“Standard” BRCA1/2 Mutations ~ Mutation Spectrum
~ Genetics of Breast & Ovarian Cancer

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    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Ewing Sarcoma and early onset pancreatic cancer?

    Subject: Exome for Cancer LMN

    Editorial

    Defining Why Cancer Develops in Children.

    Letter

    Germline Mutations in Predisposition Genes in Pediatric Cancer.

    Reply / Letter

    Germline Mutations in Predisposition Genes in Pediatric Cancer.

    Research Highlight

    Cancer predisposition: Searching for early events.

    News

    Genetic mutations in paediatric cancer.

    Press: Why Some Children Get Cancer: Germline Mutations Found (Medscape)

    News: Destiny or chance? (Science Translational Medicine)

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    Comment / Editorial

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

    • Initial Results of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.
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    • Am Surg. 2015 Oct;81(10):941-4.
    • Multigene Panel Testing Detects Equal Rates of Pathogenic BRCA1/2 Mutations and has a Higher Diagnostic Yield Compared to Limited BRCA1/2 Analysis Alone in Patients at Risk for Hereditary Breast Cancer.
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    • Case report, Letter
    • BRCA1/2 population screening: embracing the benefits.
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    Commentary

    Is it time to offer BRCA1 and BRCA2 testing to all Jewish women?

    • Is it time to offer BRCA1 and BRCA2 testing to all Jewish women?
    • Metcalfe KA, Eisen A, Lerner-Ellis J, Narod SA.
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    • Familial Pancreatic Adenocarcinoma.
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    • Review
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    • Breast cancer: Diagnostic service shares BRCA data.
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    • Comment, Lettere

    Editorial

    Thank you for sharing.

    • Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk.
    • Easton DF, Pharoah PD, Antoniou AC, Tischkowitz M, Tavtigian SV, Nathanson KL, Devilee P, Meindl A, Couch FJ, Southey M, Goldgar DE, Evans DG, Chenevix-Trench G, Rahman N, Robson M, Domchek SM, Foulkes WD.
    • N Engl J Med. 2015 Jun 4;372(23):2243-2257. Epub 2015 May 27.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Excellent review paper in NEJM

    Comment / Letter

    ClinGen and Genetic Testing.

    • Germ-Line, Other Actionable Mutations Reported with Next-Generation Sequencing.
    • [No author given]
    • ASCO Daily News. 2015 ASCO Annual Meeting. 2015 Jun 1.
    • Breast cancer in women in their thirties (2007-2013): A retrospective review.
    • Arleo EK, Reichman M, Dashevsky BZ, Babagbemi K, Drotman M.
    • Breast Dis. 2015 Jun 1;35(2):87-93. doi: 10.3233/BD-150400.
    • Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway.
    • Loke J, Pearlman A, Upadhyay K, Tesfa L, Shao Y, Ostrer H.
    • Hum Mol Genet. 2015 Jun 1;24(11):3030-7. doi: 10.1093/hmg/ddv048. Epub 2015 Feb 4.
    • 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.
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    • 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.

    • Breast Cancer Risk Gene Discovery: Opportunities and Challenges.
    • Fabienne Lesueur.
    • Current Genetic Medicine Reports 3(2):8-91. 2015 Jun.
    • Review
    • Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features.
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    • Breast cancer correlates in a cohort of breast screening program participants in Riyadh, KSA.
    • Al-Amri FA, Saeedi MY, Al-Tahan FM, Ali AM, Alomary SA, Arafa M, Ibrahim AK, Kassim KA.
    • J Egypt Natl Canc Inst. 2015 Jun;27(2):77-82. doi: 10.1016/j.jnci.2015.04.002. Epub 2015 Apr 29.
    • Double PALB2 and BRCA1/BRCA2 mutation carriers are rare in breast cancer and breast-ovarian cancer syndrome families from the French Canadian founder population.
    • Ancot F, Arcand SL, Mes-Masson AM, Provencher DM, Tonin PN.
    • Oncol Lett. 2015 Jun;9(6):2787-2790. Epub 2015 Apr 20.
    • Survey on Addressing the Information and Support Needs of Jewish Women at Increased Risk for or Diagnosed with Breast Cancer: The Sharsheret Experience.
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    • New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.
    • Kluska A, Balabas A, Paziewska A, Kulecka M, Nowakowska D, Mikula M, Ostrowski J.
    • BMC Med Genomics. 2015 May 7;8:19. doi: 10.1186/s12920-015-0092-2.
    • Behind the Scenes of Breast Cancer, Researchers Collect Genetic Clues in BRCA Database.
    • [No author given]
    • GlobeNewswire. 2015 May 7.
    • New Study on 'Very Hot Topic' in BRCA Testing.
    • Roxanne Nelson.
    • Medscape Medical News. American Society of Breast Surgeons (ASBS) 16th Annual Meeting. 2015 May 4.
    • Genotype-Phenotype Correlations by Ethnicity and Mutation Location in BRCA Mutation Carriers.
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    • The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.
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    • Evaluation of the Dutch BRCA1/2 clinical genetic center referral criteria in an unselected early breast cancer population.
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    • Fertility treatments and invasive epithelial ovarian cancer risk in Jewish Israeli BRCA1 or BRCA2 mutation carriers.
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    • 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.
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    • J Appl Genet. 2015 May;56(2):193-8. doi: 10.1007/s13353-014-0254-5. Epub 2014 Nov 1.
    • Identification of a Comprehensive Spectrum of Genetic Factors for Hereditary Breast Cancer in a Chinese Population by Next-Generation Sequencing.
    • Yang X, Wu J, Lu J, Liu G, Di G, Chen C, Hou Y, Sun M, Yang W, Xu X, Zhao Y, Hu X, Li D, Cao Z, Zhou X, Huang X, Liu Z, Chen H, Gu Y, Chi Y, Yan X, Han Q, Shen Z, Shao Z, Hu Z.
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    • Letters from iceland.
    • [No authors listed]
    • Nat Genet. 2015 Apr 28;47(5):425. doi: 10.1038/ng.3277.

    Large-scale whole-genome sequencing of the Icelandic population.

    Research News

    Largest set of human genomes from a single population is sequenced.

    • BRCA Share (formerly UMD-BRCA1 mutations database) Home.
    • [No author given]
    • BRCA Share™ (formerly UMD-BRCA1 mutations database). 2015 Apr 21.
    • Familial clustering of breast and prostate cancer and risk of postmenopausal breast cancer in the Women's Health Initiative Study.
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    • Cancer. 2015 Apr 15;121(8):1265-72. doi: 10.1002/cncr.29075. Epub 2015 Mar 9.

    Press: Prostate Cancer Family History Linked to Breast Cancer Risk. (Medscape Oncology)

    • Patterns of changing cancer risks with time since diagnosis of a sibling.
    • Lee M, Czene K, Rebora P, Reilly M.
    • Int J Cancer. 2015 Apr 15;136(8):1948-56. doi: 10.1002/ijc.29239. Epub 2014 Oct 10.
    • Candidate gene analysis of BRCA1/2 mutation-negative high-risk Russian breast cancer patients.
    • Sokolenko AP, Preobrazhenskaya EV, Aleksakhina SN, Iyevleva AG, Mitiushkina NV, Zaitseva OA, Yatsuk OS, Tiurin VI, Strelkova TN, Togo AV, Imyanitov EN.
    • Cancer Lett. 2015 Apr 10;359(2):259-61. doi: 10.1016/j.canlet.2015.01.022. Epub 2015 Jan 22.
    • Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer.
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    • JAMA. 2015 Apr 7;313(13):1347-1361. doi: 10.1001/jama.2014.5985.

    News

    BRCA1 and BRCA2 mutation type associated with cancer risk.

    Research Highlight

    Genetics: Breast and ovarian cancer risk varies by BRCA mutation type.

    Press: For cancer risk, some BRCA mutations are more dangerous than others (L.A. Times)

    Blog post: Do All BRCA Mutations Come with the Same Cancer Risk? (Dana-Farber Insight)

    • Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk.
    • Judkins T, Leclair B, Bowles K, Gutin N, Trost J, McCulloch J, Bhatnagar S, Murray A, Craft J, Wardell B, Bastian M, Mitchell J, Chen J, Tran T, Williams D, Potter J, Jammulapati S, Perry M, Morris B, Roa B, Timms K.
    • BMC Cancer. 2015 Apr 2;15:215. doi: 10.1186/s12885-015-1224-y.
    • Cancer risks in Jewish male BRCA1 and BRCA2 mutation carriers.
    • Laitman Y, Keinan Boker L, Liphsitz I, Weissglas-Volkov D, Litz-Philipsborn S, Schayek H, Friedman E.
    • Breast Cancer Res Treat. 2015 Apr;150(3):631-5. doi: 10.1007/s10549-015-3340-4. Epub 2015 Mar 19.
    • The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer.
    • Villarreal-Garza C, Weitzel JN, Llacuachaqui M, Sifuentes E, Magallanes-Hoyos MC, Gallardo L, Alvarez-Gómez RM, Herzog J, Castillo D, Royer R, Akbari M, Lara-Medina F, Herrera LA, Mohar A, Narod SA.
    • Breast Cancer Res Treat. 2015 Apr;150(2):389-94. doi: 10.1007/s10549-015-3312-8. Epub 2015 Feb 26.
    • Breast Cancer Risk Associated with Estrogen Exposure and Truncating Mutation Location in BRCA1/2 Carriers.
    • Lecarpentier J, Noguès C, Mouret-Fourme E, Buecher B, Gauthier-Villars M, Stoppa-Lyonnet D, Bonadona V, Fricker JP, Berthet P, Caron O, Coupier I, Pujol P, Faivre L, Gesta P, Eisinger F, Mari V, Gladieff L, Lortholary A, Luporsi E, Leroux D, Venat-Bouvet L, Maugard CM, Colas C, Tinat J, Lasset C, Andrieu N; GENEPSO.
    • Cancer Epidemiol Biomarkers Prev. 2015 Apr;24(4):698-707. Epub 2015 Jan 22.
    • To Reflex or Not: Additional BRCA1/2 Testing in Ashkenazi Jewish Individuals Without Founder Mutations.
    • Petrucelli N, Mange S, Fulbright JL, Dohany L, Zakalik D, Duquette D.
    • J Genet Couns. 2015 Apr;24(2):285-293. Epub 2014 Sep 9.
    • Validation of an NGS Approach for Diagnostic BRCA1/BRCA2 Mutation Testing.
    • Dacheva D, Dodova R, Popov I, Goranova T, Mitkova A, Mitev V, Kaneva R.
    • Mol Diagn Ther. 2015 Apr;19(2):119-30. doi: 10.1007/s40291-015-0136-5.
    • BRCA1 and BRCA2 mutations in ethnic Lebanese Arab women with high hereditary risk breast cancer.
    • El Saghir NS, Zgheib NK, Assi HA, Khoury KE, Bidet Y, Jaber SM, Charara RN, Farhat RA, Kreidieh FY, Decousus S, Romero P, Nemer GM, Salem Z, Shamseddine A, Tfayli A, Abbas J, Jamali F, Seoud M, Armstrong DK, Bignon YJ, Uhrhammer N.
    • Oncologist. 2015 Apr;20(4):357-64. doi: 10.1634/theoncologist.2014-0364. Epub 2015 Mar 16.
    • 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.
    • Clinical and molecular characteristics of triple-negative breast cancer patients in Northern Israel: single center experience.
    • Asleh-Aburaya K, Fried G.
    • Springerplus. 2015 Mar 15;4:132. doi: 10.1186/s40064-015-0900-3. eCollection 2015.
    • Familial Risks and Estrogen Receptor-Positive Breast Cancer in Hong Kong Chinese Women.
    • Tse LA, Li M, Chan WC, Kwok CH, Leung SL, Wu C, Yu IT, Yu WC, Lao X, Wang X, Wong CK, Lee PM, Wang F, Yang XR.
    • PLoS One. 2015 Mar 10;10(3):e0120741. doi: 10.1371/journal.pone.0120741.
    • Prevalence of BRCA1 mutations and responses to neoadjuvant chemotherapy among BRCA1 carriers and non-carriers with triple-negative breast cancer.
    • Wang C, Zhang J, Wang Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
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    • Disparities in breast cancer and african ancestry: a global perspective.
    • Newman LA.
    • Breast J. 2015 Mar;21(2):133-9. doi: 10.1111/tbj.12369. Epub 2015 Jan 9.
    • Review
    • Recurrent BRCA1 and BRCA2 Mutations in Mexican Women with Breast Cancer.
    • Torres-Mejía G, Royer R, Llacuachaqui M, Akbari MR, Giuliano AR, Martínez-Matsushita L, Angeles-Llerenas A, Ortega-Olvera C, Ziv E, Lazcano-Ponce E, Phelan CM, Narod SA.
    • Cancer Epidemiol Biomarkers Prev. 2015 Mar;24(3):498-505. doi: 10.1158/1055-9965.EPI-13-0980. Epub 2014 Nov 4.
    • Recurrent mutations of BRCA1 and BRCA2 in Poland: an update.
    • Szwiec M, Jakubowska A, Górski B, Huzarski T, Tomiczek-Szwiec J, Gronwald J, Dębniak T, Byrski T, Kluźniak W, Wokołorczyk D, Birkenfeld B, Akbari MR, Narod SA, Lubiński J, Cybulski C.
    • Clin Genet. 2015 Mar;87(3):288-292. doi: 10.1111/cge.12360. Epub 2014 Mar 12.
    • Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing.
    • Guan Y, Hu H, Peng Y, Gong Y, Yi Y, Shao L, Liu T, Li G, Wang R, Dai P, Bignon YJ, Xiao Z, Yang L, Mu F, Xiao L, Xie Z, Yan W, Xu N, Zhou D, Yi X.
    • Fam Cancer. 2015 Mar;14(1):9-18. doi: 10.1007/s10689-014-9749-9.
    • Estimate of the penetrance of BRCA mutation and the COS software for the assessment of BRCA mutation probability.
    • Berrino J, Berrino F, Francisci S, Peissel B, Azzollini J, Pensotti V, Radice P, Pasanisi P, Manoukian S.
    • Fam Cancer. 2015 Mar;14(1):117-28. doi: 10.1007/s10689-014-9766-8.
    • BRCA1 and BRCA2 mutations in Iranian breast cancer patients: A systematic review.
    • Neamatzadeh H, Shiryazdi SM, Kalantar SM.
    • J Res Med Sci. 2015 Mar;20(3):284-93.
    • Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing.
    • Hirotsu Y, Nakagomi H, Sakamoto I, Amemiya K, Mochizuki H, Omata M.
    • Mol Genet Genomic Med. 2015 Mar;3(2):121-9. doi: 10.1002/mgg3.120. Epub 2014 Dec 4.
    • Screening of exon 11 of BRCA1 gene using the high resolution melting approach for diagnosis in Moroccan breast cancer patients.
    • El Khachibi M, Diakite B, Hamzi K, Badou A, Senhaji MA, Bakhchane A, Jouhadi H, Barakat A, Benider A, Nadifi S.
    • BMC Cancer. 2015 Feb 25;15:81. doi: 10.1186/s12885-015-1040-4.
    • Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico.
    • Villarreal-Garza C, Alvarez-Gómez RM, Pérez-Plasencia C, Herrera LA, Herzog J, Castillo D, Mohar A, Castro C, Gallardo LN, Gallardo D, Santibáñez M, Blazer KR, Weitzel JN.
    • Cancer. 2015 Feb 1;121(3):372-8. doi: 10.1002/cncr.29058. Epub 2014 Sep 18.
    • DNA repair mutations and outcomes in ovarian cancer--letter.
    • Soslow RA.
    • Clin Cancer Res. 2015 Feb 1;21(3):658. doi: 10.1158/1078-0432.CCR-14-2436.

    Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.

    Comment / Letter

    DNA repair mutations and outcomes in ovarian cancer--response.

    • 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)

    • Genotype/Phenotype correlations in patients with hereditary breast cancer.
    • Wittersheim M, Büttner R, Markiefka B.
    • Breast Care (Basel). 2015 Feb;10(1):22-6. doi: 10.1159/000380900.
    • Mutation spectrum and prevalence of BRCA1 and BRCA2 genes in patients with familial and early-onset breast/ovarian cancer from Tunisia.
    • Riahi A, Kharrat M, Ghourabi ME, Khomsi F, Gamoudi A, Lariani I, May AE, Rahal K, Chaabouni-Bouhamed H.
    • Clin Genet. 2015 Feb;87(2):155-60. doi: 10.1111/cge.12337. Epub 2014 Feb 23.
    • Genetic risk assessment for breast and gynecological malignancies.
    • Profato JL, Arun BK.
    • Curr Opin Obstet Gynecol. 2015 Feb;27(1):1-5. doi: 10.1097/GCO.0000000000000142.
    • Review
    • Characterization of familial breast cancer in Saudi Arabia.
    • Merdad A, Gari MA, Hussein S, Al-Khayat S, Tashkandi H, Al-Maghrabi J, Al-Thubaiti F, Hussein IR, Koumosani T, Shaer N, Chaudhary AG, Abuzenadah AM, Al-Qahtani MH, Dallol A.
    • BMC Genomics. 2015;16 Suppl 1:S3. doi: 10.1186/1471-2164-16-S1-S3. Epub 2015 Jan 15.
    • Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
    • Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman A.
    • Cancer. 2015 Jan 1;121(1):25-33. doi: 10.1002/cncr.29010. Epub 2014 Sep 3.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Slides/Data from NSGC

    • Considerations for comprehensive assessment of genetic predisposition in familial breast cancer.
    • Lynch H, Synder C, Wang SM.
    • Breast J. 2015 Jan-Feb;21(1):67-75. doi: 10.1111/tbj.12358. Epub 2014 Dec 4.
    • Review
    • Inherited predisposition to breast cancer among African American women.
    • Churpek JE, Walsh T, Zheng Y, Moton Z, Thornton AM, Lee MK, Casadei S, Watts A, Neistadt B, Churpek MM, Huo D, Zvosec C, Liu F, Niu Q, Marquez R, Zhang J, Fackenthal J, King MC, Olopade OI.
    • Breast Cancer Res Treat. 2015 Jan;149(1):31-9. doi: 10.1007/s10549-014-3195-0. Epub 2014 Nov 27.
    • Incidence of BRCA1 and BRCA2 non-founder mutations in patients of Ashkenazi Jewish ancestry.
    • Rosenthal E, Moyes K, Arnell C, Evans B, Wenstrup RJ.
    • Breast Cancer Res Treat. 2015 Jan;149(1):223-7. doi: 10.1007/s10549-014-3218-x. Epub 2014 Dec 6.
    • Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
    • Foley SB, Rios JJ, Mgbemena VE, Robinson LS, Hampel HL, Toland AE, Durham L, Ross TS.
    • EBioMedicine. 2015 Jan;2(1):74-81.
    • Breast Cancer Susceptibility Genes.
    • Apostolou P, Vratimos A, Fostira F.
    • eLS. 2015 Jan. doi: 10.1002/9780470015902.a0025847.
    • Review
    • Molecular testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations: a report on the College of American Pathologists proficiency testing surveys.
    • Tafe LJ, Datto MB, Palomaki GE, Lacbawan FL.
    • Genet Med. 2015 Jan;17(1):58-62. doi: 10.1038/gim.2014.77. Epub 2014 Jun 19.
    • Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial.
    • Manchanda R, Loggenberg K, Sanderson S, Burnell M, Wardle J, Gessler S, Side L, Balogun N, Desai R, Kumar A, Dorkins H, Wallis Y, Chapman C, Taylor R, Jacobs C, Tomlinson I, McGuire A, Beller U, Menon U, Jacobs I.
    • J Natl Cancer Inst. 2014 Nov 30;107(1):379. doi: 10.1093/jnci/dju379. Print 2015 Jan.

    Press: Current way of detecting gene mutations misses people at high risk of cancer. (Medical Xpress)

    Press: 'Screen more' for cancer risk genes. (BBC Health)

    Press: Population Genetic Testing Favored for BRCA1/BRCA2 Mutations in Ashkenazi-Jewish Women. (Medscape / Reuters Health)

    • Cost-effectiveness of population screening for BRCA mutations in Ashkenazi jewish women compared with family history-based testing.
    • Manchanda R, Legood R, Burnell M, McGuire A, Raikou M, Loggenberg K, Wardle J, Sanderson S, Gessler S, Side L, Balogun N, Desai R, Kumar A, Dorkins H, Wallis Y, Chapman C, Taylor R, Jacobs C, Tomlinson I, Beller U, Menon U, Jacobs I.
    • J Natl Cancer Inst. 2014 Nov 30;107(1):380. doi: 10.1093/jnci/dju380. Print 2015 Jan.

    Press: Current way of detecting gene mutations misses people at high risk of cancer. (Medical Xpress)

    Press: Population Genetic Testing Favored for BRCA1/BRCA2 Mutations in Ashkenazi-Jewish Women. (Medscape / Reuters Health)

