Non-Standard BRCA1/2 Mutations, Expression-modifying Conditions ~ Mutation Spectrum
~ Genetics of Breast & Ovarian Cancer

Includes BRCA1/2 polymorphisms/SNPs, mutations in control regions or non-exon portions of the genes, elements physically linked to BRCA1/2 that may modify their expression (See BRCA1/2 Modifiers ~ Mutation Spectrum for elements that are separate from BRCA1/2 but may modify their expression.) Also: promoter methylation, double heterozygosity, intronic variants, de novo mutations.

For papers concerning variants of uncertain significance (VUS), see the category Variants of Uncertain Significance , or the specific subcategories Individual VUS Reports ~ Variants of Uncertain Significance and General ~ Variants of Uncertain Significance.

List was last updated on Nov 28, 2019 @ 10:34 pm.


    • Analysis of polymorphisms in genes associated with the FA/BRCA pathway in three patients with multiple primary malignant neoplasms.
    • Wang L, Wang H, Wang T, Liu J, Chen W, Wang Y, Chen C, Zhu H, Dai P.
    • Artif Cells Nanomed Biotechnol. 2019 Dec;47(1):1101-1112. doi: 10.1080/21691401.2019.1575846.
    • Allele-specific expression mediates primary resistance to poly (ADP-ribose) polymerase inhibitor therapy in a case of BRCA1/2 double-germline mutant gastric cancer.
    • Wen L, Li X, Shi J, Zhang S, Wang R, Yao M, Guo J.
    • J Int Med Res. 2019 Nov 27:300060519886226. doi: 10.1177/0300060519886226. [Epub ahead of print]
    • Clinicopathological features of women with epithelial ovarian cancer and double heterozygosity for BRCA1 and BRCA2: A systematic review and case report analysis.
    • Le Page C, Rahimi K, Rodrigues M, Heinzelmann-Schwarz V, Recio N, Tommasi S, Bataillon G, Portelance L, Golmard L, Meunier L, Tonin PN, Gotlieb W, Yasmeen A, Ray-Coquard I, Labidi-Galy SI, Provencher D, Mes-Masson AM.
    • Gynecol Oncol. 2019 Nov 18. pii: S0090-8258(19)31670-1. doi: 10.1016/j.ygyno.2019.11.019. [Epub ahead of print]
    • The BRCA1 c.4096+3A>G Variant Displays Classical Characteristics of Pathogenic BRCA1 Mutations in Hereditary Breast and Ovarian Cancers, But Still Allows Homozygous Viability.
    • Arason A, Agnarsson BA, Johannesdottir G, Johannsson OT, Hilmarsdottir B, Reynisdottir I, Barkardottir RB.
    • Genes (Basel). 2019 Nov 1;10(11). pii: E882. doi: 10.3390/genes10110882.
    • Effect of variation in miRNA-binding site (rs8176318) of the BRCA1 gene in breast cancer patients.
    • Ahmad M, Jalil F, Haq M, Shah Ali.
    • Turk J Med Sci. 2019 Oct 24;49(5):1433-1438. doi: 10.3906/sag-1905-17.
    • Clinical factors associated with prolonged response and survival under olaparib as maintenance therapy in BRCA mutated ovarian cancers.
    • Labidi-Galy SI, de La Motte Rouge T, Derbel O, Wolfer A, Kalbacher E, Olivier T, Combes JD, Heimgartner-Hu K, Tredan O, Guevara H, Heudel PE, Reverdy T, Bazan F, Heinzelmann-Schwarz V, Fehr M, de Castelbajac V, Vaflard P, Crivelli L, Bonadona V, Viassolo V, Buisson A, Golmard L, Rodrigues M, Ray-Coquard I.
    • Gynecol Oncol. 2019 Oct 8. pii: S0090-8258(19)31528-8. doi: 10.1016/j.ygyno.2019.09.008. [Epub ahead of print]
    • Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.
    • Karam R, Conner B, LaDuca H, McGoldrick K, Krempely K, Richardson ME, Zimmermann H, Gutierrez S, Reineke P, Hoang L, Allen K, Yussuf A, Farber-Katz S, Rana HQ, Culver S, Lee J, Nashed S, Toppmeyer D, Collins D, Haynes G, Pesaran T, Dolinsky JS, Tippin Davis B, Elliott A, Chao E.
    • JAMA Netw Open. 2019 Oct 2;2(10):e1913900. doi: 10.1001/jamanetworkopen.2019.13900.

    Press: Ambry Genetics Study Finds RNA Testing Can Clarify Role of Variants in Hereditary Cancer Genes. (GenomeWeb)

