General / Overall Risk ~ Ovarian Cancer — Risk / Phenotype

List was last updated on Dec 1, 2019 @ 8:07 am.


    • 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.
    • Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).
    • Ruiz de Sabando A, Urrutia Lafuente E, García-Amigot F, Alonso Sánchez A, Morales Garofalo L, Moreno S, Ardanaz E, Ramos-Arroyo MA.
    • BMC Cancer. 2019 Nov 27;19(1):1145. doi: 10.1186/s12885-019-6277-x.
    • 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
    • Clinicopathological features of women with epithelial ovarian cancer and double heterozygosity for BRCA1 and BRCA2: A systematic review and case report analysis.
    • Le Page C, Rahimi K, Rodrigues M, Heinzelmann-Schwarz V, Recio N, Tommasi S, Bataillon G, Portelance L, Golmard L, Meunier L, Tonin PN, Gotlieb W, Yasmeen A, Ray-Coquard I, Labidi-Galy SI, Provencher D, Mes-Masson AM.
    • Gynecol Oncol. 2019 Nov 18. pii: S0090-8258(19)31670-1. doi: 10.1016/j.ygyno.2019.11.019. [Epub ahead of print]
    • Incidence of germline BRCA1/2 mutations in women with tubo-ovarian high-grade serous carcinomas with and without serous tubal intra-epithelial carcinomas.
    • Dowson CB, Stewart C, O'Sullivan S, Pachter N, Schofield L, Cohen PA.
    • Int J Gynecol Cancer. 2019 Nov 7. pii: ijgc-2019-000540. doi: 10.1136/ijgc-2019-000540. [Epub ahead of print]
    • 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.
    • 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.
    • A comparison of ovarian cancer mortality in women with BRCA1 mutations undergoing annual ultrasound screening or preventive oophorectomy.
    • Gronwald J, Lubinski J, Huzarski T, Cybulski C, Menkiszak J, Siołek M, Stawicka M, Sun P, Kim S, Kotsopoulos J, Narod SA.
    • Gynecol Oncol. 2019 Sep 6. pii: S0090-8258(19)31486-6. doi: 10.1016/j.ygyno.2019.08.034. [Epub ahead of print]
    • Epigenetic Risk Assessment of Female Cancers: Women's Information Needs and Attitudes.
    • Rebitschek FG, Reisel D, Lein I, Wegwarth O.
    • Public Health Genomics. 2019 Sep 4;22(1-2):46-57. doi: 10.1159/000501975. [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.
    • Prevalence and founder effect of the BRCA1 p.(Val1833Met) variant in the Greek population, with further evidence for pathogenicity and risk modification.
    • Papamentzelopoulou M, Apostolou P, Fostira F, Dimitrakakis C, Loutradis D, Fountzilas G, Yannoukakos D, Konstantopoulou I.
    • Cancer Genet. 2019 Sep;237:90-96. doi: 10.1016/j.cancergen.2019.06.006. Epub 2019 Jun 12.
    • DNA Damage and Hormone Related Cancer: a repair pathway view.
    • Pooley KA, Dunning AM.
    • Hum Mol Genet. 2019 Aug 22. pii: ddz206. doi: 10.1093/hmg/ddz206. [Epub ahead of print]
    • Review
    • 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.
    • 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.
    • The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients.
    • Bernstein-Molho R, Barnes-Kedar I, Ludman MD, Reznik G, Feldman HB, Samra NN, Eilat A, Peretz T, Peretz LP, Shapira T, Magal N, Kalis ML, Yerushalmi R, Vinkler C, Liberman S, Basel-Salmon L, Shohat M, Levy-Lahad E, Friedman E, Bazak L, Goldberg Y.
    • Breast Cancer Res Treat. 2019 Jul 31. doi: 10.1007/s10549-019-05379-6. [Epub ahead of print]
    • The role of BRCA1/2 in hereditary and familial breast and ovarian cancers.
    • Hawsawi YM, Al-Numair NS, Sobahy TM, Al-Ajmi AM, Al-Harbi RM, Baghdadi MA, Oyouni AA, Alamer OM.
    • Mol Genet Genomic Med. 2019 Jul 17:e879. doi: 10.1002/mgg3.879. [Epub ahead of print]
    • BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.
    • Concolino P, Gelli G, Rizza R, Costella A, Scambia G, Capoluongo E.
    • Int J Mol Sci. 2019 Jul 12;20(14). pii: E3442. doi: 10.3390/ijms20143442.
    • Association between the cervicovaginal microbiome, BRCA1 mutation status, and risk of ovarian cancer: a case-control study.
    • Nené NR, Reisel D, Leimbach A, Franchi D, Jones A, Evans I, Knapp S, Ryan A, Ghazali S, Timms JF, Paprotka T, Bjørge L, Zikan M, Cibula D, Colombo N, Widschwendter M.
    • Lancet Oncol. 2019 Jul 9. pii: S1470-2045(19)30340-7. doi: 10.1016/S1470-2045(19)30340-7. [Epub ahead of print]

    Commentary:

    Of microbes and women: BRCA1, vaginal microbiota, and ovarian cancer.

    • 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.
    • Ovarian cancer risk factors by tumor aggressiveness: An analysis from the Ovarian Cancer Cohort Consortium.
    • Fortner RT, Poole EM, Wentzensen NA, Trabert B, White E, Arslan AA, Patel AV, Setiawan VW, Visvanathan K, Weiderpass E, Adami HO, Black A, Bernstein L, Brinton LA, Buring J, Clendenen TV, Fournier A, Fraser G, Gapstur SM, Gaudet MM, Giles GG, Gram IT, Hartge P, Hoffman-Bolton J, Idahl A, Kaaks R, Kirsh VA, Knutsen S, Koh WP, Lacey JV Jr, Lee IM, Lundin E, Merritt MA, Milne RL, Onland-Moret NC, Peters U, Poynter JN, Rinaldi S, Robien K, Rohan T, Sánchez MJ, Schairer C, Schouten LJ, Tjonneland A, Townsend MK, Travis RC, Trichopoulou A, van den Brandt PA, Vineis P, Wilkens L, Wolk A, Yang HP, Zeleniuch-Jacquotte A, Tworoger SS.
    • Int J Cancer. 2019 Jul 1;145(1):58-69. doi: 10.1002/ijc.32075. Epub 2019 Jan 14.
    • Clinical and Genetic Characteristics of BRCA1/2 Mutation in Korean Ovarian Cancer Patients: A Multicenter Study and Literature Review.
    • Kwon BS, Byun JM, Lee HJ, Jeong DH, Lee TH, Shin KH, Suh DS, Kim KH.
    • Cancer Res Treat. 2019 Jul;51(3):941-950. doi: 10.4143/crt.2018.312. Epub 2018 Oct 8.
    • Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan.
    • Rashid MU, Khan FA, Muhammad N, Loya A, Hamann U.
    • Cancer Res Treat. 2019 Jul;51(3):992-1000. doi: 10.4143/crt.2018.356. Epub 2018 Oct 11.
    • 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.
    • Low Prevalence of the Four Common Colombian Founder Mutations in BRCA1 and BRCA2 in Early-Onset and Familial Afro-Colombian Patients with Breast Cancer.
    • Vargas E, Torres Lopez DM, de Deugd R, Gil F, Nova A, Mora L, Viaña LF, Hernandez JD, Bruges R, Hamann U.
    • Oncologist. 2019 Jul;24(7):e475-e479. doi: 10.1634/theoncologist.2018-0346. Epub 2018 Dec 12.
    • Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.
    • Qian F, Rookus MA, Leslie G, Risch HA, Greene MH, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arnold N, Arun BK, Ausems MGEM, Azzollini J, Barrowdale D, Barwell J, Benitez J, Białkowska K, Bonadona V, Borde J, Borg A, Bradbury AR, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Carter J, Chiquette J, Chung WK, Claes KBM, Collée JM, Collonge-Rame MA, Couch FJ, Daly MB, Delnatte C, Diez O, Domchek SM, Dorfling CM, Eason J, Easton DF, Eeles R, Engel C, Evans DG, Faivre L, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Gehrig A, Glendon G, Godwin AK, Gómez Garcia EB, Hamann U, Hauke J, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jakubowska A, Janavicius R, John EM, Karlan BY, Kets CM, Laitman Y, Lázaro C, Leroux D, Lester J, Lesueur F, Loud JT, Lubiński J, Łukomska A, McGuffog L, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Mouret-Fourme E, Nathanson KL, Nehoray B, Neuhausen SL, Nevanlinna H, Nielsen FC, Offit K, Olah E, Ong KR, Oosterwijk JC, Ottini L, Parsons MT, Peterlongo P, Pfeiler G, Pradhan N, Radice P, Ramus SJ, Rantala J, Rennert G, Robson M, Rodriguez GC, Salani R, Scheuner MT, Schmutzler RK, Shah PD, Side LE, Simard J, Singer CF, Steinemann D, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Terry MB, Thomassen M, Tischkowitz M, Tognazzo S, Toland AE, Tung N, van Asperen CJ, van Engelen K, van Rensburg EJ, Venat-Bouvet L, Vierstraete J, Wagner G, Walker L, Weitzel JN, Yannoukakos D; KConFab Investigators; HEBON Investigators; GEMO Study Collaborators; EMBRACE Collaborators, Antoniou AC, Goldgar DE, Olopade OI, Chenevix-Trench G, Rebbeck TR, Huo D; CIMBA.
    • Br J Cancer. 2019 Jun 19. doi: 10.1038/s41416-019-0492-8. [Epub ahead of print]
    • BRCA germline mutation test for all woman with ovarian cancer?
    • Paradiso AV, Digennaro M, Patruno M, De Summa S, Tommasi S, Berindan-Neagoe I.
    • BMC Cancer. 2019 Jun 28;19(1):641. doi: 10.1186/s12885-019-5829-4.
    • Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso.
    • Sagna T, Bonora E, Ouedraogo MNL, Fusco D, Zoure AA, Bisseye C, Djigma F, Kafando JG, Zongo N, Douamba Z, Obiri-Yeboah D, Turchetti D, Pietra V, Lompo OM, Ouedraogo C, Seri M, Simpore J.
    • Biomol Concepts. 2019 Jun 11;10(1):120-127. doi: 10.1515/bmc-2019-0015.
    • Differential Profile of BRCA1 vs. BRCA2 Mutated Families: A Characterization of the Main Differences and Similarities in Patients.
    • Fernandes GC, Felicio PS, Michelli RAD, Coelho AS, Scapulatempo-Neto C, Palmero EI.
    • Asian Pac J Cancer Prev. 2019 Jun 1;20(6):1655-1660. doi: 10.31557/APJCP.2019.20.6.1655.
    • [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.
    • Increased risk of brain metastases in ovarian cancer patients with BRCA mutations.
    • Ratner E, Bala M, Louie-Gao M, Aydin E, Hazard S, Brastianos PK.
    • Gynecol Oncol. 2019 Jun;153(3):568-573. doi: 10.1016/j.ygyno.2019.03.004. Epub 2019 Mar 12.
    • Hereditary Cancer Syndromes-A Primer on Diagnosis and Management: Part 1: Breast-Ovarian Cancer Syndromes.
    • Samadder NJ, Giridhar KV, Baffy N, Riegert-Johnson D, Couch FJ.
    • Mayo Clin Proc. 2019 Jun;94(6):1084-1098. doi: 10.1016/j.mayocp.2019.02.017.
    • Clinical characteristics and outcomes in elderly women with BRCA1 and BRCA2 mutations.
    • Salyer C, Kobelka C, Barrie A, Weintraub MR, Powell CB.
    • Gynecol Oncol. 2019 May 31. pii: S0090-8258(19)31261-2. doi: 10.1016/j.ygyno.2019.05.017. [Epub ahead of print]
    • Epithelial ovarian cancer risk: a review of the current genetic landscape.
    • Flaum N, Crosbie EJ, Edmondson RJ, Smith MJ, Evans DG.
    • Clin Genet. 2019 May 16. doi: 10.1111/cge.13566. [Epub ahead of print]
    • Review
    • Effect of BRCA mutational status on survival outcome in advanced-stage high-grade serous ovarian cancer.
    • Kim SI, Lee M, Kim HS, Chung HH, Kim JW, Park NH, Song YS.
    • J Ovarian Res. 2019 May 7;12(1):40. doi: 10.1186/s13048-019-0511-7.
    • Hereditary ovarian cancers: state of the art.
    • Toss A, Molinaro E, Sammarini M, Del Savio MC, Cortesi L, Facchinetti F, Grandi G.
    • Minerva Med. 2019 May 6. doi: 10.23736/S0026-4806.19.06091-9. [Epub ahead of print]
    • Review
    • Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.
    • Kleiblova P, Stolarova L, Krizova K, Lhota F, Hojny J, Zemankova P, Havranek O, Vocka M, Cerna M, Lhotova K, Borecka M, Janatova M, Soukupova J, Sevcik J, Zimovjanova M, Kotlas J, Panczak A, Vesela K, Cervenkova J, Schneiderova M, Burocziova M, Burdova K, Stranecky V, Foretova L, Machackova E, Tavandzis S, Kmoch S, Macurek L, Kleibl Z.
    • Int J Cancer. 2019 May 3. doi: 10.1002/ijc.32385. [Epub ahead of print]
    • Clinical and molecular characterization of ovarian carcinoma displaying isolated lymph node relapse.
    • Hollis RL, Carmichael J, Meynert AM, Churchman M, Hallas-Potts A, Rye T, Mackean M, Nussey F, Semple CA, Herrington CS, Gourley C.
    • Am J Obstet Gynecol. 2019 May 2. pii: S0002-9378(19)30620-9. doi: 10.1016/j.ajog.2019.04.035. [Epub ahead of print]
    • Fifteen-year survival of invasive epithelial ovarian cancer in women with BRCA1/2 mutations - the National Israeli Study of Ovarian Cancer.
    • Lavie O, Chetrit A, Novikov I, Sadetzki S; National Israeli Study of Ovarian Cancer.
    • Gynecol Oncol. 2019 May;153(2):320-325. doi: 10.1016/j.ygyno.2019.02.022. Epub 2019 Mar 11.
    • Retrospective study of a 16 year cohort of BRCA1 and BRCA2 carriers presenting for RRSO: Prevalence of invasive and in-situ carcinoma, with follow-up.
    • Blok F, Dasgupta S, Dinjens WNM, Roes EM, van Beekhuizen HJ, Ewing-Graham PC.
    • Gynecol Oncol. 2019 May;153(2):326-334. doi: 10.1016/j.ygyno.2019.03.003. Epub 2019 Mar 18.
    • Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases.
    • Morgan RD, Burghel GJ, Flaum N, Bulman M, Clamp AR, Hasan J, Mitchell CL, Schlecht H, Woodward ER, Lallo FI, Crosbie EJ, Edmondson RJ, Wallace AJ, Jayson GC, Evans DGR.
    • J Med Genet. 2019 May;56(5):301-307. doi: 10.1136/jmedgenet-2018-105792. Epub 2019 Jan 25.
    • A common SNP in the UNG gene decreases ovarian cancer risk in BRCA2 mutation carriers.
    • Baquero JM, Benítez-Buelga C, Fernández V, Urioste M, García-Giménez JL, Perona R; CIMBA Consortium, Benítez J, Osorio A.
    • Mol Oncol. 2019 May;13(5):1110-1120. doi: 10.1002/1878-0261.12470. Epub 2019 Mar 1.
    • Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
    • Weber-Lassalle N, Borde J, Weber-Lassalle K, Horváth J, Niederacher D, Arnold N, Kaulfuß S, Ernst C, Paul VG, Honisch E, Klaschik K, Volk AE, Kubisch C, Rapp S, Lichey N, Altmüller J, Lepkes L, Pohl-Rescigno E, Thiele H, Nürnberg P, Larsen M, Richters L, Rhiem K, Wappenschmidt B, Engel C, Meindl A, Schmutzler RK, Hahnen E, Hauke J.
    • Breast Cancer Res. 2019 Apr 29;21(1):55. doi: 10.1186/s13058-019-1137-9.
    • Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients.
    • Deng H, Chen M, Guo X, Heng J, Xu X, Peng L, Jiang H, Li G, Day JX, Li J, Shan D, Li Y, Zhou Y, Liu B, Dai L, Wang X, Wang J.
    • Mol Genet Genomic Med. 2019 Apr 10:e672. doi: 10.1002/mgg3.672. [Epub ahead of print]
    • Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients.
    • Kurian AW, Ward KC, Howlader N, Deapen D, Hamilton AS, Mariotto A, Miller D, Penberthy LS, Katz SJ.
    • J Clin Oncol. 2019 Apr 9:JCO1801854. doi: 10.1200/JCO.18.01854. [Epub ahead of print]