    • The functional BRCA1 rs799917 genetic polymorphism is associated with gastric cancer risk in a Chinese Han population.
    • Wang K, Xu L, Pan L, Xu K, Li G.
    • Tumour Biol. 2015 Jan;36(1):393-7. doi: 10.1007/s13277-014-2655-9. Epub 2014 Sep 30.
    • Absence of 185delAG and 6174delT Mutations among Breast Cancer Patients of Eastern India.
    • Chakraborty A, Banerjee D, Basak J, Mukhopadhyay A.
    • Asian Pac J Cancer Prev. 2015;16(17):7929-33.
    • Targeted Resequencing of 30 Genes Improves the Detection of Deleterious Mutations in South Indian Women with Breast and/or Ovarian Cancers.
    • Rajkumar T, Meenakumari B, Mani S, Sridevi V, Sundersingh S.
    • Asian Pac J Cancer Prev. 2015;16(13):5211-7.
    • The spectrum of genetic mutations in breast cancer.
    • Sheikh A, Hussain SA, Ghori Q, Naeem N, Fazil A, Giri S, Sathian B, Mainali P, Al Tamimi DM.
    • Asian Pac J Cancer Prev. 2015;16(6):2177-85.
    • BRCA1 and BRCA2 common mutations in iranian breast cancer patients: a meta analysis.
    • Forat-Yazdi M, Neamatzadeh H, Sheikhha MH, Zare-Shehneh M, Fattahi M.
    • Asian Pac J Cancer Prev. 2015;16(3):1219-24.
    • Androgen receptor, EGFR, and BRCA1 as biomarkers in triple-negative breast cancer: a meta-analysis.
    • Zhang L, Fang C, Xu X, Li A, Cai Q, Long X.
    • Biomed Res Int. 2015;2015:357485. doi: 10.1155/2015/357485. Epub 2015 Jan 28.
    • BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African.
    • Laraqui A, Uhrhammer N, Rhaffouli HE, Sekhsokh Y, Lahlou-Amine I, Bajjou T, Hilali F, El Baghdadi J, Al Bouzidi A, Bakri Y, Amzazi S, Bignon YJ.
    • Dis Markers. 2015;2015:194293. doi: 10.1155/2015/194293. Epub 2015 Feb 28.
    • BRCA1 5382insC founder mutation has not a significative recurrent presence in Northeastern Romanian cancer patients.
    • Negură L, Duşa CP, Balmuş MI, Azoicăi D, Negură AM, Marinca MV, Miron L.
    • Rom J Morphol Embryol. 2015;56(2):379-85.
    • Clinical and pathological characteristics of Hispanic BRCA-associated breast cancers in the American-Mexican border city of El Paso, TX.
    • Nahleh Z, Otoukesh S, Dwivedi AK, Mallawaarachchi I, Sanchez L, Saldivar JS, Cataneda K, Heydarian R.
    • Am J Cancer Res. 2014 Dec 15;5(1):466-71. eCollection 2015.
    • Family history of breast and ovarian cancer and triple negative subtype in hispanic/latina women.
    • Anderson K, Thompson PA, Wertheim BC, Martin L, Komenaka IK, Bondy M, Daneri-Navarro A, Meza-Montenegro MM, Gutierrez-Millan LE, Brewster A, Madlensky L, Tobias M, Natarajan L, Martínez ME.
    • Springerplus. 2014 Dec 11;3:727. doi: 10.1186/2193-1801-3-727. eCollection 2014.
    • Novel and recurrent BRCA2 mutations in Italian breast/ovarian cancer families widen the ovarian cancer cluster region boundaries to exons 13 and 14.
    • Coppa A, Buffone A, Capalbo C, Nicolussi A, D'Inzeo S, Belardinilli F, Colicchia V, Petroni M, Granato T, Midulla C, Zani M, Ferraro S, Screpanti I, Gulino A, Giannini G.
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    • High-resolution melting (HRM) assay for the detection of recurrent BRCA1/BRCA2 germline mutations in Tunisian breast/ovarian cancer families.
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    • Breast cancer genes: looking for BRACA's lost brother.
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    • Screening for common mutations in BRCA1 and BRCA2 genes: interest in genetic testing of Tunisian families with breast and/or ovarian cancer.
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    • Issues of concern in risk assessment, genetic counseling, and genetic testing of younger breast cancer patients in Japan.
    • Bando H.
    • Breast Cancer. 2014 Nov;21(6):656-63. doi: 10.1007/s12282-013-0477-z. Epub 2013 Jun 11.
    • Variation in Mutation Spectrum Partly Explains Regional Differences in the Breast Cancer Risk of Female BRCA Mutation Carriers in the Netherlands.
    • Vos JR, Teixeira N, van der Kolk DM, Mourits MJ, Rookus MA, van Leeuwen FE, Collée M, van Asperen CJ, Mensenkamp AR, Ausems MG, van Os TA, Meijers-Heijboer HE, Gómez-Garcia EB, Vasen HF, Brohet RM; Hereditary Breast and Ovarian Cancer Research Group Netherlands, van der Hout AH, Jansen L, Oosterwijk JC, de Bock GH.
    • Cancer Epidemiol Biomarkers Prev. 2014 Nov;23(11):2482-91. doi: 10.1158/1055-9965.EPI-13-1279. Epub 2014 Aug 7.
    • Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
    • Castéra L, Krieger S, Rousselin A, Legros A, Baumann JJ, Bruet O, Brault B, Fouillet R, Goardon N, Letac O, Baert-Desurmont S, Tinat J, Bera O, Dugast C, Berthet P, Polycarpe F, Layet V, Hardouin A, Frébourg T, Vaur D.
    • Eur J Hum Genet. 2014 Nov;22(11):1305-13. doi: 10.1038/ejhg.2014.16. Epub 2014 Feb 19.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: RAD50 Positive Letter

    • Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population.
    • Felix GE, Abe-Sandes C, Machado-Lopes TM, Bomfim TF, Guindalini RS, Santos VC, Meyer L, Oliveira PC, Cláudio Neiva J, Meyer R, Romeo M, Betânia Toralles M, Nascimento I, Abe-Sandes K.
    • Hum Genome Var. 2014 Oct 16;1:14012. doi: 10.1038/hgv.2014.12. eCollection 2014.
    • Pedigree studies and evaluation of risk factors of breast cancer in Goa.
    • Fernandes NV, Pinto S, Dias P, Kolwalkar D, Chipkar T.
    • Indian J Cancer. 2014 Oct-Dec;51(4):600-3. doi: 10.4103/0019-509X.175300.
    • BRCA1/2 germline mutations and their clinical importance in Turkish breast cancer patients.
    • Cecener G, Egeli U, Tunca B, Erturk E, Ak S, Gokgoz S, Tasdelen I, Tezcan G, Demirdogen E, Bayram N, Avci N, Evrensel T.
    • Cancer Invest. 2014 Oct;32(8):375-87. doi: 10.3109/07357907.2014.919302. Epub 2014 Jun 2.
    • 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.
    • Breast cancer incidence rates among orthodox Jewish women.
    • Tkatch R, Schwartz K, Shore RD, Penner LA, Simon MS, Albrecht TL.
    • J Immigr Minor Health. 2014 Oct;16(5):1007-10. doi: 10.1007/s10903-013-9822-8.
    • Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2.
    • Gabai-Kapara E, Lahad A, Kaufman B, Friedman E, Segev S, Renbaum P, Beeri R, Gal M, Grinshpun-Cohen J, Djemal K, Mandell JB, Lee MK, Beller U, Catane R, King MC, Levy-Lahad E.
    • Proc Natl Acad Sci U S A. 2014 Sep 30;111(39):14205-10. doi: 10.1073/pnas.1415979111. Epub 2014 Sep 5.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Population screening for BRCA1/2

    • Breast cancer in women younger than 30 years: prevalence rate and imaging findings in a symptomatic population.
    • Makanjuola D, Alkushi A, Alzaid M, Abukhair O, Al Tahan F, Alhadab A.
    • Pan Afr Med J. 2014 Sep 16;19:35. doi: 10.11604/pamj.2014.19.35.2849. eCollection 2014.
    • Risk of breast cancer and family history of other cancers in first-degree relatives in Chinese women: a case control study.
    • Zhou W, Ding Q, Pan H, Wu N, Liang M, Huang Y, Chen L, Zha X, Liu X, Wang S.
    • BMC Cancer. 2014 Sep 11;14:662. doi: 10.1186/1471-2407-14-662.
    • A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients.
    • Seong MW, Cho SI, Kim KH, Chung IY, Kang E, Lee JW, Park SK, Lee MH, Choi DH, Yom CK, Noh WC, Chang MC, Park SS, Kim SW; Korean Hereditary Breast Cancer Study Group.
    • BMC Cancer. 2014 Sep 1;14:645. doi: 10.1186/1471-2407-14-645.
    • 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]
    • Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian cancer syndrome who share a common ancestry.
    • Gabaldó Barrios X, Sarabia Meseguer MD, Alonso Romero JL, Marín Vera M, Marín Zafra G, Sánchez Henarejos P, Sánchez Bermúdez AI, Ruiz Espejo F.
    • Fam Cancer. 2014 Sep;13(3):431-5. doi: 10.1007/s10689-014-9708-5.
    • Case report
    • BRCA1 point mutations in premenopausal breast cancer patients from Central Sudan.
    • Biunno I, Aceto G, Awadelkarim KD, Morgano A, Elhaj A, Eltayeb EA, Abuidris DO, Elwali NE, Spinelli C, De Blasio P, Rovida E, Mariani-Costantini R.
    • Fam Cancer. 2014 Sep;13(3):437-44. doi: 10.1007/s10689-014-9717-4.
    • Genetic/Familial high-risk assessment: breast and ovarian, version 1.2014.
    • Daly MB, Pilarski R, Axilbund JE, Buys SS, Crawford B, Friedman S, Garber JE, Horton C, Kaklamani V, Klein C, Kohlmann W, Kurian A, Litton J, Madlensky L, Marcom PK, Merajver SD, Offit K, Pal T, Pasche B, Reiser G, Shannon KM, Swisher E, Voian NC, Weitzel JN, Whelan A, Wiesner GL, Dwyer MA, Kumar R.
    • J Natl Compr Canc Netw. 2014 Sep;12(9):1326-38.
    • Practice Guideline, NCCN Guidelines
    • Prevalence of BRCA1 gene mutation in breast cancer patients in Guangxi, China.
    • Sun L, Liu J, Wang S, Chen Y, Li Z.
    • Int J Clin Exp Pathol. 2014 Aug 15;7(9):6262-9. 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.
    • Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.
    • Kurian AW, Hare EE, Mills MA, Kingham KE, McPherson L, Whittemore AS, McGuire V, Ladabaum U, Kobayashi Y, Lincoln SE, Cargill M, Ford JM.
    • J Clin Oncol. 2014 Jul 1;32(19):2001-9. doi: 10.1200/JCO.2013.53.6607. Epub 2014 Apr 14.

    Comment, Editorial:

    Multigene panel testing: planning the next generation of research studies in clinical cancer genetics.

    Press: Multiple-Gene Sequencing Panel Assesses Hereditary Cancer Risk. (Medscape/Reuters)

    Press: Study Supports Clinical Utility of Gene Panel Sequencing Approach. (GenomeWeb)

    Blog post: Gene panel screens dozens of genes for cancer-associated mutations. (ScienceBlog)

    • 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.
    • Family history of cancer associated with breast tumor clinicopathological features.
    • Ricks LJ, Ewing A, Thompson N, Harrison B, Wilson B, Richardson F, Carter-Nolan P, Spencer C, Laiyemo A, Williams C.
    • J Community Genet. 2014 Jul;5(3):233-40. doi: 10.1007/s12687-013-0180-y. Epub 2014 Jan 15.
    • Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
    • Wang Y, McKay JD, Rafnar T, Wang Z, Timofeeva MN, Broderick P, Zong X, Laplana M, Wei Y, Han Y, Lloyd A, Delahaye-Sourdeix M, Chubb D, Gaborieau V, Wheeler W, Chatterjee N, Thorleifsson G, Sulem P, Liu G, Kaaks R, Henrion M, Kinnersley B, Vallée M, LeCalvez-Kelm F, Stevens VL, Gapstur SM, Chen WV, Zaridze D, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Mates D, Bencko V, Foretova L, Janout V, Krokan HE, Gabrielsen ME, Skorpen F, Vatten L, Njølstad I, Chen C, Goodman G, Benhamou S, Vooder T, Välk K, Nelis M, Metspalu A, Lener M, Lubiński J, Johansson M, Vineis P, Agudo A, Clavel-Chapelon F, Bueno-de-Mesquita HB, Trichopoulos D, Khaw KT, Johansson M, Weiderpass E, Tjønneland A, Riboli E, Lathrop M, Scelo G, Albanes D, Caporaso NE, Ye Y, Gu J, Wu X, Spitz MR, Dienemann H, Rosenberger A, Su L, Matakidou A, Eisen T, Stefansson K, Risch A, Chanock SJ, Christiani DC, Hung RJ, Brennan P, Landi MT, Houlston RS, Amos CI.
    • Nat Genet. 2014 Jul;46(7):736-41. doi: 10.1038/ng.3002. Epub 2014 Jun 1.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA2 increased risk for lung cancer?

    Subject: BRCA2 testing for lung cancer?

    News

    BRCA2 Mutation Linked to Lung Cancer Risk.

    Research News

    Smokers with gene defect have higher risk of developing lung cancer.

