“Other” HBOC Cancers ~ Mutation Spectrum
~ Genetics of Breast & Ovarian Cancer

For HBOC-related or -suspected cancers other than "breast cancer". Includes studies concerning: isolated subtypes of breast cancer (e.g. lobular breast cancer, triple-negative breast cancer, etc.), and ovarian cancer alone or isolated subtypes of ovarian cancer, and "other" cancers that may appear to be associated with HBOC (or have simply been reported in individuals or families with HBOC mutations or a breast or ovarian cancer family history). For mutation spectrum associated with prostate cancer, see the dedicated section, HBOC-Related Prostate Cancer Mutation Spectrum.

List was last updated on Dec 5, 2019 @ 4:05 am.


    • 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]
    • 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.
    • 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
    • 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
    • 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.
    • 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. eCollection 2019.
    • 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
    • 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 Oct 8. pii: S0090-8258(19)31528-8. doi: 10.1016/j.ygyno.2019.09.008. [Epub ahead of print]
    • 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]
    • 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]
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    • BRCA Mutation and Its Association With Colorectal Cancer.
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    • Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial.
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    Full text: BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis (Medscape Oncology)

    Letter, Comment:

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

    • High Prevalence of Hereditary Cancer Syndromes and Outcomes in Adults with Early-Onset Pancreatic Cancer.
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    • Hum Mutat. 2018 Nov;39(11):1553-1568. doi: 10.1002/humu.23650.
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    Original research:

    Characteristics of Lynch syndrome associated ovarian cancer.

    • Ovarian small cell carcinoma in one of a pair of monozygous twins.
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    • BRCA2 Loss-of-Function and High Sensitivity to Cisplatin-Based Chemotherapy in a Patient With a Pleomorphic Soft Tissue Sarcoma: Effect of Genomic Medicine.
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    • Case report, Review
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    • BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls.
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    • Rare loss of function variants in candidate genes and risk of colorectal cancer.
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    • Rare Variants in Known Susceptibility Loci and Their Contribution to Risk of Lung Cancer.
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    • Whole exome sequencing of breast cancer (TNBC) cases from India: association of MSH6 and BRIP1 variants with TNBC risk and oxidative DNA damage.
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    • Prospective study of germline genetic testing in incident cases of pancreatic adenocarcinoma.
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    • Cancer. 2018 Sep 1;124(17):3520-3527. doi: 10.1002/cncr.31628. Epub 2018 Aug 1.
    • Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin.
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    Research News:

    Mixing Mutation Location With Carcinogen Exposure: A Recipe for Tissue Specificity in BRCA2-Associated Cancers?

    • Clinicopathologic features and BRCA mutations in primary fallopian tube cancer in Japanese women.
    • Sakurada S, Watanabe Y, Tokunaga H, Takahashi F, Yamada H, Takehara K, Yaegashi N.
    • Jpn J Clin Oncol. 2018 Sep 1;48(9):794-798. doi: 10.1093/jjco/hyy095.
    • Genetic Alterations of Periampullary and Pancreatic Ductal Adenocarcinoma: An Overview.
    • Sikdar N, Saha G, Dutta A, Ghosh S, Shrikhande SV, Banerjee S.
    • Curr Genomics. 2018 Sep;19(6):444-463. doi: 10.2174/1389202919666180221160753.
    • Hybrid Capture-Based Tumor Sequencing and Copy Number Analysis to Confirm Origin of Metachronous Metastases in BRCA1-Mutant Cholangiocarcinoma Harboring a Novel YWHAZ-BRAF Fusion.
    • Lim HC, Montesion M, Botton T, Collisson EA, Umetsu SE, Behr SC, Gordan JD, Stephens PJ, Kelley RK.
    • Oncologist. 2018 Sep;23(9):998-1003. doi: 10.1634/theoncologist.2017-0645. Epub 2018 Apr 5.
    • Case report
    • Germline Variants and Risk for Pancreatic Cancer: A Systematic Review and Emerging Concepts.
    • Zhan W, Shelton CA, Greer PJ, Brand RE, Whitcomb DC.
    • Pancreas. 2018 Sep;47(8):924-936. doi: 10.1097/MPA.0000000000001136.
    • Renal cell carcinoma morphologically similar to fumarate hydratase-deficient RCC in a patient with BRCA2 germline mutation.
    • Souza VC, de Freitas Vinhas C, Miguel D, Athanazio DA, Trpkov K.
    • Pathol Int. 2018 Sep;68(9):541-542. doi: 10.1111/pin.12688. Epub 2018 Jun 22.
    • Letter, Case report
    • Lymphangioleiomyomatosis: a case report and review of diagnosis and treatment.
    • Liu Y, Guo Z, Zhao C, Li X, Liu H, Chen J.
    • Onco Targets Ther. 2018 Aug 31;11:5339-5347. doi: 10.2147/OTT.S161360. eCollection 2018.
    • Incidence of Pathogenic Variants in Those With a Family History of Pancreatic Cancer.
    • Macklin SK, Kasi PM, Jackson JL, Hines SL.
    • Front Oncol. 2018 Aug 21;8:330. doi: 10.3389/fonc.2018.00330. eCollection 2018.
    • BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population.
    • Cardoso FC, Goncalves S, Mele PG, Liria NC, Sganga L, Diaz Perez I, Podesta EJ, Solano AR.
    • Hum Genomics. 2018 Aug 13;12(1):39. doi: 10.1186/s40246-018-0171-5.
    • Frequent basal cell cancer development is a clinical marker for inherited cancer susceptibility.
    • Cho HG, Kuo KY, Li S, Bailey I, Aasi S, Chang ALS, Oro AE, Tang JY, Sarin KY.
    • JCI Insight. 2018 Aug 9;3(15). pii: 122744. doi: 10.1172/jci.insight.122744. eCollection 2018 Aug 9.
    • Recent advances in prostate cancer research: large-scale genomic analyses reveal novel driver mutations and DNA repair defects.
    • Frank S, Nelson P, Vasioukhin V.
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    • A novel de novo CDH1 germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decay.
    • Krempely K, Karam R.
    • Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4). pii: a003012. doi: 10.1101/mcs.a003012. Print 2018 Aug.
    • Activity of HSP90 Inhibiton in a Metastatic Lung Cancer Patient With a Germline BRCA1 Mutation.
    • Cedrés S, Felip E, Cruz C, Martinez de Castro A, Pardo N, Navarro A, Martinez-Marti A, Remon J, Zeron-Medina J, Balmaña J, Llop-Guevara A, Miquel JM, Sansano I, Nuciforo P, Mancuso F, Serra V4, Vivancos A.
    • J Natl Cancer Inst. 2018 Aug 1;110(8):914-917. doi: 10.1093/jnci/djy012.
    • Durable response in a woman with recurrent low-grade endometrioid endometrial cancer and a germline BRCA2 mutation treated with a PARP inhibitor.
    • Gockley AA, Kolin DL, Awtrey CS, Lindeman NI, Matulonis UA, Konstantinopoulos PA.
    • Gynecol Oncol. 2018 Aug;150(2):219-226. doi: 10.1016/j.ygyno.2018.05.028. Epub 2018 Jun 22.
    • Case report
    • Characteristics of Lynch syndrome associated ovarian cancer.
    • Woolderink JM, De Bock GH, de Hullu JA, Hollema H, Zweemer RP, Slangen BFM, Gaarenstroom KN, van Beurden M, van Doorn HC, Sijmons RH, Vasen HFA, Mourits MJE.
    • Gynecol Oncol. 2018 Aug;150(2):324-330. doi: 10.1016/j.ygyno.2018.03.060. Epub 2018 Jun 5.

    Letter, Commentary:

    Serous ovarian carcinoma in patients with Lynch syndrome: Caution is warranted.

