Venturelli M, Molinaro E, Pipitone S, Barbieri E, Marchi I, Tenedini E, Artuso L, Castellano S, Marino M, Tagliafico E, Razzaboni E, De Matteis E, Cascinu S, Cortesi L.
    • Cancers (Basel). 2019 Feb 7;11(2). pii: E193. doi: 10.3390/cancers11020193.
    • Genetic epidemiology of ovarian cancer in the 22 Arab countries: A systematic review.
    • Younes N, Zayed H.
    • Gene. 2019 Feb 5;684:154-164. doi: 10.1016/j.gene.2018.10.044. Epub 2018 Oct 22.
    • Review
    • Alterations in ERBB2 and BRCA and microsatellite instability as new personalized treatment options in small bowel carcinoma.
    • Quaas A, Heydt C, Waldschmidt D, Alakus H, Zander T, Goeser T, Kasper P, Bruns C, Brunn A, Roth W, Hartmann N, Bunck A, Schmidt M, Buettner R, Merkelbach-Bruse S.
    • BMC Gastroenterol. 2019 Feb 4;19(1):21. doi: 10.1186/s12876-019-0942-z.
    • RE: BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis.
    • Katona BW, Stadler ZK, Robson ME, Domchek SM.
    • J Natl Cancer Inst. 2019 Feb 4. doi: 10.1093/jnci/djz012. [Epub ahead of print]

    Original research:

    BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis.