    Press: BRCA2 gene mutations linked to lung cancer risk in smokers (PHG Foundation)

    Press: BRCA2 Variant Linked to Lung Cancer Risk. (Medscape Oncology)

    • The prevalence of BRCA1/2 mutations of triple-negative breast cancer patients in Xinjiang multiple ethnic region of China.
    • Li YT, Ni D, Yang L, Zhao Q, Ou JH.
    • Eur J Med Res. 2014 Jun 25;19(1):35. doi: 10.1186/2047-783X-19-35.
    • Analysis of BRCA1and BRCA2 large genomic rearrangements in Sri Lankan familial breast cancer patients and at risk individuals.
    • De Silva S, Tennekoon KH, Karunanayake EH, Amarasinghe I, Angunawela P.
    • BMC Res Notes. 2014 Jun 6;7:344. doi: 10.1186/1756-0500-7-344.
    • Incorporating genetic testing ancestry results into medical decisions.
    • Farrell RM, Pederson H, Padia S.
    • Virtual Mentor. 2014 Jun 1;16(6):428-33. doi: 10.1001/virtualmentor.2014.16.06.ecas2-1406.
    • Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer.
    • Guaoua S, Ratbi I, Lyahyai J, El Alaoui SC, Laarabi FZ, Sefiani A.
    • Afr Health Sci. 2014 Jun;14(2):468-71. doi: 10.4314/ahs.v14i2.25.
    • Assessment of individuals with BRCA1 and BRCA2 large rearrangements in high-risk breast and ovarian cancer families.
    • Arnold AG, Otegbeye E, Fleischut MH, Glogowski EA, Siegel B, Boyar SR, Salo-Mullen E, Amoroso K, Sheehan M, Berliner JL, Stadler ZK, Kauff ND, Offit K, Robson ME, Zhang L.
    • Breast Cancer Res Treat. 2014 Jun;145(3):625-34. doi: 10.1007/s10549-014-2987-6. Epub 2014 May 14.
    • Double heterozygotes among breast cancer patients analyzed for BRCA1, CHEK2, ATM, NBN/NBS1, and BLM germ-line mutations.
    • Sokolenko AP, Bogdanova N, Kluzniak W, Preobrazhenskaya EV, Kuligina ES, Iyevleva AG, Aleksakhina SN, Mitiushkina NV, Gorodnova TV, Bessonov AA, Togo AV, Lubiński J, Cybulski C, Jakubowska A, Dörk T, Imyanitov EN.
    • Breast Cancer Res Treat. 2014 Jun;145(2):553-62. doi: 10.1007/s10549-014-2971-1. Epub 2014 May 7.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA and CHEK2

    Subject: Dbl heterzygote article

    • Analysis of novel mutations in BRCA1 in Iranian families with breast cancer.
    • Sadr-Nabavi A, Dastpak M, Homaei-Shandiz F, Bahrami AR, Bidkhori HR, Raeesolmohaddeseen M.
    • Hereditas. 2014 Jun;151(2-3):38-42. doi: 10.1111/hrd2.00040.
    • Familial breast cancer genetic testing in the West of Ireland.
    • McVeigh TP, Irwin R, Cody N, Miller N, McDevitt T, Sweeney KJ, Green A, Kerin MJ.
    • Ir J Med Sci. 2014 Jun;183(2):199-206. doi: 10.1007/s11845-013-0990-2. Epub 2013 Jul 26.
    • Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.
    • Silva FC, Lisboa BC, Figueiredo MC, Torrezan GT, Santos EM, Krepischi AC, Rossi BM, Achatz MI, Carraro DM.
    • BMC Med Genet. 2014 May 15;15:55. doi: 10.1186/1471-2350-15-55.
    • 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.
    • High prevalence of GPRC5A germline mutations in BRCA1-mutant breast cancer patients.
    • Sokolenko AP, Bulanova DR, Iyevleva AG, Aleksakhina SN, Preobrazhenskaya EV, Ivantsov AO, Kuligina ESh, Mitiushkina NV, Suspitsin EN, Yanus GA, Zaitseva OA, Yatsuk OS, Togo AV, Kota P, Dixon JM, Larionov AA, Kuznetsov SG, Imyanitov EN.
    • Int J Cancer. 2014 May 15;134(10):2352-8. doi: 10.1002/ijc.28569. Epub 2014 Jan 27.
    • Comprehensive BRCA1 and BRCA2 mutational profile in Lithuania.
    • Janavičius R, Rudaitis V, Mickys U, Elsakov P, Griškevičius L.
    • Cancer Genet. 2014 May;207(5):195-205. doi: 10.1016/j.cancergen.2014.05.002. Epub 2014 May 10.
    • 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.
    • Next-generation sequencing of BRCA1 and BRCA2 in breast cancer patients and control subjects.
    • Balabanski L, Antov G, Dimova I, Ivanov S, Nacheva M, Gavrilov I, Nesheva D, Rukova B, Hadjidekova S, Malinov M, Toncheva D.
    • Mol Clin Oncol. 2014 May;2(3):435-439. Epub 2014 Feb 4.
    • Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from medellín, Colombia.
    • Hernández JE, Llacuachaqui M, Palacio GV, Figueroa JD, Madrid J, Lema M, Royer R, Li S, Larson G, Weitzel JN, Narod SA.
    • Hered Cancer Clin Pract. 2014 Apr 17;12(1):11. doi: 10.1186/1897-4287-12-11. eCollection 2014.
    • Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
    • Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.
    • PLoS One. 2014 Apr 11;9(4):e94554. doi: 10.1371/journal.pone.0094554. eCollection 2014.
    • Growing recognition of the role for rare missense substitutions in breast cancer susceptibility.
    • Tavtigian SV, Chenevix-Trench G.
    • Biomark Med. [2014 Apr;];8(4):589-603. doi: 10.2217/bmm.13.143.
    • Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history.
    • Kang PC, Phuah SY, Sivanandan K, Kang IN, Thirthagiri E, Liu JJ, Hassan N, Yoon SY, Thong MK, Hui M, Hartman M, Yip CH, Mohd Taib NA, Teo SH.
    • Breast Cancer Res Treat. 2014 Apr;144(3):635-42. doi: 10.1007/s10549-014-2894-x. Epub 2014 Mar 1.
    • Genetic anticipation of familial breast cancer with or without BRCA mutation in the Korean population.
    • Noh JM, Choi DH, Baek H, Kim MJ, Park H, Huh SJ, Park W, Nam SJ, Lee JE, Kil WH, Haffty BG.
    • Cancer Genet. 2014 Apr;207(4):160-3. doi: 10.1016/j.cancergen.2014.04.002. Epub 2014 Apr 12.
    • Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model.
    • Tarabeux J, Zeitouni B, Moncoutier V, Tenreiro H, Abidallah K, Lair S, Legoix-Né P, Leroy Q, Rouleau E, Golmard L, Barillot E, Stern MH, Rio-Frio T, Stoppa-Lyonnet D, Houdayer C.
    • Eur J Hum Genet. 2014 Apr;22(4):535-41. doi: 10.1038/ejhg.2013.181. Epub 2013 Aug 14.
    • BRCA sequencing and large rearrangement testing in young Black women with breast cancer.
    • Pal T, Bonner D, Cragun D, Johnson S, Akbari M, Servais L, Narod S, Vadaparampil S.
    • J Community Genet. 2014 Apr;5(2):157-65. doi: 10.1007/s12687-013-0166-9. Epub 2013 Aug 29.
    • 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.
    • Polymorphisms in phase I and phase II genes and breast cancer risk and relations to persistent organic pollutant exposure: a case-control study in Inuit women.
    • Ghisari M, Eiberg H, Long M, Bonefeld-Jørgensen EC.
    • Environ Health. 2014 Mar 16;13(1):19. doi: 10.1186/1476-069X-13-19.
    • [Genotyping of BRCA1, BRCA2 and CHEK2 germline mutations in Russian breast cancer patients using diagnostic biochips].
    • [No authors listed]
    • Mol Biol (Mosk). 2014 Mar-Apr;48(2):243-50.
    • [Article in Russian]
    • BRCA1 gene-related hereditary susceptibility to breast and ovarian cancer in Latvia.
    • Tihomirova L, Vaivade I, Fokina O, Peculis R, Mandrika I, Sinicka O, Stengrevics A, Krilova A, Keire G, Petrevics J, Eglitis J, Timofejevs M, Leja M.
    • Adv Med Sci. 2014 Mar;59(1):114-9. doi: 10.1016/j.advms.2013.09.002. Epub 2014 Mar 20.
    • A collaborative study of the etiology of breast cancer subtypes in African American women: the AMBER consortium.
    • Palmer JR, Ambrosone CB, Olshan AF.
    • Cancer Causes Control. 2014 Mar;25(3):309-19. doi: 10.1007/s10552-013-0332-8. Epub 2013 Dec 17.
    • 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.
    • Prevalence and impact of founder mutations in hereditary breast cancer in Latin America.
    • Ashton-Prolla P, Vargas FR.
    • Genet Mol Biol. 2014 Mar;37(1 Suppl):234-40.
    • 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.
    • Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.
    • Caleca L, Putignano AL, Colombo M, Congregati C, Sarkar M, Magliery TJ, Ripamonti CB, Foglia C, Peissel B, Zaffaroni D, Manoukian S, Tondini C, Barile M, Pensotti V, Bernard L, Papi L, Radice P.
    • PLoS One. 2014 Feb 6;9(2):e86924. doi: 10.1371/journal.pone.0086924. eCollection 2014.
    • Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.
    • Pennington KP, Walsh T, Harrell MI, Lee MK, Pennil CC, Rendi MH, Thornton A, Norquist BM, Casadei S, Nord AS, Agnew KJ, Pritchard CC, Scroggins S, Garcia RL, King MC, Swisher EM.
    • Clin Cancer Res. 2014 Feb 1;20(3):764-75. doi: 10.1158/1078-0432.CCR-13-2287. Epub 2013 Nov 15.

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: PALB2 and Ovarian Cancer

    Comment, Letter

    DNA repair mutations and outcomes in ovarian cancer--letter.

    Reply, Letter

    DNA repair mutations and outcomes in ovarian cancer--response.

    • Detection of new point mutations of BRCA1 and BRCA2 in breast cancer patients.
    • Bensam M, Hafez E, Awad D, El-Saadani M, Balbaa M.
    • Biochem Genet. 2014 Feb;52(1-2):15-28. doi: 10.1007/s10528-013-9623-8. Epub 2013 Jul 23.
    • 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.
    • Minor role of BRCA2 mutation (Exon2 and Exon11) in patients with early-onset breast cancer amongst Iranian Azeri-Turkish women.
    • Karimian Fathi N, Shekari Khaniani M, Montazeri V, Mansoori Derakhshan S.
    • Iran J Basic Med Sci. 2014 Feb;17(2):108-11.
    • 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