    • Aberrant Promoter Hypermethylation of RASSF1a and BRCA1 in Circulating Cell-Free Tumor DNA Serves as a Biomarker of Ovarian Carcinoma.
    • S SK, Swamy SN, Premalatha CS, Pallavi VR, Gawari R.
    • Asian Pac J Cancer Prev. 2019 Oct 1;20(10):3001-3005. doi: 10.31557/APJCP.2019.20.10.3001.
    • Data on Single Nucleotide Polymorphism of DNA Repair Genes and Breast Cancer Risk from Poland.
    • Smolarz B, Bryś M, Forma E, Zadrożny M, Bieńkiewicz J, Romanowicz H.
    • Pathol Oncol Res. 2019 Oct;25(4):1311-1317. doi: 10.1007/s12253-017-0370-8. Epub 2017 Dec 5.
    • Polymorphism of DNA Repair Genes via Homologous Recombination (HR) in Ovarian Cancer.
    • Smolarz B, Michalska MM, Samulak D, Romanowicz H, Wójcik L.
    • Pathol Oncol Res. 2019 Oct;25(4):1607-1614. doi: 10.1007/s12253-019-00604-5. Epub 2019 Feb 2.
    • Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study.
    • Staaf J, Glodzik D, Bosch A, Vallon-Christersson J, Reuterswärd C, Häkkinen J, Degasperi A, Amarante TD, Saal LH, Hegardt C, Stobart H, Ehinger A, Larsson C, Rydén L, Loman N, Malmberg M, Kvist A, Ehrencrona H, Davies HR, Borg Å, Nik-Zainal S.
    • Nat Med. 2019 Sep 30. doi: 10.1038/s41591-019-0582-4. [Epub ahead of print]
    • Novel BRCA2 pathogenic genotype and breast cancer phenotype discordance in monozygotic triplets.
    • Duzkale N, Eyerci N, Oksuzoglu B, Teker T, Kandemir O.
    • Eur J Med Genet. 2019 Sep 26:103771. doi: 10.1016/j.ejmg.2019.103771. [Epub ahead of print]
    • Case report
    • Reproductive characteristics are associated with gene-specific promoter methylation status in breast cancer.
    • McCullough LE, Collin LJ, Conway K, White AJ, Cho YH, Shantakumar S, Terry MB, Teitelbaum SL, Neugut AI, Santella RM, Chen J, Gammon MD.
    • BMC Cancer. 2019 Sep 18;19(1):926. doi: 10.1186/s12885-019-6120-4.
    • GWAS of five gynecologic diseases and cross-trait analysis in Japanese.
    • Masuda T, Low SK, Akiyama M, Hirata M, Ueda Y, Matsuda K, Kimura T, Murakami Y, Kubo M, Kamatani Y, Okada Y.
    • Eur J Hum Genet. 2019 Sep 5. doi: 10.1038/s41431-019-0495-1. [Epub ahead of print]
    • Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility.
    • Keupp K, Hampp S, Hübbel A, Maringa M, Kostezka S, Rhiem K, Waha A, Wappenschmidt B, Pujol R, Surrallés J, Schmutzler RK, Wiesmüller L, Hahnen E.
    • Mol Genet Genomic Med. 2019 Sep;7(9):e863. doi: 10.1002/mgg3.863. Epub 2019 Jul 25.
    • Identifying Methylation Pattern and Genes Associated with Breast Cancer Subtypes.
    • Chen L, Zeng T, Pan X, Zhang YH, Huang T, Cai YD.
    • Int J Mol Sci. 2019 Aug 31;20(17). pii: E4269. doi: 10.3390/ijms20174269.
    • BRCA1 promoter methylation in peripheral blood is associated with the risk of triple-negative breast cancer.
    • Prajzendanc K, Domagała P, Hybiak J, Ryś J, Huzarski T, Szwiec M, Tomiczek-Szwiec J, Redelbach W, Sejda A, Gronwald J, Kluz T, Wiśniowski R, Cybulski C, Łukomska A, Białkowska K, Sukiennicki G, Kulczycka K, Narod SA, Wojdacz TK, Lubiński J, Jakubowska A.
    • Int J Cancer. 2019 Aug 30. doi: 10.1002/ijc.32655. [Epub ahead of print]
    • Correlation between Candidate Single Nucleotide Variants and Several Clinicopathological Risk Factors Related to Breast Cancer in Jordanian Women: A Genotype-Phenotype Study.
    • Al-Eitan LN, Rababa'h DM, Alghamdi MA, Khasawneh RH.
    • J Cancer. 2019 Aug 8;10(19):4647-4654. doi: 10.7150/jca.33857. eCollection 2019.
    • Targeted short read sequencing and assembly of re-arrangements and candidate gene loci provide megabase diplotypes.
    • Shin G, Greer SU, Xia LC, Lee H, Zhou J, Boles TC, Ji HP.
    • Nucleic Acids Res. 2019 Jul 27. pii: gkz661. doi: 10.1093/nar/gkz661. [Epub ahead of print]
    • Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.
    • Montalban G, Bonache S, Moles-Fernández A, Gadea N, Tenés A, Torres-Esquius S, Carrasco E, Balmaña J, Diez O, Gutiérrez-Enríquez S.
    • Hum Mutat. 2019 Jul 25. doi: 10.1002/humu.23882. [Epub ahead of print]
    • Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls.
    • Arvai KJ, Roberts ME, Torene RI, Susswein LR, Marshall ML, Zhang Z, Carter NJ, Yackowski L, Rinella ES, Klein RT, Hruska KS, Retterer K.
    • Hered Cancer Clin Pract. 2019 Jul 15;17:19. doi: 10.1186/s13053-019-0119-3. eCollection 2019.
    • Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.
    • Brandão RD, Mensaert K, López-Perolio I, Tserpelis D, Xenakis M, Lattimore V, Walker LC, Kvist A, Vega A, Gutiérrez-Enríquez S, Díez O; KConFaB Investigators, de la Hoya M, Spurdle AB, De Meyer T, Blok MJ.
    • Int J Cancer. 2019 Jul 15;145(2):401-414. doi: 10.1002/ijc.32114. Epub 2019 Feb 7.
    • Targeted deep sequencing revealed variants in cell-free DNA of hormone receptor-positive metastatic breast cancer patients.
    • Keup C, Benyaa K, Hauch S, Sprenger-Haussels M, Tewes M, Mach P, Bittner AK, Kimmig R, Hahn P, Kasimir-Bauer S.
    • Cell Mol Life Sci. 2019 Jun 28. doi: 10.1007/s00018-019-03189-z. [Epub ahead of print]
    • Night Shift Work, DNA Methylation and Telomere Length: An Investigation on Hospital Female Nurses.
    • Carugno M, Maggioni C, Crespi E, Bonzini M, Cuocina S, Dioni L, Tarantini L, Consonni D, Ferrari L, Pesatori AC.
    • Int J Environ Res Public Health. 2019 Jun 28;16(13). pii: E2292. doi: 10.3390/ijerph16132292.
    • Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso.
    • Sagna T, Bonora E, Ouedraogo MNL, Fusco D, Zoure AA, Bisseye C, Djigma F, Kafando JG, Zongo N, Douamba Z, Obiri-Yeboah D, Turchetti D, Pietra V, Lompo OM, Ouedraogo C, Seri M, Simpore J.
    • Biomol Concepts. 2019 Jun 11;10(1):120-127. doi: 10.1515/bmc-2019-0015.
    • Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
    • Liyanage UE, Law MH, Han X, An J, Ong JS, Gharahkhani P, Gordon S, Neale RE, Olsen CM, MacGregor S, Whiteman DC.
    • Hum Mol Genet. 2019 Jun 7. pii: ddz121. doi: 10.1093/hmg/ddz121. [Epub ahead of print]
    • Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
    • Tsaousis GN, Papadopoulou E, Apessos A, Agiannitopoulos K, Pepe G, Kampouri S, Diamantopoulos N, Floros T, Iosifidou R, Katopodi O, Koumarianou A, Markopoulos C, Papazisis K, Venizelos V, Xanthakis I, Xepapadakis G, Banu E, Eniu DT, Negru S, Stanculeanu DL, Ungureanu A, Ozmen V, Tansan S, Tekinel M, Yalcin S, Nasioulas G.
    • BMC Cancer. 2019 Jun 3;19(1):535. doi: 10.1186/s12885-019-5756-4.
    • Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.
    • Fraile-Bethencourt E, Valenzuela-Palomo A, Díez-Gómez B, Caloca MJ, Gómez-Barrero S, Velasco EA.
    • Front Genet. 2019 May 28;10:503. doi: 10.3389/fgene.2019.00503. eCollection 2019.
    • Development of Peritoneal Carcinoma in women diagnosed with Serous Tubal Intraepithelial Carcinoma (STIC) following Risk-Reducing Salpingo-Oophorectomy (RRSO).
    • Stanciu PI, Ind TEJ, Barton DPJ, Butler JB, Vroobel KM, Attygalle AD, Nobbenhuis MAE.
    • J Ovarian Res. 2019 May 25;12(1):50. doi: 10.1186/s13048-019-0525-1.
    • BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.
    • Padilla N, Moles-Fernández A, Riera C, Montalban G, Özkan S, Ootes L, Bonache S, Díez O, Gutiérrez-Enríquez S, de la Cruz X.
    • Hum Mutat. 2019 May 21. doi: 10.1002/humu.23802. [Epub ahead of print]
    • Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.
    • Nones K, Johnson J, Newell F, Patch AM, Thorne H, Kazakoff SH, de Luca XM, Parsons MT, Ferguson K, Reid L, Reed AEM, Srihari S, Lakis V, Davidson AL, Mukhopadhyay P, Holmes O, Xu Q, Wood S, Leonard C; Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab); Australian Breast Cancer Tissue Bank (ABCTB); Brisbane Breast Bank (BBB), Beesley J, Harris J, Barnes D, Degasperi A, Ragan MA, Spurdle AB, Khanna KK, Lakhani SR, Pearson JV, Nik-Zainal S, Chenevix-Trench G, Waddell N, Simpson PT.
    • Ann Oncol. 2019 May 15. pii: mdz132. doi: 10.1093/annonc/mdz132. [Epub ahead of print]

    Editorial:

    Journey's End: the quest for BRCA-like hereditary breast cancer genes is nearly over.