    • Germline mutations in young non-smoking women with lung adenocarcinoma.
    • Donner I, Katainen R, Sipilä LJ, Aavikko M, Pukkala E, Aaltonen LA.
    • Lung Cancer. 2018 Aug;122:76-82. doi: 10.1016/j.lungcan.2018.05.027. Epub 2018 May 31.
    • Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes.
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    • Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.
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    • Oncotarget. 2018 Jul 17;9(55):30649-30660. doi: 10.18632/oncotarget.25769. eCollection 2018 Jul 17.
    • Description of Genetic Variants in BRCA Genes in Mexican Patients with Ovarian Cancer: A First Step towards Implementing Personalized Medicine.
    • Delgado-Balderas JR, Garza-Rodriguez ML, Gomez-Macias GS, Barboza-Quintana A, Barboza-Quintana O, Cerda-Flores RM, Miranda-Maldonado I, Vazquez-Garcia HM, Valdez-Chapa LD, Antonio-Macedo M, Dean M, Barrera-Saldaña HA.
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    • Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
    • Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer C, Casey RT, Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium, Tischkowitz MD, Maher ER.
    • Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14.
    • Pathogenic germline BRCA1/2 mutations and familial predisposition to gastric cancer.
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    • Risk of Different Cancers Among First-degree Relatives of Pancreatic Cancer Patients: Influence of Probands’ Susceptibility Gene Mutation Status.
    • Antwi SO, Fagan SE, Chaffee KG, Bamlet WR, Hu C, Polley EC, Hart SN, Shimelis H, Lilyquist J, Gnanaolivu RD, McWilliams RR, Oberg AL, Couch FJ, Petersen GM.
    • J Natl Cancer Inst. 2018 Jul 2. doi: 10.1093/jnci/djx272. [Epub ahead of print]
    • Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic disease.
    • Mijuskovic M, Saunders EJ, Leongamornlert DA, Wakerell S, Whitmore I, Dadaev T, Cieza-Borrella C, Govindasami K, Brook MN, Haiman CA, Conti DV, Eeles RA, Kote-Jarai Z.
    • Br J Cancer. 2018 Jul;119(1):96-104. doi: 10.1038/s41416-018-0141-7. Epub 2018 Jun 19.
    • Impact of BRCA mutations on outcomes among patients with serous endometrial cancer.
    • Kadan Y, Raviv O, Segev Y, Lavie O, Bruchim I, Fishman A, Michaelson R, Beller U, Helpman L.
    • Int J Gynaecol Obstet. 2018 Jul;142(1):91-96. doi: 10.1002/ijgo.12486. Epub 2018 Apr 2.
    • Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube.
    • Choi MC, Bae JS, Jung SG, Park H, Joo WD, Song SH, Lee C, Kim JH, Lee KC, Lee S, Lee JH.
    • J Gynecol Oncol. 2018 Jul;29(4):e43. doi: 10.3802/jgo.2018.29.e43. Epub 2018 Mar 26.
    • Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect.
    • Corso G, Figueiredo J, La Vecchia C, Veronesi P, Pravettoni G, Macis D, Karam R, Lo Gullo R, Provenzano E, Toesca A, Mazzocco K, Carneiro F, Seruca R, Melo S, Schmitt F, Roviello F, De Scalzi AM, Intra M, Feroce I, De Camilli E, Villardita MG, Trentin C, De Lorenzi F, Bonanni B, Galimberti V.
    • J Med Genet. 2018 Jul;55(7):431-441. doi: 10.1136/jmedgenet-2018-105337. Epub 2018 Jun 21.
    • Review
    • Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study.
    • Fewings E, Larionov A, Redman J, Goldgraben MA, Scarth J, Richardson S, Brewer C, Davidson R, Ellis I, Evans DG, Halliday D, Izatt L, Marks P, McConnell V, Verbist L, Mayes R, Clark GR, Hadfield J, Chin SF, Teixeira MR, Giger OT, Hardwick R, di Pietro M, O'Donovan M, Pharoah P, Caldas C, Fitzgerald RC, Tischkowitz M.
    • Lancet Gastroenterol Hepatol. 2018 Jul;3(7):489-498. doi: 10.1016/S2468-1253(18)30079-7. Epub 2018 Apr 27.

    Commentary:

    PALB2 as a familial gastric cancer gene: is the wait over?

    • Pancreatic cancer as a sentinel for hereditary cancer predisposition.
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    • JAMA. 2018 Jun 19;319(23):2401-2409. doi: 10.1001/jama.2018.6228.

    Editorial:

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

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

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

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    Editorial:

    Should We Lower Our Threshold for Germline Genetic Assessment in Pancreatic Adenocarcinoma?

    • Reflex Testing for Germline BRCA1, BRCA2, PALB2, and ATM Mutations in Pancreatic Cancer: Mutation Prevalence and Clinical Outcomes From Two Canadian Research Registries.
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    • JCO Precis Oncol. doi: 10.1200/PO.17.00098. Epub 2017 Jan 19.

    Editorial:

    Should We Lower Our Threshold for Germline Genetic Assessment in Pancreatic Adenocarcinoma?

    • Retrospective Survival Analysis of Patients With Advanced Pancreatic Ductal Adenocarcinoma and Germline BRCA or PALB2 Mutations.
    • Reiss KA, Yu S, Judy R, Symecko H, Nathanson KL, Domchek SM.
    • JCO Precis Oncol. doi: 10.1200/PO.17.00152. Epub 2018 Jan 19.

    Free full text: Retrospective Survival Analysis of Patients With Advanced Pancreatic Ductal Adenocarcinoma and Germline BRCA or PALB2 Mutations. (Medscape Oncology)

    Editorial:

    Should We Lower Our Threshold for Germline Genetic Assessment in Pancreatic Adenocarcinoma?

    • Double Heterozygosity for BRCA1 Pathogenic Variant and BRCA2 Polymorphic Stop Codon K3326X: A Case Report in a Southern Italian Family.
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    Development of a high risk pancreatic screening clinic using 3.0 T MRI.

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    Commentary:

    Germline Testing for Individuals With Pancreatic Cancer: The Benefits and Challenges to Casting a Wider Net.

    Commentary:

    Your Genes: Getting the Best Fit.

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    • Lancet Oncol. 2016 Sep;17(9):1261-71. doi: 10.1016/S1470-2045(16)30147-4. Epub 2016 Aug 4.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Concerned family of deceased patient

    Subject: leiomyosarcoma

    • First case report of an adrenocortical carcinoma caused by a BRCA2 mutation.
    • El Ghorayeb N, Grunenwald S, Nolet S, Primeau V, Côté S, Maugard CM, Lacroix A, Gaboury L, Bourdeau I.
    • Medicine (Baltimore). 2016 Sep;95(36):e4756. doi: 10.1097/MD.0000000000004756.
    • Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas.
    • Pinto P, Peixoto A, Santos C, Rocha P, Pinto C, Pinheiro M, Leça L, Martins AT, Ferreira V, Bartosch C, Teixeira MR.
    • PLoS One. 2016 Aug 17;11(8):e0161438. doi: 10.1371/journal.pone.0161438.
    • Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
    • Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, Garofalo A, Gulati R, Carreira S, Eeles R, Elemento O, Rubin MA, Robinson D, Lonigro R, Hussain M, Chinnaiyan A, Vinson J, Filipenko J, Garraway L, Taplin ME, AlDubayan S, Han GC, Beightol M, Morrissey C, Nghiem B, Cheng HH, Montgomery B, Walsh T, Casadei S, Berger M, Zhang L, Zehir A, Vijai J, Scher HI, Sawyers C, Schultz N, Kantoff PW, Solit D, Robson M, Van Allen EM, Offit K, de Bono J, Nelson PS.
    • N Engl J Med. 2016 Aug 4;375(5):443-53. doi: 10.1056/NEJMoa1603144. Epub 2016 Jul 6.

    See PubMed abstract for multiple related items.

    News:

    High frequency of gene mutations in metastatic prostate cancer.

    Comment:

    Commentary on: "Inherited DNA-repair gene mutations in men with metastatic prostate cancer." Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, Garofalo A, Gulati R, Carreira S, Eeles R, Elemento O, Rubin MA, Robinson D, Lonigro R, Hussain M, Chinnaiyan A, Vinson J, Filipenko J, Garraway L, Taplin ME, AlDubayan S, Han GC, Beightol M, Morrissey C, Nghiem B, Cheng HH, Montgomery B, Walsh T, Casadei S, Berger M, Zhang L, Zehir A, Vijai J, Scher HI, Sawyers C, Schultz N, Kantoff PW, Solit D, Robson M, Van Allen EM, Offit K, de Bono J, Nelson PS. N Engl J Med. 2016 Aug 4;375(5):443-53.

    Comment:

    Re: Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

    Letter, Commentary:

    Should we Perform Genetic Testing on Men with Metastatic Prostate Cancer?

    Commentary:

    Commentary on "Inherited DNA-repair gene mutations in men with metastatic prostate cancer". Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, Garofalo A, Gulati R, Carreira S, Eeles R, Elemento O, Rubin MA, Robinson D, Lonigro R, Hussain M, Chinnaiyan A, Vinson J, Filipenko J, Garraway L, Taplin ME, AlDubayan S, Han GC, Beightol M, Morrissey C, Nghiem B, Cheng HH, Montgomery B, Walsh T, Casadei S, Berger M, Zhang L, Zehir A, Vijai J, Scher HI, Sawyers C, Schultz N, Kantoff PW, Solit D, Robson M, Van Allen EM, Offit K, de Bono J, Nelson PS. N Engl J Med. 2016;375(5):443-53.

    News Release: Testing for inherited mutations could benefit men with advanced prostate cancer. (Fred Hutch)

    Press: Genetic testing can help deliver precision medicine to men with advanced prostate cancer. (Science Daily)

    Press: Metastatic Prostate Cancer Needs Genetic Testing; Here's Why. (Medscape Oncology)

    Blog post: All Men with Metastatic Prostate Cancer Should Have Genetic Testing. (Michigan Health. Lab Report.)

    • Do founder mutations characteristic of some cancer sites also predispose to pancreatic cancer?
    • Lener MR, Scott RJ, Kluźniak W, Baszuk P, Cybulski C, Wiechowska-Kozłowska A, Huzarski T, Byrski T, Kładny J, Pietrzak S, Soluch A, Jakubowska A, Lubiński J.
    • Int J Cancer. 2016 Aug 1;139(3):601-6. doi: 10.1002/ijc.30116. Epub 2016 Apr 18.
    • Recurrent HOXB13 mutations in the Dutch population do not associate with increased breast cancer risk.
    • Liu J, Prager-van der Smissen WJ, Schmidt MK, Collée JM, Cornelissen S, Lamping R, Nieuwlaat A, Foekens JA, Hooning MJ, Verhoef S, van den Ouweland AM, Hogervorst FB, Martens JW, Hollestelle A.
    • Sci Rep. 2016 Jul 18;6:30026. doi: 10.1038/srep30026.
    • Detection of somatic BRCA1/2 mutations in ovarian cancer - next-generation sequencing analysis of 100 cases.
    • Magdalena K, Monika Z, Adam G, Magdalena R, Marzena L, Wojciech B, Janusz L, Bartosz W.
    • Cancer Med. 2016 Jul;5(7):1640-6. doi: 10.1002/cam4.748. Epub 2016 May 11.
    • The role of germline alterations in the DNA damage response genes BRIP1 and BRCA2 in melanoma susceptibility.
    • Tuominen R, Engström PG, Helgadottir H, Eriksson H, Unneberg P, Kjellqvist S, Yang M, Lindén D, Edsgärd D, Hansson J, Höiom V.
    • Genes Chromosomes Cancer. 2016 Jul;55(7):601-11. doi: 10.1002/gcc.22363. Epub 2016 May 2.
    • Rare non-epithelial ovarian neoplasms: Pathology, genetics and treatment.
    • Foulkes WD, Gore M, McCluggage WG.
    • Gynecol Oncol. 2016 Jul;142(1):190-8. doi: 10.1016/j.ygyno.2016.04.005. Epub 2016 Apr 19.
    • Review
    • Commentary regarding Schayek et al., entitled "The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil".
    • Sales Luiz Vianna F, Alemar B, Achatz MI, Camey SA, Ashton-Prolla P.
    • Cancer Genet. 2016 Jun;209(6):282-3. doi: 10.1016/j.cancergen.2016.04.002. Epub 2016 Apr 27.
    • Letter

    The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.