    • Mutational analysis of the BRCA2 gene in breast carcinoma patients of Kashmiri descent.
    • Ayub SG, Rasool S, Ayub T, Khan SN, Wani KA, Andrabi KI.
    • Mol Med Rep. 2014 Feb;9(2):749-53. doi: 10.3892/mmr.2013.1862. Epub 2013 Dec 13.
    • Risk assessment of multistate progression of breast tumor with state-dependent genetic and environmental covariates.
    • Wu YY, Yen MF, Yu CP, Chen HH.
    • Risk Anal. 2014 Feb;34(2):367-79. doi: 10.1111/risa.12116. Epub 2013 Sep 23.
    • Specific BRCA1 gene variations amongst young Moroccan breast cancer patients.
    • Tazzite A, Nadiffi S, Kottwitz D, El Amrani M, Jouhadi H, Benider A, Moumen A, Sefrioui H.
    • Genet Mol Res. 2014 Jan 31;13(1):791-8. doi: 10.4238/2014.January.31.5.
    • 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.
    • Triple-negative breast carcinoma in African American and Caucasian women: clinicopathology, immunomarkers, and outcome.
    • Sullivan HC, Oprea-Ilies G, Adams AL, Page AJ, Kim S, Wang J, Cohen C.
    • Appl Immunohistochem Mol Morphol. 2014 Jan;22(1):17-23. doi: 10.1097/PAI.0b013e318281148e.
    • Screening for BRCA1 and BRCA2 mutations among French-Canadian breast cancer cases attending an outpatient clinic in Montreal.
    • Ghadirian P, Robidoux A, Nassif E, Martin G, Potvin C, Patocskai E, Younan R, Larouche N, Venne A, Zhang S, Royer R, Narod S.
    • Clin Genet. 2014 Jan;85(1):31-5. doi: 10.1111/cge.12174. Epub 2013 Jun 5.
    • High prevalence of BRCA1 founder mutations in Greek breast/ovarian families.
    • Konstantopoulou I, Tsitlaidou M, Fostira F, Pertesi M, Stavropoulou AV, Triantafyllidou O, Tsotra E, Tsiftsoglou A, Tsionou C, Droufakou S, Dimitrakakis C, Fountzilas G, Yannoukakos D.
    • Clin Genet. 2014 Jan;85(1):36-42. doi: 10.1111/cge.12274. Epub 2013 Oct 20.
    • Geographical distribution of Slovenian BRCA1/2 families according to family origin: implications for genetic screening.
    • Krajc M, Zadnik V, Novaković S, Stegel V, Teugels E, Bešič N, Hočevar M, Vakselj A, De Grève J, Zgajnar J.
    • Clin Genet. 2014 Jan;85(1):59-63. doi: 10.1111/cge.12119. Epub 2013 Mar 11.
    • The spectrum of BRCA1 and BRCA2 mutations in breast cancer patients in the Bahamas.
    • Akbari M, Donenberg T, Lunn J, Curling D, Turnquest T, Krill-Jackson E, Zhang S, Narod S, Hurley J.
    • Clin Genet. 2014 Jan;85(1):64-7. doi: 10.1111/cge.12132. Epub 2013 Apr 5.
    • Rates of risk-reducing surgery in Israeli BRCA1 and BRCA2 mutation carriers.
    • Laitman Y, Vaisman Y, Feldman D, Helpman L, Gitly M, Paluch Shimon S, Berger R, Cohen L, Narod S, Friedman E.
    • Clin Genet. 2014 Jan;85(1):68-71. doi: 10.1111/cge.12149. Epub 2013 Apr 9.
    • Prognostic role of BRCA1 mutation in patients with triple-negative breast cancer.
    • Maksimenko J, Irmejs A, Nakazawa-Miklasevica M, Melbarde-Gorkusa I, Trofimovics G, Gardovskis J, Miklasevics E.
    • Oncol Lett. 2014 Jan;7(1):278-284. Epub 2013 Nov 14.
    • BRCA1 gene exon 11 mutations in Uighur and Han women with early-onset sporadic breast cancer in the northwest region of China.
    • Cao YW, Fu XG, Wan GX, Yu SY, Cui XB, Li L, Jiang JF, Zheng YQ, Zhang WJ, Li F.
    • Asian Pac J Cancer Prev. 2014;15(11):4513-8.
    • Family history attributes and risk factors for breast cancer in Turkey.
    • Gokdemir-Yazar O, Yaprak S, Colak M, Yildirim E, Guldal D.
    • Asian Pac J Cancer Prev. 2014;15(6):2841-6.
    • Mapping Jewish Identities: Migratory Histories and the Transnational Re-Framing of ‘Ashkenazi BRCA Mutations’ in the UK and Brazil.
    • Mozersky J, Gibbon S.
    • In: Breast Cancer Gene Research and Medical Practices: Transnational Perspectives in the Time of BRCA. Oxon (UK): Routledge; 2014. Gibbon S, Joseph G, Mozersky J, zur Nieden A, Palfner S, editors. Wellcome Trust–Funded Monographs and Book Chapters.
    • 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.
    • [Ethnic aspects of hereditary breast cancer in the region of Siberia].
    • Cherdyntseva NV, Pisareva LF, Ivanova AA, Panferova YV, Malinovskaya EA, Odintsova IN, Doroshenko AV, Gervas PA, Slonimskaya EM, Shivit-ool AA, Dvornichenko VV, Choinzonov YL.
    • Vestn Ross Akad Med Nauk. 2014;(11-12):72-9.
    • [Article in Russian]
    • Dietary intake and breast cancer among carriers and noncarriers of BRCA mutations in the Korean Hereditary Breast Cancer Study.
    • Ko KP, Kim SW, Ma SH, Park B, Ahn Y, Lee JW, Lee MH, Kang E, Kim LS, Jung Y, Cho YU, Lee B, Lin JH, Park SK.
    • Am J Clin Nutr. 2013 Dec;98(6):1493-501. doi: 10.3945/ajcn.112.057760. Epub 2013 Oct 23.
    • Performance of BOADICEA and BRCAPRO genetic models and of empirical criteria based on cancer family history for predicting BRCA mutation carrier probabilities: A retrospective study in a sample of Italian cancer genetics clinics.
    • Varesco L, Viassolo V, Viel A, Gismondi V, Radice P, Montagna M, Alducci E, Della Puppa L, Oliani C, Tommasi S, Caligo MA, Vivanet C, Zuradelli M, Mandich P, Tibiletti MG, Cavalli P, Lucci Cordisco E, Turchetti D, Boggiani D, Bracci R, Bruzzi P, Bonelli L.
    • Breast. 2013 Dec;22(6):1130-5. doi: 10.1016/j.breast.2013.07.053. Epub 2013 Sep 5.
    • Detection of a novel mutation in exon 20 of the BRCA1 gene.
    • Chakraborty A, Katarkar A, Chaudhuri K, Mukhopadhyay A, Basak J.
    • Cell Mol Biol Lett. 2013 Dec;18(4):631-8. doi: 10.2478/s11658-013-0110-3. Epub 2013 Dec 2.
    • 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.
    • Breast cancer risk prediction accuracy in Jewish Israeli high-risk women using the BOADICEA and IBIS risk models.
    • Laitman Y, Simeonov M, Keinan-Boker L, Liphshitz I, Friedman E.
    • Genet Res (Camb). 2013 Dec;95(6):174-7. doi: 10.1017/S0016672313000232. Epub 2014 Feb 10.
    • Distribution of BRCA1 and BRCA2 Mutations in Asian Patients with Breast Cancer.
    • Kim H, Choi DH.
    • J Breast Cancer. 2013 Dec;16(4):357-65. doi: 10.4048/jbc.2013.16.4.357. Epub 2013 Dec 31.
    • Ask Well: Genetic Testing for Breast Cancer.
    • Roni Caryn Rabin.
    • New York Times. Ask Well. 2013 Nov 27.
    • Introduction to epidemiology of breast and ovarian cancers.
    • Adaniel C, Kirchhoff T.
    • Ann Oncol. 2013 Nov;24 Suppl 8:viii61-viii62. doi: 10.1093/annonc/mdt317.
    • BRCA mutations and outcome in epithelial ovarian cancer (EOC): experience in ethnically diverse groups.
    • Safra T, Lai WC, Borgato L, Nicoletto MO, Berman T, Reich E, Alvear M, Haviv I, Muggia FM.
    • Ann Oncol. 2013 Nov;24 Suppl 8:viii63-viii68. doi: 10.1093/annonc/mdt315.
    • The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.
    • Infante M, Durán M, Acedo A, Sánchez-Tapia EM, Díez-Gómez B, Barroso A, García-González M, Feliubadaló L, Lasa A, de la Hoya M, Esteban-Cardeñosa E, Díez O, Martínez-Bouzas C, Godino J, Teulé A, Osorio A, Lastra E, González-Sarmiento R, Miner C, Velasco EA.
    • Carcinogenesis. 2013 Nov;34(11):2505-11. doi: 10.1093/carcin/bgt272. Epub 2013 Aug 8.
    • Prevalence of BRCA mutations among women with triple-negative breast cancer (TNBC) in a genetic counseling cohort.
    • Greenup R, Buchanan A, Lorizio W, Rhoads K, Chan S, Leedom T, King R, McLennan J, Crawford B, Kelly Marcom P, Shelley Hwang E.
    • Ann Surg Oncol. 2013 Oct;20(10):3254-8. doi: 10.1245/s10434-013-3205-1. Epub 2013 Aug 22.
    • Germline mutations in dna repair genes in women with ovarian, peritoneal, or fallopian tube cancer treated on GOG protocol 218.
    • Norquist B, Harrell M, Walsh T, Lee MK, King MC, Swisher EM, Birrer MJ.
    • Gynecologic Oncology. 2013 Oct;131(1):259. doi: 10.1016/j.ygyno.2013.07.032.
    • Conference abstract
    • Hereditary breast cancer: ever more pieces to the polygenic puzzle.
    • Bogdanova N, Helbig S, Dörk T.
    • Hered Cancer Clin Pract. 2013 Sep 11;11(1):12. doi: 10.1186/1897-4287-11-12.
    • Validation, calibration and refitting of a familial breast cancer model in sisterships: a case study in the Swedish sisters data.
    • van Houwelingen HC, Rebora P, Reilly M.
    • Stat Med. 2013 Sep 10;32(20):3486-500. doi: 10.1002/sim.5781. Epub 2013 Mar 18.
    • Frequency of 5382insC mutation of BRCA1 gene among breast cancer patients: an experience from Eastern India.
    • Chakraborty A, Mukhopadhyay A, Bhattacharyya D, Bose CK, Choudhuri K, Mukhopadhyay S, Basak J.
    • Fam Cancer. 2013 Sep;12(3):489-95. doi: 10.1007/s10689-012-9590-y.
    • The korean hereditary breast cancer study: review and future perspectives.
    • Kang E, Kim SW.
    • J Breast Cancer. 2013 Sep;16(3):245-53. doi: 10.4048/jbc.2013.16.3.245. Epub 2013 Sep 30.
    • Functional analysis of BRCA1 missense variants of uncertain significance in Japanese breast cancer families.
    • Kawaku S, Sato R, Song H, Bando Y, Arinami T, Noguchi E.
    • J Hum Genet. 2013 Sep;58(9):618-21. doi: 10.1038/jhg.2013.71. Epub 2013 Jul 11.
    • Breast cancer in Arab populations: molecular characteristics and disease management implications.
    • Chouchane L, Boussen H, Sastry KS.
    • Lancet Oncol. 2013 Sep;14(10):e417-24. doi: 10.1016/S1470-2045(13)70165-7.
    • Review

    Letter, Comment:

    Perspectives on breast cancer in Arab populations.