    Press: Genetic Testing Under-Utilized in Ovarian Cancer. (Medscape Oncology)

    • Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high-risk breast cancer.
    • Wang X, Liu H, Maimaitiaili A, Zhao G, Li S, Lv Z, Wu D, Shi A, Guan X, Jia H, Li M, Song D, Kang L, Han B, Fu T, Yang M, Zhu Z, Du Y, Song Y, Hong J, Fan Z.
    • Mol Genet Genomic Med. 2019 Apr 9:e677. doi: 10.1002/mgg3.677. [Epub ahead of print]
    • Direct Genetics Referral Pathway for High-Grade Serous Ovarian Cancer Patients: The "Opt-Out" Process.
    • McGee J, Peart TM, Foley N, Bertrand M, Prefontaine M, Sugimoto A, Ettler H, Welch S, Panabaker K.
    • J Oncol. 2019 Apr 2;2019:6029097. doi: 10.1155/2019/6029097. eCollection 2019.
    • Association between family history, mutation locations, and prevalence of BRCA1 or 2 mutations in ovarian cancer patients.
    • Singer CF, Tan YY, Muhr D, Rappaport C, Gschwantler-Kaulich D, Grimm C, Polterauer S, Pfeiler G, Berger A, Tea MM.
    • Cancer Med. 2019 Apr;8(4):1875-1881. doi: 10.1002/cam4.2000. Epub 2019 Mar 1.
    • Germline mutations in cancer susceptibility genes in high grade serous ovarian cancer in Serbia.
    • Krivokuca A, Boljevic I, Jovandic S, Magic Z, Mandic A, Tomasevic Z, Brankovic-Magic M.
    • J Hum Genet. 2019 Apr;64(4):281-290. doi: 10.1038/s10038-019-0562-z. Epub 2019 Jan 16.
    • Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.
    • Nurmi A, Muranen TA, Pelttari LM, Kiiski JI, Heikkinen T, Lehto S, Kallioniemi A, Schleutker J, Bützow R, Blomqvist C, Aittomäki K, Nevanlinna H.
    • Int J Cancer. 2019 Mar 30. doi: 10.1002/ijc.32309. [Epub ahead of print]
    • Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels.
    • Feliubadaló L, López-Fernández A, Pineda M, Díez O, Del Valle J, Gutiérrez-Enríquez S, Teulé A, González S, Stjepanovic N, Salinas M, Capellá G, Brunet J, Lázaro C, Balmaña J; Catalan Hereditary Cancer Group.
    • Int J Cancer. 2019 Mar 29. doi: 10.1002/ijc.32304. [Epub ahead of print]
    • Quick Uptakes: Taking the Uncertainty Out of Interpreting BRCA Variants.
    • Voelker R.
    • JAMA. 2019 Mar 20. doi: 10.1001/jama.2019.0967. [Epub ahead of print]

    Original research:

    BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.