    • Evaluation of the BRCAness phenotype and its correlations with clinicopathological features in triple-negative breast cancers.
    • Tian T, Shan L, Yang W, Zhou X, Shui R.
    • Hum Pathol. 2019 Feb;84:231-238. doi: 10.1016/j.humpath.2018.10.004. Epub 2018 Oct 16.
    • Synchronous endometrioid endometrial and ovarian carcinomas are biologically related: A clinico-pathological and molecular (next generation sequencing) study of 22 cases.
    • Hájková N, Tichá I, Hojný J, Němejcová K, Bártů M, Michálková R, Zikán M, Cibula D, Laco J, Geryk T, Méhes G, Dundr P.
    • Oncol Lett. 2019 Feb;17(2):2207-2214. doi: 10.3892/ol.2018.9855. Epub 2018 Dec 20.
    • Genomic Features and Clinical Management of Patients with Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer.
    • Ohmoto A, Yachida S, Morizane C.
    • Int J Mol Sci. 2019 Jan 29;20(3). pii: E561. doi: 10.3390/ijms20030561.
    • Germline BRCA2 K3326X and CHEK2 I157T Mutations Increase Risk for Sporadic Pancreatic Ductal Adenocarcinoma.
    • Obazee O, Archibugi L, Andriulli A, Soucek P, Małecka-Panas E, Ivanauskas A, Johnson T, Gazouli M, Pausch T, Lawlor RT, Cavestro GM, Milanetto AC, Di Leo M, Pasquali C, Hegyi P, Szentesi A, Radu CE, Gheorghe C, Theodoropoulos GE, Bergmann F, Brenner H, Vodickova L, Katzke V, Campa D, Strobel O, Kaiser J, Pezzilli R, Federici F, Mohelnikova-Duchonova B, Boggi U, Lemstrova R, Johansen JS, Bojesen SE, Chen I, Jensen BV, Capurso G, Pazienza V, Dervenis C, Sperti C, Mambrini A, Hackert T, Kaaks R, Basso D, Talar-Wojnarowska R, Maiello E, Izbicki JR, Cuk K, Saum KU, Cantore M, Kupcinskas J, Palmieri O, Fave GD, Landi S, Salvia R, Fogar P, Vashist YK, Scarpa A, Vodicka P, Tjaden C, Iskierka-Jazdzewska E, Canzian F.
    • Int J Cancer. 2019 Jan 23. doi: 10.1002/ijc.32127. [Epub ahead of print]
    • Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma.
    • Wong K, van der Weyden L, Schott CR, Foote A, Constantino-Casas F, Smith S, Dobson JM, Murchison EP, Wu H, Yeh I, Fullen DR, Joseph N, Bastian BC, Patel RM, Martincorena I, Robles-Espinoza CD, Iyer V, Kuijjer ML, Arends MJ, Brenn T, Harms PW, Wood GA, Adams DJ.
    • Nat Commun. 2019 Jan 21;10(1):353. doi: 10.1038/s41467-018-08081-1.
    • The association between non-breast and ovary cancers and BRCA mutation in first- and second-degree relatives of high-risk breast cancer patients: a large-scale study of Koreans.
    • Kim H, Choi DH, Park W, Im YH, Ahn JS, Park YH, Nam SJ, Kim SW, Lee JE, Yu JH, Lee SK, Jung BY.
    • Hered Cancer Clin Pract. 2019 Jan 3;17:1. doi: 10.1186/s13053-018-0103-3. eCollection 2019.
    • Radiation-Induced Colitis in a Pancreatic Cancer Patient With a Germline BRCA2 Mutation: A Case Report.
    • Wolfe AR, Jain R, Pawlik TM, Walker J, Williams TM.
    • Adv Radiat Oncol. 2018 Sep 7;4(1):10-14. doi: 10.1016/j.adro.2018.08.025. eCollection 2019 Jan-Mar.
    • Current Approaches to Pancreatic Cancer Screening.
    • Chhoda A, Lu L, Clerkin BM, Risch H, Farrell JJ.
    • Am J Pathol. 2019 Jan;189(1):22-35. doi: 10.1016/j.ajpath.2018.09.013.
    • The Role of BRCA Testing in Hereditary Pancreatic and Prostate Cancer Families.
    • Pilarski R.
    • Am Soc Clin Oncol Educ Book. 2019 Jan;(39):79-86. doi: 10.1200/EDBK_238977.
    • A synonymous germline variant PALB2 c.18G>T (p.Gly6=) disrupts normal splicing in a family with pancreatic and breast cancers.
    • Yang C, Ceyhan-Birsoy O, Mandelker D, Jairam S, Catchings A, O'Reilly EM, Walsh MF, Zhang L.
    • Breast Cancer Res Treat. 2019 Jan;173(1):79-86. doi: 10.1007/s10549-018-4980-y. Epub 2018 Sep 25.
    • Case report
    • Low risk of invasive lobular carcinoma of the breast in carriers of BRCA1 (hereditary breast and ovarian cancer) and TP53 (Li-Fraumeni syndrome) germline mutations.
    • Ditchi Y, Broudin C, El Dakdouki Y, Muller M, Lavaud P, Caron O, Lejri D, Baynes C, Mathieu MC, Salleron J, Benusiglio PR.
    • Breast J. 2019 Jan;25(1):16-19. doi: 10.1111/tbj.13154. Epub 2018 Nov 9.
    • The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden.
    • Edwinsdotter Ardnor C, Rosén A, Ljuslinder I, Melin B.
    • Fam Cancer. 2019 Jan;18(1):37-42. doi: 10.1007/s10689-018-0098-y.
    • Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer.
    • Yurgelun MB, Chittenden AB, Morales-Oyarvide V, Rubinson DA, Dunne RF, Kozak MM, Qian ZR, Welch MW, Brais LK, Da Silva A, Bui JL, Yuan C, Li T, Li W, Masuda A, Gu M, Bullock AJ, Chang DT, Clancy TE, Linehan DC, Findeis-Hosey JJ, Doyle LA, Thorner AR, Ducar MD, Wollison BM, Khalaf N, Perez K, Syngal S, Aguirre AJ, Hahn WC, Meyerson ML, Fuchs CS, Ogino S, Hornick JL, Hezel AF, Koong AC, Nowak JA, Wolpin BM.
    • Genet Med. 2019 Jan;21(1):213-223. doi: 10.1038/s41436-018-0009-5. Epub 2018 Jul 2.
    • Cancer susceptibility gene mutations in type I and II endometrial cancer.
    • Long B, Lilyquist J, Weaver A, Hu C, Gnanaolivu R, Lee KY, Hart SN, Polley EC, Bakkum-Gamez JN, Couch FJ, Dowdy SC.
    • Gynecol Oncol. 2019 Jan;152(1):20-25. doi: 10.1016/j.ygyno.2018.10.019. Epub 2018 Oct 26.
    • Ovarian Clear Cell Carcinoma in Cowden Syndrome.
    • Yauy K, Imbert-Bouteille M, Bubien V, Lindet-Bourgeois C, Rathat G, Perrochia H, MacGrogan G, Longy M, Bessis D, Tinat J, Baert-Desurmont S, Blanluet M, Perre PV, Baudry K, Pujol P, Corsini C.
    • J Natl Compr Canc Netw. 2019 Jan;17(1):7-11. doi: 10.6004/jnccn.2018.7065.
    • Case report
    • Squamous cell carcinoma-A rare pancreatic exocrine malignancy.
    • Wahab A, Gonzalez JJ, Devarkonda V, Saint-Phard T, Singh T, Adekolujo OS.
    • Cancer Biol Ther. 2019;20(5):593-596. doi: 10.1080/15384047.2018.1539291. Epub 2018 Nov 2.
    • Case report

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