    • Hereditary breast and ovarian cancer susceptibility genes (Review).
    • Kobayashi H, Ohno S, Sasaki Y, Matsuura M.
    • Oncol Rep. 2013 Sep;30(3):1019-29. doi: 10.3892/or.2013.2541. Epub 2013 Jun 19.
    • Prognosis of probability of BRCA1 and BRCA2 mutations carriage in women with compromised family history of breast and/or ovarian cancer.
    • Rybchenko LA, Bychkova AM, Skyban GV, Klymenko SV.
    • Probl Radiac Med Radiobiol. 2013 Sep;18:253-260.
    • A comparison of the detection of BRCA mutation carriers through the provision of Jewish population-based genetic testing compared with clinic-based genetic testing.
    • Metcalfe KA, Poll A, Royer R, Nanda S, Llacuachaqui M, Sun P, Narod SA.
    • Br J Cancer. 2013 Aug 6;109(3):777-9. doi: 10.1038/bjc.2013.309. Epub 2013 Jun 18.
    • BRCA1 gene mutations frequency estimation by allele-specific real-time PCR of pooled genomic DNA samples.
    • Anisimenko MS, Mitrofanov DV, Chasovnikova OB, Voevoda MI, Kovalenko SP.
    • Breast. 2013 Aug;22(4):532-6. doi: 10.1016/j.breast.2012.12.007. Epub 2013 Feb 1.
    • Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests.
    • Pujol P, Lyonnet DS, Frebourg T, Blin J, Picot MC, Lasset C, Dugast C, Berthet P, de Paillerets BB, Sobol H, Grandjouan S, Soubrier F, Buecher B, Guimbaud R, Lidereau R, Jonveaux P, Houdayer C, Giraud S, Olschwang S, Nogue E, Galibert V, Bara C, Nowak F, Khayat D, Nogues C.
    • Breast Cancer Res Treat. 2013 Aug;141(1):135-44. doi: 10.1007/s10549-013-2669-9. Epub 2013 Aug 24.
    • The complex genetic landscape of familial breast cancer.
    • Melchor L, Benítez J.
    • Hum Genet. 2013 Aug;132(8):845-63. doi: 10.1007/s00439-013-1299-y. Epub 2013 Apr 5.
    • Review
    • Serbian high-risk families: extensive results on BRCA mutation spectra and frequency.
    • Dobričić J, Krivokuća A, Brotto K, Mališić E, Radulović S, Branković-Magić M.
    • J Hum Genet. 2013 Aug;58(8):501-7. doi: 10.1038/jhg.2013.30. Epub 2013 May 2.
    • Clinicians' Attitudes toward General Screening of the Ashkenazi-Jewish Population for Prevalent Founder BRCA1/2 and LRRK2 Mutations.
    • Shkedi-Rafid S, Ofer-Bialer G, Meiner V, Calderon-Margalit R.
    • Public Health Genomics. [2013 Aug;];16(4):174-83. doi: 10.1159/000351592. Epub 2013 Jun 28.
    • 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.

    • Analysis of several BRCA1 and BRCA2 mutations in a hospital-based series of unselected breast cancer cases.
    • Burcoş T, Cimponeriu D, Ion DA, Spandole S, Apostol P, Toma M, Radu I, Popa I, Stanilescu S, Popa E.
    • Chirurgia (Bucur). 2013 Jul-Aug;108(4):468-72.
    • BRCA1 gene Molecular Alterations in Omani Breast Cancer Patients.
    • Al-Moundhri MS, Al-Ansari A, Al-Mawali K, Al-Bahrani B.
    • Gulf J Oncolog. 2013 Jul;1(14):45-51.
    • Implementation of a breast cancer genetic service in South Africa - lessons learned.
    • Schoeman M, Apffelstaedt JP, Baatjes K, Urban M.
    • S Afr Med J. 2013 Jun 25;103(8):529-33. doi: 10.7196/samj.6814.
    • BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families.
    • Berzina D, Nakazawa-Miklasevica M, Zestkova J, Aksenoka K, Irmejs A, Gardovskis A, Kalniete D, Gardovskis J, Miklasevics E.
    • BMC Med Genet. 2013 Jun 14;14:61. doi: 10.1186/1471-2350-14-61.
    • Breast Cancer Gene Mutations More Common in Black Women.
    • Johnson K.
    • Medscape Medical News. Conference News. 2013 Jun 6.
    • Genetic breast cancer risk among black populations.
    • Philippa Brice.
    • PHG Foundation. 2013 Jun 4.
    • Mutations in susceptibility genes common in younger African American women with breast cancer.
    • John Easton.
    • EurekAlert!. 2013 Jun 3.
    • Breast cancer genes: beyond BRCA1 and BRCA2.
    • Filippini SE, Vega A.
    • Front Biosci (Landmark Ed). 2013 Jun 1;18:1358-72.
    • 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.
    • BRCA1 and BRCA2 Gene Mutations Screening In Sporadic Breast Cancer Patients In Kazakhstan.
    • Akilzhanova AR, Nyshanbekkyzy B, Nurkina ZM, Shtephanov II, Makishev AK, Adylkhanov TA, Rakhypbekov TK, Ramanculov EM, Momynaliev KT.
    • Cent Asian J Glob Health. 2013 May 21;2(1):29. doi: 10.5195/cajgh.2013.29. eCollection 2013.

    Editorial:

    Editorial: BRCA1 and BRCA2 gene mutations screening in sporadic breast cancer patients in Kazakhstan.

    • Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).
    • Blay P, Santamaría I, Pitiot AS, Luque M, Alvarado MG, Lastra A, Fernández Y, Paredes A, Freije JM, Balbín M.
    • BMC Cancer. 2013 May 17;13:243. doi: 10.1186/1471-2407-13-243.
    • High mammographic density in women of Ashkenazi Jewish descent.
    • Caswell JL, Kerlikowske K, Shepherd JA, Cummings SR, Hu D, Huntsman S, Ziv E.
    • Breast Cancer Res. 2013 May 13;15(3):R40. doi: 10.1186/bcr3424.
    • The BRCA1 S1715N mutation segregates with breast and ovarian cancer in an extended family pedigree.
    • Campbell J, Speevak M.
    • Clin Genet. 2013 May;83(5):485-7. doi: 10.1111/j.1399-0004.2012.01933.x. Epub 2012 Aug 1.
    • Letter
    • An international comparison of male and female breast cancer incidence rates.
    • Ly D, Forman D, Ferlay J, Brinton LA, Cook MB.
    • Int J Cancer. 2013 Apr 15;132(8):1918-26. doi: 10.1002/ijc.27841. Epub 2012 Oct 12.
    • Involvement of IGF-1R regulation by miR-515-5p modifies breast cancer risk among BRCA1 carriers.
    • Gilam A, Edry L, Mamluk-Morag E, Bar-Ilan D, Avivi C, Golan D, Laitman Y, Barshack I, Friedman E, Shomron N.
    • Breast Cancer Res Treat. 2013 Apr;138(3):753-60. doi: 10.1007/s10549-013-2502-5. Epub 2013 Apr 3.
    • Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.
    • Stavropoulou AV1, Fostira F, Pertesi M, Tsitlaidou M, Voutsinas GE, Triantafyllidou O, Bamias A, Dimopoulos MA, Timotheadou E, Pectasides D, Christodoulou C, Klouvas G, Papadimitriou C, Makatsoris T, Pentheroudakis G, Aravantinos G, Karydakis V, Yannoukakos D, Fountzilas G, Konstantopoulou I.
    • PLoS One. 2013;8(3):e58182. doi: 10.1371/journal.pone.0058182. Epub 2013 Mar 11.

    Erratum: Correction: Prevalence of BRCA1 Mutations in Familial and Sporadic Greek Ovarian Cancer Cases. (PLoS ONE)

    • Comprehensive Analysis of BRCA1, BRCA2 and TP53 Germline Mutation and Tumor Characterization: A Portrait of Early-Onset Breast Cancer in Brazil.
    • Carraro DM, Koike Folgueira MA, Garcia Lisboa BC, Ribeiro Olivieri EH, Vitorino Krepischi AC, de Carvalho AF, de Carvalho Mota LD, Puga RD, do Socorro Maciel M, Michelli RA, de Lyra EC, Grosso SH, Soares FA, de Souza Waddington Achatz MI, Brentani H, Moreira-Filho CA, Brentani MM.
    • PLoS One. 2013;8(3):e57581. doi: 10.1371/journal.pone.0057581. Epub 2013 Mar 1.
    • 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.
    • Early Onset Breast Cancer in a Registry-based Sample of African-American Women: BRCA Mutation Prevalence, and Other Personal and System-level Clinical Characteristics.
    • Pal T, Bonner D, Kim J, Monteiro AN, Kessler L, Royer R, Narod SA, Vadaparampil ST.
    • Breast J. 2013 Mar;19(2):189-92. doi: 10.1111/tbj.12083. Epub 2013 Jan 16.

    Press: Young, Black, Female Breast Cancer Patients Need Genetic Risk Strategies. (Medical News Today)

    • Haplotype analysis and ancient origin of the BRCA1 c.4035delA Baltic founder mutation.
    • Janavičius R, Rudaitis V, Feng BJ, Ozolina S, Griškevičius L, Goldgar D, Tihomirova L.
    • Eur J Med Genet. 2013 Mar;56(3):125-30. doi: 10.1016/j.ejmg.2012.12.007. Epub 2012 Dec 27.
    • 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.
    • An unusual BRCA mutation distribution in a high risk cancer genetics clinic.
    • Nelson-Moseke AC, Jeter JM, Cui H, Roe DJ, Chambers SK, Laukaitis CM.
    • Fam Cancer. 2013 Mar;12(1):83-7. doi: 10.1007/s10689-012-9581-z.
    • Prevalence of BRCA1 and BRCA2 Germline Mutations in Breast Cancer Women of Multiple Ethnic Region in Northwest China.
    • Ou J, Wu T, Sijmons R, Ni D, Xu W, Upur H.
    • J Breast Cancer. 2013 Mar;16(1):50-4. doi: 10.4048/jbc.2013.16.1.50. Epub 2013 Mar 31.
    • BRCA1 and BRCA2 mutations in the ovarian cancer population across race and ethnicity: special reference to Asia.
    • Shanmughapriya S, Nachiappan V, Natarajaseenivasan K.
    • Oncology. [2013 Mar;]84(4):226-32. doi: 10.1159/000346593. Epub 2013 Jan 29.
    • Review
    • BRCA1 germ-line mutations and tumor characteristics in eastern Chinese women with familial breast cancer.
    • Cao W, Wang X, Gao Y, Yang H, Li JC.
    • Anat Rec (Hoboken). 2013 Feb;296(2):273-8. doi: 10.1002/ar.22628. Epub 2012 Nov 23.
    • Recalibration of the Gail model for predicting invasive breast cancer risk in Spanish women: a population-based cohort study.
    • Pastor-Barriuso R, Ascunce N, Ederra M, Erdozáin N, Murillo A, Alés-Martínez JE, Pollán M.
    • Breast Cancer Res Treat. 2013 Feb;138(1):249-59. doi: 10.1007/s10549-013-2428-y. Epub 2013 Feb 3.
    • 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.
    • Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations.
    • Laitman Y, Feng BJ, Zamir IM, Weitzel JN, Duncan P, Port D, Thirthagiri E, Teo SH, Evans G, Latif A, Newman WG, Gershoni-Baruch R, Zidan J, Shimon-Paluch S, Goldgar D, Friedman E.
    • Eur J Hum Genet. 2013 Feb;21(2):212-6. doi: 10.1038/ejhg.2012.124. Epub 2012 Jul 4.
    • Familial prostate cancer: the damage done and lessons learnt.
    • Taherian N, Hamel N, Bégin LR, Bismar TA, Goldgar DE, Feng BJ, Foulkes WD.
    • Nat Rev Urol. 2013 Feb;10(2):116-22. doi: 10.1038/nrurol.2012.257. Epub 2013 Jan 15.
    • Prevalence and Type of BRCA Mutations in Hispanics Undergoing Genetic Cancer Risk Assessment in the Southwestern United States: A Report From the Clinical Cancer Genetics Community Research Network.
    • Weitzel JN, Clague J, Martir-Negron A, Ogaz R, Herzog J, Ricker C, Jungbluth C, Cina C, Duncan P, Unzeitig G, Saldivar JS, Beattie M, Feldman N, Sand S, Port D, Barragan DI, John EM, Neuhausen SL, Larson GP.
    • J Clin Oncol. 2013 Jan 10;31(2):210-6. doi: 10.1200/JCO.2011.41.0027. Epub 2012 Dec 10.
    • Genotype in BRCA-associated Breast Cancers.
    • Meric-Bernstam F, Gutierrez-Barrera AM, Litton J, Mellor-Crummey L, Ready K, Gonzalez-Angulo AM, Lu KH, Hortobagyi GN, Arun BK.
    • Breast J. 2013 Jan;19(1):87-91. doi: 10.1111/tbj.12056. Epub 2012 Dec 10.
    • Genetic susceptibility Loci for subtypes of breast cancer in an african american population.
    • Palmer JR, Ruiz-Narvaez EA, Rotimi CN, Cupples LA, Cozier YC, Adams-Campbell LL, Rosenberg L.
    • Cancer Epidemiol Biomarkers Prev. 2013 Jan;22(1):127-34. doi: 10.1158/1055-9965.EPI-12-0769. Epub 2012 Nov 7.
    • Age-specific incidence rates for breast cancer in carriers of BRCA1 mutations from Norway.
    • Møller P, Maehle L, Vabø A, Clark N, Sun P, Narod S.
    • Clin Genet. 2013 Jan;83(1):88-91. doi: 10.1111/j.1399-0004.2012.01855.x. Epub 2012 Mar 1.
    • Identification of germline BRCA1 mutations among breast cancer families in Northeastern Iran.
    • Kooshyar MM, Nassiri M, Mahdavi M, Doosti M, Parizadeh A.
    • Asian Pac J Cancer Prev. 2013;14(7):4339-45.
    • Identification of a novel BRCA2 and CHEK2 A-C-G-C haplotype in Turkish patients affected with breast cancer.
    • Haytural H, Yalcinkaya N, Akan G, Arikan S, Ozkok E, Cakmakoglu B, Yaylim I, Aydin M, Atalar F.
    • Asian Pac J Cancer Prev. 2013;14(5):3229-35.
    • Compliance with screening recommendations according to breast cancer risk levels in Izmir, Turkey.
    • Acikgoz A, Ergor G.
    • Asian Pac J Cancer Prev. 2013;14(3):1737-42.
    • Hereditary breast cancer: the era of new susceptibility genes.
    • Apostolou P, Fostira F.
    • Biomed Res Int. 2013;2013:747318. doi: 10.1155/2013/747318. Epub 2013 Mar 21.
    • A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.
    • Karami F, Mehdipour P.
    • Biomed Res Int. 2013;2013:928562. doi: 10.1155/2013/928562. Epub 2013 Nov 7.
    • Prevalence of the BRCA1 c.68_69delAG (BIC: 185delAG) mutation in women with breast cancer from north-central Poland and a review of the literature on other regions of the country.
    • Hartwig M, Janiszewska H, Bąk A, Pilarska M, Heise M, Junkiert-Czarnecka A, Laskowski R, Haus O.
    • Contemp Oncol (Pozn). 2013;17(1):34-7. doi: 10.5114/wo.2013.33767. Epub 2013 Mar 15.
    • Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population.
    • Laraqui A, Uhrhammer N, Lahlou-Amine I, El Rhaffouli H, El Baghdadi J, Dehayni M, Moussaoui RD, Ichou M, Sbitti Y, Al Bouzidi A, Amzazi S, Bignon YJ.
    • Int J Med Sci. 2013;10(1):60-7. doi: 10.7150/ijms.5014. Epub 2012 Dec 10.
    • Inherited mutations in breast cancer genes in African American breast cancer patients revealed by targeted genomic capture and next-generation sequencing.
    • Jane E. Churpek, Tom Walsh, Yonglan Zheng, Silvia Casadei, Anne M. Thornton, Ming K. Lee, Matthew Churpek, Dezheng Huo, Cecilia Zvosec, Fang Liu, Qun Niu, Jing Zhang, James Fackenthal, Mary-Claire King, Olufunmilayo I. Olopade.
    • J Clin Oncol. 2013;31(Suppl): abstr CRA1501. 2013 ASCO Annual Meeting.
    • Conference abstract
    • Hereditary breast cancer in the Han Chinese population.
    • Cao W, Wang X, Li JC.
    • J Epidemiol. 2013;23(2):75-84. Epub 2013 Jan 12.
    • Frequency of Triple-Negative Breast Cancer in BRCA1 Mutation Carriers: Comparison Between Common Ashkenazi Jewish and Other Mutations.
    • Tung N, Garber JE, Lincoln A, Domchek SM.
    • J Clin Oncol. 2012 Dec 10;30(35):4447-8. doi: 10.1200/JCO.2012.44.5635. Epub 2012 Oct 22.