    • Co-occurrence of Mayer-Rokitansky-Küster-Hauser syndrome and ovarian cancer: A case report and review of the literature.
    • Villa R, Azzollini J, Peissel B, Manoukian S.
    • Gynecol Oncol Rep. 2019 Mar 17;28:68-70. doi: 10.1016/j.gore.2019.03.010. eCollection 2019 May.
    • Selected features of breast and peritoneal cancers diagnosed in BRCA1 carriers after risk-reducing salpingo-oophorectomy.
    • Menkiszak J, Chudecka-Głaz A, Cymbaluk-Płoska A, Celewicz A, Kojs Z, Szajda M, Świniarska M, Bedner R, Jurczak A, Celewicz M, Cieszyńska M, Lubiński J, Gronwald J.
    • Hered Cancer Clin Pract. 2019 Mar 14;17:10. doi: 10.1186/s13053-019-0109-5. eCollection 2019.
    • Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world.
    • Ow SGW, Ong PY, Lee SC.
    • PLoS One. 2019 Mar 15;14(3):e0213746. doi: 10.1371/journal.pone.0213746. eCollection 2019.
    • Selected features of breast and peritoneal cancers diagnosed in BRCA1 carriers after risk-reducing salpingo-oophorectomy.
    • Menkiszak J, Chudecka-Głaz A, Cymbaluk-Płoska A, Celewicz A, Kojs Z, Szajda M, Świniarska M, Bedner R, Jurczak A, Celewicz M, Cieszyńska M, Lubiński J, Gronwald J.
    • Hered Cancer Clin Pract. 2019 Mar 14;17:10. doi: 10.1186/s13053-019-0109-5. eCollection 2019.
    • Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.
    • Lin PC, Yeh YM, Wu PY, Hsu KF, Chang JY, Shen MR.
    • Sci Rep. 2019 Mar 8;9(1):3931. doi: 10.1038/s41598-019-40571-0.
    • Novel loss-of-function mutation in BRCA2 gene identified in a Chinese female with a family history of ovarian cancer: A case report.
    • Cui Y, Wang Y, Zhang N, He J, Huang H, Liu F, Wei S, Dong Q, Wu J, Lin K, Chen W, Xiang J, Jin H, Peng Z, Zhao Q, Li W, Jiang D, Banerjee S.
    • Oncol Lett. 2019 Mar;17(3):3350-3354. doi: 10.3892/ol.2019.9950. Epub 2019 Jan 21.
    • High-Grade Serous Ovarian Cancer: Basic Sciences, Clinical and Therapeutic Standpoints.
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    • Genetic epidemiology of ovarian cancer in the 22 Arab countries: A systematic review.
    • Younes N, Zayed H.
    • Gene. 2019 Feb 5;684:154-164. doi: 10.1016/j.gene.2018.10.044. Epub 2018 Oct 22.
    • Review
    • Genetic Data from Nearly 63,000 Women of European Descent Predicts DNA Methylation Biomarkers and Epithelial Ovarian Cancer Risk.
    • Yang Y, Wu L, Shu X, Lu Y, Shu XO, Cai Q, Beeghly-Fadiel A, Li B, Ye F, Berchuck A, Anton-Culver H, Banerjee S, Benitez J, Bjørge L, Brenton JD, Butzow R, Campbell IG, Chang-Claude J, Chen K, Cook LS, Cramer DW, deFazio A, Dennis J, Doherty JA, Dörk T, Eccles DM, Edwards DV, Fasching PA, Fortner RT, Gayther SA, Giles GG, Glasspool RM, Goode EL, Goodman MT, Gronwald J, Harris HR, Heitz F, Hildebrandt MA, Høgdall E, Høgdall CK, Huntsman DG, Kar SP, Karlan BY, Kelemen LE, Kiemeney LA, Kjaer SK, Koushik A, Lambrechts D, Le ND, Levine DA, Massuger LF, Matsuo K, May T, McNeish IA, Menon U, Modugno F, Monteiro AN, Moorman PG, Moysich KB, Ness RB, Nevanlinna H, Olsson H, Onland-Moret NC, Park SK, Paul J, Pearce CL, Pejovic T, Phelan CM, Pike MC, Ramus SJ, Riboli E, Rodriguez-Antona C, Romieu I, Sandler DP, Schildkraut JM, Setiawan VW, Shan K, Siddiqui N, Sieh W, Stampfer MJ, Sutphen R, Swerdlow AJ, Szafron LM, Teo SH, Tworoger SS, Tyrer JP, Webb PM, Wentzensen N, White E, Willett WC, Wolk A, Woo YL, Wu AH, Yan L, Yannoukakos D, Chenevix-Trench G, Sellers TA, Pharoah PDP, Zheng W, Long J.
    • Cancer Res. 2019 Feb 1;79(3):505-517. doi: 10.1158/0008-5472.CAN-18-2726. Epub 2018 Dec 17.
    • Selected medical interventions in women with a deleterious BRCA mutation: a population-based study in British Columbia.
    • Hanley GE, McAlpine JN, Cheifetz R, Schrader KA, McCullum M, Huntsman D.
    • Curr Oncol. 2019 Feb;26(1):e17-e23. doi: 10.3747/co.26.4068. Epub 2019 Feb 1.
    • Synchronous endometrioid endometrial and ovarian carcinomas are biologically related: A clinico-pathological and molecular (next generation sequencing) study of 22 cases.
    • Hájková N, Tichá I, Hojný J, Němejcová K, Bártů M, Michálková R, Zikán M, Cibula D, Laco J, Geryk T, Méhes G, Dundr P.
    • Oncol Lett. 2019 Feb;17(2):2207-2214. doi: 10.3892/ol.2018.9855. Epub 2018 Dec 20.
    • Causes for Frequent Pathogenic BRCA1 Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift.
    • Møller P, Dominguez-Valentin M, Rødland EA, Hovig E.
    • Cancers (Basel). 2019 Jan 23;11(2). pii: E132. doi: 10.3390/cancers11020132.
    • Synchronous Ovarian and Breast Cancers with a Novel Variant in BRCA2 Gene: A Case Report.
    • Llinás-Quintero N, Cabrera-Florez E, Mendoza-Fandiño G, Matute-Turizo G, Vasquez-Trespalacios EM, Gallón-Villegas LJ.
    • Case Rep Oncol Med. 2019 Jan 6;2019:6958952. doi: 10.1155/2019/6958952. eCollection 2019.
    • Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil.
    • Cotrim DP, Ribeiro ARG, Paixão D, de Queiroz Soares DC, Jbili R, Pandolfi NC, Cezana C, de Cássia Mauro C, Mantoan H, Bovolim G, de Brot L, Torrezan GT, Carraro DM, Baiocchi G, da Cruz Formiga MN, da Costa AABA.
    • BMC Cancer. 2019 Jan 3;19(1):4. doi: 10.1186/s12885-018-5235-3.
    • The association between non-breast and ovary cancers and BRCA mutation in first- and second-degree relatives of high-risk breast cancer patients: a large-scale study of Koreans.
    • Kim H, Choi DH, Park W, Im YH, Ahn JS, Park YH, Nam SJ, Kim SW, Lee JE, Yu JH, Lee SK, Jung BY.
    • Hered Cancer Clin Pract. 2019 Jan 3;17:1. doi: 10.1186/s13053-018-0103-3. eCollection 2019.
    • Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
    • Lu HM, Li S, Black MH, Lee S, Hoiness R, Wu S, Mu W, Huether R, Chen J, Sridhar S, Tian Y, McFarland R, Dolinsky J, Tippin Davis B, Mexal S, Dunlop C, Elliott A.
    • JAMA Oncol. 2019 Jan 1;5(1):51-57. doi: 10.1001/jamaoncol.2018.2956.

    Commentary:

    Hereditary Breast and Ovarian Cancer Testing in the Genomic Era.

    Letter:

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

    Letter:

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

    Letter:

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

    Letter, Reply:

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

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

    Original research:

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

    Letter, Comment:

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

    Letter, Comment:

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

    Letter, Reply:

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

    • Somatic mutations in BRCA1&2 in 201 unselected ovarian carcinoma samples - single institution study.
    • Kowalik A, Zalewski K, Kopczyński J, Siołek M, Lech M, Hińcza K, Kalisz J, Chrapek M, Zięba S, Furmańczyk J, Jedliński M, Chłopek M, Misiek M, Góźdź S.
    • Pol J Pathol. 2019;70(2):115-126. doi: 10.5114/pjp.2019.82905.
    • BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
    • Cline MS, Liao RG, Parsons MT, Paten B, Alquaddoomi F, Antoniou A, Baxter S, Brody L, Cook-Deegan R, Coffin A, Couch FJ, Craft B, Currie R, Dlott CC, Dolman L, den Dunnen JT, Dyke SOM, Domchek SM, Easton D, Fischmann Z, Foulkes WD, Garber J, Goldgar D, Goldman MJ, Goodhand P, Harrison S, Haussler D, Kato K, Knoppers B, Markello C, Nussbaum R, Offit K, Plon SE, Rashbass J, Rehm HL, Robson M, Rubinstein WS, Stoppa-Lyonnet D, Tavtigian S, Thorogood A, Zhang C, Zimmermann M; BRCA Challenge Authors, Burn J, Chanock S, Rätsch G, Spurdle AB.
    • PLoS Genet. 2018 Dec 26;14(12):e1007752. doi: 10.1371/journal.pgen.1007752. [Epub ahead of print]
    • Distinct Clinical Courses of Epithelial Ovarian Cancer with Mutations in BRCA1 5' and 3' Exons.
    • Eoh KJ, Park HS, Park JS, Lee ST, Han JW, Lee JY, Kim S, Kim SW, Kim YT, Nam EJ.
    • Anticancer Res. 2018 Dec;38(12):6947-6953. doi: 10.21873/anticanres.13073.
    • Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families.
    • Castéra L, Harter V, Muller E, Krieger S, Goardon N, Ricou A, Rousselin A, Paimparay G, Legros A, Bruet O, Quesnelle C, Domin F, San C, Brault B, Fouillet R, Abadie C, Béra O, Berthet P; French Exome Project Consortium, Frébourg T, Vaur D.
    • Genet Med. 2018 Dec;20(12):1677-1686. doi: 10.1038/s41436-018-0005-9. Epub 2018 Jul 10.
    • Germline pathogenic variants identified in women with ovarian tumors.
    • Carter NJ, Marshall ML, Susswein LR, Zorn KK, Hiraki S, Arvai KJ, Torene RI, McGill AK, Yackowski L, Murphy PD, Xu Z, Solomon BD, Klein RT, Hruska KS.
    • Gynecol Oncol. 2018 Dec;151(3):481-488. doi: 10.1016/j.ygyno.2018.09.030. Epub 2018 Oct 12.
    • Germline BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance associated with breast/ovarian cancer: a report from North India.
    • Mehta A, Vasudevan S, Sharma SK, Kumar D, Panigrahi M, Suryavanshi M, Gupta G.
    • Cancer Manag Res. 2018 Nov 30;10:6505-6516. doi: 10.2147/CMAR.S186563. eCollection 2018.
    • Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.
    • Koczkowska M, Krawczynska N, Stukan M, Kuzniacka A, Brozek I, Sniadecki M, Debniak J, Wydra D, Biernat W, Kozlowski P, Limon J, Wasag B, Ratajska M.
    • Cancers (Basel). 2018 Nov 14;10(11). pii: E442. doi: 10.3390/cancers10110442.
    • BRCA Mutation Status to Personalize Management of Recurrent Ovarian Cancer: A Multicenter Study.
    • Marchetti C, De Leo R, Musella A, D'Indinosante M, Capoluongo E, Minucci A, Benedetti Panici P, Scambia G, Fagotti A.
    • Ann Surg Oncol. 2018 Nov;25(12):3701-3708. doi: 10.1245/s10434-018-6700-6. Epub 2018 Aug 20.

    Commentary:

    ASO Author Reflections: BRCA Mutation Status for Personalizing Management of Recurrent Ovarian Cancer-A Multicenter Study.

    • The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations.
    • Barnes-Kedar I, Bernstein-Molho R, Ginzach N, Hartmajer S, Shapira T, Magal N, Kalis ML, Peretz T, Shohat M, Basel-Salmon L, Friedman E, Bazak L, Goldberg Y.
    • Breast Cancer Res Treat. 2018 Nov;172(1):151-157. doi: 10.1007/s10549-018-4887-7. Epub 2018 Jul 16.
    • BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea.
    • Kim DH, Cho CH, Kwon SY, Ryoo NH, Jeon DS, Lee W, Ha JS.
    • J Gynecol Oncol. 2018 Nov;29(6):e90. doi: 10.3802/jgo.2018.29.e90.
    • Survival of Women With Type I and II Epithelial Ovarian Cancer Detected by Ultrasound Screening.
    • van Nagell JR Jr, Burgess BT, Miller RW, Baldwin L, DeSimone CP, Ueland FR, Huang B, Chen Q, Kryscio RJ, Pavlik EJ.
    • Obstet Gynecol. 2018 Nov;132(5):1091-1100. doi: 10.1097/AOG.0000000000002921.

    Editorial, Research news:

    Ultrasound Screening for Ovarian Cancer: Are We There Yet?

    • GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.
    • Lesueur F, Mebirouk N, Jiao Y, Barjhoux L, Belotti M, Laurent M, Léone M, Houdayer C, Bressac-de Paillerets B, Vaur D, Sobol H, Noguès C, Longy M, Mortemousque I, Fert-Ferrer S, Mouret-Fourme E, Pujol P, Venat-Bouvet L, Bignon YJ, Leroux D, Coupier I, Berthet P, Mari V, Delnatte C, Gesta P, Collonge-Rame MA, Giraud S, Bonadona V, Baurand A, Faivre L, Buecher B, Lasset C, Gauthier-Villars M, Damiola F, Mazoyer S, Caputo SM, Andrieu N, Stoppa-Lyonnet D; GEMO Study Collaborators.
    • Front Oncol. 2018 Oct 31;8:490. doi: 10.3389/fonc.2018.00490. eCollection 2018.
    • Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing.
    • Slavin TP, Banks KC, Chudova D, Oxnard GR, Odegaard JI, Nagy RJ, Tsang KWK, Neuhausen SL, Gray SW, Cristofanilli M, Rodriguez AA, Bardia A, Leyland-Jones B, Janicek MF, Lilly M, Sonpavde G, Lee CE, Lanman RB, Meric-Bernstam F, Kurzrock R, Weitzel JN.
    • J Clin Oncol. 2018 Oct 19:JCO1800328. doi: 10.1200/JCO.18.00328. [Epub ahead of print]
    • Familial risks of second primary cancers and mortality in ovarian cancer patients.
    • Zheng G, Chattopadhyay S, Försti A, Sundquist K, Hemminki K.
    • Clin Epidemiol. 2018 Oct 11;10:1457-1466. doi: 10.2147/CLEP.S174173. eCollection 2018.
    • Familial risks of ovarian cancer by age at diagnosis, proband type and histology.
    • Zheng G, Yu H, Kanerva A, Försti A, Sundquist K, Hemminki K.
    • PLoS One. 2018 Oct 3;13(10):e0205000. doi: 10.1371/journal.pone.0205000. eCollection 2018.
    • Comparison of gynecologic cancer risk factors, incidence and mortality trends between South Korea and Israel, 1999-2013.
    • Michaan N, Park SY, Won YJ, Lim MC.
    • Jpn J Clin Oncol. 2018 Oct 1;48(10):884-891. doi: 10.1093/jjco/hyy111.
    • 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.
    • Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.
    • Quezada Urban R, Díaz Velásquez CE, Gitler R, Rojo Castillo MP, Sirota Toporek M, Figueroa Morales A, Moreno García O, García Esquivel L, Torres Mejía G, Dean M, Delgado Enciso I, Ochoa Díaz López H, Rodríguez León F, Jan V, Garzón Barrientos VH, Ruiz Flores P, Espino Silva PK, Haro Santa Cruz J, Martínez Gregorio H, Rojas Jiménez EA, Romero Cruz LE, Méndez Catalá CF, Álvarez Gómez RM, Fragoso Ontiveros V, Herrera LA, Romieu I, Terrazas LI, Chirino YI, Frecha C, Oliver J, Perdomo S, Vaca Paniagua F.
    • Cancers (Basel). 2018 Sep 27;10(10). pii: E361. doi: 10.3390/cancers10100361.
    • Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
    • Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Heather Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF.
    • JAMA Netw Open. 2018 Sep 21;1(5): e182140. doi: 10.1001/jamanetworkopen.2018.2140.

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

    • Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
    • Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF.
    • JAMA Netw Open. 2018 Sep 7;1(5):e182140. doi: 10.1001/jamanetworkopen.2018.2140.
    • Real-world health services utilisation and outcomes after BRCA1 and BRCA2 testing in Ontario, Canada: the What Comes Next Cohort Study protocol.
    • Dossa F, Cusimano MC, Sutradhar R, Metcalfe K, Little T, Lerner-Ellis J, Eisen A, Meschino WS, Baxter NN.
    • BMJ Open. 2018 Sep 4;8(9):e025317. doi: 10.1136/bmjopen-2018-025317.
    • A new pathogenic mutation of the BRCA1 gene in a patient with ovarian cancer: A case report.
    • Yizhen N, Kemin L, Qingli L, Danqing W, Rutie Y, Liang S.
    • Medicine (Baltimore). 2018 Sep;97(38):e12371. doi: 10.1097/MD.0000000000012371.
    • Homologous recombination deficiency in ovarian cancer: a review of its epidemiology and management.
    • da Cunha Colombo Bonadio RR, Fogace RN, Miranda VC, Diz MDPE.
    • Clinics (Sao Paulo). 2018 Aug 20;73(suppl 1):e450s. doi: 10.6061/clinics/2018/e450s.
    • Second primary cancer after primary peritoneal, epithelial ovarian, and fallopian tubal cancer: a retrospective study.
    • Lim MC, Won YJ, Lim J, Salehi T, Yoo CW, Bristow RE.
    • BMC Cancer. 2018 Aug 8;18(1):800. doi: 10.1186/s12885-018-4700-3.
    • 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]
    • Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2.
    • Narod S, Sopik V, Cybulski C.
    • JAMA Oncol. 2018 Jul 1;4(7):1012. doi: 10.1001/jamaoncol.2018.0595.
    • Letter

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

    Letter, Reply:

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

    • Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations.
    • Singh J, Thota N, Singh S, Padhi S, Mohan P, Deshwal S, Sur S, Ghosh M, Agarwal A, Sarin R, Ahmed R, Almel S, Chakraborti B, Raina V, DadiReddy PK, Smruti BK, Rajappa S, Dodagoudar C, Aggarwal S, Singhal M, Joshi A, Kumar R, Kumar A, Mishra DK, Arora N, Karaba A, Sankaran S, Katragadda S, Ghosh A, Veeramachaneni V, Hariharan R, Mannan AU.
    • Breast Cancer Res Treat. 2018 Jul;170(1):189-196. doi: 10.1007/s10549-018-4726-x. Epub 2018 Feb 22.
    • Uptake of risk-reducing surgery in BRCA gene carriers in Wales, UK.
    • Long J, Evans TG, Bailey D, Lewis MH, Gower-Thomas K, Murray A.
    • Breast J. 2018 Jul;24(4):580-585. doi: 10.1111/tbj.12978. Epub 2017 Dec 29.
    • Age-specific ovarian cancer risks among women with a BRCA1 or BRCA2 mutation.
    • Kotsopoulos J, Gronwald J, Karlan B, Rosen B, Huzarski T, Moller P, Lynch HT, Singer CF, Senter L, Neuhausen SL, Tung N, Eisen A, Foulkes WD, Ainsworth P, Sun P, Lubinski J, Narod SA; Hereditary Ovarian Cancer Clinical Study Group.
    • Gynecol Oncol. 2018 Jul;150(1):85-91. doi: 10.1016/j.ygyno.2018.05.011. Epub 2018 May 21.
    • Hereditary breast and ovarian cancer in Andalusian families: a genetic population study.
    • Pajares B, Porta J, Porta JM, Sousa CF, Moreno I, Porta D, Durán G, Vega T, Ortiz I, Muriel C, Alba E, Márquez A.
    • BMC Cancer. 2018 Jun 8;18(1):647. doi: 10.1186/s12885-018-4537-9.
    • XRAYS Follow Up: Does expanded genetic testing benefit Jewish women with breast cancer?
    • [No author given]
    • FORCE. XRAYS. 2018 Jun 7.

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

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

    • The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?
    • Teixeira N, van der Hout A, Oosterwijk JC, Vos JR; HEBON, Devilee P, van Engelen K, Meijers-Heijboer H, van der Luijt RB, Kriege M, Mensenkamp AR, Rookus MA, van Roozendaal KE, Mourits MJE, de Bock GH.
    • Eur J Hum Genet. 2018 Jun;26(6):848-857. doi: 10.1038/s41431-018-0111-9. Epub 2018 Feb 26.
    • Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.
    • Seo A, Steinberg-Shemer O, Unal S, Casadei S, Walsh T, Gumruk F, Shalev S, Shimamura A, Akarsu NA, Tamary H3, King MC.
    • Proc Natl Acad Sci U S A. 2018 May 15;115(20):5241-5246. doi: 10.1073/pnas.1801796115. Epub 2018 Apr 30.
    • Accuracy of self-reported family history of cancer, mutation status and tumor characteristics in patients with early onset breast cancer.
    • Augustinsson A, Ellberg C, Kristoffersson U, Borg Å, Olsson H.
    • Acta Oncol. 2018 May;57(5):595-603. doi: 10.1080/0284186X.2017.1404635. Epub 2017 Nov 22.
    • Clinical study of hereditary ovarian cancer syndrome in Shandong province, East China.
    • Sheng X, Zhong Y, Lu C, Peng J, Yu H, Guo J.
    • Int J Gynaecol Obstet. 2018 May;141(2):234-239. doi: 10.1002/ijgo.12447. Epub 2018 Feb 14.
    • Evaluation of the relative effectiveness of the 2017 updated Manchester scoring system for predicting BRCA1/2 mutations in a Southeast Asian country.
    • Chew W, Moorakonda RB, Courtney E, Soh H, Li ST, Chen Y, Shaw T, Allen JC, Evans DGR, Ngeow J.
    • J Med Genet. 2018 May;55(5):344-350. doi: 10.1136/jmedgenet-2017-105073. Epub 2017 Dec 23.
    • BRCAmut and "founder effect": a prospective study in a single academic institution.
    • Loizzi V, Cicinelli E, Santamaria F, Murgia F, Minicucci V, Resta L, Resta N, Natalicchio MI, Ranieri G, Cormio G.
    • Oncotarget. 2018 Apr 27;9(32):22353-22358. doi: 10.18632/oncotarget.24959. eCollection 2018 Apr 27.
    • Role of tumor microenvironment in ovarian cancer pathobiology.
    • Ghoneum A, Afify H, Salih Z, Kelly M, Said N.
    • Oncotarget. 2018 Apr 27;9(32):22832-22849. doi: 10.18632/oncotarget.25126. eCollection 2018 Apr 27.
    • Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome.
    • Minucci A, Concolino P, De Bonis M, Costella A, Paris I, Scambia G, Capoluongo E.
    • Hum Genome Var. 2018 Apr 20;5:2. doi: 10.1038/s41439-018-0003-0. eCollection 2018.
    • Pathogenic Germline Variants in 10,389 Adult Cancers.
    • Huang KL, Mashl RJ, Wu Y, Ritter DI, Wang J, Oh C, Paczkowska M, Reynolds S, Wyczalkowski MA, Oak N, Scott AD, Krassowski M, Cherniack AD, Houlahan KE, Jayasinghe R, Wang LB, Zhou DC, Liu D, Cao S, Kim YW, Koire A, McMichael JF, Hucthagowder V, Kim TB, Hahn A, Wang C, McLellan MD, Al-Mulla F, Johnson KJ; Cancer Genome Atlas Research Network, Lichtarge O, Boutros PC, Raphael B, Lazar AJ, Zhang W, Wendl MC, Govindan R, Jain S, Wheeler D, Kulkarni S, Dipersio JF, Reimand J, Meric-Bernstam F, Chen K, Shmulevich I, Plon SE, Chen F, Ding L.
    • Cell. 2018 Apr 5;173(2):355-370.e14. doi: 10.1016/j.cell.2018.03.039.
    • Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.
    • Caputo SM, Léone M, Damiola F, Ehlen A, Carreira A, Gaidrat P, Martins A, Brandão RD, Peixoto A, Vega A, Houdayer C, Delnatte C, Bronner M, Muller D, Castera L, Guillaud-Bataille M, Søkilde I, Uhrhammer N, Demontety S, Tubeuf H, Castelain G; French COVAR group collaborators, Jensen UB, Petitalot A, Krieger S, Lefol C, Moncoutier V, Boutry-Kryza N, Nielsen HR, Sinilnikova O, Stoppa-Lyonnet D, Spurdle AB, Teixeira MR, Coulet F, Thomassen M, Rouleau E.
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    • High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.
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    Letter:

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

    Letter, Reply:

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

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

    Research review, Commentary: XRAYS Follow Up: Does expanded genetic testing benefit Jewish women with breast cancer? (FORCE. XRAYS. 2018 Jun 7.)

