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    • BRCA Mutation and Its Association With Colorectal Cancer.
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    • Clin Colorectal Cancer. 2018 Dec;17(4):e647-e650. doi: 10.1016/j.clcc.2018.06.006. Epub 2018 Jul 3.
    • Germline pathogenic variants identified in women with ovarian tumors.
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    • Gynecol Oncol. 2018 Dec;151(3):481-488. doi: 10.1016/j.ygyno.2018.09.030. Epub 2018 Oct 12.
    • Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial.
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    • BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis.
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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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    • Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing.
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    • Serous ovarian carcinoma in patients with Lynch syndrome: Caution is warranted.
    • Benusiglio PR, Coulet F.
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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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    • Case report
    • BRCA1/2 mutations are not a common cause of malignant melanoma in the Polish population.
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    • Surgical and molecular characterization of primary and metastatic disease in a neuroendocrine tumor arising in a tailgut cyst.
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    • Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma.
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    • Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms.
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    • J Natl Cancer Inst. 2018 Oct 1;110(10):1067-1074. doi: 10.1093/jnci/djy024.
    • 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
    • Impact of BRCA Mutation Status on Survival of Women With Triple-negative Breast Cancer.
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    • Pathology findings and clinical outcomes after risk reduction salpingo-oophorectomy in BRCA mutation carriers: a multicenter Spanish study.
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    • Clin Transl Oncol. 2018 Oct;20(10):1337-1344. doi: 10.1007/s12094-018-1865-9. Epub 2018 Apr 5.
    • BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls.
    • Li A, Xie R, Zhi Q, Deng Y, Wu Y, Li W, Yang L, Jiao Z, Luo J, Zi Y, Sun G, Zhang J, Shi Y, Liu J.
    • Gynecol Oncol. 2018 Oct;151(1):145-152. doi: 10.1016/j.ygyno.2018.07.024. Epub 2018 Aug 2.
    • Rare loss of function variants in candidate genes and risk of colorectal cancer.
    • Rosenthal EA, Shirts BH, Amendola LM, Horike-Pyne M, Robertson PD, Hisama FM, Bennett RL, Dorschner MO, Nickerson DA, Stanaway IB, Nassir R, Vickers KT, Li C, Grady WM, Peters U, Jarvik GP; NHLB GO Exome Sequencing Project.
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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.
    • Aravind Kumar M, Naushad SM, Narasimgu N, Nagaraju Naik S, Kadali S, Shanker U, Lakshmi Narasu M.
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    • Prospective study of germline genetic testing in incident cases of pancreatic adenocarcinoma.
    • Brand R, Borazanci E, Speare V, Dudley B, Karloski E, Peters MLB, Stobie L, Bahary N, Zeh H, Zureikat A, Hogg M, Lee K, Tsung A, Rhee J, Ohr J, Sun W, Lee J, Moser AJ, DeLeonardis K, Krejdovsky J, Dalton E, LaDuca H, Dolinsky J, Colvin A, Lim C, Black MH, Tung N.
    • 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.
    • Rafnar T, Sigurjonsdottir GR, Stacey SN, Halldorsson G, Sulem P, Pardo LM, Helgason H, Sigurdsson ST, Gudjonsson T, Tryggvadottir L, Olafsdottir GH, Jonasson JG, Alexiusdottir K, Sigurdsson A, Gudmundsson J, Saemundsdottir J, Sigurdsson JK, Johannsdottir H, Uitterlinden A, Vermeulen SH, Galesloot TE, Allain DC, Lacko M, Sigurgeirsson B, Thorisdottir K, Johannsson OT, Sigurdsson F, Ragnarsson GB, Isaksson H, Hardardottir H, Gudbjartsson T, Gudbjartsson DF, Masson G, Kiemeney LAML, Ewart Toland A, Nijsten T, Peters WHM, Olafsson JH, Jonsson S, Thorsteinsdottir U, Thorleifsson G, Stefansson K.
    • J Natl Cancer Inst. 2018 Sep 1;110(9):967-974. doi: 10.1093/jnci/djy002.