    • Screening for hereditary cancers in patients with endometrial cancer reveals a high frequency of germline mutations in cancer predisposition genes.
    • Tian W, Bi R, Ren Y, He H, Shi S, Shan B, Yang W, Wang Q, Wang H.
    • Int J Cancer. 2019 May 4. doi: 10.1002/ijc.32389. [Epub ahead of print]
    • Clinical background and outcomes of risk-reducing salpingo-oophorectomy for hereditary breast and ovarian cancers in Japan.
    • Nomura H, Sekine M, Yokoyama S, Arai M, Enomoto T, Takeshima N, Nakamura S.
    • Int J Clin Oncol. 2019 May 4. doi: 10.1007/s10147-019-01456-4. [Epub ahead of print]
    • EZH2 is overexpressed in BRCA1-like breast tumors and predictive for sensitivity to high-dose platinum-based chemotherapy.
    • Puppe J, Opdam M, Schouten PC, Jóźwiak K, Lips EH, Severson T, van de Ven M, Brambillasca CS, Bouwman P, van Tellingen O, Bernards R, Wesseling J, Eichler C, Thangarajah F, Malter W, Pandey GK, Ozretić L, Caldas C, van Lohuizen M, Hauptmann M, Rhiem K, Hahnen E, Reinhardt HC, Büttner R, Mallmann P, Schömig-Markiefka B, Schmutzler RK, Linn SC, Jonkers J.
    • Clin Cancer Res. 2019 Apr 29. pii: clincanres.4024.2018. doi: 10.1158/1078-0432.CCR-18-4024. [Epub ahead of print]
    • Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs).
    • Talukdar S, Hawkes L, Hanson H, Kulkarni A, Brady AF, McMullan DJ, Ahn JW, Woodward E, Turnbull C; UK Association for Clinical Genomic Science and UK Cancer Genetics Group.
    • J Med Genet. 2019 Apr 24. pii: jmedgenet-2018-105820. doi: 10.1136/jmedgenet-2018-105820. [Epub ahead of print]
    • Guidelines
    • A reference system for BRCA mutation detection based on next-generation sequencing in the Chinese population.
    • Qu S, Chen Q, Yi Y, Shao K, Zhang W, Wang Y, Bai J, Li X, Liu Z, Wang X, Jing R, Guan Y, Yi X, Yan M, Cao B, Chen F, Zhu S, Yang X, Wu Y, Huang J.
    • J Mol Diagn. 2019 Apr 23. pii: S1525-1578(18)30284-8. doi: 10.1016/j.jmoldx.2019.03.003. [Epub ahead of print]
    • Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883).
    • Hauke J, Hahnen E, Schneider S, Reuss A, Richters L, Kommoss S, Heimbach A, Marmé F, Schmidt S, Prieske K, Gevensleben H, Burges A, Borde J, De Gregorio N, Nürnberg P, El-Balat A, Thiele H, Hilpert F, Altmüller J, Meier W, Dietrich D, Kimmig R, Schoemig-Markiefka B, Kast K, Braicu E, Baumann K, Jackisch C, Park-Simon TW, Ernst C, Hanker L, Pfisterer J, Schnelzer A, du Bois A, Schmutzler RK, Harter P.
    • J Med Genet. 2019 Apr 12. pii: jmedgenet-2018-105930. doi: 10.1136/jmedgenet-2018-105930. [Epub ahead of print]
    • Multi-region sequencing unveils novel actionable targets and spatial heterogeneity in esophageal squamous cell carcinoma.
    • Yan T, Cui H, Zhou Y, Yang B, Kong P, Zhang Y, Liu Y, Wang B, Cheng Y, Li J, Guo S, Xu E, Liu H, Cheng C, Zhang L, Chen L, Zhuang X, Qian Y, Yang J, Ma Y, Li H, Wang F, Liu J, Liu X, Su D, Wang Y, Sun R, Guo S, Li Y, Cheng X, Liu Z, Zhan Q, Cui Y.
    • Nat Commun. 2019 Apr 11;10(1):1670. doi: 10.1038/s41467-019-09255-1.
    • Epigenetic modulation of BRCA-1 and MGMT genes, and histones H4 and H3 are associated with breast tumors.
    • Paydar P, Asadikaram G, Nejad HZ, Akbari H, Abolhassani M, Moazed V, Nematollahi MH, Ebrahimi G, Fallah H.
    • J Cell Biochem. 2019 Apr 2. doi: 10.1002/jcb.28645. [Epub ahead of print]
    • Clinicopathological analysis of homologous recombination-deficient breast cancers with special reference to response to neoadjuvant paclitaxel followed by FEC.
    • Imanishi S, Naoi Y, Shimazu K, Shimoda M, Kagara N, Tanei T, Miyake T, Kim SJ, Noguchi S.
    • Breast Cancer Res Treat. 2019 Apr;174(3):627-637. doi: 10.1007/s10549-018-05120-9. Epub 2019 Jan 3.
    • Rapid reversal of clinical down-classification of a BRCA1 splicing variant avoiding psychological harm.
    • Smith MJ, Woodward ER, Burghel GJ, Banks C, Morgan RD, Wallace AJ, Turnbull C, Evans DG.
    • Clin Genet. 2019 Apr;95(4):532-533. doi: 10.1111/cge.13488. Epub 2018 Dec 26.
    • Letter
    • Association between BRCA1 polymorphisms rs799917 and rs1799966 and breast cancer risk: a meta-analysis.
    • Yang M, Du X, Zhang F, Yuan S.
    • J Int Med Res. 2019 Apr;47(4):1409-1416. doi: 10.1177/0300060519826819. Epub 2019 Mar 5.
    • Risk Haplotypes Uniquely Associated with Radioiodine-Refractory Thyroid Cancer Patients of High African Ancestry.
    • Hurst Z, Liyanarachchi S, He H, Brock P, Sipos J, Nabhan F, Kebebew E, Green P, Cote GJ, Sherman S, Walker CJ, Chang YS, Xue S, Hollingsworth B, Li W, Genutis L, Menq E, de la Chapelle A, Jhiang SM.
    • Thyroid. 2019 Apr;29(4):530-539. doi: 10.1089/thy.2018.0687. Epub 2019 Feb 13.
    • Constitutional Mosaic Epimutations - a hidden cause of cancer?
    • Lønning PE, Eikesdal HP, Løes IM, Knappskog S.
    • Cell Stress. 2019 Mar 22;3(4):118-135. doi: 10.15698/cst2019.04.183.
    • Retrospective study of a 16 year cohort of BRCA1 and BRCA2 carriers presenting for RRSO: Prevalence of invasive and in-situ carcinoma, with follow-up. 
    • Blok F, Dasgupta S, Dinjens WNM, Roes EM, van Beekhuizen HJ, Ewing-Graham PC.
    • Gynecol Oncol. 2019 Mar 18. pii: S0090-8258(19)30151-9. doi: 10.1016/j.ygyno.2019.03.003. [Epub ahead of print]
    • Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.
    • Fraile-Bethencourt E, Valenzuela-Palomo A, Díez-Gómez B, Goina E, Acedo A, Buratti E, Velasco EA.
    • J Pathol. 2019 Mar 18. doi: 10.1002/path.5268. [Epub ahead of print]
    • BRCA2 in Ovarian Development and Function.
    • Qin Y, Zhang F, Chen ZJ.
    • N Engl J Med. 2019 Mar 14;380(11):1086. doi: 10.1056/NEJMc1813800.
    • Letter, Case report, Comment

    Original research:

    Essential Role of BRCA2 in Ovarian Development and Function.

    Letter, Comment:

    BRCA2 in Ovarian Development and Function.

    Letter, Reply:

    BRCA2 in Ovarian Development and Function. Reply.

    • Uterine cancer in Jewish Israeli BRCA1/2 mutation carriers.
    • Laitman Y, Michaelson-Cohen R, Levi E, Chen-Shtoyerman R, Reish O, Josefsberg Ben-Yehoshua S, Bernstein-Molho R, Keinan-Boker L, Rosengarten O, Silverman BG, Perri T, Korach J, Mor P, Ephrat Ben-Baruch N, Levy Lahad E, Friedman E; Israeli Consortium of Hereditary Breast Cancer.
    • Cancer. 2019 Mar 1;125(5):698-703. doi: 10.1002/cncr.31842. Epub 2018 Nov 29.
    • Novel Associations between BRCA1 Variants C.181 T>G (Rs28897672) and Ovarian Crisk in Saudi Females.
    • Alyahri N, Abdi S, Khan W, Elrobh M, Addar MH, Babay ZA, Alanazi M, Aldaihan S, Shaik J, Arafah M, Parine NR, Warsy A.
    • J Med Biochem. 2019 Mar 1;38(1):13-21. doi: 10.2478/jomb-2018-0037. eCollection 2019 Mar.
    • BRCA Exchange Launches.
    • [No authors listed]
    • Cancer Discov. 2019 Mar;9(3):311-312. doi: 10.1158/2159-8290.CD-NB2019-008. Epub 2019 Jan 24.
    • News
    • A Novel Mutation-BRCA1 Associated Hereditary Haplotype of Intragenic Markers of BRCA1 Gene in a Family with History of Breast Cancer.
    • Miresmaeili SM, Jafari F.
    • Asian Pac J Cancer Prev. 2019 Feb 26;20(2):611-614.
    • Quantifying BRCA1 and BRCA2 mRNA Isoform Expression Levels in Single Cells.
    • Lattimore VL, Pearson JF, Morley-Bunker AE, Investigators K, Spurdle AB, Robinson BA, Currie MJ, Walker LC.
    • Int J Mol Sci. 2019 Feb 6;20(3). pii: E693. doi: 10.3390/ijms20030693.
    • Modulation of homologous recombination repair gene polymorphisms on genetic damage in chromate exposed workers.
    • Long C, Liu J, Hu G, Feng H, Zhou D, Wang J, Zhai X, Zhao Z, Yu S, Wang T, Jia G.
    • Environ Toxicol Pharmacol. 2019 Feb;66:126-132. doi: 10.1016/j.etap.2019.01.004. Epub 2019 Jan 16.
    • Evaluation of the BRCAness phenotype and its correlations with clinicopathological features in triple-negative breast cancers.
    • Tian T, Shan L, Yang W, Zhou X, Shui R.
    • Hum Pathol. 2019 Feb;84:231-238. doi: 10.1016/j.humpath.2018.10.004. Epub 2018 Oct 16.
    • BRCA1 promoter methylation is linked to defective homologous recombination repair and elevated miR-155 to disrupt myeloid differentiation in myeloid malignancies.
    • Poh W, Dilley RL, Moliterno A, Maciejewski JP, Pratz KW, McDevitt MA, Herman JG.
    • Clin Cancer Res. 2019 Jan 28. pii: clincanres.0179.2018. doi: 10.1158/1078-0432.CCR-18-0179. [Epub ahead of print]
    • Molecular and epigenetic profiles of BRCA1-like hormone-receptor-positive breast tumors identified with development and application of a copy-number-based classifier.
    • Chen Y, Wang Y, Salas LA, Miller TW, Mark K, Marotti JD, Kettenbach AN, Cheng C, Christensen BC.
    • Breast Cancer Res. 2019 Jan 25;21(1):14. doi: 10.1186/s13058-018-1090-z.
    • Glucocorticoid receptor expression is associated with inferior overall survival independent of BRCA mutation status in ovarian cancer.
    • Veneris JT, Huang L, Churpek JE, Conzen SD, Fleming GF.
    • Int J Gynecol Cancer. 2019 Jan 25. pii: ijgc-2018-000101. doi: 10.1136/ijgc-2018-000101. [Epub ahead of print]
    • Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.
    • Fernández-Lopez JC, Romero-Córdoba S, Rebollar-Vega R, Alfaro-Ruiz LA, Jiménez-Morales S, Beltrán-Anaya F, Arellano-Llamas R, Cedro-Tanda A, Rios-Romero M, Ramirez-Florencio M, Bautista-Piña V, Dominguez-Reyes C, Villegas-Carlos F, Tenorio-Torres A, Hidalgo-Miranda A.
    • Hum Genomics. 2019 Jan 10;13(1):3. doi: 10.1186/s40246-018-0188-9.
    • Constitutive BRCA1 Promoter Hypermethylation Can Be a Predisposing Event in Isolated Early-Onset Breast Cancer.
    • Azzollini J, Pesenti C, Pizzamiglio S, Fontana L, Guarino C, Peissel B, Plebani M, Tabano S, Sirchia SM, Colapietro P, Villa R, Paolini B, Verderio P, Miozzo M, Manoukian S.
    • Cancers (Basel). 2019 Jan 9;11(1). pii: E58. doi: 10.3390/cancers11010058.
    • Prevalence and oncologic outcomes of BRCA 1/2 mutations in unselected triple-negative breast cancer patients in Korea.
    • Ryu JM, Choi HJ, Kim I, Nam SJ, Kim SW, Yu J, Lee SK, Choi DH, Park YH, Kim JW, Seo JS, Park JH, Lee JE, Kim SW; Korean Hereditary Breast Cancer Study Group.
    • Breast Cancer Res Treat. 2019 Jan;173(2):385-395. doi: 10.1007/s10549-018-5015-4. Epub 2018 Oct 22.
    • Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant.
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    Letter:

    Differences in the Neanderthal BRCA2 gene might be related to their distinctive cognitive profile.

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    Original research:

    Methylation of BRCA1 and MGMT genes in white blood cells are transmitted from mothers to daughters.

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    Letter, Comment, Case report:

    BRCA2 in Ovarian Development and Function.

    Letter, Comment:

    BRCA2 in Ovarian Development and Function.

    Letter, Reply:

    BRCA2 in Ovarian Development and Function. Reply.

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    Letter, Commentary:

    BRCA1 methylation in newborns: genetic disposition, maternal transfer, environmental influence, or by chance only?

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    Press: Normal-tissue BRCA1 Methylation May Occur Before Birth, Raise Ovarian Cancer Risk. (Medscape/Reuters Health)

    Press: Commentary: Is This 'Provocative Finding' Related to Serous Ovarian Cancer? (Medscape Oncology)

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    Retraction of Publication:

    Retraction Note to: The BRCA2 variant c.68-7 T > A is associated with breast cancer.

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    News:

    New perspectives for colorectal cancer.

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    • Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing.
    • Cheng DT, Prasad M, Chekaluk Y, Benayed R, Sadowska J, Zehir A, Syed A, Wang YE, Somar J, Li Y, Yelskaya Z, Wong D, Robson ME, Offit K, Berger MF, Nafa K, Ladanyi M, Zhang L.
    • BMC Med Genomics. 2017 May 19;10(1):33. doi: 10.1186/s12920-017-0271-4.
    • Pitfalls in genetic testing: a case of a SNP in primer-annealing region leading to allele dropout in BRCA1.
    • Silva FC, Torrezan GT, Brianese RC, Stabellini R, Carraro DM.
    • Mol Genet Genomic Med. 2017 May 11;5(4):443-447. doi: 10.1002/mgg3.295. eCollection 2017 Jul.
    • Evaluating genetic variants associated with breast cancer risk in high and moderate-penetrance genes in Asians.
    • Han MR, Zheng W, Cai Q, Gao YT, Zheng Y, Bolla MK, Michailidou K, Dennis J, Wang Q, Dunning AM, Brennan P, Chen ST, Choi JY, Hartman M, Ito H, Lophatananon A, Matsuo K, Miao H, Muir K, Sangrajrang S, Shen CY, Teo SH, Tseng CC, Wu AH, Yip CH, Kang D, Xiang YB, Easton DF, Shu XO, Long J.
    • Carcinogenesis. 2017 May 1;38(5):511-518. doi: 10.1093/carcin/bgx010.
    • Candidate Gene Analysis of Breast Cancer in the Jordanian Population of Arab Descent: A Case-Control Study.
    • Al-Eitan LN, Jamous RI, Khasawneh RH.
    • Cancer Invest. 2017 Apr 21;35(4):256-270. doi: 10.1080/07357907.2017.1289217. Epub 2017 Mar 8.
    • Next Generation Sequencing Reveals High Prevalence of BRCA1 and BRCA2 Variants of Unknown Significance in Early-Onset Breast Cancer in African American Women.
    • Ricks-Santi L, McDonald JT, Gold B, Dean M, Thompson N, Abbas M, Wilson B, Kanaan Y, Naab TJ, Dunston G.
    • Ethn Dis. 2017 Apr 20;27(2):169-178. doi: 10.18865/ed.27.2.169. eCollection 2017 Spring.
    • Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.
    • Fraile-Bethencourt E, Díez-Gómez B, Velásquez-Zapata V, Acedo A, Sanz DJ, Velasco EA.
    • PLoS Genet. 2017 Mar 24;13(3):e1006691. doi: 10.1371/journal.pgen.1006691. eCollection 2017 Mar.
    • [Analysis of DNA Methylation in BRCA2 Gene Using Electrode Biochips].
    • Bartošík M, Bartáková D.
    • Klin Onkol. 2017 Spring;30(Supplementum1):149-152.
    • Association of BRCA1, BRCA2, RAD51, and HER2 gene polymorphisms with the breast cancer risk in the Bangladeshi population.
    • Parvin S, Islam MS, Al-Mamun MM, Islam MS, Ahmed MU, Kabir ER, Hasnat A.
    • Breast Cancer. 2017 Mar;24(2):229-237. doi: 10.1007/s12282-016-0692-5. Epub 2016 Apr 11.
    • First description of a double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient: A case report.
    • Meynard G, Mansi L, Lebahar P, Villanueva C, Klajer E, Calcagno F, Vivalta A, Chaix M, Collonge-Rame MA, Populaire C, Algros MP, Colpart P, Neidich J, Pivot X, Curtit E.
    • Oncol Rep. 2017 Mar;37(3):1573-1578. doi: 10.3892/or.2017.5422. Epub 2017 Feb 3.
    • Case report
    • Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies.
    • Azzollini J, Pesenti C, Ferrari L, Fontana L, Calvello M, Peissel B, Portera G, Tabano S, Carcangiu ML, Riva P, Miozzo M, Manoukian S.
    • PLoS One. 2017 Feb 15;12(2):e0171663. doi: 10.1371/journal.pone.0171663. eCollection 2017.
    • An Exploratory Study to Determine Whether BRCA1 and BRCA2 Mutation Carriers Have Higher Risk of Cardiac Toxicity.
    • Sajjad M, Fradley M, Sun W, Kim J, Zhao X, Pal T, Md RI.
    • Genes (Basel). 2017 Feb 2;8(2). pii: E59. doi: 10.3390/genes8020059.
    • A new case of "de novo" BRCA1 mutation in a patient with early-onset breast cancer.
    • Antonucci I, Provenzano M, Sorino L, Rodrigues M, Palka G, Stuppia L.
    • Clin Case Rep. 2017 Jan 28;5(3):238-240. doi: 10.1002/ccr3.718. eCollection 2017.
    • Genetic and epigenetic characterization of the BRCA1 gene in Brazilian women at-risk for hereditary breast cancer.
    • Felicio PS, Melendez ME, Arantes LM, Kerr LM, Carraro DM, Grasel RS, Campacci N, Scapulatempo-Neto C, Fernandes GC, de Carvalho AC, Palmero EI.
    • Oncotarget. 2017 Jan 10;8(2):2850-2862. doi: 10.18632/oncotarget.13750.
    • New variants in the BRCA1 gene in Buryat Mongol breast cancer patients: Report from two families.
    • Cherdyntseva N, Gervas P, Voropaeva E, Denisov E, Pisareva L, Malinovskaya E, Maksimov V, Voevoda M, Perinov D, Panferova Y, Cherdyntsev E, Choynzonov E.
    • Cancer Biomark. 2017;18(3):291-296. doi: 10.3233/CBM-161649.
    • A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA.
    • Esposito MV, Nunziato M, Starnone F, Telese A, Calabrese A, D'Aiuto G, Pucci P, D'Aiuto M, Baralle F, D'Argenio V, Salvatore F.
    • Int J Mol Sci. 2016 Dec 21;17(12). pii: E2145. doi: 10.3390/ijms17122145.
    • rs15869 at miRNA binding site in BRCA2 is associated with breast cancer susceptibility.
    • Cao J, Luo C, Yan R, Peng R, Wang K, Wang P, Ye H, Song C.
    • Med Oncol. 2016 Dec;33(12):135. Epub 2016 Nov 2.
    • Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.
    • Rebbeck TR, Friebel TM, Mitra N, Wan F, Chen S, Andrulis IL, Apostolou P, Arnold N, Arun BK, Barrowdale D, Benitez J, Berger R, Berthet P, Borg A, Buys SS, Caldes T, Carter J, Chiquette J, Claes KB, Couch FJ, Cybulski C, Daly MB, de la Hoya M, Diez O, Domchek SM, Nathanson KL, Durda K, Ellis S; EMBRACE, Evans DG, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Glendon G, Godwin AK, Greene MH, Gronwald J, Hahnen E, Hallberg E, Hamann U, Hansen TV; HEBON, Imyanitov EN, Isaacs C, Jakubowska A, Janavicius R, Jaworska-Bieniek K, John EM, Karlan BY, Kaufman B, Investigators K, Kwong A, Laitman Y, Lasset C, Lazaro C, Lester J, Loman N, Lubinski J, Manoukian S, Mitchell G, Montagna M, Neuhausen SL, Nevanlinna H, Niederacher D, Nussbaum RL, Offit K, Olah E, Olopade OI, Park SK, Piedmonte M, Radice P, Rappaport-Fuerhauser C, Rookus MA, Seynaeve C, Simard J, Singer CF, Soucy P, Southey M, Stoppa-Lyonnet D, Sukiennicki G, Szabo CI, Tancredi M, Teixeira MR, Teo SH, Terry MB, Thomassen M, Tihomirova L, Tischkowitz M, Toland AE, Toloczko-Grabarek A, Tung N, van Rensburg EJ, Villano D, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Zidan J, Zorn KK, McGuffog L, Easton D, Chenevix-Trench G, Antoniou AC, Ramus SJ.
    • Breast Cancer Res. 2016 Nov 11;18(1):112.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: BRCA2 and PALB2 mutation