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    Research news:

    Family history is strong risk factor in BRCA1 and BRCA2 carriers, study finds.

    Research news:

    Genetics: BRCA-mutant breast/ovarian cancer revealed.

    Press: Breast and ovarian cancers: Large study improves estimates of genetic risk. (Medical News Today)

    Press: Most Precise Estimates Ever of Cancer Risks With BRCA. (Medscape)

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    Letter:

    BRCA and lynch syndrome-associated ovarian cancers behave differently.

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    Letter: Ovarian carcinoma histotype in Lynch syndrome. (Gynecologic Oncology Reports)

    Letter:

    BRCA and lynch syndrome-associated ovarian cancers behave differently.

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    • Zhonghua Fu Chan Ke Za Zhi. 2017 Jan 25;52(1):26-31. doi: 10.3760/cma.j.issn.0529-567X.2017.01.007.
    • Article in Chinese; English Abstract
    • Pathologic findings at risk-reducing salpingo-oophorectomy (RRSO) in germline BRCA mutation carriers with breast cancer: significance of bilateral RRSO at the optimal age in germline BRCA mutation carriers.
    • Lee YJ, Lee SW, Kim KR, Jung KH, Lee JW, Kim YM.
    • J Gynecol Oncol. 2017 Jan;28(1):e3. doi: 10.3802/jgo.2017.28.e3. Epub 2016 Aug 8.
    • HE4 Serum Levels in Patients with BRCA1 Gene Mutation Undergoing Prophylactic Surgery as well as in Other Benign and Malignant Gynecological Diseases.
    • Chudecka-Głaz A, Cymbaluk-Płoska A, Strojna A, Menkiszak J.
    • Dis Markers. 2017;2017:9792756. doi: 10.1155/2017/9792756. Epub 2017 Jan 15.
    • Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil.
    • Maistro S, Teixeira N, Encinas G, Katayama ML, Niewiadonski VD, Cabral LG, Ribeiro RM, Gaburo Junior N, de Gouvêa AC, Carraro DM, Sabino EC, Diz MD, Chammas R, de Bock GH, Folgueira MA.
    • BMC Cancer. 2016 Dec 3;16(1):934.
    • Young premenopausal women with breast cancer, especially estrogen receptor negative, are at significantly increased risk for subsequent ovarian cancer.
    • Lehrer S, Rheinstein PH, Green S, Rosenzweig KE.
    • Discov Med. 2016 Oct;22(121):209-213.
    • Ovarian cancer patients at high risk of BRCA mutation: the constitutional genetic characterization does not change prognosis.
    • Sabatier R, Lavit E, Moretta J, Lambaudie E, Noguchi T, Eisinger F, Cherau E, Provansal M, Livon D, Rabayrol L, Popovici C, Charaffe-Jauffret E, Sobol H, Viens P.
    • Fam Cancer. 2016 Oct;15(4):497-506. doi: 10.1007/s10689-016-9873-9.
    • RE: BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.
    • Arbustini E, Sgarella A, Ferrari A, Grasso D, Cassani C, Lucioni M, Di Giulio G, Grasso M.
    • J Natl Cancer Inst. 2016 Aug 31;108(12). pii: djw172. doi: 10.1093/jnci/djw172. Print 2016 Dec.
    • Letter

    Letter, Reply

    Response.

    • Premalignant SOX2 overexpression in the fallopian tubes of ovarian cancer patients: Discovery and validation studies.
    • Hellner K, Miranda F, Fotso Chedom D, Herrero-Gonzalez S, Hayden DM, Tearle R, Artibani M, KaramiNejadRanjbar M, Williams R, Gaitskell K, Elorbany S, Xu R, Laios A, Buiga P, Ahmed K, Dhar S, Zhang RY, Campo L, Myers KA, Lozano M, Ruiz-Miró M, Gatius S, Mota A, Moreno-Bueno G, Matias-Guiu X, Benítez J, Witty L, McVean G, Leedham S, Tomlinson I, Drmanac R, Cazier JB, Klein R, Dunne K, Bast RC Jr, Kennedy SH, Hassan B, Lise S, Garcia MJ, Peters BA, Yau C, Sauka-Spengler T, Ahmed AA.
    • EBioMedicine. 2016 Aug;10:137-49. doi: 10.1016/j.ebiom.2016.06.048. Epub 2016 Jul 2.
    • Müllerian intra-abdominal carcinomatosis in hereditary breast ovarian cancer syndrome: implications for risk-reducing surgery.
    • Casey MJ, Colanta AB.
    • Fam Cancer. 2016 Jul;15(3):371-84. doi: 10.1007/s10689-016-9878-4.
    • Review
    • Cancer Incidence in First- and Second-Degree Relatives of BRCA1 and BRCA2 Mutation Carriers.
    • Streff H, Profato J, Ye Y, Nebgen D, Peterson SK, Singletary C, Arun BK, Litton JK.
    • Oncologist. 2016 Jul;21(7):869-74. doi: 10.1634/theoncologist.2015-0354. Epub 2016 Jun 15.
    • Ovarian Cancer in Hereditary Cancer Susceptibility Syndromes.
    • Nakonechny QB, Gilks CB.
    • Surg Pathol Clin. 2016 Jun;9(2):189-99. doi: 10.1016/j.path.2016.01.003. Epub 2016 Apr 11.
    • Review
    • Ovarian cancer in BRCA1 and BRCA2 gene mutation carriers: analysis of prognostic factors and survival.
    • Biglia N, Sgandurra P, Bounous VE, Maggiorotto F, Piva E, Pivetta E, Ponzone R, Pasini B.
    • Ecancermedicalscience. 2016 May 3;10:639. doi: 10.3332/ecancer.2016.639. eCollection 2016.
    • Inverse birth cohort effects in ovarian cancer: Increasing risk in BRCA1/2 mutation carriers and decreasing risk in the general population.
    • Vos JR, Mourits MJ, Teixeira N, Jansen L, Oosterwijk JC, de Bock GH.
    • Gynecol Oncol. 2016 Feb;140(2):289-294. doi: 10.1016/j.ygyno.2015.11.029. Epub 2015 Nov 26.
    • 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.
    • Identifying post-menopausal women at elevated risk for epithelial ovarian cancer.
    • Urban N, Hawley S, Janes H, Karlan BY, Berg CD, Drescher CW, Manson JE, Palomares MR, Daly MB, Wactawski-Wende J, O'Sullivan MJ, Thorpe J, Robinson RD, Lane D, Li C, Anderson GL.
    • Gynecol Oncol. 2015 Nov;139(2):253-260. doi: 10.1016/j.ygyno.2015.08.024. Epub 2015 Sep 3.
    • 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.
    • A risk prediction algorithm for ovarian cancer incorporating BRCA1, BRCA2, common alleles and other familial effects.
    • Jervis S, Song H, Lee A, Dicks E, Harrington P, Baynes C, Manchanda R, Easton DF, Jacobs I, Pharoah PP, Antoniou AC.
    • J Med Genet. 2015 Jul;52(7):465-75. doi: 10.1136/jmedgenet-2015-103077. Epub 2015 May 29.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: ovarian cancer risk based on family history

    • 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.
    • Population Distribution of Lifetime Risk of Ovarian Cancer in the United States.
    • Pearce CL, Stram DO, Ness RB, Stram DA, Roman LD, Templeman C, Lee AW, Menon U, Fasching PA, McAlpine JN, Doherty JA, Modugno F, Schildkraut JM, Rossing MA, Huntsman DG, Wu AH, Berchuck A, Pike MC, Pharoah PD.
    • Cancer Epidemiol Biomarkers Prev. 2015 Apr;24(4):671-6. doi: 10.1158/1055-9965.EPI-14-1128. Epub 2015 Jan 26.
    • Hypodontia phenotype in patients with epithelial ovarian cancer.
    • Fekonja A, Cretnik A, Zerdoner D, Takac I.
    • Radiol Oncol. 2015 Mar 3;49(1):65-70. doi: 10.2478/raon-2014-0034. eCollection 2015.
    • Impact of a paternal origin of germline BRCA1/2 mutations on the age at breast and ovarian cancer diagnosis in a Southern Swedish cohort.
    • Ellberg C, Jernström H, Broberg P, Borg Å, Olsson H.
    • Genes Chromosomes Cancer. 2015 Jan;54(1):39-50. doi: 10.1002/gcc.22217. Epub 2014 Sep 23.
    • Precursors of ovarian cancer in the fallopian tube: serous tubal intraepithelial carcinoma--an update.
    • Zeppernick F, Meinhold-Heerlein I, Shih IeM.
    • J Obstet Gynaecol Res. 2015 Jan;41(1):6-11. doi: 10.1111/jog.12550. Epub 2014 Oct 20.
    • Natural history of ovarian cancer.
    • Vargas AN.
    • Ecancermedicalscience. 2014 Sep 25;8:465. doi: 10.3332/ecancer.2014.465. eCollection 2014.
    • Modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: systematic review and meta-analysis.
    • Friebel TM, Domchek SM, Rebbeck TR.
    • J Natl Cancer Inst. 2014 Jun;106(6):dju091. doi: 10.1093/jnci/dju091.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: chemoprevetion for ovarian cancer

    News: Study Identifies Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. (The ASCO Post)