    Letter

    The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.

    • The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.
    • Schayek H, De Marco L, Starinsky-Elbaz S, Rossette M, Laitman Y, Bastos-Rodrigues L, Lopes da Silva Filho A, Friedman E.
    • Cancer Genet. 2016 Jun;209(6):283-4. doi: 10.1016/j.cancergen.2016.04.057. Epub 2016 Apr 22.
    • Letter

    The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.

    Letter

    Commentary regarding Schayek et al., entitled "The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil".

    • Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.
    • Parsons DW, Roy A, Yang Y, Wang T, Scollon S, Bergstrom K, Kerstein RA, Gutierrez S, Petersen AK, Bavle A, Lin FY, López-Terrada DH, Monzon FA, Hicks MJ, Eldin KW, Quintanilla NM, Adesina AM, Mohila CA, Whitehead W, Jea A, Vasudevan SA, Nuchtern JG, Ramamurthy U, McGuire AL, Hilsenbeck SG, Reid JG, Muzny DM, Wheeler DA, Berg SL, Chintagumpala MM, Eng CM, Gibbs RA, Plon SE.
    • JAMA Oncol. 2016 May 1;2(5):616-624. doi: 10.1001/jamaoncol.2015.5699.

    Editorial

    Precision Therapy for Pediatric Cancers.

    Press: Lessons From Genetic Testing in Pediatric Cancers. (Medscape Oncology)

    • Evaluation of germline BRCA1 and BRCA2 mutations in a multi-ethnic Asian cohort of ovarian cancer patients.
    • Hasmad HN, Lai KN, Wen WX, Park DJ, Nguyen-Dumont T, Kang PC, Thirthagiri E, Ma'som M, Lim BK, Southey M, Woo YL, Teo SH.
    • Gynecol Oncol. 2016 May;141(2):318-22. doi: 10.1016/j.ygyno.2015.11.001. Epub 2015 Nov 3.
    • Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer.
    • Hart SN, Ellingson MS, Schahl K, Vedell PT, Carlson RE, Sinnwell JP, Barman P, Sicotte H, Eckel-Passow JE, Wang L, Kalari KR, Qin R, Kruisselbrink TM, Jimenez RE, Bryce AH, Tan W, Weinshilboum R, Wang L, Kohli M.
    • BMJ Open. 2016 Apr 15;6(4):e010332. doi: 10.1136/bmjopen-2015-010332.
    • Inherited Mutations in Women With Ovarian Carcinoma.
    • Norquist BM, Harrell MI, Brady MF, Walsh T, Lee MK, Gulsuner S, Bernards SS, Casadei S, Yi Q, Burger RA, Chan JK, Davidson SA, Mannel RS, DiSilvestro PA, Lankes HA, Ramirez NC, King MC, Swisher EM, Birrer MJ.
    • JAMA Oncol. 2016 Apr 1;2(4):482-490. doi: 10.1001/jamaoncol.2015.5495.

    Commentary

    Germline Sequence Variants and Ovarian Cancer: Known-Knowns and Known-Unknowns.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: article request

    • CDH1 germline mutations and hereditary lobular breast cancer.
    • Corso G, Intra M, Trentin C, Veronesi P, Galimberti V.
    • Fam Cancer. 2016 Apr;15(2):215-9. doi: 10.1007/s10689-016-9869-5.
    • Review
    • A Comparison between CHEK2*1100delC/I157T Mutation Carrier and Noncarrier Breast Cancer Patients: A Clinicopathological Analysis.
    • Huszno J, Budryk M, Kołosza Z, Tęcza K, Pamuła Piłat J, Nowara E, Grzybowska E.
    • Oncology. [2016 Apr;]90(4):193-8. doi: 10.1159/000444326. Epub 2016 Mar 19.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Article request

    • Genetic testing in a cohort of young patients with HER2-amplified breast cancer.
    • Eccles DM, Li N, Handwerker R, Maishman T, Copson ER, Durcan LT, Gerty SM, Jones L, Evans DG, Haywood L, Campbell I.
    • Ann Oncol. 2016 Mar;27(3):467-73. doi: 10.1093/annonc/mdv592. Epub 2015 Dec 17.
    • Frequent incidence of BARD1-truncating mutations in germline DNA from triple-negative breast cancer patients.
    • De Brakeleer S, De Grève J, Desmedt C, Joris S, Sotiriou C, Piccart M, Pauwels I, Teugels E.
    • Clin Genet. 2016 Mar;89(3):336-40. doi: 10.1111/cge.12620. Epub 2015 Jun 16.
    • Triple-Negative versus Non-Triple-Negative Breast Cancers in High-Risk Women: Phenotype Features and Survival from the HIBCRIT-1 MRI-Including Screening Study.
    • Podo F, Santoro F, Di Leo G, Manoukian S, de Giacomi C, Corcione S, Cortesi L, Carbonaro LA, Trimboli RM, Cilotti A, Preda L, Bonanni B, Pensabene M, Martincich L, Savarese A, Contegiacomo A, Sardanelli F.
    • Clin Cancer Res. 2016 Feb 15;22(4):895-904. doi: 10.1158/1078-0432.CCR-15-0459. Epub 2015 Oct 26.
    • Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer.
    • Roberts NJ, Norris AL, Petersen GM, Bondy ML, Brand R, Gallinger S, Kurtz RC, Olson SH, Rustgi AK, Schwartz AG, Stoffel E, Syngal S, Zogopoulos G, Ali SZ, Axilbund J, Chaffee KG, Chen YC, Cote ML, Childs EJ, Douville C, Goes FS, Herman JM, Iacobuzio-Donahue C, Kramer M, Makohon-Moore A, McCombie RW, McMahon KW, Niknafs N, Parla J, Pirooznia M, Potash JB, Rhim AD, Smith AL, Wang Y, Wolfgang CL, Wood LD, Zandi PP, Goggins M, Karchin R, Eshleman JR, Papadopoulos N, Kinzler KW, Vogelstein B, Hruban RH, Klein AP.
    • Cancer Discov. 2016 Feb;6(2):166-75. doi: 10.1158/2159-8290.CD-15-0402. Epub 2015 Dec 9.
    • Genetic characterization of early onset ovarian carcinoma.
    • Bernards SS, Norquist BM, Harrell MI, Agnew KJ, Lee MK, Walsh T, Swisher EM.
    • Gynecol Oncol. 2016 Feb;140(2):221-225. doi: 10.1016/j.ygyno.2015.12.017. Epub 2015 Dec 21.
    • Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.
    • Mantere T, Winqvist R, Kauppila S, Grip M, Jukkola-Vuorinen A, Tervasmäki A, Rapakko K, Pylkäs K.
    • PLoS Genet. 2016 Jan 28;12(1):e1005816. doi: 10.1371/journal.pgen.1005816. eCollection 2016.
    • Prognostic factors in Polish patients with BRCA1-dependent ovarian cancer.
    • Szatkowski W, Blecharz P, Mituś JW, Jasiówka M, Łuczyńska E, Jakubowicz J, Byrski T.
    • Hered Cancer Clin Pract. 2016 Jan 23;14:4. doi: 10.1186/s13053-015-0041-2. eCollection 2016.
    • BRCA1 founder mutations do not contribute to increased risk of gastric cancer in the Polish population.
    • Ławniczak M, Jakubowska A, Białek A, Lubiński J, Jaworska-Bieniek K, Kaczmarek K, Starzyńska T.
    • Hered Cancer Clin Pract. 2016 Jan 15;14:3. doi: 10.1186/s13053-015-0043-0. eCollection 2016.
    • Clinical features and outcomes of germline mutation BRCA1-linked versus sporadic ovarian cancer patients.
    • Synowiec A, Wcisło G, Bodnar L, Górski B, Szenajch J, Szarlej-Wcisło K, Szczylik C.
    • Hered Cancer Clin Pract. 2016 Jan 8;14:1. doi: 10.1186/s13053-015-0044-z. eCollection 2016.
    • BRCA1 and BRCA2 mutations in Japanese patients with ovarian, fallopian tube, and primary peritoneal cancer.
    • Sakamoto I, Hirotsu Y, Nakagomi H, Ouchi H, Ikegami A, Teramoto K, Amemiya K, Mochizuki H, Omata M.
    • Cancer. 2016 Jan 1;122(1):84-90. doi: 10.1002/cncr.29707. Epub 2015 Oct 6.

    Editorial

    The more you look, the more you will find.