    • Rare Variation in TET2 Is Associated with Clinically Relevant Prostate Carcinoma in African-Americans.
    • Koboldt DC, Kanchi KL, Gui B, Larson DE, Fulton R, Isaacs WB, Kraja A, Borecki IB, Jia L, Wilson RK, Mardis ER, Kibel AS.
    • Cancer Epidemiol Biomarkers Prev. 2016 Nov;25(11):1456-1463. Epub 2016 Aug 2.
    • Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.
    • Byers H, Wallis Y, van Veen EM, Lalloo F, Reay K, Smith P, Wallace AJ, Bowers N, Newman WG, Evans DG.
    • Eur J Hum Genet. 2016 Nov;24(11):1591-1597. doi: 10.1038/ejhg.2016.57. Epub 2016 Jun 8.
    • STIC-ing with what we know.
    • Chen LM.
    • Gynecol Oncol. 2016 Nov;143(2):227-228. doi: 10.1016/j.ygyno.2016.10.007.
    • Editorial
    • Genetic landscape of a case of extraovarian peritoneal serous papillary carcinoma.
    • Cheng Z, Yang W, Guo J, Luo N, Chen L, Xie Y, Qu X, Hu L, Dai H, Zuo X.
    • Oncol Lett. 2016 Oct;12(4):2395-2402. Epub 2016 Aug 2.
    • Rare variants in BRCA2 and CHEK2 are associated with the risk of urinary tract cancers.
    • Ge Y, Wang Y, Shao W, Jin J, Du M, Ma G, Chu H, Wang M, Zhang Z.
    • Sci Rep. 2016 Sep 16;6:33542. doi: 10.1038/srep33542.
    • Mutation screening of MIR146A/B and BRCA1/2 3'-UTRs in the GENESIS study.
    • Garcia AI, Buisson M, Damiola F, Tessereau C, Barjhoux L, Verny-Pierre C, Sornin V, Dondon MG, Eon-Marchais S; GENESIS investigators, Caron O, Gautier-Villars M, Coupier I, Buecher B, Vennin P, Belotti M, Lortholary A, Gesta P, Dugast C, Noguès C, Fricker JP, Faivre L, Stoppa-Lyonnet D, Andrieu N, Sinilnikova OM, Mazoyer S.
    • Eur J Hum Genet. 2016 Aug;24(9):1324-9. doi: 10.1038/ejhg.2015.284. Epub 2016 Jan 20.
    • Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
    • Fackenthal JD, Yoshimatsu T, Zhang B, de Garibay GR, Colombo M, De Vecchi G, Ayoub SC, Lal K, Olopade OI, Vega A, Santamariña M, Blanco A, Wappenschmidt B, Becker A, Houdayer C, Walker LC, López-Perolio I, Thomassen M, Parsons M, Whiley P, Blok MJ, Brandão RD, Tserpelis D, Baralle D, Montalban G, Gutiérrez-Enríquez S, Díez O, Lazaro C; kConFaB Investigators, Spurdle AB, Radice P, de la Hoya M.
    • J Med Genet. 2016 Aug;53(8):548-558. doi: 10.1136/jmedgenet-2015-103570. Epub 2016 Apr 8.

    Press: Naturally Occurring BRCA2 Alternative mRNA Splicing Events in Clinically Relevant Samples. (Medscape Oncology)

    • Multi-gene Testing Increases Complexity of Counseling Women at Risk of Breast and Ovarian Cancer.
    • Hughes, D
    • Cancer Therapy Advisor. Breast Cancer Advisor. 2016 Jul 6.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: VUS