    • THE BRCA CANCER GENE AS A USEFUL PREDICTOR FOR DOUBLE PRIMARY BREAST AND OVARIAN CANCER: A META-ANALYSIS.
    • A. Sattaratnamai, G.D. Eslick.
    • Ann Oncol (2014 May) 25 (suppl 1): i5-i6. doi: 10.1093/annonc/mdu065.6. IMPAKT Breast Cancer Conference, 8–10 May 2014, Brussels, Belgium.
    • Conference Abstract, Meta-Analysis, Review
    • DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
    • Osorio A, Milne RL, Kuchenbaecker K, Vaclová T, Pita G, Alonso R, Peterlongo P, Blanco I, de la Hoya M, Duran M, Díez O, Ramón Y Cajal T, Konstantopoulou I, Martínez-Bouzas C, Andrés Conejero R, Soucy P, McGuffog L, Barrowdale D, Lee A, Swe-Brca, Arver B, Rantala J, Loman N, Ehrencrona H, Olopade OI, Beattie MS, Domchek SM, Nathanson K, Rebbeck TR, Arun BK, Karlan BY, Walsh C, Lester J, John EM, Whittemore AS, Daly MB, Southey M, Hopper J, Terry MB, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Ejlertsen B, Gerdes AM, Infante M, Herráez B, Moreno LT, Weitzel JN, Herzog J, Weeman K, Manoukian S, Peissel B, Zaffaroni D, Scuvera G, Bonanni B, Mariette F, Volorio S, Viel A, Varesco L, Papi L, Ottini L, Tibiletti MG, Radice P, Yannoukakos D, Garber J, Ellis S, Frost D, Platte R, Fineberg E, Evans G, Lalloo F, Izatt L, Eeles R, Adlard J, Davidson R, Cole T, Eccles D, Cook J, Hodgson S, Brewer C, Tischkowitz M, Douglas F, Porteous M, Side L, Walker L, Morrison P, Donaldson A, Kennedy J, Foo C, Godwin AK, Schmutzler RK, Wappenschmidt B, Rhiem K, Engel C, Meindl A, Ditsch N, Arnold N, Plendl HJ, Niederacher D, Sutter C, Wang-Gohrke S, Steinemann D, Preisler-Adams S, Kast K, Varon-Mateeva R, Gehrig A, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Damiola F, Poppe B, Claes K, Piedmonte M, Tucker K, Backes F, Rodríguez G, Brewster W, Wakeley K, Rutherford T, Caldés T, Nevanlinna H, Aittomäki K, Rookus MA, van Os TA, van der Kolk L, de Lange JL, Meijers-Heijboer HE, van der Hout AH, van Asperen CJ, Gómez Garcia EB, Hoogerbrugge N, Collée JM, van Deurzen CH, van der Luijt RB, Devilee P, Hebon, Olah E, Lázaro C, Teulé A, Menéndez M, Jakubowska A, Cybulski C, Gronwald J, Lubinski J, Durda K, Jaworska-Bieniek K, Johannsson OT, Maugard C, Montagna M, Tognazzo S, Teixeira MR, Healey S, Investigators K, Olswold C, Guidugli L, Lindor N, Slager S, Szabo CI, Vijai J, Robson M, Kauff N, Zhang L, Rau-Murthy R, Fink-Retter A, Singer CF, Rappaport C, Geschwantler Kaulich D, Pfeiler G, Tea MK, Berger A, Phelan CM, Greene MH, Mai PL, Lejbkowicz F, Andrulis I, Mulligan AM, Glendon G, Toland AE, Bojesen A, Pedersen IS, Sunde L, Thomassen M, Kruse TA, Jensen UB, Friedman E, Laitman Y, Shimon SP, Simard J, Easton DF, Offit K, Couch FJ, Chenevix-Trench G, Antoniou AC, Benitez J.
    • PLoS Genet. 2014 Apr 3;10(4):e1004256. doi: 10.1371/journal.pgen.1004256. eCollection 2014.
    • Oral contraceptive and reproductive risk factors for ovarian cancer within sisters in the breast cancer family registry.
    • Ferris JS, Daly MB, Buys SS, Genkinger JM, Liao Y, Terry MB.
    • Br J Cancer. 2014 Feb 18;110(4):1074-80. doi: 10.1038/bjc.2013.803. Epub 2014 Jan 7.
    • [Hereditary ovarian carcinomas: clinico-biological features and treatment].
    • Floquet A, Stoeckle E, Croce S, Longy M, Mc Grogan G, Barouk E, Bubien V, Garbay D, Joly E, Guyon F.
    • Bull Cancer. 2014 Feb;101(2):167-74. doi: 10.1684/bdc.2014.1888.
    • Review, [Article in French]
    • Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations.
    • Brohet RM, Velthuizen ME, Hogervorst FB, Ej Meijers-Heijboer H, Seynaeve C, Collée MJ, Verhoef S, Ausems MG, Hoogerbrugge N, van Asperen CJ, Gómez García E, Menko F, Oosterwijk JC, Devilee P, Veer LJ, van Leeuwen FE, Easton DF, Rookus MA, Antoniou AC; HEBON Resource.
    • J Med Genet. 2014 Feb;51(2):98-107. doi: 10.1136/jmedgenet-2013-101974. Epub 2013 Nov 27.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA1 Positive Patients and Oral Contraceptive Usage

    • Ovarian cancer familial relative risks by tumour subtypes and by known ovarian cancer genetic susceptibility variants.
    • Jervis S, Song H, Lee A, Dicks E, Tyrer J, Harrington P, Easton DF, Jacobs IJ, Pharoah PP, Antoniou AC.
    • J Med Genet. 2014 Feb;51(2):108-13. doi: 10.1136/jmedgenet-2013-102015. Epub 2013 Nov 25.
    • Establishing the origin of metastatic deposits in the setting of multiple primary malignancies: the role of massively parallel sequencing.
    • De Mattos-Arruda L, Bidard FC, Won HH, Cortes J, Ng CK, Peg V, Nuciforo P, Jungbluth AA, Weigelt B, Berger MF, Seoane J, Reis-Filho JS.
    • Mol Oncol. 2014 Feb;8(1):150-8. doi: 10.1016/j.molonc.2013.10.006. Epub 2013 Oct 31.
    • BRCA and Early Events in the Development of Serous Ovarian Cancer.
    • George SH, Shaw P.
    • Front Oncol. 2014 Jan 23;4:5. doi: 10.3389/fonc.2014.00005. eCollection 2014.
    • Phenotypic heterogeneity of hereditary gynecologic cancers: a report from the Creighton hereditary cancer registry.
    • Casey MJ, Bewtra C, Lynch HT, Snyder C, Stacy M, Watson P.
    • Fam Cancer. 2013 Dec;12(4):719-40. doi: 10.1007/s10689-013-9651-x.
    • Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.
    • de Juan Jiménez I, García Casado Z, Palanca Suela S, Esteban Cardeñosa E, López Guerrero JA, Segura Huerta A, Chirivella González I, Sánchez Heras AB, Juan Fita MJ, Tena García I, Guillen Ponce C, Martínez de Dueñas E, Romero Noguera I, Salas Trejo D, Goicoechea Sáez M, Bolufer Gilabert P.
    • Fam Cancer. 2013 Dec;12(4):767-77. doi: 10.1007/s10689-013-9622-2.
    • The sex hormone system in carriers of BRCA1/2 mutations: a case-control study.
    • Widschwendter M, Rosenthal AN, Philpott S, Rizzuto I, Fraser L, Hayward J, Intermaggio MP, Edlund CK, Ramus SJ, Gayther SA, Dubeau L, Fourkala EO, Zaikin A, Menon U, Jacobs IJ.
    • Lancet Oncol. 2013 Nov;14(12):1226-32. doi: 10.1016/S1470-2045(13)70448-0. Epub 2013 Oct 17.

    Letter, Comment:

    Untangling BRCA mutations, sex hormones, and cancer risk.

    Press: Female hormones key to breast and ovarian cancer in BRCA gene carriers. (Medical Xpress)

    • [Multiple primary malignancies in BRCA1 mutation carriers--two clinical cases].
    • Badora A, Kaleta B, Nowara E, Sikora-Jopek M, Budryk M, Smok-Ragankiewicz A.
    • Ginekol Pol. 2013 Oct;84(10):892-6.
    • Added value of family history in counseling about risk of BRCA1/2 mutation in early-onset epithelial ovarian cancer.
    • Arts-de Jong M, Manders CM, Hoogerbrugge N, Ligtenberg MJ, Massuger LF, de Hullu JA, Spruijt L.
    • Int J Gynecol Cancer. 2013 Oct;23(8):1406-10. doi: 10.1097/IGC.0b013e3182a1cf71.
    • [Characteristics of selected clinical features in BRCA1 mutation carriers affected with breast cancer undergoing preventive female genital tract surgeries].
    • Menkiszak J, Chudecka-Głaz A, Gronwald J, Bedner R, Cymbaluk-Płoska A, Wezowska M, Zielińska D, Rzepka-Górska I.
    • Ginekol Pol. 2013 Sep;84(9):758-64.
    • BRCA1 gene mutation in thymic malignant melanoma.
    • Yi EJ, Park JH, Lee HW, Cho SY, Na II, Kang MC.
    • Ann Thorac Surg. 2013 Aug;96(2):677-80. doi: 10.1016/j.athoracsur.2012.12.017.
    • Risk Prediction for Breast, Endometrial, and Ovarian Cancer in White Women Aged 50 y or Older: Derivation and Validation from Population-Based Cohort Studies.
    • Pfeiffer RM, Park Y, Kreimer AR, Lacey JV Jr, Pee D, Greenlee RT, Buys SS, Hollenbeck A, Rosner B, Gail MH, Hartge P.
    • PLoS Med. 2013 Jul;10(7):e1001492. doi: 10.1371/journal.pmed.1001492. Epub 2013 Jul 30.

    Comment:

    Evaluation of prediction models for decision-making: beyond calibration and discrimination.

    Research News: Risk prediction. (Nature Reviews Cancer)

    • Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.
    • Mavaddat N, Peock S, Frost D, Ellis S, Platte R, Fineberg E, Evans DG, Izatt L, Eeles RA, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Tischkowitz M, Douglas F, Hodgson S, Walker L, Porteous ME, Morrison PJ, Side LE, Kennedy MJ, Houghton C, Donaldson A, Rogers MT, Dorkins H, Miedzybrodzka Z, Gregory H, Eason J, Barwell J, McCann E, Murray A, Antoniou AC, Easton DF; EMBRACE.
    • J Natl Cancer Inst. 2013 Jun 5;105(11):812-22. doi: 10.1093/jnci/djt095. Epub 2013 Apr 29.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: BRCA risks by age

    Subject: Counseling against RRM in a 60 year old with BRCA2 mutation?

    Press: Cancer Risks for BRCA1 and BRCA2 Mutation Carriers (Medscape)

    • Ovarian cancer among 8,005 women from a breast cancer family history clinic: no increased risk of invasive ovarian cancer in families testing negative for BRCA1 and BRCA2.
    • Ingham SL, Warwick J, Buchan I, Sahin S, O'Hara C, Moran A, Howell A, Evans DG.
    • J Med Genet. 2013 Jun;50(6):368-72. doi: 10.1136/jmedgenet-2013-101607. Epub 2013 Mar 28.

    Research News:

    BRCA1/2 negative status predicts no extended risk of invasive ovarian cancer.

    • BRCA1: A Missing Link in the Fanconi Anemia/BRCA Pathway.
    • D'Andrea AD.
    • Cancer Discov. 2013 Apr;3(4):376-8. doi: 10.1158/2159-8290.CD-13-0044.

    Case report:

    Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.

    • Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.
    • Domchek SM1, Tang J, Stopfer J, Lilli DR, Hamel N, Tischkowitz M, Monteiro AN, Messick TE, Powers J, Yonker A, Couch FJ, Goldgar DE, Davidson HR, Nathanson KL, Foulkes WD, Greenberg RA.
    • Cancer Discov. 2013 Apr;3(4):399-405. doi: 10.1158/2159-8290.CD-12-0421. Epub 2012 Dec 26.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA1 deleterious mutation plus VUS on exon 9

    Commentary

    BRCA1: A Missing Link in the Fanconi Anemia/BRCA Pathway.

    • The prevalence of BRCA mutations among familial breast cancer patients in Korea: results of the Korean Hereditary Breast Cancer study.
    • Han SA, Kim SW, Kang E, Park SK, Ahn SH, Lee MH, Nam SJ, Han W, Bae YT, Kim HA, Cho YU, Chang MC, Paik NS, Hwang KT, Kim SJ, Noh DY, Choi DH, Noh WC, Kim LS, Kim KS, Suh YJ, Lee JE, Jung Y, Moon BI, Yang JH, Son BH, Yom CK, Kim SY, Lee H, Jung SH; KOHBRA Research Group and the Korean Breast Cancer Society.
    • Fam Cancer. 2013 Mar;12(1):75-81. doi: 10.1007/s10689-012-9578-7.
    • 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.
    • Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk.
    • Couch FJ, Wang X, McGuffog L, Lee A, Olswold C, Kuchenbaecker KB, Soucy P, Fredericksen Z, Barrowdale D, Dennis J, Gaudet MM, Dicks E, Kosel M, Healey S, Sinilnikova OM, Lee A, Bacot F, Vincent D, Hogervorst FB, Peock S, Stoppa-Lyonnet D, Jakubowska A, Investigators K, Radice P, Schmutzler RK; SWE-BRCA, Domchek SM, Piedmonte M, Singer CF, Friedman E, Thomassen M; Ontario Cancer Genetics Network, Hansen TV, Neuhausen SL, Szabo CI, Blanco I, Greene MH, Karlan BY, Garber J, Phelan CM, Weitzel JN, Montagna M, Olah E, Andrulis IL, Godwin AK, Yannoukakos D, Goldgar DE, Caldes T, Nevanlinna H, Osorio A, Terry MB, Daly MB, van Rensburg EJ, Hamann U, Ramus SJ, Ewart Toland A, Caligo MA, Olopade OI, Tung N, Claes K, Beattie MS, Southey MC, Imyanitov EN, Tischkowitz M, Janavicius R, John EM, Kwong A, Diez O, Balmaña J, Barkardottir RB, Arun BK, Rennert G, Teo SH, Ganz PA, Campbell I, van der Hout AH, van Deurzen CH, Seynaeve C, Gómez Garcia EB, van Leeuwen FE, Meijers-Heijboer HE, Gille JJ, Ausems MG, Blok MJ, Ligtenberg MJ, Rookus MA, Devilee P, Verhoef S, van Os TA, Wijnen JT; HEBON; EMBRACE, Frost D, Ellis S, Fineberg E, Platte R, Evans DG, Izatt L, Eeles RA, Adlard J, Eccles DM, Cook J, Brewer C, Douglas F, Hodgson S, Morrison PJ, Side LE, Donaldson A, Houghton C, Rogers MT, Dorkins H, Eason J, Gregory H, McCann E, Murray A, Calender A, Hardouin A, Berthet P, Delnatte C, Nogues C, Lasset C, Houdayer C, Leroux D, Rouleau E, Prieur F, Damiola F, Sobol H, Coupier I, Venat-Bouvet L, Castera L, Gauthier-Villars M, Léoné M, Pujol P, Mazoyer S, Bignon YJ; GEMO Study Collaborators, Złowocka-Perłowska E, Gronwald J, Lubinski J, Durda K, Jaworska K, Huzarski T, Spurdle AB, Viel A, Peissel B, Bonanni B, Melloni G, Ottini L, Papi L, Varesco L, Tibiletti MG, Peterlongo P, Volorio S, Manoukian S, Pensotti V, Arnold N, Engel C, Deissler H, Gadzicki D, Gehrig A, Kast K, Rhiem K, Meindl A, Niederacher D, Ditsch N, Plendl H, Preisler-Adams S, Engert S, Sutter C, Varon-Mateeva R, Wappenschmidt B, Weber BH, Arver B, Stenmark-Askmalm M, Loman N, Rosenquist R, Einbeigi Z, Nathanson KL, Rebbeck TR, Blank SV, Cohn DE, Rodriguez GC, Small L, Friedlander M, Bae-Jump VL, Fink-Retter A, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Lindor NM, Kaufman B, Shimon Paluch S, Laitman Y, Skytte AB, Gerdes AM, Pedersen IS, Moeller ST, Kruse TA, Jensen UB, Vijai J, Sarrel K, Robson M, Kauff N, Mulligan AM, Glendon G, Ozcelik H, Ejlertsen B, Nielsen FC, Jønson L, Andersen MK, Ding YC, Steele L, Foretova L, Teulé A, Lazaro C, Brunet J, Pujana MA, Mai PL, Loud JT, Walsh C, Lester J, Orsulic S, Narod SA, Herzog J, Sand SR, Tognazzo S, Agata S, Vaszko T, Weaver J, Stavropoulou AV, Buys SS, Romero A, de la Hoya M, Aittomäki K, Muranen TA, Duran M, Chung WK, Lasa A, Dorfling CM, Miron A; BCFR, Benitez J, Senter L, Huo D, Chan SB, Sokolenko AP, Chiquette J, Tihomirova L, Friebel TM, Agnarsson BA, Lu KH, Lejbkowicz F, James PA, Hall P, Dunning AM, Tessier D, Cunningham J, Slager SL, Wang C, Hart S, Stevens K, Simard J, Pastinen T, Pankratz VS, Offit K, Easton DF, Chenevix-Trench G, Antoniou AC; CIMBA.
    • PLoS Genet. 2013 Mar;9(3):e1003212. doi: 10.1371/journal.pgen.1003212. Epub 2013 Mar 27.
    • Hereditary gynaecological malignancies: advances in screening and treatment.
    • Folkins AK, Longacre TA.
    • Histopathology. 2013 Jan;62(1):2-30. doi: 10.1111/his.12028.
    • Review
    • Increased incidence of brain metastases in BRCA1-related ovarian cancers.
    • Sekine M, Yoshihara K, Komata D, Haino K, Nishino K, Tanaka K.
    • J Obstet Gynaecol Res. 2013 Jan;39(1):292-6. doi: 10.1111/j.1447-0756.2012.01961.x. Epub 2012 Aug 13.
    • Differing clinical impact of BRCA1 and BRCA2 mutations in serous ovarian cancer.
    • Liu G, Yang D, Sun Y, Shmulevich I, Xue F, Sood AK, Zhang W.
    • Pharmacogenomics. 2012 Oct;13(13):1523-35. doi: 10.2217/pgs.12.137.

    Press: Differing clinical impact of BRCA1 and BRCA2 mutations in serous ovarian cancer. (Medscape)

    • Solitary brain metastasis in a patient with ovarian cancer with BRCA2 mutation.
    • Root K, Armaghany T.
    • J Clin Oncol. 2012 Sep 1;30(25):e239-40. doi: 10.1200/JCO.2011.41.5919. Epub 2012 Jul 2.
    • Limited significance of family history for presence of BRCA1 gene mutation in Polish breast and ovarian cancer cases.
    • Brozek I, Ratajska M, Piatkowska M, Kluska A, Balabas A, Dabrowska M, Nowakowska D, Niwinska A, Rachtan J, Steffen J, Limon J.
    • Fam Cancer. 2012 Sep;11(3):351-4. doi: 10.1007/s10689-012-9519-5.
    • Breast and ovarian cancer risk management in a French cohort of 158 women carrying a BRCA1 or BRCA2 germline mutation: patient choices and outcome.
    • This P, de la Rochefordière A, Savignoni A, Falcou MC, Tardivon A, Thibault F, Alran S, Fourchotte V, Fitoussi A, Couturaud B, Dolbeault S, Salmon RJ, Sigal-Zafrani B, Asselain B, Stoppa-Lyonnet D.
    • Fam Cancer. 2012 Sep;11(3):473-82. doi: 10.1007/s10689-012-9539-1.
    • BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
    • Spurdle AB, Whiley PJ, Thompson B, Feng B, Healey S, Brown MA, Pettigrew C; kConFab, Van Asperen CJ, Ausems MG, Kattentidt-Mouravieva AA, van den Ouweland AM; Dutch Belgium UV Consortium, Lindblom A, Pigg MH, Schmutzler RK, Engel C, Meindl A; German Consortium of Hereditary Breast and Ovarian Cancer, Caputo S, Sinilnikova OM, Lidereau R; French COVAR group collaborators, Couch FJ, Guidugli L, Hansen Tv, Thomassen M, Eccles DM, Tucker K, Benitez J, Domchek SM, Toland AE, Van Rensburg EJ, Wappenschmidt B, Borg Å, Vreeswijk MP, Goldgar DE; ENIGMA Consortium.
    • J Med Genet. 2012 Aug;49(8):525-32.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Pathogenic variant with low penetrance identified in BRCA1

    Subject: Reduced penetrance pathogenic BRCA1 mutation

    Free article: BRCA1 R1699Q Variant Displaying Ambiguous Functional Abrogation Confers Intermediate Breast and Ovarian Cancer Risk. (Medscape)

    • Increased risks of third primary cancers of non-breast origin among women with bilateral breast cancer.
    • Kwast AB, Liu L, Roukema JA, Voogd AC, Jobsen JJ, Coebergh JW, Soerjomataram I, Siesling S.
    • Br J Cancer. 2012 Jul 24;107(3):549-55. doi: 10.1038/bjc.2012.270. Epub 2012 Jun 19.
    • A simulation model to predict the impact of prophylactic surgery and screening on the life expectancy of BRCA1 and BRCA2 mutation carriers.
    • Sigal BM, Munoz DF, Kurian AW, Plevritis SK.
    • Cancer Epidemiol Biomarkers Prev. 2012 Jul;21(7):1066-77. doi: 10.1158/1055-9965.EPI-12-0149. Epub 2012 May 3.
    • Long-term follow-up of Jewish women with a BRCA1 and BRCA2 mutation who underwent population genetic screening.
    • Metcalfe KA, Mian N, Enmore M, Poll A, Llacuachaqui M, Nanda S, Sun P, Hughes KS, Narod SA.
    • Breast Cancer Res Treat. 2012 Jun;133(2):735-40. doi: 10.1007/s10549-011-1941-0. Epub 2012 Jan 13.
    • Anthropometric measures and risk of ovarian cancer among BRCA1 and BRCA2 mutation carriers.
    • McGee J, Kotsopoulos J, Lubinski J, Lynch HT, Rosen B, Tung N, Kim-Sing C, Karlan B, Foulkes WD, Ainsworth P, Ghadirian P, Senter L, Eisen A, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group.
    • Obesity (Silver Spring). 2012 Jun;20(6):1288-92. doi: 10.1038/oby.2011.394. Epub 2012 Jan 19.
    • [Clinical features and disease course in patients with BRCA1-dependent ovarian cancer].
    • Blecharz P, Szatkowski W, Bodzek M, Łuczyńska E.
    • Ginekol Pol. 2012 May;83(5):353-6.
    • [Article in Polish]
    • Clinicopathologic characteristics and survival in BRCA1- and BRCA2-related adnexal cancer: are they different?
    • Reitsma W, de Bock GH, Oosterwijk JC, ten Hoor KA, Hollema H, Mourits MJ.
    • Int J Gynecol Cancer. 2012 May;22(4):579-85. doi: 10.1097/IGC.0b013e31823d1b5c.
    • The potential for risk stratification in the management of ovarian cancer risk.
    • Pharoah PD.
    • Int J Gynecol Cancer. 2012 May;22 Suppl 1:S16-7. doi: 10.1097/IGC.0b013e318251caaf.
    • Review
    • Shorter telomere length is associated with increased ovarian cancer risk in both familial and sporadic cases.
    • Martinez-Delgado B, Yanowsky K, Inglada-Perez L, de la Hoya M, Caldes T, Vega A, Blanco A, Martin T, Gonzalez-Sarmiento R, Blasco M, Robledo M, Urioste M, Song H, Pharoah P, Benitez J.
    • J Med Genet. 2012 May;49(5):341-4. Epub 2012 Apr 6.