    Characteristics of triple-negative breast cancer in patients with a BRCA1 mutation: results from a population-based study of young women.

    • Genetic variation of the brca1 and brca2 genes in macedonian patients.
    • Maleva I, Madjunkova S, Bozhinovski G, Smickova E, Kondov G, Spiroski Z, Arsovski A, Plaseska-Karanfilska D.
    • Balkan J Med Genet. 2012 Dec;15(Suppl):81-5. doi: 10.2478/v10034-012-0025-8.
    • Identification of a novel in-frame deletion in BRCA2 and analysis of variants of BRCA1/2 in Italian patients affected with hereditary breast and ovarian cancer.
    • Vietri MT, Molinari AM, Laura De Paola M, Cantile F, Fasano M, Cioffi M.
    • Clin Chem Lab Med. 2012 Dec;50(12):2171-80.
    • Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan.
    • Ahmad J, Le Calvez-Kelm F, Daud S, Voegele C, Vallée M, Ahmad A, Kakar N, McKay J, Gaborieau V, Léoné M, Sinilnikova O, Sangrajrang S, Tavtigian S, Lesueur F.
    • Clin Genet. 2012 Dec;82(6):594-598. doi: 10.1111/j.1399-0004.2012.01869.x. Epub 2012 Apr 8.
    • Letter
    • Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype.
    • Moreira MA, Bobrovnitchaia IG, Lima MA, Santos AC, Ramos JP, Souza KR, Peixoto A, Teixeira MR, Vargas FR.
    • Fam Cancer. 2012 Dec;11(4):657-60. doi: 10.1007/s10689-012-9551-5.
    • BRCA1/BRCA2 gene mutations/SNPs and BRCA1 haplotypes in early-onset breast cancer patients of Indian ethnicity.
    • Juwle A, Saranath D.
    • Med Oncol. 2012 Dec;29(5):3272-81. doi: 10.1007/s12032-012-0294-9. Epub 2012 Jul 3.
    • [Descriptive epidemiology and molecular genetics of hereditary breast cancer in Costa Rica].
    • García-Jiménez L, Gutiérrez-Espeleta G, Narod SA.
    • Rev Biol Trop. 2012 Dec;60(4):1663-8.
    • [Article in Spanish]
    • Seventeen years after BRCA1: what is the BRCA mutation status of the breast cancer patients in Africa? - a systematic review.
    • Oluwagbemiga LA, Oluwole A, Kayode AA.
    • Springerplus.2012 Dec;1(1):83. Epub 2012 Dec 28.
    • Genotypic and phenotypic analysis of familial male breast cancer shows under representation of the HER2 and basal subtypes in BRCA-associated carcinomas.
    • Deb S, Jene N; Kconfab Investigators, Fox SB.
    • BMC Cancer. 2012 Nov 9;12:510. doi: 10.1186/1471-2407-12-510.
    • Triple-negative breast cancer and PTEN (phosphatase and tensin homologue) loss are predictors of BRCA1 germline mutations in women with early-onset and familial breast cancer, but not in women with isolated late-onset breast cancer.
    • Phuah SY, Looi LM, Hassan N, Rhodes A, Dean S, Taib NA, Yip CH, Teo SH.
    • Breast Cancer Res. 2012 Nov 2;14(6):R142. doi: 10.1186/bcr3347.
    • Non-random distribution of breast cancer susceptibility loci on human chromosomes.
    • Saify K, Saadat M.
    • Breast Cancer Res Treat. 2012 Nov;136(1):315-8. doi: 10.1007/s10549-012-2208-0. Epub 2012 Aug 22.
    • Letter
    • 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.
    • Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families.
    • Novaković S, Milatović M, Cerkovnik P, Stegel V, Krajc M, Hočevar M, Zgajnar J, Vakselj A.
    • Int J Oncol. 2012 Nov;41(5):1619-27. doi: 10.3892/ijo.2012.1595. Epub 2012 Aug 21.
    • Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer.
    • Pern F, Bogdanova N, Schürmann P, Lin M, Ay A, Länger F, Hillemanns P, Christiansen H, Park-Simon TW, Dörk T.
    • PLoS One. 2012;7(10):e47993. doi: 10.1371/journal.pone.0047993. Epub 2012 Oct 24.
    • Effects of the missense mutations in canine BRCA2 on BRC repeat 3 functions and comparative analyses between canine and human BRC repeat 3.
    • Yoshikawa Y, Ochiai K, Morimatsu M, Suzuki Y, Wada S, Taoda T, Iwai S, Chikazawa S, Orino K, Watanabe K.
    • PLoS One. 2012;7(10):e45833. doi: 10.1371/journal.pone.0045833. Epub 2012 Oct 12.
    • BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.
    • Solano AR, Aceto GM, Delettieres D, Veschi S, Neuman MI, Alonso E, Chialina S, Chacón RD, Renato MC, Podestá EJ.
    • Springerplus. 2012 Sep 25;1:20. doi: 10.1186/2193-1801-1-20. eCollection 2012.
    • Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis.
    • Kwong A, Ng EK, Wong CL, Law FB, Au T, Wong HN, Kurian AW, West DW, Ford JM, Ma ES.
    • PLoS One. 2012;7(9):e43994. doi: 10.1371/journal.pone.0043994. Epub 2012 Sep 7.
    • High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients.
    • Fackenthal JD, Zhang J, Zhang B, Zheng Y, Hagos F, Burrill DR, Niu Q, Huo D, Sveen WE, Ogundiran T, Adebamowo C, Odetunde A, Falusi AG, Olopade OI.
    • Int J Cancer. 2012 Sep 1;131(5):1114-23. doi: 10.1002/ijc.27326. Epub 2012 Jan 27.
    • Genetic determinants of breast cancer risk: a review of current literature and issues pertaining to clinical application.
    • Njiaju UO, Olopade OI.
    • Breast J. 2012 Sep;18(5):436-42. doi: 10.1111/j.1524-4741.2012.01274.x.
    • Review
    • 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 cancer risk factors differ between Asian and white women with BRCA1/2 mutations.
    • de Bruin MA, Kwong A, Goldstein BA, Lipson JA, Ikeda DM, McPherson L, Sharma B, Kardashian A, Schackmann E, Kingham KE, Mills MA, West DW, Ford JM, Kurian AW.
    • Fam Cancer. 2012 Sep;11(3):429-39. doi: 10.1007/s10689-012-9531-9.
    • 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.
    • Associations between BRCA Mutations in High-Risk Breast Cancer Patients and Familial Cancers Other than Breast or Ovary.
    • Noh JM, Choi DH, Baek H, Nam SJ, Lee JE, Kim JW, Ki CS, Park W, Huh SJ.
    • J Breast Cancer. 2012 Sep;15(3):283-7. doi: 10.4048/jbc.2012.15.3.283. Epub 2012 Sep 28.
    • Breast cancer in the Arctic--changes over the past decades.
    • Fredslund SO, Bonefeld-Jørgensen EC.
    • Int J Circumpolar Health. 2012 Aug 16;71:19155. doi: 10.3402/ijch.v71i0.19155.

    Review:

    Breast cancer in the Arctic--changes over the past decades.