    • Pyrosequencing quantified methylation level of BRCA1 promoter as prognostic factor for survival in breast cancer patient.
    • Cai FF, Chen S, Wang MH, Lin XY, Zhang L, Zhang JX, Wang LX, Yang J, Ding JH, Pan X, Shao ZM, Biskup E.
    • Oncotarget. 2016 May 10;7(19):27499-510. doi: 10.18632/oncotarget.8355.
    • BRCA1 and BRCA2 sequence variations detected with next-generation sequencing in patients with premature ovarian insufficiency.
    • Yılmaz NK, Karagin PH, Terzi YK, Kahyaoğlu İ, Yılmaz S, Erkaya S, Şahin Fİ.
    • J Turk Ger Gynecol Assoc. 2016 Jan 12;17(2):77-82. doi: 10.5152/jtgga.2016.16035. eCollection [2016 Jun;].
    • Common variation in BRCA1 may have a role in progression to lethal prostate cancer after radiation treatment.
    • Sanchez A, Schoenfeld JD, Nguyen PL, Fiorentino M, Chowdhury D, Stampfer MJ, Sesso HD, Giovannucci E, Mucci LA, Shui IM.
    • Prostate Cancer Prostatic Dis. 2016 Jun;19(2):197-201. doi: 10.1038/pcan.2016.4. Epub 2016 Mar 1.
    • BRCA2 minor transcript lacking exons4-7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation.
    • Thirthagiri E, Klarmann KD, Shukla AK, Southon E, Biswas K, Martin BK, North SL, Magidson V, Burkett S, Haines DC, Noer K, Matthai R, Tessarollo L, Loncarek J, Keller JR, Sharan SK.
    • Hum Mol Genet. 2016 May 15;25(10):1934-1945. Epub 2016 Feb 26.
    • Polymorphism rs144848 in BRCA2 may reduce lung cancer risk in women: a case-control study in southeast China.
    • Lin Y, He F, Zhang X, Yu T, Liu Z, Cai L.
    • Tumori. 2016 Apr 18;102(2):150-5. doi: 10.5301/tj.5000473. Epub 2016 Feb 15.
    • A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.
    • Mucaki EJ, Caminsky NG, Perri AM, Lu R, Laederach A, Halvorsen M, Knoll JH, Rogan PK.
    • BMC Med Genomics. 2016 Apr 11;9(1):19. doi: 10.1186/s12920-016-0178-5.
    • Haplotype analysis of BRCA1 intragenic markers in Iranian patients with familial breast and ovarian cancer.
    • Miresmaeili SM, Kordi Tamandani DM, Kalantar SM, Moshtaghioun SM.
    • Int J Reprod Biomed (Yazd). 2016 Apr;14(4):271-4.
    • Identification and frequency of the rs12516 and rs8176318 BRCA1 gene polymorphisms among different populations.
    • Yang F, Chen F, Xu J, Guan X.
    • Oncol Lett. 2016 Apr;11(4):2481-2486. Epub 2016 Feb 19.
    • Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations.
    • Golmard L, Delnatte C, Laugé A, Moncoutier V, Lefol C, Abidallah K, Tenreiro H, Copigny F, Giraudeau M, Guy C, Barbaroux C, Amorim G, Briaux A, Guibert V, Tarabeux J, Caputo S, Collet A, Gesta P, Ingster O, Stern MH, Rouleau E, de Pauw A, Gauthier-Villars M, Buecher B, Bézieau S, Stoppa-Lyonnet D, Houdayer C.
    • Oncogene. 2016 Mar 10;35(10):1324-7. doi: 10.1038/onc.2015.181. Epub 2015 Jun 1.
    • When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans.
    • Wong-Brown M, McPhillips M, Gleeson M, Spigelman AD, Meldrum CJ, Dooley S, Scott RJ.
    • Hered Cancer Clin Pract. 2016 Feb 16;14:6. doi: 10.1186/s13053-015-0045-y. eCollection 2016.
    • Mutation screening of MIR146A/B and BRCA1/2 3'-UTRs in the GENESIS study.
    • Garcia AI, Buisson M, Damiola F, Tessereau C, Barjhoux L, Verny-Pierre C, Sornin V, Dondon MG, Eon-Marchais S; GENESIS investigators, Caron O, Gautier-Villars M, Coupier I, Buecher B, Vennin P, Belotti M, Lortholary A, Gesta P, Dugast C, Noguès C, Fricker JP, Faivre L, Stoppa-Lyonnet D, Andrieu N, Sinilnikova OM, Mazoyer S.
    • Eur J Hum Genet. 2016 Jan 20. doi: 10.1038/ejhg.2015.284. [Epub ahead of print]
    • BRCA1 and TP53 Gene-Mutations: Family Predisposition and Radioecological Risk of Developing Breast Cancer.
    • Apsalikov B, Manambaeva Z, Ospanov E, Massabayeva M, Zhabagin K, Zhagiparova Z, Maximov V, Voropaeva E, Apsalikov K, Belikhina T, Abdrahmanov R, Cherepkova E, Tanatarov S, Massadykov A, Urazalina N.
    • Asian Pac J Cancer Prev. 2016;17(8):4059-62.
    • Haplotype Analysis of BRCA1 Gene D17S855 and D17S1322 Markers in Iranian Familial Breast Cancer Patients.
    • Miresmaeili SM, Kordi DM, Moshtaghiun SM.
    • Asian Pac J Cancer Prev. 2016;17(7):3615-7.
    • BRCA1 Gene Mutation Screening for the Hereditary Breast and/or Ovarian Cancer Syndrome in Breast Cancer Cases: a First High Resolution DNA Melting Analysis in Indonesia.
    • Mundhofir FE, Wulandari CE, Prajoko YW, Winarni TI.
    • Asian Pac J Cancer Prev. 2016;17(3):1539-46.
    • Patterns and functional implications of rare germline variants across 12 cancer types.
    • Lu C, Xie M, Wendl MC, Wang J, McLellan MD, Leiserson MD, Huang KL, Wyczalkowski MA, Jayasinghe R, Banerjee T, Ning J, Tripathi P, Zhang Q, Niu B, Ye K, Schmidt HK, Fulton RS, McMichael JF, Batra P, Kandoth C, Bharadwaj M, Koboldt DC, Miller CA, Kanchi KL, Eldred JM, Larson DE, Welch JS, You M, Ozenberger BA, Govindan R, Walter MJ, Ellis MJ, Mardis ER, Graubert TA, Dipersio JF, Ley TJ, Wilson RK, Goodfellow PJ, Raphael BJ, Chen F, Johnson KJ, Parvin JD, Ding L.
    • Nat Commun. 2015 Dec 22;6:10086. doi: 10.1038/ncomms10086.

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

    • Association of BRCA1 promoter methylation with sporadic breast cancers: Evidence from 40 studies.
    • Zhang L, Long X.
    • Sci Rep. 2015 Dec 8;5:17869. doi: 10.1038/srep17869.
    • [Correlation anslysis of sporadic breast cancer and BRCA1 gene plymorphisms in the Han Nationality and the Mongol Nationality of Inner Mongolia Region].
    • Ma J, Liu M, Zhang X, BuRi G.
    • Zhonghua Yi Xue Za Zhi. 2015 Dec;95(46):3746-3749.
    • [Article in Chinese]
    • Analyze Association of BRCA2 Arg372His Polymorphism With Ovarian Cancer Risk.
    • Wang C, Yuan C.
    • Int J Gynecol Cancer. 2015 Oct;25(8):1338-44. doi: 10.1097/IGC.0000000000000499.
    • Meta-Analysis
    • Double Heterozygosity of BRCA2 and STK11 in Familial Breast Cancer Detected by Exome Sequencing.
    • Ataei-Kachouei M, Nadaf J, Akbari MT, Atri M, Majewski J, Riazalhosseini Y, Garshasbi M.
    • Iran J Public Health. 2015 Oct;44(10):1348-1352.
    • BRCA2 N372H Polymorphism and Risk of Epithelial Ovarian Cancer: An Updated Meta-Analysis With 2344 Cases and 9672 Controls.
    • Su L, Wang J, Tao Y, Shao X, Ding Y, Cheng X, Zhu Y.
    • Medicine (Baltimore). 2015 Oct;94(42):e1695. doi: 10.1097/MD.0000000000001695.
    • A novel BRCA2 in frame deletion in a Tunisian woman with early onset sporadic breast cancer.
    • Hadiji-Abbes N, Trifa F, Choura M, Khabir A, Sellami-Boudawara T, Frikha M, Daoud J, Mokdad-Gargouri R.
    • Pathol Biol (Paris). 2015 Sep;63(4-5):185-9. doi: 10.1016/j.patbio.2015.07.009. Epub 2015 Aug 29.
    • Case report
    • RE: BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.
    • Arbustini E, Sgarella A, Ferrari A, Grasso D, Cassani C, Lucioni M, Di Giulio G, Grasso M.
    • J Natl Cancer Inst. 2016 Aug 31;108(12). pii: djw172. doi: 10.1093/jnci/djw172. Print 2016 Dec.
    • Letter

    Letter, Reply

    Response.

    • Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma.
    • Kim HS, Lee SW, Choi YJ, Shin SW, Kim YH, Cho MS, Lee SN, Park KH.
    • Cancer Res Treat. 2015 Jul;47(3):534-8. doi: 10.4143/crt.2013.151. Epub 2014 Oct 17.
    • Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer.
    • Hernan I, Mañé B, Borràs E, de Sousa Dias M, Llort G, Yagüe C, Gamundi MJ, Arcusa À, Carballo M.
    • Clin Transl Oncol. 2015 Jul;17(7):576-80. doi: 10.1007/s12094-014-1271-x. Epub 2015 Jan 14.
    • Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup.
    • Miele E, Mastronuzzi A, Po A, Carai A, Alfano V, Serra A, Colafati GS, Strocchio L, Antonelli M, Buttarelli FR, Zani M, Ferraro S, Buffone A, Vacca A, Screpanti I, Giangaspero F, Giannini G, Locatelli F, Ferretti E.
    • Biomark Res. 2015 Jun 6;3:13. doi: 10.1186/s40364-015-0038-z. eCollection 2015.
    • 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.
    • Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing.
    • Ratajska M, Krygier M, Stukan M, Kuźniacka A, Koczkowska M, Dudziak M, Śniadecki M, Dębniak J, Wydra D, Brozek I, Biernat W, Borg A, Limon J, Wasąg B.
    • J Appl Genet. 2015 May;56(2):193-8. doi: 10.1007/s13353-014-0254-5. Epub 2014 Nov 1.
    • A Rare Truncating BRCA2 Variant and Genetic Susceptibility to Upper Aerodigestive Tract Cancer.
    • Delahaye-Sourdeix M, Anantharaman D, Timofeeva MN, Gaborieau V, Chabrier A, Vallée MP, Lagiou P, Holcátová I, Richiardi L, Kjaerheim K, Agudo A, Castellsagué X, Macfarlane TV, Barzan L, Canova C, Thakker NS, Conway DI, Znaor A, Healy CM, Ahrens W, Zaridze D, Szeszenia-Dabrowska N, Lissowska J, Fabianova E, Mates IN, Bencko V, Foretova L, Janout V, Curado MP, Koifman S, Menezes A, Wünsch-Filho V, Eluf-Neto J, Boffetta P, Fernández Garrote L, Polesel J, Lener M, Jaworowska E, Lubiński J, Boccia S, Rajkumar T, Samant TA, Mahimkar MB, Matsuo K, Franceschi S, Byrnes G, Brennan P, McKay JD.
    • J Natl Cancer Inst. 2015 Apr 2;107(5). pii: djv037. doi: 10.1093/jnci/djv037. Print 2015 May.