    Press: Study Shows BRCA Mutation Screening Needed Despite Family History. (Cancer Network)

    • The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.
    • Schayek H, De Marco L, Starinsky-Elbaz S, Rossette M, Laitman Y, Bastos-Rodrigues L, da Silva Filho AL, Friedman E.
    • Cancer Genet. 2016 Jan-Feb;209(1-2):50-2. doi: 10.1016/j.cancergen.2015.11.003. Epub 2015 Dec 1.
    • Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.
    • Hu C, Hart SN, Bamlet WR, Moore RM, Nandakumar K, Eckloff BW, Lee YK, Petersen GM, McWilliams RR, Couch FJ.
    • Cancer Epidemiol Biomarkers Prev. 2016 Jan;25(1):207-11. doi: 10.1158/1055-9965.EPI-15-0455. Epub 2015 Oct 19.
    • Ovarian tumors related to intronic mutations in DICER1: a report from the international ovarian and testicular stromal tumor registry.
    • Schultz KA, Harris A, Messinger Y, Sencer S, Baldinger S, Dehner LP, Hill DA.
    • Fam Cancer. 2016 Jan;15(1):105-10. doi: 10.1007/s10689-015-9831-y.
    • Case report
    • The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer.
    • Maia S, Cardoso M, Paulo P, Pinheiro M, Pinto P, Santos C, Pinto C, Peixoto A, Henrique R, Teixeira MR.
    • Fam Cancer. 2016 Jan;15(1):111-21. doi: 10.1007/s10689-015-9832-x.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Article request

    • Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report.
    • Loizidou MA, Hadjisavvas A, Tanteles GA, Spanou-Aristidou E, Kyriacou K, Christophidou-Anastasiadou V.
    • Oncol Lett. 2016 Jan;11(1):471-473. Epub 2015 Nov 2.
    • Patterns and functional implications of rare germline variants across 12 cancer types.
    • Lu C, Xie M, Wendl MC, Wang J, McLellan MD, Leiserson MD, Huang KL, Wyczalkowski MA, Jayasinghe R, Banerjee T, Ning J, Tripathi P, Zhang Q, Niu B, Ye K, Schmidt HK, Fulton RS, McMichael JF, Batra P, Kandoth C, Bharadwaj M, Koboldt DC, Miller CA, Kanchi KL, Eldred JM, Larson DE, Welch JS, You M, Ozenberger BA, Govindan R, Walter MJ, Ellis MJ, Mardis ER, Graubert TA, Dipersio JF, Ley TJ, Wilson RK, Goodfellow PJ, Raphael BJ, Chen F, Johnson KJ, Parvin JD, Ding L.
    • Nat Commun. 2015 Dec 22;6:10086. doi: 10.1038/ncomms10086.

    Press: Study Uncovers Inherited Genetic Susceptibility Across 12 Cancer Types? (DoveMed)

    • Identification of germline genetic mutations in patients with pancreatic cancer.
    • Salo-Mullen EE, O'Reilly EM, Kelsen DP, Ashraf AM, Lowery MA, Yu KH, Reidy DL, Epstein AS, Lincoln A, Saldia A, Jacobs LM, Rau-Murthy R, Zhang L, Kurtz RC, Saltz L, Offit K, Robson ME, Stadler ZK.
    • Cancer. 2015 Dec 15;121(24):4382-4388. doi: 10.1002/cncr.29664. Epub 2015 Oct 6.
    • Does familial breast cancer and thymoma suggest a cancer syndrome? A family perspective.
    • Zhang X, Wang T, Wang W, Ding Y, Zhou L, Chen Q, Gao X, Wu Y, Mei Y, Jin Y, Gao Q, Yi L.
    • Gene. 2015 Dec 1;573(2):333-7. doi: 10.1016/j.gene.2015.08.069. Epub 2015 Sep 4.
    • Case report
    • [Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene -  Case Report].
    • Puchmajerová A, Švojgr K, Novotná D, Macháčková E, Sumerauer D, Smíšek P, Kodet R, Kynčl M, Křepelová A, Foretová L.
    • Klin Onkol. 2015 Winter;29 Suppl 1:89-92.
    • Case report, [Article in Czech]
    • Referrals to Genetic Counseling in Patients with Ovarian, Fallopian Tube, or Primary Peritoneal Cancer, an Institutional Review.
    • Jenny Backman, Zenas Chang, Sara Carroll, M. Heather Einstein.
    • Gynecologic Oncology. 2015 Dec;139(3):586. 2015 NEAGO ABSTRACTS. doi: 10.1016/j.ygyno.2015.09.029.
    • Conference abstract
    • Adenosquamous Carcinoma of the Pancreas in a Patient with BRCA2 Mutation: A Case Report.
    • Yeung V, Palmer JD, Williams N, Weinstein JC, Fortuna D, Sama A, Winter J, Bar-Ad V.
    • Case Rep Pancreat Cancer. 2015 Nov 1;1(1):22-25. doi: 10.1089/crpc.2015.29003.vye. eCollection 2015.
    • A model for estimating ovarian cancer risk: Application for preventive oophorectomy.
    • Giannakeas V, Sopik V, Shestopaloff K, Iqbal J, Rosen B, Akbari M, Narod SA.
    • Gynecol Oncol. 2015 Nov;139(2):242-247. doi: 10.1016/j.ygyno.2015.08.020. Epub 2015 Sep 2.
    • Cancer predisposing BARD1 mutations affect exon skipping and are associated with overexpression of specific BARD1 isoforms.
    • Ratajska M, Matusiak M, Kuzniacka A, Wasag B, Brozek I, Biernat W, Koczkowska M, Debniak J, Sniadecki M, Kozlowski P, Klonowska K, Pilyugin M, Wydra D, Laurent G, Limon J, Irminger-Finger I.
    • Oncol Rep. 2015 Nov;34(5):2609-17. doi: 10.3892/or.2015.4235. Epub 2015 Sep 1.
    • Germline BRCA Mutations in a Large Clinic-Based Cohort of Patients With Pancreatic Adenocarcinoma.
    • Holter S, Borgida A, Dodd A, Grant R, Semotiuk K, Hedley D, Dhani N, Narod S, Akbari M, Moore M, Gallinger S.
    • J Clin Oncol. 2015 Oct 1;33(28):3124-9. doi: 10.1200/JCO.2014.59.7401. Epub 2015 May 4.

    Comment / Editorial

    Assessing the Significance of BRCA1 and BRCA2 Mutations in Pancreatic Cancer.

    • Genetic testing for RAD51C mutations: in the clinic and community.
    • Sopik V, Akbari MR, Narod SA.
    • Clin Genet. 2015 Oct;88(4):303-12. doi: 10.1111/cge.12548. Epub 2015 Jan 7.
    • Review
    • Ovarian cancer in BRCA1/2 mutation carriers: The impact of mutation position and family history on the cancer risk.
    • Teixeira N, Mourits MJ, Vos JR, Kolk DM, Jansen L, Oosterwijk JC, Bock GH.
    • Maturitas. 2015 Oct;82(2):197-202. doi: 10.1016/j.maturitas.2015.07.001. Epub 2015 Jul 9.
    • BRCA2 N372H Polymorphism and Risk of Epithelial Ovarian Cancer: An Updated Meta-Analysis With 2344 Cases and 9672 Controls.
    • Su L, Wang J, Tao Y, Shao X, Ding Y, Cheng X, Zhu Y.
    • Medicine (Baltimore). 2015 Oct;94(42):e1695. doi: 10.1097/MD.0000000000001695.
    • Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.
    • Song H, Dicks E, Ramus SJ, Tyrer JP, Intermaggio MP, Hayward J, Edlund CK, Conti D, Harrington P, Fraser L, Philpott S, Anderson C, Rosenthal A, Gentry-Maharaj A, Bowtell DD, Alsop K, Cicek MS, Cunningham JM, Fridley BL, Alsop J, Jimenez-Linan M, Høgdall E, Høgdall CK, Jensen A, Kjaer SK, Lubiński J, Huzarski T, Jakubowska A, Gronwald J, Poblete S, Lele S, Sucheston-Campbell L, Moysich KB, Odunsi K, Goode EL, Menon U, Jacobs IJ, Gayther SA, Pharoah PD.
    • J Clin Oncol. 2015 Sep 10;33(26):2901-7. doi: 10.1200/JCO.2015.61.2408. Epub 2015 Aug 10.
    • A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine.
    • Hansen MF, Johansen J, Bjørnevoll I, Sylvander AE, Steinsbekk KS, Sætrom P, Sandvik AK, Drabløs F, Sjursen W.
    • Fam Cancer. 2015 Sep;14(3):437-48. doi: 10.1007/s10689-015-9803-2.
    • Familial Pancreatic Adenocarcinoma.
    • Petersen GM.
    • Hematol Oncol Clin North Am. 2015 Aug;29(4):641-53. doi: 10.1016/j.hoc.2015.04.007. Epub 2015 Jun 9.
    • Review
    • Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma.
    • Kim HS, Lee SW, Choi YJ, Shin SW, Kim YH, Cho MS, Lee SN, Park KH.
    • Cancer Res Treat. 2015 Jul;47(3):534-8. doi: 10.4143/crt.2013.151. Epub 2014 Oct 17.
    • Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers.
    • Domagala P, Jakubowska A, Jaworska-Bieniek K, Kaczmarek K, Durda K, Kurlapska A, Cybulski C, Lubinski J.
    • PLoS One. 2015 Jun 17;10(6):e0130393. doi: 10.1371/journal.pone.0130393.
    • DNA repair genes implicated in triple negative familial non-BRCA1/2 breast cancer predisposition.
    • Ollier M, Radosevic-Robin N, Kwiatkowski F, Ponelle F, Viala S, Privat M, Uhrhammer N, Bernard-Gallon D, Penault-Llorca F, Bignon YJ, Bidet Y.
    • Am J Cancer Res. 2015 Jun 15;5(7):2113-26. eCollection 2015.
    • Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup.
    • Miele E, Mastronuzzi A, Po A, Carai A, Alfano V, Serra A, Colafati GS, Strocchio L, Antonelli M, Buttarelli FR, Zani M, Ferraro S, Buffone A, Vacca A, Screpanti I, Giangaspero F, Giannini G, Locatelli F, Ferretti E.
    • Biomark Res. 2015 Jun 6;3:13. doi: 10.1186/s40364-015-0038-z. eCollection 2015.
    • upQMPSF, a Method for the Detection of BRCA1 Exon Copy Number Variants.
    • Azrak S.
    • Biochem Genet. 2015 Jun;53(4-6):141-57. doi: 10.1007/s10528-015-9681-1. Epub 2015 May 20.
    • BRCA2 gene: a candidate for clinical testing in familial colorectal cancer type X.
    • Garre P, Martín L, Sanz J, Romero A, Tosar A, Bando I, Llovet P, Diaque P, García-Paredes B, Díaz-Rubio E, de la Hoya M, Caldés T.
    • Clin Genet. 2015 Jun;87(6):582-7. doi: 10.1111/cge.12427. Epub 2014 Jun 18.
    • Response to "biologic, demographic, and social factors affecting triple negative breast cancer outcomes".
    • [No authors listed]
    • Clin J Oncol Nurs. 2015 Jun;19(3):244. doi: 10.1188/15.CJON.244.
    • Comment, Letter