    • Accuracy of BRCA1/2 mutation prediction models in Korean breast cancer patients.
    • Kang E, Park SK, Yang JJ, Park B, Lee MH, Lee JW, Suh YJ, Lee JE, Kim HA, Oh SJ, Kim SW; Korean Breast Cancer Society.
    • Breast Cancer Res Treat. 2012 Aug;134(3):1189-97. doi: 10.1007/s10549-012-2022-8. Epub 2012 Mar 22.
    • Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.
    • Kim H, Cho DY, Choi DH, Choi SY, Shin I, Park W, Huh SJ, Han SH, Lee MH, Ahn SH, Son BH, Kim SW; Korean Breast Cancer Study Group, Haffty BG.
    • Breast Cancer Res Treat. 2012 Aug;134(3):1315-26. doi: 10.1007/s10549-012-2159-5. Epub 2012 Jul 14.
    • Familial breast cancer.
    • Lalloo F, Evans DG.
    • Clin Genet. 2012 Aug;82(2):105-14. doi: 10.1111/j.1399-0004.2012.01859.x. Epub 2012 Apr 13.
    • 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)

    • Grace Rock's consent.
    • Ross TS.
    • Endocr Relat Cancer. 2012 Jul 22;19(4):C29-31. doi: 10.1530/ERC-12-0186. Print 2012 Aug.
    • BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group.
    • Alsop K, Fereday S, Meldrum C, deFazio A, Emmanuel C, George J, Dobrovic A, Birrer MJ, Webb PM, Stewart C, Friedlander M, Fox S, Bowtell D, Mitchell G.
    • J Clin Oncol. 2012 Jul 20;30(21):2654-63. doi: 10.1200/JCO.2011.39.8545. Epub 2012 Jun 18.

    Press: Routine BRCA Mutation Testing Urged in Ovarian Cancer. (Medscape/Reuters Health)

    • Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
    • Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.
    • Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: articles needed

    • The risk of breast cancer in women with a BRCA1 mutation from North America and Poland.
    • Lubinski J, Huzarski T, Byrski T, Lynch HT, Cybulski C, Ghadirian P, Stawicka M, Foulkes WD, Kilar E, Kim-Sing C, Neuhausen SL, Armel S, Gilchrist D, Sweet K, Gronwald J, Eisen A, Gorski B, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group.
    • Int J Cancer. 2012 Jul 1;131(1):229-34. doi: 10.1002/ijc.26369. Epub 2011 Sep 22.
    • Recurrent BRCA1 and BRCA2 mutations in breast cancer patients of African ancestry.
    • Zhang J, Fackenthal JD, Zheng Y, Huo D, Hou N, Niu Q, Zvosec C, Ogundiran TO, Hennis AJ, Leske MC, Nemesure B, Wu SY, Olopade OI.
    • Breast Cancer Res Treat. 2012 Jul;134(2):889-94. doi: 10.1007/s10549-012-2136-z. Epub 2012 Jun 28.
    • Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study.
    • Fostira F, Tsitlaidou M, Papadimitriou C, Pertesi M, Timotheadou E, Stavropoulou AV, Glentis S, Bournakis E, Bobos M, Pectasides D, Papakostas P, Pentheroudakis G, Gogas H, Skarlos P, Samantas E, Bafaloukos D, Kosmidis PA, Koutras A, Yannoukakos D, Konstantopoulou I, Fountzilas G.
    • Breast Cancer Res Treat. 2012 Jul;134(1):353-62. doi: 10.1007/s10549-012-2021-9. Epub 2012 Mar 21.
    • Clinical and pathologic characteristics of BRCA-positive and BRCA-negative male breast cancer patients: results from a collaborative multicenter study in Italy.
    • Ottini L, Silvestri V, Rizzolo P, Falchetti M, Zanna I, Saieva C, Masala G, Bianchi S, Manoukian S, Barile M, Peterlongo P, Varesco L, Tommasi S, Russo A, Giannini G, Cortesi L, Viel A, Montagna M, Radice P, Palli D.
    • Breast Cancer Res Treat. 2012 Jul;134(1):411-8. doi: 10.1007/s10549-012-2062-0. Epub 2012 Apr 18.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: contralateral breast risk for BRCA+ male

    • BRCA genetic testing of individuals from families with low prevalence of cancer: experiences of carriers and implications for population screening.
    • Shkedi-Rafid S, Gabai-Kapara E, Grinshpun-Cohen J, Levy-Lahad E.
    • Genet Med. 2012 Jul;14(7):688-94.
    • Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil.
    • Dillenburg CV, Bandeira IC, Tubino TV, Rossato LG, Dias ES, Bittelbrunn AC, Leistner-Segal S.
    • Genet Mol Biol. 2012 Jul;35(3):599-602. doi: 10.1590/S1415-47572012000400009. Epub 2012 Aug 17.
    • Effectiveness of risk-reducing salpingo-oophorectomy in preventing ovarian cancer in a high-risk French Canadian population.
    • Bacha OM, Gregoire J, Grondin K, Edelweiss MI, Laframboise R, Simard J, Plante M.
    • Int J Gynecol Cancer. 2012 Jul;22(6):974-8. doi: 10.1097/IGC.0b013e318257b936.
    • Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.
    • Jalkh N, Nassar-Slaba J, Chouery E, Salem N, Uhrchammer N, Golmard L, Stoppa-Lyonnet D, Bignon YJ, Mégarbané A.
    • Hered Cancer Clin Pract. 2012 Jun 19;10(1):7. doi: 10.1186/1897-4287-10-7.
    • Prevalence of BRCA mutations in an unselected population of triple-negative breast cancer.
    • Hartman AR, Kaldate RR, Sailer LM, Painter L, Grier CE, Endsley RR, Griffin M, Hamilton SA, Frye CA, Silberman MA, Wenstrup RJ, Sandbach JF.
    • Cancer. 2012 Jun 1;118(11):2787-95. doi: 10.1002/cncr.26576. Epub 2011 Oct 5.
    • Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: the Korean Hereditary Breast Cancer (KOHBRA) Study.
    • Son BH, Ahn SH, Kim SW, Kang E, Park SK, Lee MH, Noh WC, Kim LS, Jung Y, Kim KS, Noh DY, Moon BI, Suh YJ, Lee JE, Choi DH, Kim SY, Jung SH, Yom CK, Lee H, Yang JH; KOHBRA Research Group and Korean Breast Cancer Society.
    • Breast Cancer Res Treat. 2012 Jun;133(3):1143-52. doi: 10.1007/s10549-012-2001-0. Epub 2012 Mar 2.
    • Recurrent germline mutations in BRCA1 and BRCA2 genes in high risk families in Israel.
    • Laitman Y, Simeonov M, Herskovitz L, Kushnir A, Shimon-Paluch S, Kaufman B, Zidan J, Friedman E.
    • Breast Cancer Res Treat. 2012 Jun;133(3):1153-7. doi: 10.1007/s10549-012-2006-8. Epub 2012 Mar 8.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: AJ Founder Mutations

    • 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.
    • Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families.
    • Schneegans SM, Rosenberger A, Engel U, Sander M, Emons G, Shoukier M.
    • Fam Cancer. 2012 Jun;11(2):181-8. doi: 10.1007/s10689-011-9498-y.
    • [Prevalence of mutations BRCA1 5382insC, and CHEK2 1100delC in the population of Siberian region].
    • Chasovnikova OB, Mitrofanov DV, Anisimenko MS, Voevoda MI, Kovalenko SP, Liakhovich VV.
    • Genetika. 2012 Jun;48(6):768-72.
    • [Article in Russian]
    • BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
    • Tazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.
    • Gynecol Oncol. 2012 Jun;125(3):687-92. doi: 10.1016/j.ygyno.2012.03.007. Epub 2012 Mar 13.
    • Who's to blame? Accounts of genetic responsibility and blame among Ashkenazi Jewish women at risk of BRCA breast cancer.
    • Mozersky J.
    • Sociol Health Illn. 2012 Jun;34(5):776-90. doi: 10.1111/j.1467-9566.2011.01427.x. Epub 2012 Jan 18.
    • Full-exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer.
    • Vaca-Paniagua F, Alvarez-Gomez RM, Fragoso-Ontiveros V, Vidal-Millan S, Herrera LA, Cantú D, Bargallo-Rocha E, Mohar A, López-Camarillo C, Pérez-Plasencia C.
    • PLoS One. 2012;7(5):e37432. doi: 10.1371/journal.pone.0037432. Epub 2012 May 24.
    • Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia.
    • Levanat S, Musani V, Cvok ML, Susac I, Sabol M, Ozretic P, Car D, Eljuga D, Eljuga L, Eljuga D.
    • Gene. 2012 May 1;498(2):169-76. doi: 10.1016/j.gene.2012.02.010. Epub 2012 Feb 17.
    • Identification of the prevalent BRCA1 and BRCA2 mutations in the female population of Puerto Rico.
    • Dutil J, Colon-Colon JL, Matta JL, Sutphen R, Echenique M.
    • Cancer Genet. 2012 May;205(5):242-8. doi: 10.1016/j.cancergen.2012.04.002.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Question founder mutations Puerto Rico.

    • Allelic transcripts dosage effect in morphologically normal ovarian cells from heterozygous carriers of a BRCA1/2 French Canadian founder mutation.
    • Abd-Rabbo D, Abaji C, Cardin GB, Filali-Mouhim A, Arous C, Portelance L, Escobar E, Cloutier S, Tonin PN, Provencher DM, Mes-Masson AM, Maugard CM.
    • Cancer Prev Res (Phila). 2012 May;5(5):765-77. doi: 10.1158/1940-6207.CAPR-11-0547. Epub 2012 Mar 8.
    • Recognizing BRCA gene mutation risk subsequent to breast cancer diagnosis in southwestern Ontario.
    • Vanstone M, Chow W, Lester L, Ainsworth P, Nisker J, Brackstone M.
    • Can Fam Physician. 2012 May;58(5):e258-66.
    • [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]
    • 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.
    • 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.
    • Translational advances regarding hereditary breast cancer syndromes.
    • Gage M, Wattendorf D, Henry LR.
    • J Surg Oncol. 2012 Apr 1;105(5):444-51. doi: 10.1002/jso.21856.
    • Review
    • Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer.
    • Zhang J, Pei R, Pang Z, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Breast Cancer Res Treat. 2012 Apr;132(2):421-8. doi: 10.1007/s10549-011-1596-x. Epub 2011 May 26.
    • Phenocopy breast cancer rates in Israeli BRCA1 BRCA2 mutation carrier families: is the risk increased in non-carriers?
    • Bernholtz S, Laitman Y, Kaufman B, Shimon-Paluch S, Friedman E.
    • Breast Cancer Res Treat. 2012 Apr;132(2):669-73. doi: 10.1007/s10549-011-1886-3. Epub 2011 Nov 24.
    • [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]
    • Accuracy of BRCA1/2 mutation prediction models for different ethnicities and genders: experience in a southern Chinese cohort.
    • Kwong A, Wong CH, Suen DT, Co M, Kurian AW, West DW, Ford JM.
    • World J Surg. 2012 Apr;36(4):702-13. doi: 10.1007/s00268-011-1406-y.
    • Germline BRCA mutation does not prevent response to taxane-based therapy for the treatment of castration-resistant prostate cancer.
    • Gallagher DJ, Cronin AM, Milowsky MI, Morris MJ, Bhatia J, Scardino PT, Eastham JA, Offit K, Robson ME.
    • BJU Int. 2012 Mar;109(5):713-9. doi: 10.1111/j.1464-410X.2011.10292.x. Epub 2011 Jul 14.
    • 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.
    • Low prevalence of BRCA1 and BRCA2 mutations in the sporadic breast cancer of Spanish population.
    • de Juan Jiménez I, Esteban Cardeñosa E, Palanca Suela S, Barragán González E, Aznar Carretero I, Munárriz Gandía B, Santaballa Bertran A, Torregrosa Maicas MD, Guillén Ponce C, Sánchez Heras AB, Bayón Lara A, Fuster Lluch O, Bolufer Gilabert P.
    • Fam Cancer. 2012 Mar;11(1):49-56. doi: 10.1007/s10689-011-9481-7.
    • BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients.
    • Keshavarzi F, Javadi GR, Zeinali S.
    • Fam Cancer. 2012 Mar;11(1):57-67. doi: 10.1007/s10689-011-9477-3.
    • Implications for cancer genetics practice of pro-actively assessing family history in a General Practice cohort in North West London.
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