    Comment / Editorial

    BRCA2-Branching Out Too?

    News

    BRCA2 variant aerodigestive cancer risk.

    • 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.
    • Characterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer and a family history of breast and/or ovarian cancer who tested negative for pathogenic mutations.
    • Gambino G, Tancredi M, Falaschi E, Aretini P, Caligo MA.
    • Int J Mol Med. 2015 Apr;35(4):950-6. doi: 10.3892/ijmm.2015.2103. Epub 2015 Feb 16.
    • Analysis of BRCA1 and mtDNA haplotypes and mtDNA polymorphism in familial breast cancer.
    • Gutiérrez Povedano C, Salgado J, Gil C, Robles M, Patiño-García A, García-Foncillas J.
    • Mitochondrial DNA. 2015 Apr;26(2):227-31. doi: 10.3109/19401736.2013.825773. Epub 2013 Aug 28.
    • Possible association of the BRCA2 gene C5972T variant with gastric cancer: a study on Polish population.
    • Ławniczak M, Jakubowska A, Białek A, Karpińska-Kaczmarczyk K, Lubiński J, Starzyńska T.
    • Pol Arch Med Wewn. 2015 Feb 27;125(1-2):39-45. Epub 2015 Dec 23.
    • Low-level constitutional mosaicism of a de novoBRCA1 gene mutation.
    • Friedman E, Efrat N, Soussan-Gutman L, Dvir A, Kaplan Y, Ekstein T, Nykamp K, Powers M, Rabideau M, Sorenson J, Topper S.
    • Br J Cancer. 2015 Feb 17;112(4):765-768. doi: 10.1038/bjc.2015.14. Epub 2015 Jan 29.
    • Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype.
    • Sawyer SL, Tian L, Kähkönen M, Schwartzentruber J, Kircher M, Majewski J, Dyment DA, Innes AM, Boycott KM, Moreau LA, Moilanen JS, Greenberg RA; University of Washington Centre for Mendelian Genomics.
    • Cancer Discov. 2015 Feb;5(2):135-42. doi: 10.1158/2159-8290.CD-14-1156. Epub 2014 Dec 3.
    • BRCA1 alterations are associated with endometriosis, but BRCA2 alterations show no detectable endometriosis risk: a study in Indian population.
    • Govatati S, Challa K, Reddy SB, Pramod K, Deenadayal M, Chakravarty B, Shivaji S, Bhanoori M.
    • J Assist Reprod Genet. 2015 Feb;32(2):277-85. doi: 10.1007/s10815-014-0379-9. Epub 2014 Nov 8.
    • BRCA1 polymorphism in breast cancer patients from Argentina.
    • Jaure O, Alonso EN, Braico DA, Nieto A, Orozco M, Morelli C, Ferro AM, Barutta E, Vincent E, Martínez D, Martínez I, Maegli MI, Frizza A, Kowalyzyn R, Salvadori M, Ginestet P, Gonzalez Donna ML, Balogh GA.
    • Oncol Lett. 2015 Feb;9(2):845-850. Epub 2014 Dec 5.
    • 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.
    • Association of genetic polymorphisms in AURKA, BRCA1, CCNE1 and CDK2 with the risk of endometrial carcinoma and clinicopathological parameters among Chinese Han women.
    • Zheng LY, Song AP, Chen L, Liu DG, Li XH, Guo HY, Tian XX, Fang WG.
    • Eur J Obstet Gynecol Reprod Biol. 2015 Jan;184:65-72. doi: 10.1016/j.ejogrb.2014.11.001. Epub 2014 Nov 20.
    • 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.
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    • Androgen receptor, EGFR, and BRCA1 as biomarkers in triple-negative breast cancer: a meta-analysis.
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    • Genetic counseling for fanconi anemia: crosslinking disciplines.
    • Zierhut HA, Tryon R, Sanborn EM.
    • J Genet Couns. 2014 Dec;23(6):910-21. doi: 10.1007/s10897-014-9754-z. Epub 2014 Sep 20.
    • Review

    Research news: Fanconi Anemia: Genetic Counseling Research (Perspectives in Genetic Counseling)

    Source

    • 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

    • Wild-type genotypes of BRCA1 gene SNPs combined with micro-RNA over-expression in mammary tissue leading to familial breast cancer with an increased risk of distant metastases' occurrence.
    • Medimegh I, Troudi W, Stambouli N, Khodjet-El-Khil H, Baroudi O, Ayari H, Omrane I, Uhrhammer N, Privat M, Mezlini A, Ayed FB, Romdhane KB, Mader S, Bignon YJ, Elgaaied AB.
    • Med Oncol. 2014 Nov;31(11):255. doi: 10.1007/s12032-014-0255-6. Epub 2014 Oct 2.
    • 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)