    Biologic, demographic, and social factors affecting triple negative breast cancer outcomes.

    • Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing.
    • Ratajska M, Krygier M, Stukan M, Kuźniacka A, Koczkowska M, Dudziak M, Śniadecki M, Dębniak J, Wydra D, Brozek I, Biernat W, Borg A, Limon J, Wasąg B.
    • J Appl Genet. 2015 May;56(2):193-8. doi: 10.1007/s13353-014-0254-5. Epub 2014 Nov 1.
    • A Rare Truncating BRCA2 Variant and Genetic Susceptibility to Upper Aerodigestive Tract Cancer.
    • Delahaye-Sourdeix M, Anantharaman D, Timofeeva MN, Gaborieau V, Chabrier A, Vallée MP, Lagiou P, Holcátová I, Richiardi L, Kjaerheim K, Agudo A, Castellsagué X, Macfarlane TV, Barzan L, Canova C, Thakker NS, Conway DI, Znaor A, Healy CM, Ahrens W, Zaridze D, Szeszenia-Dabrowska N, Lissowska J, Fabianova E, Mates IN, Bencko V, Foretova L, Janout V, Curado MP, Koifman S, Menezes A, Wünsch-Filho V, Eluf-Neto J, Boffetta P, Fernández Garrote L, Polesel J, Lener M, Jaworowska E, Lubiński J, Boccia S, Rajkumar T, Samant TA, Mahimkar MB, Matsuo K, Franceschi S, Byrnes G, Brennan P, McKay JD.
    • J Natl Cancer Inst. 2015 Apr 2;107(5). pii: djv037. doi: 10.1093/jnci/djv037. Print 2015 May.

    Comment / Editorial

    BRCA2-Branching Out Too?

    News

    BRCA2 variant aerodigestive cancer risk.

    • Genetic evaluation based on family history and Her2 status correctly identifies TP53 mutations in very early onset breast cancer cases.
    • Fostira F, Konstantopoulou I, Mavroudis D, Tryfonopoulos D, Yannoukakos D, Voutsinas GE.
    • Clin Genet. 2015 Apr;87(4):383-7. doi: 10.1111/cge.12397. Epub 2014 Apr 29.
    • Case report
    • Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer.
    • Ni Y, Seballos S, Ganapathi S, Gurin D, Fletcher B, Ngeow J, Nagy R, Kloos RT, Ringel MD, LaFramboise T, Eng C.
    • Endocr Relat Cancer. 2015 Apr;22(2):121-30. doi: 10.1530/ERC-14-0537.
    • Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2.
    • Minion LE, Dolinsky JS, Chase DM, Dunlop CL, Chao EC, Monk BJ.
    • Gynecol Oncol. 2015 Apr;137(1):86-92. doi: 10.1016/j.ygyno.2015.01.537. Epub 2015 Jan 23.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: RAD50 Positive Letter

    • A targeted analysis identifies a high frequency of BRCA1 and BRCA2 mutation carriers in women with ovarian cancer from a founder population.
    • Belanger MH, Dolman L, Arcand SL, Shen Z, Chong G, Mes-Masson AM, Provencher D, Tonin PN.
    • J Ovarian Res. 2015 Mar 27;8(1):1. doi: 10.1186/s13048-015-0124-8.
    • ICan: An Integrated Co-Alteration Network to Identify Ovarian Cancer-Related Genes.
    • Zhou Y, Liu Y, Li K, Zhang R, Qiu F, Zhao N, Xu Y.
    • PLoS One. 2015 Mar 24;10(3):e0116095. doi: 10.1371/journal.pone.0116095. eCollection 2015.
    • Lobular breast cancer: molecular basis, mouse and cellular models.
    • Christgen M, Derksen P.
    • Breast Cancer Res. 2015 Feb 8;17:16. doi: 10.1186/s13058-015-0517-z.
    • Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
    • Couch FJ, Hart SN, Sharma P, Toland AE, Wang X, Miron P, Olson JE, Godwin AK, Pankratz VS, Olswold C, Slettedahl S, Hallberg E, Guidugli L, Davila JI, Beckmann MW, Janni W, Rack B, Ekici AB, Slamon DJ, Konstantopoulou I, Fostira F, Vratimos A, Fountzilas G, Pelttari LM, Tapper WJ, Durcan L, Cross SS, Pilarski R, Shapiro CL, Klemp J, Yao S, Garber J, Cox A, Brauch H, Ambrosone C, Nevanlinna H, Yannoukakos D, Slager SL, Vachon CM, Eccles DM, Fasching PA.
    • J Clin Oncol. 2015 Feb 1;33(4):304-11. doi: 10.1200/JCO.2014.57.1414. Epub 2014 Dec 1.

    Evolution of genetic testing for inherited susceptibility to breast cancer.

    • Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.
    • Wong-Brown MW, Meldrum CJ, Carpenter JE, Clarke CL, Narod SA, Jakubowska A, Rudnicka H, Lubinski J, Scott RJ.
    • Breast Cancer Res Treat. 2015 Feb;150(1):71-80. doi: 10.1007/s10549-015-3293-7. Epub 2015 Feb 15.

    Press: Breast cancer gene breakthrough. (Health Canal)

    • Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype.
    • Sawyer SL, Tian L, Kähkönen M, Schwartzentruber J, Kircher M, Majewski J, Dyment DA, Innes AM, Boycott KM, Moreau LA, Moilanen JS, Greenberg RA; University of Washington Centre for Mendelian Genomics.
    • Cancer Discov. 2015 Feb;5(2):135-42. doi: 10.1158/2159-8290.CD-14-1156. Epub 2014 Dec 3.
    • Familial risk of melanoma and links with other cancers.
    • Lee KC, Higgins HW 2nd, Qureshi AA.
    • Melanoma Manag. 2015 Feb;2(1):83-89. doi: 10.2217/mmt.14.34. Epub 2015 Feb 25.
    • Hereditary Ovarian Cancer: Not Only BRCA 1 and 2 Genes.
    • Toss A, Tomasello C, Razzaboni E, Contu G, Grandi G, Cagnacci A, Schilder RJ, Cortesi L.
    • Biomed Res Int. 2015;2015:341723. Epub 2015 May 17.
    • Germline MUTYH gene mutations are not frequently found in unselected patients with papillary breast carcinoma.
    • Boesaard EP, Vogelaar IP, Bult P, Wauters CA, van Krieken JH, Ligtenberg MJ, van der Post RS, Hoogerbrugge N.
    • Hered Cancer Clin Pract. 2014 Dec 12;12(1):21. doi: 10.1186/1897-4287-12-21. eCollection 2014.
    • Germline mutations in cancer susceptibility genes in brca1 and brca2 negative families with ovarian and breast cancer.
    • Norquist B, Harrell M, Walsh T, Mandell J, Agnew K, Lee M, Pennington K, King MC, Swisher E.
    • Gynecologic Oncology. 2014 Nov;135(2):383. 2014 WAGO ABSTRACTS. doi: 10.1016/j.ygyno.2014.07.011.
    • Conference abstract
    • Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer.
    • Kiiski JI, Pelttari LM, Khan S, Freysteinsdottir ES, Reynisdottir I, Hart SN, Shimelis H, Vilske S, Kallioniemi A, Schleutker J, Leminen A, Bützow R, Blomqvist C, Barkardottir RB, Couch FJ, Aittomäki K, Nevanlinna H.
    • Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):15172-7. doi: 10.1073/pnas.1407909111. Epub 2014 Oct 6.
    • BRCA1/2 Mutation Status Is an Independent Factor of Improved Survival for Advanced (Stage III-IV) Ovarian Cancer.
    • Rudaitis V, Zvirblis T, Kanopiene D, Janulynaite D, Griskevicius L, Janavicius R.
    • Int J Gynecol Cancer. 2014 Oct;24(8):1395-400. doi: 10.1097/IGC.0000000000000247.
    • Subgroups of familial and aggressive prostate cancer with considerable frequencies of BRCA2 mutations.
    • Maier C, Herkommer K, Luedeke M, Rinckleb A, Schrader M, Vogel W.
    • Prostate. 2014 Oct;74(14):1444-51. doi: 10.1002/pros.22860. Epub 2014 Aug 11.
    • The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.
    • Song H, Cicek MS, Dicks E, Harrington P, Ramus SJ, Cunningham JM, Fridley BL, Tyrer JP, Alsop J, Jimenez-Linan M, Gayther SA, Goode EL, Pharoah PD.
    • Hum Mol Genet. 2014 Sep 1;23(17):4703-9. doi: 10.1093/hmg/ddu172. Epub 2014 Apr 12.
    • [Gliomas and BRCA genes mutations: fortuitous association or imputability?].
    • Girardstein-Boccara L, Mari V, Met-Domestici M, Burel-Vandenbos F, Berthet P, Paquis P, Frenay MP, Lebrun-Frenay C.
    • Bull Cancer. 2014 Sep;101(9):795-802. doi: 10.1684/bdc.2014.1952.
    • Case report, [Article in French]
    • BRCA1 founder mutations compared to ovarian cancer in Belarus.
    • Savanevich A, Oszurek O, Lubiński J, Cybulski C, Dębniak T, Narod SA, Gronwald J.
    • Fam Cancer. 2014 Sep;13(3):445-7. doi: 10.1007/s10689-014-9721-8.
    • Sequence-based detection of mutations in cadherin 1 to determine the prevalence of germline mutations in patients with invasive lobular carcinoma of the breast.
    • Valente AL, Rummel S, Shriver CD, Ellsworth RE.
    • Hered Cancer Clin Pract. 2014 Jul 19;12(1):17. doi: 10.1186/1897-4287-12-17. eCollection 2014.
    • Absence of BRCA/FMR1 Correlations in Women with Ovarian Cancers.
    • Gleicher N, McAlpine JN, Gilks CB, Kushnir VA, Lee HJ, Wu YG, Lazzaroni-Tealdi E, Barad DH.
    • PLoS One. 2014 Jul 18;9(7):e102370. doi: 10.1371/journal.pone.0102370. eCollection 2014.
    • BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts.
    • Lucas AL, Frado LE, Hwang C, Kumar S, Khanna LG, Levinson EJ, Chabot JA, Chung WK, Frucht H.
    • Cancer. 2014 Jul 1;120(13):1960-7. doi: 10.1002/cncr.28662. Epub 2014 Apr 15.
    • A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients.
    • Seong MW, Kim KH, Chung IY, Kang E, Lee JW, Park SK, Lee MH, Lee JE, Noh DY, Son BH, Park HL, Cho SI, Park SS; Korean Hereditary Breast Cancer Study Group, Kim SW.
    • Breast Cancer Res Treat. 2014 Jul;146(1):63-9. doi: 10.1007/s10549-014-3006-7. Epub 2014 Jun 4.
    • Role of BRCA1 and BRCA2 gene mutations in epithelial ovarian cancer in Indian population: a pilot study.
    • Sharma S, Rajaram S, Sharma T, Goel N, Agarwal S, Banerjee BD.
    • Int J Biochem Mol Biol. 2014 May 15;5(1):1-10. eCollection 2014.
    • Genetic Susceptibility to Triple‐Negative Breast Cancers.
    • Michelle W Wong‐Brown, Rodney J Scott.
    • eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net ; 2014 May; doi: 10.1002/9780470015902.a0025352.
    • Risk factors for ovarian cancers with and without microsatellite instability.
    • Segev Y, Pal T, Rosen B, McLaughlin JR, Sellers TA, Risch HA, Zhang S, Sun P, Narod SA, Schildkraut J.
    • Int J Gynecol Cancer. 2014 May;24(4):664-9. doi: 10.1097/IGC.0000000000000134.
    • Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.
    • Ramos P, Karnezis AN, Craig DW, Sekulic A, Russell ML, Hendricks WP, Corneveaux JJ, Barrett MT, Shumansky K, Yang Y, Shah SP, Prentice LM, Marra MA, Kiefer J, Zismann VL, McEachron TA, Salhia B, Prat J, D'Angelo E, Clarke BA, Pressey JG, Farley JH, Anthony SP, Roden RB, Cunliffe HE, Huntsman DG, Trent JM.
    • Nat Genet. 2014 May;46(5):427-9. doi: 10.1038/ng.2928. Epub 2014 Mar 23.

    Comment:

    Genetics: SMARCA4 mutated in SCCOHT.

    • Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
    • Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B, Gilpin C, Castellsagué E, Silva-Smith R, Plourde F, Wu M, Saskin A, Arseneault M, Karabakhtsian RG, Reilly EA, Ueland FR, Margiolaki A, Pavlakis K, Castellino SM, Lamovec J, Mackay HJ, Roth LM, Ulbright TM, Bender TA, Georgoulias V, Longy M, Berchuck A, Tischkowitz M, Nagel I, Siebert R, Stewart CJ, Arseneau J, McCluggage WG, Clarke BA, Riazalhosseini Y, Hasselblatt M, Majewski J, Foulkes WD.
    • Nat Genet. 2014 May;46(5):438-43. doi: 10.1038/ng.2931. Epub 2014 Mar 23.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: SMARCA4

    News

    SMARCA4 mutated in SCCOHT

    • Lobular breast cancer in a CDH1 splice site mutation carrier: case report and review of the literature.
    • McVeigh TP, Choi JK, Miller NM, Green AJ, Kerin MJ.
    • Clin Breast Cancer. 2014 Apr;14(2):e47-51. doi: 10.1016/j.clbc.2013.10.007. Epub 2013 Oct 25.
    • Case Report, Review
    • Association Between IHC and MSI Testing to Identify Mismatch Repair-Deficient Patients with Ovarian Cancer.
    • Lee JH, Cragun D, Thompson Z, Coppola D, Nicosia SV, Akbari M, Zhang S, McLaughlin J, Narod S, Schildkraut J, Sellers TA, Pal T.
    • Genet Test Mol Biomarkers. 2014 Apr;18(4):229-35. doi: 10.1089/gtmb.2013.0393. Epub 2014 Mar 4.
    • Hereditary risk evaluation for borderline ovarian tumors based on immunohistochemistry.
    • Park JM, Kim MK.
    • J Menopausal Med. 2014 Apr;20(1):14-20. doi: 10.6118/jmm.2014.20.1.14. Epub 2014 Apr 28.
    • Triple-negative breast cancer frequency and type of BRCA mutation: Clues from Sardinia.
    • Palomba G, Budroni M, Olmeo N, Atzori F, Ionta MT, Pisano M, Tanda F, Cossu A, Palmieri G.
    • Oncol Lett. 2014 Apr;7(4):948-952. Epub 2014 Jan 28.
    • Surgically treated ovarian endometriosis association with BRCA1 and BRCA2 mutations.
    • Aviel-Ronen S, Soriano D, Shmuel E, Schonman R, Rosenblatt K, Zadok O, Vituri A, Seidman D, Barshack I, Cohen Y.
    • Pathol Res Pract. 2014 Apr;210(4):250-5. doi: 10.1016/j.prp.2013.12.011. Epub 2014 Jan 10.
    • Risk factors, pathological and phenotypic features of male breast cancer in Greece.
    • Tsoukalas N, Moirogiorgou E, Tolia M, Pistamaltzian N, Bournakis E, Papadimitriou K, Demiri S, Panopoulos C, Koumakis G, Efremidis A; Hellenic Society for the Study of Breast Cancer (HES-BRECA).
    • Anticancer Res. 2014 Mar;34(3):1291-4.
    • Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC).
    • Andrés R, Pajares I, Balmaña J, Llort G, Ramón Y Cajal T, Chirivella I, Aguirre E, Robles L, Lastra E, Pérez-Segura P, Bosch N, Yagüe C, Lerma E, Godino J, Miramar MD, Moros M, Astier P, Saez B, Vidal MJ, Arcusa A, Ramón Y Cajal S, Calvo MT, Tres A.
    • Clin Transl Oncol. 2014 Mar;16(3):280-4. doi: 10.1007/s12094-013-1070-9. Epub 2013 Aug 27.
    • Germline CDH1 mutations in bilateral lobular carcinoma in situ.
    • Petridis C, Shinomiya I, Kohut K, Gorman P, Caneppele M, Shah V, Troy M, Pinder SE, Hanby A, Tomlinson I, Trembath RC, Roylance R, Simpson MA, Sawyer EJ.
    • Br J Cancer. 2014 Feb 18;110(4):1053-7. doi: 10.1038/bjc.2013.792. Epub 2013 Dec 24.
    • Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.
    • Cunningham JM, Cicek MS, Larson NB, Davila J, Wang C, Larson MC, Song H, Dicks EM, Harrington P, Wick M, Winterhoff BJ, Hamidi H, Konecny GE, Chien J, Bibikova M, Fan JB, Kalli KR, Lindor NM, Fridley BL, Pharoah PP, Goode EL.
    • Sci Rep. 2014 Feb 7;4:4026. doi: 10.1038/srep04026.
    • Preliminary monocentric results of biological characteristics of pregnancy associated breast cancer.
    • Michieletto S, Saibene T, Evangelista L, Barbazza F, Grigoletto R, Rossi G, Ghiotto C, Bozza F.
    • Breast. 2014 Feb;23(1):19-25. doi: 10.1016/j.breast.2013.10.001. Epub 2013 Nov 1.
    • Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling.
    • Meyer S, Tischkowitz M, Chandler K, Gillespie A, Birch JM, Evans DG.
    • J Med Genet. 2014 Feb;51(2):71-5. doi: 10.1136/jmedgenet-2013-101642. Epub 2013 Nov 20.
    • An analysis of polymorphisms within the Wnt signaling pathway in relation to ovarian cancer risk in a Polish population.
    • Mostowska A, Pawlik P, Sajdak S, Markowska J, Pawałowska M, Lianeri M, Jagodzinski PP.
    • Mol Diagn Ther. 2014 Feb;18(1):85-91.
    • RNA profiling reveals familial aggregation of molecular subtypes in non-BRCA1/2 breast cancer families.
    • Larsen MJ, Thomassen M, Tan Q, Lænkholm AV, Bak M, Sørensen KP, Andersen MK, Kruse TA, Gerdes AM.
    • BMC Med Genomics. 2014 Jan 31;7(1):9. doi: 10.1186/1755-8794-7-9.
    • Integrated analysis of germline and somatic variants in ovarian cancer.
    • Kanchi KL, Johnson KJ, Lu C, McLellan MD, Leiserson MD, Wendl MC, Zhang Q, Koboldt DC, Xie M, Kandoth C, McMichael JF, Wyczalkowski MA, Larson DE, Schmidt HK, Miller CA, Fulton RS, Spellman PT, Mardis ER, Druley TE, Graubert TA, Goodfellow PJ, Raphael BJ, Wilson RK, Ding L.
    • Nat Commun. 2014 Jan 22;5:3156. doi: 10.1038/ncomms4156.
    • Mutation Analysis of the ERCC4/FANCQ Gene in Hereditary Breast Cancer.
    • Kohlhase S, Bogdanova NV, Schürmann P, Bermisheva M, Khusnutdinova E, Antonenkova N, Park-Simon TW, Hillemanns P, Meyer A, Christiansen H, Schindler D, Dörk T.
    • PLoS One. 2014 Jan 21;9(1):e85334. doi: 10.1371/journal.pone.0085334. eCollection 2014.
    • Family history and BRCA1/BRCA2 status among Japanese ovarian cancer patients and occult cancer in a BRCA1 mutant case.
    • Hirasawa A, Masuda K, Akahane T, Ueki A, Yokota M, Tsuruta T, Nomura H, Kataoka F, Tominaga E, Banno K, Makita K, Susumu N, Sugano K, Kosaki K, Kameyama K, Aoki D.
    • Jpn J Clin Oncol. 2014 Jan;44(1):49-56. doi: 10.1093/jjco/hyt171. Epub 2013 Nov 11.
    • A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype.
    • Fostira F, Tsoukalas N, Konstantopoulou I, Georgoulias V, Christophyllakis C, Yannoukakos D.
    • Case Rep Genet. 2014;2014:875029. doi: 10.1155/2014/875029. Epub 2014 Feb 10.
    • Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases.
    • Blanco A, de la Hoya M, Osorio A, Diez O, Miramar MD, Infante M, Martinez-Bouzas C, Torres A, Lasa A, Llort G, Brunet J, Graña B, Perez Segura P, Garcia MJ, Gutiérrez-Enríquez S, Carracedo A, Tejada MI, Velasco EA, Calvo MT, Balmaña J, Benitez J, Caldés T, Vega A.
    • PLoS One. 2013 Jul 23;8(7):e67538. doi: 10.1371/journal.pone.0067538. Print 2013.
    • High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions.
    • Lucas AL, Shakya R, Lipsyc MD, Mitchel EB, Kumar S, Hwang C, Deng L, Devoe C, Chabot JA, Szabolcs M, Ludwig T, Chung WK, Frucht H.
    • Clin Cancer Res. 2013 Jul 1;19(13):3396-403. doi: 10.1158/1078-0432.CCR-12-3020. Epub 2013 May 8.