    Free Full Text: Shorter Telomere Length Is Associated With Increased Ovarian Cancer Risk in Both Familial and Sporadic Cases. (Medscape Oncology)

    • BRCA1 and BRCA2 mutations correlate with TP53 abnormalities and presence of immune cell infiltrates in ovarian high-grade serous carcinoma.
    • McAlpine JN, Porter H, Köbel M, Nelson BH, Prentice LM, Kalloger SE, Senz J, Milne K, Ding J, Shah SP, Huntsman DG, Gilks CB.
    • Mod Pathol. 2012 May;25(5):740-50. doi: 10.1038/modpathol.2011.211. Epub 2012 Jan 27.
    • Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.
    • Finkelman BS, Rubinstein WS, Friedman S, Friebel TM, Dubitsky S, Schonberger NS, Shoretz R, Singer CF, Blum JL, Tung N, Olopade OI, Weitzel JN, Lynch HT, Snyder C, Garber JE, Schildkraut J, Daly MB, Isaacs C, Pichert G, Neuhausen SL, Couch FJ, van't Veer L, Eeles R, Bancroft E, Evans DG, Ganz PA, Tomlinson GE, Narod SA, Matloff E, Domchek S, Rebbeck TR.
    • J Clin Oncol. 2012 Apr 20;30(12):1321-8. doi: 10.1200/JCO.2011.37.8133. Epub 2012 Mar 19.
    • 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.
    • Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
    • Couch FJ, Gaudet MM, Antoniou AC, Ramus SJ, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, Wang X, Kirchhoff T, McGuffog L, Barrowdale D, Lee A, Healey S, Sinilnikova OM, Andrulis IL; OCGN, Ozcelik H, Mulligan AM, Thomassen M, Gerdes AM, Jensen UB, Skytte AB, Kruse TA, Caligo MA, von Wachenfeldt A, Barbany-Bustinza G, Loman N, Soller M, Ehrencrona H, Karlsson P; SWE-BRCA, Nathanson KL, Rebbeck TR, Domchek SM, Jakubowska A, Lubinski J, Jaworska K, Durda K, Zlowocka E, Huzarski T, Byrski T, Gronwald J, Cybulski C, Górski B, Osorio A, Durán M, Tejada MI, Benitez J, Hamann U, Hogervorst FB; HEBON, van Os TA, van Leeuwen FE, Meijers-Heijboer HE, Wijnen J, Blok MJ, Kets M, Hooning MJ, Oldenburg RA, Ausems MG, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Jacobs C, Eeles RA, Adlard J, Davidson R, Eccles DM, Cole T, Cook J, Paterson J, Brewer C, Douglas F, Hodgson SV, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Side LE; EMBRACE, Bove B, Godwin AK, Stoppa-Lyonnet D; GEMO Study Collaborators, Fassy-Colcombet M, Castera L, Cornelis F, Mazoyer S, Léoné M, Boutry-Kryza N, Bressac-de Paillerets B, Caron O, Pujol P, Coupier I, Delnatte C, Akloul L, Lynch HT, Snyder CL, Buys SS, Daly MB, Terry M, Chung WK, John EM, Miron A, Southey MC, Hopper JL, Goldgar DE, Singer CF, Rappaport C, Tea MK, Fink-Retter A, Hansen TV, Nielsen FC, Arason A, Vijai J, Shah S, Sarrel K, Robson ME, Piedmonte M, Phillips K, Basil J, Rubinstein WS, Boggess J, Wakeley K, Ewart-Toland A, Montagna M, Agata S, Imyanitov EN, Isaacs C, Janavicius R, Lazaro C, Blanco I, Feliubadalo L, Brunet J, Gayther SA, Pharoah PP, Odunsi KO, Karlan BY, Walsh CS, Olah E, Teo SH, Ganz PA, Beattie MS, van Rensburg EJ, Dorfling CM, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B, Heinritz W, Caldes T, de la Hoya M, Muranen TA, Nevanlinna H, Tischkowitz MD, Spurdle AB, Neuhausen SL, Ding YC, Lindor NM, Fredericksen Z, Pankratz VS, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Barile M, Bernard L, Viel A, Giannini G, Varesco L, Radice P, Greene MH, Mai PL, Easton DF, Chenevix-Trench G; kConFab investigators, Offit K, Simard J; Consortium of Investigators of Modifiers of BRCA1/2.
    • Cancer Epidemiol Biomarkers Prev. 2012 Apr;21(4):645-57. doi: 10.1158/1055-9965.EPI-11-0888. Epub 2012 Feb 20.
    • [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]
    • Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.
    • Ramus SJ, Antoniou AC, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, McGuffog L, Sinilnikova OM, Healey S, Barrowdale D, Lee A, Thomassen M; many others.
    • Hum Mutat. 2012 Apr;33(4):690-702. doi: 10.1002/humu.22025. Epub 2012 Feb 14.
    • Unravelling modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: update on genetic modifiers.
    • Barnes DR, Antoniou AC.
    • J Intern Med. 2012 Apr;271(4):331-43. doi: 10.1111/j.1365-2796.2011.02502.x.
    • Association of death receptor 4 variant (683A>C) with ovarian cancer risk in BRCA1 mutation carriers.
    • Dick MG, Versmold B, Engel C, Meindl A, Arnold N, Varon-Mateeva R, Sutter C, Niederacher D, Deissler H, Preisler-Adams S, Kast K, Schäfer D, Gadzicki D, Heinritz W, Wappenschmidt B, Schmutzler RK.
    • Int J Cancer. 2012 Mar 15;130(6):1314-8. doi: 10.1002/ijc.26134. Epub 2011 May 30.
    • High frequency of allelic loss at the BRCA1 locus in ovarian cancers: clinicopathologic and molecular associations.
    • Rzepecka IK, Szafron L, Stys A, Bujko M, Plisiecka-Halasa J, Madry R, Osuch B, Markowska J, Bidzinski M, Kupryjanczyk J.
    • Cancer Genet. 2012 Mar;205(3):94-100. doi: 10.1016/j.cancergen.2011.12.005.
    • Impact of lifestyle factors on preneoplastic changes in prophylactic oophorectomies of BRCA mutation carriers.
    • Primas H, Kroiss R, Kalteis K, Rappaport C, Muhr D, Primas C, Kubista E, Horvat R, Oefner P, Singer C, Wagner And The Austrian Hereditary Breast And Ovarian Cancer Group T.
    • Eur J Cancer Prev. 2012 Mar;21(2):199-204. doi: 10.1097/CEJ.0b013e32834c9b22.
    • A surveillance conundrum: a case of 4 distinct primary malignancies in a BRCA-1 mutation carrier.
    • Ricci S, Shafer A, Nerenstone S, Mandavilli S, Sorosky J.
    • Int J Gynecol Pathol. 2012 Mar;31(2):145-8. doi: 10.1097/PGP.0b013e318227ad58.
    • Case Report
    • Assessment of symptomatic women for early diagnosis of ovarian cancer: results from the prospective DOvE pilot project.
    • Gilbert L, Basso O, Sampalis J, Karp I, Martins C, Feng J, Piedimonte S, Quintal L, Ramanakumar AV, Takefman J, Grigorie MS, Artho G, Krishnamurthy S; for the DOvE Study Group.
    • Lancet Oncol. 2012 Mar;13(3):285-91. doi: 10.1016/S1470-2045(11)70333-3. Epub 2012 Jan 17.
    • Online tool to guide decisions for BRCA1/2 mutation carriers.
    • Kurian AW, Munoz DF, Rust P, Schackmann EA, Smith M, Clarke L, Mills MA, Plevritis SK.
    • J Clin Oncol. 2012 Feb 10;30(5):497-506. doi: 10.1200/JCO.2011.38.6060. Epub 2012 Jan 9.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: An Online BRCA Positive Decision Guidance Tool.

    Comment:

    Are we ready for online tools in decision making for BRCA1/2 mutation carriers?

    Press: Are We Ready for Online Tools in Decision Making for BRCA1/2 Mutation Carriers? (Journal of Clinical Oncology)

    Press: Online tool helps those with BRCA mutations understand options. (Medical Xpress)

    • Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing.
    • De Leeneer K, Coene I, Crombez B, Simkens J, Van den Broecke R, Bols A, Stragier B, Vanhoutte I, De Paepe A, Poppe B, Claes K.
    • Breast Cancer Res Treat. 2012 Feb;132(1):87-95. doi: 10.1007/s10549-011-1544-9. Epub 2011 May 7.
    • Appendectomy and cancer risk in Jewish BRCA1 and BRCA2 mutation carriers.
    • Bernholtz S, Jakobson-Setton A, Korach J, Ben Baruch G, Laitman Y, Friedman E.
    • Breast Cancer Res Treat. 2012 Feb;131(3):981-5. doi: 10.1007/s10549-011-1807-5. Epub 2011 Oct 9.
    • BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia.
    • Rodríguez AO, Llacuachaqui M, Pardo GG, Royer R, Larson G, Weitzel JN, Narod SA.
    • Gynecol Oncol. 2012 Feb;124(2):236-43. doi: 10.1016/j.ygyno.2011.10.027. Epub 2011 Oct 29.
    • The BRCA2 c.9004G>A (E2002K) [corrected] variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent.
    • Cote S, Arcand SL, Royer R, Nolet S, Mes-Masson AM, Ghadirian P, Foulkes WD, Tischkowitz M, Narod SA, Provencher D, Tonin PN.
    • Breast Cancer Res Treat. 2012 Jan;131(1):333-40. doi: 10.1007/s10549-011-1796-4. Epub 2011 Sep 27.