    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.
    • 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.
    • Exceptional Response to Dacarbazine in Uterine Leiomyosarcoma With Homozygous BRCA2 Deletion Highlights the Role of Homologous Recombination in Response to DNA Damage From Alkylating Agents.
    • Ingham MA, McGuinness JE, Kalinsky K, Schwartz GK.
    • JCO Precis Oncol. 2018 Nov [2018 Aug 18];2:1-6. doi: 10.1200/PO.18.00131.
    • 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.
    • F1000Res. 2018 Aug 2;7. pii: F1000 Faculty Rev-1173. doi: 10.12688/f1000research.14499.1. eCollection 2018.
    • 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.
    • Hu C, LaDuca H, Shimelis H, Polley EC, Lilyquist J, Hart SN, Na J, Thomas A, Lee KY, Davis BT, Black MH, Pesaran T, Goldgar DE, Dolinsky JS, Couch FJ.
    • JCO Precis Oncol. 2018;2. doi: 10.1200/PO.17.00291. Epub 2018 Jul 25.
    • Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.
    • Chan GHJ, Ong PY, Low JJH, Kong HL, Ow SGW, Tan DSP, Lim YW, Lim SE, Lee SC.
    • Oncotarget. 2018 Jul 17;9(55):30649-30660. doi: 10.18632/oncotarget.25769. eCollection 2018 Jul 17.
    • 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.
    • Genes (Basel). 2018 Jul 11;9(7). pii: E349. doi: 10.3390/genes9070349.
    • Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
    • Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer , Casey , Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium, Tischkowitz MD, Maher ER.
    • Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14.
    • Pathogenic germline BRCA1/2 mutations and familial predisposition to gastric cancer.
    • Ichikawa H, Wakai T, Nagahashi M, Shimada Y, Hanyu T, Kano Y, Muneoka Y, Ishikawa T, Takizawa K, Tajima Y, Sakata J, Kobayashi T, Kemeyama H, Yabusaki H, Nakagawa S, Sato N, Kawasaki T, Homma K, Okuda S, Lyle S, Takabe K.
    • JCO Precis Oncol. 2018;2. doi: 10.1200/PO.18.00097. Epub 2018 Jul 5.
    • 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.
    • Young EL, Thompson BA, Neklason DW, Firpo MA, Werner T, Bell R, Berger J, Fraser A, Gammon A, Koptiuch C, Kohlmann WK, Neumayer L, Goldgar DE, Mulvihill SJ, Cannon-Albright LA, Tavtigian SV.
    • BMC Cancer. 2018 Jun 27;18(1):697. doi: 10.1186/s12885-018-4573-5.
    • Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.
    • Hu C, Hart SN, Polley EC, Gnanaolivu R, Shimelis H, Lee KY, Lilyquist J, Na J, Moore R, Antwi SO, Bamlet WR, Chaffee KG, DiCarlo J, Wu Z, Samara R, Kasi PM, McWilliams RR, Petersen GM, Couch FJ.
    • JAMA. 2018 Jun 19;319(23):2401-2409. doi: 10.1001/jama.2018.6228.

    Editorial:

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

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

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

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    • Mutations in Known and Novel cancer Susceptibility Genes in Young Patients with Pancreatic Cancer.
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    • Arch Iran Med. 2018 Jun 1;21(6):228-233.
    • Malignant Abnormalities in Male BRCA Mutation Carriers: Results From a Prospectively Screened Cohort.
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    • Brain Metastases in Pancreatic Ductal Adenocarcinoma: Assessment of Molecular Genotype-Phenotype Features-An Entity With an Increasing Incidence?
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    • Complete Remission Following Pembrolizumab in a Woman with Mismatch Repair-Deficient Endometrial Cancer and a Germline BRCA1 Mutation.
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    • Oncologist. 2018 Jun;23(6):650-653. doi: 10.1634/theoncologist.2017-0526. Epub 2018 Feb 22.
    • Therapy susceptible germline-related BRCA 1-mutation in a case of metastasized mixed adeno-neuroendocrine carcinoma (MANEC) of the small bowel.
    • Quaas A, Waldschmidt D, Alakus H, Zander T, Heydt C, Goeser T, Daheim M, Kasper P, Plum P, Bruns C, Brunn A, Roth W, Hartmann N, Bunck A, Schmidt M, Göbel H, Tharun L, Buettner R, Merkelbach-Bruse S.
    • BMC Gastroenterol. 2018 May 31;18(1):75. doi: 10.1186/s12876-018-0803-1.
    • Mutations in BRCA1, BRCA2, and PALB2, and a panel of 50 cancer-associated genes in pancreatic ductal adenocarcinoma.
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    • Sci Rep. 2018 May 25;8(1):8105. doi: 10.1038/s41598-018-26526-x.
    • A Novel de novo CDH1 Germline Variant Aids in the Classification of C-terminal E-cadherin Alterations Predicted to Escape Nonsense-Mediated mRNA Decay.
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    • Characteristics of African American women at high-risk for ovarian cancer in the southeast: Results from a Gynecologic Cancer Risk Assessment Clinic.
    • Barrington DA, Champion ML, Boitano TKL, Walters-Haygood CL, Farmer MB, Alvarez RD, Estes JM, Leath CA 3rd.
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    • Small cell cancers of the female genital tract: Molecular and clinical aspects.
    • Patibandla JR, Fehniger JE, Levine DA, Jelinic P.
    • Gynecol Oncol. 2018 May;149(2):420-427. doi: 10.1016/j.ygyno.2018.02.004. Epub 2018 Feb 17.
    • Review
    • Somatic BRCA1 mutations in clinically sporadic breast cancer with medullary histological features.
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    • Genomic Characterization of Biliary Tract Cancers Identifies Driver Genes and Predisposing Mutations.
    • Wardell CP, Fujita M, Yamada T, Simbolo M, Fassan M, Karlic R, Polak P, Kim J, Hatanaka Y, Maejima K, Lawlor RT, Nakanishi Y, Mitsuhashi T, Fujimoto A, Furuta M, Ruzzenente A, Conci S, Oosawa A, Sasaki-Oku A, Nakano K, Tanaka H, Yamamoto Y, Michiaki K, Kawakami Y, Aikata H, Ueno M, Hayami S, Gotoh K, Ariizumi SI, Yamamoto M, Yamaue H, Chayama K, Miyano S, Getz G, Scarpa A, Hirano S, Nakamura T, Nakagawa H.
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    • Defects in homologous recombination repair genes are associated with good prognosis and clinical sensitivity to DNA-damaging agents in pancreatic cancer: A case report.
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    • Genetic susceptibility markers for a breast-colorectal cancer phenotype: Exploratory results from genome-wide association studies.
    • Pande M, Joon A, Brewster AM, Chen WV, Hopper JL, Eng C, Shete S, Casey G, Schumacher F, Lin Y, Harrison TA, White E, Ahsan H, Andrulis IL, Whittemore AS, John EM, Ko Win A, Makalic E, Schmidt DF, Kapuscinski MK, Ochs-Balcom HM, Gallinger S, Jenkins MA, Newcomb PA, Lindor NM, Peters U, Amos CI, Lynch PM.
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    • Familial pancreatic cancer asociated to germline mutation of BRCA2.
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    • Letter, [Article in English, Spanish]
    • Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
    • Yehia L, Ni Y, Sesock K, Niazi F, Fletcher B, Chen HJL, LaFramboise T, Eng C.
    • PLoS Genet. 2018 Apr 23;14(4):e1007352. doi: 10.1371/journal.pgen.1007352. eCollection 2018 Apr.
    • Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy.
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    • Sebaceous carcinoma of the breast in a patient with a pathogenic BRCA2 (886delGT) mutation - focus on histopathologic and immunohistochemical features.
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    • Case report
    • The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes.
    • Slavin TP, Neuhausen SL, Nehoray B, Niell-Swiller M, Solomon I, Rybak C, Blazer K, Adamson A, Yang K, Sand S, Guerrero-Llamas N, Castillo D, Herzog J, Wu X, Tao S, Raja S, Chung V, Singh G, Nadesan S, Brown S, Cruz-Correa M, Petersen GM, Weitzel J; Clinical Cancer Genomics Community Research Network (CCGCRN).
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    • Xiao X, Dong D, He W, Song L, Wang O, Yue J, Xie L.
    • Gynecol Oncol. 2018 Apr;149(1):146-154. doi: 10.1016/j.ygyno.2018.02.009. Epub 2018 Mar 1.
    • BRCA1/BRCA2 Germline Mutation Carriers and Sporadic Pancreatic Ductal Adenocarcinoma.
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    • J Am Coll Surg. 2018 Apr;226(4):630-637.e1. doi: 10.1016/j.jamcollsurg.2017.12.021. Epub 2018 Jan 5.
    • Non-small cell neuroendocrine carcinoma of the ovary in a BRCA2-germline mutation carrier: A case report and brief review of the literature.
    • Herold N, Wappenschmidt B, Markiefka B, Keupp K, Kröber S, Hahnen E, Schmutzler R, Rhiem K.
    • Oncol Lett. 2018 Apr;15(4):4093-4096. doi: 10.3892/ol.2018.7836. Epub 2018 Jan 22.
    • Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history.
    • Engel C, Rhiem K, Hahnen E, Loibl S, Weber KE, Seiler S, Zachariae S, Hauke J, Wappenschmidt B, Waha A, Blümcke B, Kiechle M, Meindl A, Niederacher D, Bartram CR, Speiser D, Schlegelberger B, Arnold N, Wieacker P, Leinert E, Gehrig A, Briest S, Kast K, Riess O, Emons G, Weber BHF, Engel J, Schmutzler RK; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC).
    • BMC Cancer. 2018 Mar 7;18(1):265. doi: 10.1186/s12885-018-4029-y.
    • Breast Cancer is Common in Women With Ovarian Malignant Mixed Mullerian Tumors.
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    • Am J Clin Oncol. 2018 Mar;41(3):286-288. doi: 10.1097/COC.0000000000000266.
    • Peritoneal cancer arising after total abdominal hysterectomy and bilateral salpingo-oophorectomy for cervical cancer in a patient with right breast cancer and germline mutation of BRCA1 gene: a case report and literature review.
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    • Breast Cancer. 2018 Mar;25(2):243-249. doi: 10.1007/s12282-017-0813-9. Epub 2017 Nov 1.
    • Case report, Review
    • Recommendations for biomarker testing in epithelial ovarian cancer: a National Consensus Statement by the Spanish Society of Pathology and the Spanish Society of Medical Oncology.
    • Oaknin A, Guarch R, Barretina P, Hardisson D, González A, Matías-Guiu X, Pérez-Fidalgo A, Vieites B, Romero I, Palacios J.
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    • Phenotypic characteristics of colorectal cancer in BRCA1/2 mutation carriers.
    • Grinshpun A, Halpern N, Granit RZ, Hubert A, Hamburger T, Laitman Y, Shacham-Shmueli E, Peerless Y, Friedman E, Peretz T.
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    • A19 Frequency of BRCA1 and BRCA2 founder mutations among ovarian cancer patients from Podkarpackie Voivodeship.
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    • Conference abstract
    • Paternal lineage early onset hereditary ovarian cancers: A Familial Ovarian Cancer Registry study.
    • Eng KH, Szender JB, Etter JL, Kaur J, Poblete S, Huang RY, Zhu Q, Grzesik KA, Battaglia S, Cannioto R, Krolewski JJ, Zsiros E, Frederick PJ, Lele SB, Moysich KB, Odunsi KO.
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    • Comparison of Practice Guidelines, BRCAPRO, and Genetic Counselor Estimates to Identify Germline BRCA1 and BRCA2 Mutations in Pancreatic Cancer.
    • Grant RC, Holter S, Borgida A, Dhani NC, Hedley DW, Knox JJ, Akbari MR, Zogopoulos G, Gallinger S.
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    • Review
    • Homologous Recombination Deficiency in Patients With Pancreatic Ductal Adenocarcinoma and Response to Chemotherapy.
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    • JCO Precis Oncol. 2018 Nov [Epub 2018 Jan 19];2:1-11. doi: 10.1200/PO.17.00087.