    Research news:

    Delineating the effects BRCA1 and BRCA2 loss of heterozygosity in pancreatic cancer progression.

    • Evidence for predictive role of BRCA1 and bTUBIII in gastric cancer.
    • Moiseyenko VM, Volkov NM, Suspistin EN, Yanus GA, Iyevleva AG, Kuligina ESh, Togo AV, Kornilov AV, Ivantsov AO, Imyanitov EN.
    • Med Oncol. 2013 Jun;30(2):545. doi: 10.1007/s12032-013-0545-4. Epub 2013 Mar 27.
    • Association of primary breast cancer of the vulva with hereditary breast and ovarian cancer.
    • Lamb A, Darus CJ, Skripenova S, Weisberg T, Miesfeldt S.
    • J Clin Oncol. 2013 May 1;31(13):e231-2. doi: 10.1200/JCO.2012.45.5972. Epub 2013 Mar 25.
    • Case report
    • Perivascular epithelioid cell tumor: the first malignant case report in the pancreas.
    • Mourra N, Lazure T, Colas C, Arrive L, de Gramont A.
    • Appl Immunohistochem Mol Morphol. 2013 May;21(3):e1-4. doi: 10.1097/PAI.0b013e3182392bb6.
    • Case report
    • Risk of pancreatic cancer in breast cancer families from the breast cancer family registry.
    • Mocci E, Milne RL, Méndez-Villamil EY, Hopper JL, John EM, Andrulis IL, Chung WK, Daly M, Buys SS, Malats N, Goldgar DE.
    • Cancer Epidemiol Biomarkers Prev. 2013 May;22(5):803-11. doi: 10.1158/1055-9965.EPI-12-0195. Epub 2013 Mar 1.
    • Combined and Interactive Effects of Environmental and GWAS-Identified Risk Factors in Ovarian Cancer.
    • Pearce CL, Rossing MA, Lee AW, Ness RB, Webb PM; for Australian Cancer Study (Ovarian Cancer); Australian Ovarian Cancer Study Group, Chenevix-Trench G, Jordan SM, Stram DA, Chang-Claude J, Hein R, Nickels S, Lurie G, Thompson PJ, Carney ME, Goodman MT, Moysich K, Hogdall E, Jensen A, Goode EL, Fridley BL, Cunningham JM, Vierkant RA, Weber RP, Ziogas A, Anton-Culver H, Gayther SA, Gentry-Maharaj A, Menon U, Ramus SJ, Brinton L, Wentzensen N, Lissowska J, Garcia-Closas M, Massuger LF, Kiemeney LA, Van Altena AM, Aben KK, Berchuck A, Doherty JA, Iversen E, McGuire V, Moorman PG, Pharoah P, Pike MC, Risch H, Sieh W, Stram DO, Terry KL, Whittemore A, Wu AH, Schildkraut JM, Kjaer SK; Ovarian Cancer Association Consortium.
    • Cancer Epidemiol Biomarkers Prev. 2013 May;22(5):880-90. doi: 10.1158/1055-9965.EPI-12-1030-T. Epub 2013 Mar 5.
    • Identification of common variants in BRCA2 and MAP2K4 for susceptibility to sporadic pancreatic cancer.
    • Huang L, Wu C, Yu D, Wang C, Che X, Miao X, Zhai K, Chang J, Jiang G, Yang X, Cao G, Hu Z, Zhou Y, Zuo C, Wang C, Zhang X, Zhou Y, Yu X, Dai W, Li Z, Shen H, Liu L, Chen Y, Zhang S, Wang X, Liu Y, Sun M, Cao W, Gao J, Ma Y, Zheng X, Cheung ST, Jia Y, Tan W, Wu T, Lin D.
    • Carcinogenesis. 2013 May;34(5):1001-5. doi: 10.1093/carcin/bgt004. Epub 2013 Jan 8.
    • Germline RAD51C mutations in ovarian cancer susceptibility.
    • Coulet F, Fajac A, Colas C, Eyries M, Dion-Minière A, Rouzier R, Uzan S, Lefranc JP, Carbonnel M, Cornelis F, Cortez A, Soubrier F.
    • Clin Genet. 2013 Apr;83(4):332-6. doi: 10.1111/j.1399-0004.2012.01917.x. Epub 2012 Jul 23.
    • Synchronous ovarian dysgerminoma and breast carcinoma in a patient with positive immunostain of BRCA1.
    • Băltătescu GI, Așchie M, Sârbu V.
    • Chirurgia (Bucur). 2013 Mar-Apr;108(2):259-63.
    • Characteristics of women with ovarian carcinoma who have BRCA1 and BRCA2 mutations not identified by clinical testing.
    • Norquist BM, Pennington KP, Agnew KJ, Harrell MI, Pennil CC, Lee MK, Casadei S, Thornton AM, Garcia RL, Walsh T, Swisher EM.
    • Gynecol Oncol. 2013 Mar;128(3):483-7. doi: 10.1016/j.ygyno.2012.12.015. Epub 2012 Dec 19.
    • An inherited NBN mutation is associated with poor prognosis prostate cancer.
    • Cybulski C, Wokołorczyk D, Kluźniak W, Jakubowska A, Górski B, Gronwald J, Huzarski T, Kashyap A, Byrski T, Dębniak T, Gołąb A, Gliniewicz B, Sikorski A, Switała J, Borkowski T, Borkowski A, Antczak A, Wojnar L, Przybyła J, Sosnowski M, Małkiewicz B, Zdrojowy R, Sikorska-Radek P, Matych J, Wilkosz J, Różański W, Kiś J, Bar K, Bryniarski P, Paradysz A, Jersak K, Niemirowicz J, Słupski P, Jarzemski P, Skrzypczyk M, Dobruch J, Domagała P, Narod SA, Lubiński J.
    • Br J Cancer. 2013 Feb 5;108(2):461-8. doi: 10.1038/bjc.2012.486. Epub 2012 Nov 13.
    • Genetics of Susceptibility to Sporadic Ovarian Cancer.
    • Katabathina VS, Prasad SR.
    • eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net. doi: 10.1002/9780470015902.a0023853. 2013 Feb.
    • Germline DNA copy number aberrations identified as potential prognostic factors for breast cancer recurrence.
    • Sapkota Y, Ghosh S, Lai R, Coe BP, Cass CE, Yasui Y, Mackey JR, Damaraju S.
    • PLoS One. 2013;8(1):e53850. doi: 10.1371/journal.pone.0053850. Epub 2013 Jan 16.

    Press: Simple Blood Test Reveals DNA Marker That Predicts Breast Cancer Recurrence. (Medical News Today)

    • Contribution of the PALB2 c.2323C>T [p.Q775X] founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent.
    • Tischkowitz M, Sabbaghian N, Hamel N, Pouchet C, Foulkes WD, Mes-Masson AM, Provencher DM, Tonin PN.
    • BMC Med Genet. 2013 Jan 9;14:5. doi: 10.1186/1471-2350-14-5.
    • Paget disease of the breast with invasion from nipple skin into the dermis: an unusual type of skin invasion not associated with an adverse outcome.
    • Sanders MA, Dominici L, Denison C, Golshan M, Wiecorek T, Lester SC.
    • Arch Pathol Lab Med. 2013 Jan;137(1):72-6. doi: 10.5858/arpa.2011-0611-OA.
    • Inherited pancreatic cancer syndromes.
    • Solomon S, Das S, Brand R, Whitcomb DC.
    • Cancer J. 2012 Nov-Dec;18(6):485-91. doi: 10.1097/PPO.0b013e318278c4a6.
    • BRCA1 and BRCA2 mutations among familial breast cancer patients from Costa Rica.
    • Gutiérrez Espeleta G, Llacuachaqui M, García-Jiménez L, Aguilar Herrera M, Loáiciga Vega K, Ortiz A, Royer R, Li S, Narod S.
    • Clin Genet. 2012 Nov;82(5):484-8. doi: 10.1111/j.1399-0004.2011.01774.x. Epub 2011 Oct 5.
    • Prevalence of loss of expression of DNA mismatch repair proteins in primary epithelial ovarian tumors.
    • Lu FI, Gilks CB, Mulligan AM, Ryan P, Allo G, Sy K, Shaw PA, Pollett A, Clarke BA.
    • Int J Gynecol Pathol. 2012 Nov;31(6):524-31. doi: 10.1097/PGP.0b013e31824fe2aa.
    • Functional single-nucleotide polymorphisms in the BRCA1 gene and risk of salivary gland carcinoma.
    • Xu L, Doan PC, Wei Q, Li G, Sturgis EM.
    • Oral Oncol. 2012 Sep;48(9):842-7. doi: 10.1016/j.oraloncology.2012.03.012. Epub 2012 Apr 12.
    • The retinoblastoma gene undergoes rearrangements in BRCA1-deficient basal-like breast cancer.
    • Jönsson G, Staaf J, Vallon-Christersson J, Ringnér M, Gruvberger-Saal SK, Saal LH, Holm K, Hegardt C, Arason A, Fagerholm R, Persson C, Grabau D, Johnsson E, Lövgren K, Magnusson L, Heikkilä P, Agnarsson BA, Johannsson OT, Malmström P, Fernö M, Olsson H, Loman N, Nevanlinna H, Barkardottir RB, Borg Å.
    • Cancer Res. 2012 Aug 15;72(16):4028-36. Epub 2012 Jun 15.
    • Comparison of the effects of genetic and environmental risk factors on in situ and invasive ductal breast cancer.
    • Reeves GK, Pirie K, Green J, Bull D, Beral V; For the Million Women Study Collaborators.
    • Int J Cancer. 2012 Aug 15;131(4):930-937. doi: 10.1002/ijc.26460. Epub 2011 Nov 28.
    • Prediction of BRCA1 germline mutation status in women with ovarian cancer using morphology-based criteria: identification of a BRCA1 ovarian cancer phenotype.
    • Fujiwara M, McGuire VA, Felberg A, Sieh W, Whittemore AS, Longacre TA.
    • Am J Surg Pathol. 2012 Aug;36(8):1170-7. doi: 10.1097/PAS.0b013e31825d9b8d.
    • Germline BRCA1 and BRCA2 mutations in ovarian cancer: utility of a histology-based referral strategy.
    • Schrader KA, Hurlburt J, Kalloger SE, Hansford S, Young S, Huntsman DG, Gilks CB, McAlpine JN.
    • Obstet Gynecol. 2012 Aug;120(2 Pt 1):235-40. doi: 10.1097/AOG.0b013e31825f3576.

    Editorial:

    Genetic testing in ovarian cancer: getting better, and maybe not just for disease susceptibility anymore.

    • Genetic testing by cancer site: pancreas.
    • Axilbund JE, Wiley EA.
    • Cancer J. 2012 Jul-Aug;18(4):350-4. doi: 10.1097/PPO.0b013e3182624694.
    • Review
    • Genetic testing by cancer site: stomach.
    • Chun N, Ford JM.
    • Cancer J. 2012 Jul-Aug;18(4):355-63. doi: 10.1097/PPO.0b013e31826246dc.
    • Review
    • Familial intraductal papillary mucinous neoplasms of the pancreas.
    • Rebours V, Couvelard A, Peyroux JL, Sauvanet A, Hammel P, Ruszniewski P, Lévy P.
    • Dig Liver Dis. 2012 May;44(5):442-6. doi: 10.1016/j.dld.2011.07.003. Epub 2011 Aug 6.
    • Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated.
    • Harinck F, Kluijt I, van Mil SE, Waisfisz Q, van Os TA, Aalfs CM, Wagner A, Olderode-Berends M, Sijmons RH, Kuipers EJ, Poley JW, Fockens P, Bruno MJ.
    • Eur J Hum Genet. 2012 May;20(5):577-9. doi: 10.1038/ejhg.2011.226. Epub 2011 Dec 14.
    • Germline RAD51C mutations confer susceptibility to ovarian cancer.
    • Loveday C, Turnbull C, Ruark E, Xicola RM, Ramsay E, Hughes D, Warren-Perry M, Snape K; Breast Cancer Susceptibility Collaboration (BCSC) (UK), Eccles D, Evans DG, Gore M, Renwick A, Seal S, Antoniou AC, Rahman N.
    • Nat Genet. 2012 Apr 26;44(5):475-6. doi: 10.1038/ng.2224.
    • Letter

    Letter:

    Germline RAD51C mutations confer susceptibility to ovarian cancer.

    • Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients.
    • Lee DS, Yoon SY, Looi LM, Kang P, Kang IN, Sivanandan K, Ariffin H, Thong MK, Chin KF, Mohd Taib NA, Yip CH, Teo SH.
    • Breast Cancer Res. 2012 Apr 16;14(2):R66.
    • Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families.
    • Osher DJ, De Leeneer K, Michils G, Hamel N, Tomiak E, Poppe B, Leunen K, Legius E, Shuen A, Smith E, Arseneau J, Tonin P, Matthijs G, Claes K, Tischkowitz MD, Foulkes WD.
    • Br J Cancer. 2012 Apr 10;106(8):1460-3. doi: 10.1038/bjc.2012.87. Epub 2012 Mar 13.
    • [Clinical aspects of familial ovarian cancer - current status and issues in Japan].
    • Sekine M, Yoshihara K, Tanaka K.
    • Gan To Kagaku Ryoho. 2012 Apr;39(4):506-11.
    • [Article in Japanese]
    • A case of endometrial cancer in the context of a BRCA2 mutation and double heterozygosity for Lynch syndrome.
    • Gong P, Charles S, Rosenblum N, Wang Z, Witkiewicz AK.
    • Gynecol Oncol Case Rep. 2012 Mar 15;2(3):69-72. doi: 10.1016/j.gynor.2012.03.001. eCollection 2012.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Comments?

    • Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy.
    • Ghiorzo P, Pensotti V, Fornarini G, Sciallero S, Battistuzzi L, Belli F, Bonelli L, Borgonovo G, Bruno W, Gozza A, Gargiulo S, Mastracci L, Nasti S, Palmieri G, Papadia F, Pastorino L, Russo A, Savarino V, Varesco L, Bernard L, Bianchi Scarrà G; Genoa Pancreatic Cancer Study Group.
    • Fam Cancer. 2012 Mar;11(1):41-7. doi: 10.1007/s10689-011-9483-5.
    • Hereditary ovarian cancer: Beyond the usual suspects.
    • Pennington KP, Swisher EM.
    • Gynecol Oncol. 2012 Feb;124(2):347-53. doi: 10.1016/j.ygyno.2011.12.415.
    • Review
    • Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer.
    • Stadler ZK, Salo-Mullen E, Patil SM, Pietanza MC, Vijai J, Saloustros E, Hansen NA, Kauff ND, Kurtz RC, Kelsen DP, Offit K, Robson ME.
    • Cancer. 2012 Jan 15;118(2):493-9. doi: 10.1002/cncr.26191. Epub 2011 May 19.
    • Genetic susceptibility to pancreatic cancer.
    • Klein AP.
    • Mol Carcinog. 2012 Jan;51(1):14-24. doi: 10.1002/mc.20855.
    • Intraductal papillary mucinous neoplasm of the pancreas: associated cancers, family history, genetic predisposition?
    • Lubezky N, Ben-Haim M, Lahat G, Marmor S, Solar I, Brazowski E, Nackache R, Klausner JM.
    • Surgery. 2012 Jan;151(1):70-5. doi: 10.1016/j.surg.2011.06.036. Epub 2011 Oct 5.

    Comment/Letter:

    Medial or lateral approach for laparoscopic splenic vessel-preserving distal pancreatectomy?

    Comment/Letter:

    Intraductal papillary mucinous neoplasm was associated with pancreatic carcinogenesis, but not with systemic carcinogenesis.