    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.
    • Smith AL, Wong C, Cuggia A, Borgida A, Holter S, Hall A, Connor AA, Bascuñana C, Asselah J, Bouganim N, Poulin V, Jolivet J, Vafiadis P, Le P, Martel G, Lemay F, Beaudoin A, Rafatzand K, Chaudhury P, Barkun J, Metrakos P, Marcus V, Omeroglu A, Chong G, Akbari MR, Foulkes WD, Gallinger S, Zogopoulos G.
    • JCO Precis Oncol. 2018 Nov [Epub 2018 Jan 19];2:1-16. doi: 10.1200/PO.17.00098.

    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. 2018 Nov [Epub 2018 Jan 19];2:1-9. doi: 10.1200/PO.17.00152.

    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.
    • Palmirotta R, Lovero D, Stucci LS, Silvestris E, Quaresmini D, Cardascia A, Silvestris F.
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    • Hereditary diffuse gastric cancer: One family's story.
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    • World J Clin Cases. 2018 Jan 16;6(1):1-5. doi: 10.12998/wjcc.v6.i1.1.
    • Prevalent somatic BRCA1 mutations shape clinically relevant genomic patterns of nasopharyngeal carcinoma in Southeast Europe.
    • Fountzilas G, Psyrri A, Giannoulatou E, Tikas I, Manousou K, Rontogianni D, Ciuleanu E, Ciuleanu T, Resiga L, Zaramboukas T, Papadopoulou K, Bobos M, Chrisafi S, Tsolaki E, Markou K, Giotakis E, Koutras A, Psoma E, Kalogera-Fountzila A, Skondra M, Bamia C, Pectasides D, Kotoula V.
    • Int J Cancer. 2018 Jan 1;142(1):66-80. doi: 10.1002/ijc.31023. Epub 2017 Sep 30.
    • A frameshift mutation in BRCA1 leads to hereditary breast and ovarian cancer in one part of a family and to familial pancreatic cancer in another.
    • Gieldon L, Wagner J, Rump A.
    • Breast Cancer Res Treat. 2018 Jan;167(1):305-307. doi: 10.1007/s10549-017-4500-5. Epub 2017 Sep 12.
    • Letter, Case report
    • Phase II trial of veliparib in patients with previously treated BRCA-mutated pancreas ductal adenocarcinoma.
    • Lowery MA, Kelsen DP, Capanu M, Smith SC, Lee JW, Stadler ZK, Moore MJ, Kindler HL, Golan T, Segal A, Maynard H, Hollywood E, Moynahan M, Salo-Mullen EE, Do RKG, Chen AP, Yu KH, Tang LH, O'Reilly EM.
    • Eur J Cancer. 2018 Jan;89:19-26. doi: 10.1016/j.ejca.2017.11.004. Epub 2017 Dec 8.
    • The importance of a well-structured pancreatic screening program for familial and hereditary pancreatic cancer.
    • Vasen HFA.
    • Fam Cancer. 2018 Jan;17(1):1-3. doi: 10.1007/s10689-017-0066-y.

    Development of a high risk pancreatic screening clinic using 3.0 T MRI.

    • Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history.
    • Chaffee KG, Oberg AL, McWilliams RR, Majithia N, Allen BA, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Petersen GM.
    • Genet Med. 2018 Jan;20(1):119-127. doi: 10.1038/gim.2017.85. Epub 2017 Jul 20.
    • MULTIFOCAL CHOROIDAL MELANOMA IN A PATIENT WITH GERM LINE BRCA-ASSOCIATED PROTEIN 1 MUTATION.
    • Rao R, Pointdujour-Lim R, Ganguly A, Shields CL.
    • Retin Cases Brief Rep. 2018 Winter;12(1):1-4. doi: 10.1097/ICB.0000000000000432.
    • Case report
    • Targeting Defects in the Cellular DNA Damage Response for the Treatment of Pancreatic Ductal Adenocarcinoma.
    • Schmitt A, Feldmann G, Zander T, Reinhardt HC.
    • Oncol Res Treat. 2018;41(10):619-625. doi: 10.1159/000493401. Epub 2018 Sep 28.
    • Risk factors, biomarker and imaging techniques used for pancreatic cancer screening.
    • Thomas C.
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    • Genetic epidemiology of ovarian cancer and prospects for polygenic risk prediction.
    • Jones MR, Kamara D, Karlan BY, Pharoah PDP, Gayther SA.
    • Gynecol Oncol. 2017 Dec;147(3):705-713. doi: 10.1016/j.ygyno.2017.10.001. Epub 2017 Oct 18.
    • Review
    • Functional germline variants as potential co-oncogenes.
    • Agarwal D, Nowak C, Zhang NR, Pusztai L, Hatzis C.
    • NPJ Breast Cancer. 2017 Nov 22;3:46. doi: 10.1038/s41523-017-0051-5. eCollection 2017.
    • Familial pancreatic cancer asociated to germline mutation of BRCA2.
    • Sánchez Bermúdez AI, Marín Zafra G, Sarabia Meseguer MD.
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    • Letter, [Article in English, Spanish]
    • Familial Pancreatic Cancer and the Future of Directed Screening.
    • Welinsky S, Lucas AL.
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    • Excluding Lynch syndrome in a female patient with metachronous DNA mismatch repair deficient colon- and ovarian cancer.
    • Crobach S, Jansen AML, Ligtenberg MJL, Koopmans M, Nielsen M, Hes FJ, Wijnen JT, Dinjens WNM, van Wezel T, Morreau H.
    • Fam Cancer. 2017 Nov 9. doi: 10.1007/s10689-017-0055-1. [Epub ahead of print]
    • Familial Colorectal Cancer Type X (FCCTX) and the correlation with various genes-A systematic review.
    • Nejadtaghi M, Jafari H, Farrokhi E, Samani KG.
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    • Review
    • Germline Mutations in DNA Repair Genes in Lung Adenocarcinoma.
    • Parry EM, Gable DL, Stanley SE, Khalil SE, Antonescu V, Florea L, Armanios M.
    • J Thorac Oncol. 2017 Nov;12(11):1673-1678. doi: 10.1016/j.jtho.2017.08.011. Epub 2017 Aug 24.
    • Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma.
    • Shindo K, Yu J, Suenaga M, Fesharakizadeh S, Cho C, Macgregor-Das A, Siddiqui A, Witmer PD, Tamura K, Song TJ, Navarro Almario JA, Brant A, Borges M, Ford M, Barkley T, He J, Weiss MJ, Wolfgang CL, Roberts NJ, Hruban RH, Klein AP, Goggins M.
    • J Clin Oncol. 2017 Oct 20;35(30):3382-3390. doi: 10.1200/JCO.2017.72.3502. Epub 2017 Aug 2.

    Commentary:

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

    Commentary:

    Your Genes: Getting the Best Fit.

    • Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.
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    Letter, Comments:

    Frequency of Germline BRCA1/2 Mutations in Unselected Patients With Colorectal Cancer.

    Letter, Reply:

    Reply to M.S. Daniels et al.

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    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.