    • Variants in the ATM-CHEK2-BRCA1 axis determine genetic predisposition and clinical presentation of papillary thyroid carcinoma.
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    • Genes Chromosomes Cancer. 2014 Jun;53(6):516-23. doi: 10.1002/gcc.22162. Epub 2014 Mar 6.
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    • Association of BRCA2 variants with cardiovascular disease in Saudi Arabia.
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    • Carcinogenesis. 2014 May;35(5):1012-9. doi: 10.1093/carcin/bgt404. Epub 2013 Dec 9.
    • Next-generation sequencing of BRCA1 and BRCA2 in breast cancer patients and control subjects.
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    • Polymorphisms in DNA repair genes and MDR1 and the risk for non-Hodgkin lymphoma.
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    • Int J Mol Sci. 2014 Apr 21;15(4):6703-16. doi: 10.3390/ijms15046703.
    • 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.
    • 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.
    • A Novel Splice Site Mutation in the Noncoding Region of BRCA2: Implications for Fanconi Anemia and Familial Breast Cancer Diagnostics.
    • Bakker JL, Thirthagiri E, van Mil SE, Adank MA, Ikeda H, Verheul HM, Meijers-Heijboer H, de Winter JP, Sharan SK, Waisfisz Q.
    • Hum Mutat. 2014 Apr;35(4):442-6. doi: 10.1002/humu.22505. Epub 2014 Feb 15.
    • Hereditary risk evaluation for borderline ovarian tumors based on immunohistochemistry.
    • Park JM, Kim MK.
    • J Menopausal Med. 2014 Apr;20(1):14-20. doi: 10.6118/jmm.2014.20.1.14. Epub 2014 Apr 28.
    • Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling.
    • Meyer S, Tischkowitz M, Chandler K, Gillespie A, Birch JM, Evans DG.
    • J Med Genet. 2014 Feb;51(2):71-5. doi: 10.1136/jmedgenet-2013-101642. Epub 2013 Nov 20.
    • 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.
    • Genetic risk transmission in a family affected by familial breast cancer.
    • Pilato B, De Summa S, Danza K, Lacalamita R, Lambo R, Sambiasi D, Paradiso A, Tommasi S.
    • J Hum Genet. 2014 Jan;59(1):51-3. doi: 10.1038/jhg.2013.109. Epub 2013 Oct 24.
    • Evaluation of Genetic Variations in miRNA-Binding Sites of BRCA1 and BRCA2 Genes as Risk Factors for the Development of Early-Onset and/or Familial Breast Cancer.
    • Erturk E, Cecener G, Polatkan V, Gokgoz S, Egeli U, Tunca B, Tezcan G, Demirdogen E, Ak S, Tasdelen I.
    • Asian Pac J Cancer Prev. 2014;15(19):8319-24.
    • Association of the BRCA1 promoter polymorphism rs11655505 with the risk of familial breast and/or ovarian cancer.
    • Bielinska B, Gaj P, Kluska A, Nowakowska D, Balabas A, Dabrowska M, Niwinska A, Gruchota J, Zub R, Skasko E, Steffen J, Ostrowski J, Siedlecki JA.
    • Fam Cancer. 2013 Dec;12(4):691-8. doi: 10.1007/s10689-013-9647-6.
    • Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements
    • Di Giacomo D, Gaildrat P, Abuli A, Abdat J, Frébourg T, Tosi M, Martins A.
    • Hum Mutat. 2013 Nov;34(11):1547-1557. doi: 10.1002/humu.22428. Epub 2013 Sep 18.
    • Genetic polymorphisms in AURKA, BRCA1, CCNE1 and CDK2 are associated with ovarian cancer susceptibility among Chinese Han women.
    • Zheng L, Song A, Ruan Y, Chen L, Liu D, Li X, Guo H, Han J, Li Y, Tian X, Fang W.
    • Cancer Epidemiol. 2013 Oct;37(5):639-46. doi: 10.1016/j.canep.2013.04.018. Epub 2013 Jun 18.
    • A functional BRCA1 coding sequence genetic variant contributes to risk of esophageal squamous cell carcinoma.
    • Zhang X, Wei J, Zhou L, Zhou C, Shi J, Yuan Q, Yang M, Lin D.
    • Carcinogenesis. 2013 Oct;34(10):2309-13. doi: 10.1093/carcin/bgt213. Epub 2013 Jun 8.
    • A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report.
    • Salgado J, Santisteban M, Gutiérrez C, Gil C, Robles M, Viedma A, Patiño-García A.
    • Oncol Lett. 2013 Sep;6(3):725-727. Epub 2013 Jul 3.
    • Assessment of the Prognostic Value of Two Common Variants of BRCA1 and BRCA2 Genes in Ovarian Cancer Patients Treated with Cisplatin and Paclitaxel: A Gynecologic Oncology Group Study.
    • Tian CQ, Darcy KM, Krivak TC, Deloia JA, Armstrong D, Davis W, Zhao H, Moysich K, Ambrosone CB.
    • Front Oncol. 2013 Aug 12;3:206. doi: 10.3389/fonc.2013.00206. eCollection 2013.
    • Association of BRCA1 promoter methylation with rs11655505 (c.2265C>T) variants and decreased gene expression in sporadic breast cancer.
    • Hasan TN, Leena Grace B, Shafi G, Syed R.
    • Clin Transl Oncol. 2013 Jul;15(7):555-62. doi: 10.1007/s12094-012-0968-y. Epub 2012 Dec 21.
    • BRCA1 polymorphisms and breast cancer epidemiology in the Western New York exposures and breast cancer (WEB) study.
    • Ricks-Santi LJ, Nie J, Marian C, Ochs-Balcom HM, Trevisan M, Edge SB, Freudenheim JL, Shields PG.
    • Genet Epidemiol. 2013 Jul;37(5):504-11. doi: 10.1002/gepi.21730. Epub 2013 May 14.
    • Identification of a non-canonical nuclear localization signal (NLS) in BRCA1 that could mediate nuclear localization of splice variants lacking the classical NLS.
    • Korlimarla A, Bhandary L, Prabhu JS, Shankar H, Sankaranarayanan H, Kumar P, Remacle J, Natarajan D, Sridhar TS.
    • Cell Mol Biol Lett. 2013 Jun;18(2):284-96. doi: 10.2478/s11658-013-0088-x. Epub 2013 May 15.
    • BRCA1/2 mutation analysis in 41 ovarian cell lines reveals only one functionally deleterious BRCA1 mutation.
    • Stordal B, Timms K, Farrelly A, Gallagher D, Busschots S, Renaud M, Thery J, Williams D, Potter J, Tran T, Korpanty G, Cremona M, Carey M, Li J, Li Y, Aslan O, O'Leary JJ, Mills GB, Hennessy BT.
    • Mol Oncol. 2013 Jun;7(3):567-79. doi: 10.1016/j.molonc.2012.12.007. Epub 2013 Jan 31.
    • 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.

    • Identification of common variants in BRCA2 and MAP2K4 for susceptibility to sporadic pancreatic cancer.
    • Huang L, Wu C, Yu D, Wang C, Che X, Miao X, Zhai K, Chang J, Jiang G, Yang X, Cao G, Hu Z, Zhou Y, Zuo C, Wang C, Zhang X, Zhou Y, Yu X, Dai W, Li Z, Shen H, Liu L, Chen Y, Zhang S, Wang X, Liu Y, Sun M, Cao W, Gao J, Ma Y, Zheng X, Cheung ST, Jia Y, Tan W, Wu T, Lin D.
    • Carcinogenesis. 2013 May;34(5):1001-5. doi: 10.1093/carcin/bgt004. Epub 2013 Jan 8.
    • Methylation of BRCA1 promoter region is associated with unfavorable prognosis in women with early-stage breast cancer.
    • Hsu NC, Huang YF, Yokoyama KK, Chu PY, Chen FM, Hou MF.
    • PLoS One. 2013;8(2):e56256. doi: 10.1371/journal.pone.0056256. Epub 2013 Feb 6.
    • Epigenetic inactivation of BRCA1 through promoter hypermethylation in ovarian cancer progression.
    • Wang YQ, Yan Q, Zhang JR, Li SD, Yang YX, Wan XP.
    • J Obstet Gynaecol Res. 2013 Feb;39(2):549-54. doi: 10.1111/j.1447-0756.2012.01979.x. Epub 2012 Sep 25.
    • Lack of association of BRCA1 and BRCA2 variants with breast cancer in an ethnic population of Saudi Arabia, an emerging high-risk area.
    • Hasan TN, Shafi G, Syed NA, Alsaif MA, Alsaif AA, Alshatwi AA.
    • Asian Pac J Cancer Prev. 2013;14(10):5671-4.
    • Hereditary genes and SNPs associated with breast cancer.
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    • Asian Pac J Cancer Prev. 2013;14(6):3403-9.
    • Low level of consanguinity in moroccan families at high risk of breast cancer.
    • Elalaoui SC, Jaouad IC, Laarabi FZ, Elgueddari Bel K.
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    • 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
    • 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.
    • Identification of fifteen novel germline variants in the BRCA1 3'UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site.
    • Brewster BL, Rossiello F, French JD, Edwards SL, Wong M, Wronski A, Whiley P, Waddell N, Chen X, Bove B, Kconfab, Hopper JL, John EM, Andrulis I, Daly M, Volorio S, Bernard L, Peissel B, Manoukian S, Barile M, Pizzamiglio S, Verderio P, Spurdle AB, Radice P, Godwin AK, Southey MC, Brown MA, Peterlongo P.
    • Hum Mutat. 2012 Dec;33(12):1665-75. doi: 10.1002/humu.22159. Epub 2012 Aug 2.
    • 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.
    • BRCA2 promoter hypermethylation in sporadic breast cancer.
    • Bosviel R, Durif J, Guo J, Mebrek M, Kwiatkowski F, Bignon YJ, Bernard-Gallon DJ.
    • OMICS. 2012 Dec;16(12):707-10. doi: 10.1089/omi.2012.0060.
    • Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer.
    • Hansmann T, Pliushch G, Leubner M, Kroll P, Endt D, Gehrig A, Preisler-Adams S, Wieacker P, Haaf T.
    • Hum Mol Genet. 2012 Nov 1;21(21):4669-79. doi: 10.1093/hmg/dds308. Epub 2012 Jul 27.
    • BRCA1 epigenetic inactivation predicts sensitivity to platinum-based chemotherapy in breast and ovarian cancer.
    • Stefansson OA, Villanueva A, Vidal A, Martí L, Esteller M.
    • Epigenetics. 2012 Nov;7(11):1225-9. doi: 10.4161/epi.22561. Epub 2012 Oct 15.
    • BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy.
    • Anczuków O, Buisson M, Léoné M, Coutanson C, Lasset C, Calender A, Sinilnikova OM, Mazoyer S.
    • Clin Cancer Res. 2012 Sep 15;18(18):4903-9. doi: 10.1158/1078-0432.CCR-12-1100. Epub 2012 Jul 2.

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: BRCA2- new mutation deep in the intron of exon 12?

    Comment:

    Hidden Dangers: A Cryptic Exon Disrupts BRCA2 mRNA.

    • Solitary brain metastasis in a patient with ovarian cancer with BRCA2 mutation.
    • Root K, Armaghany T.
    • J Clin Oncol. 2012 Sep 1;30(25):e239-40. doi: 10.1200/JCO.2011.41.5919. Epub 2012 Jul 2.
    • Methylation profiles of the BRCA1 promoter in hereditary and sporadic breast cancer among Han Chinese.
    • Pang D, Zhao Y, Xue W, Shan M, Chen Y, Zhang Y, Zhang G, Liu F, Li D, Yang Y.
    • Med Oncol. 2012 Sep;29(3):1561-8. doi: 10.1007/s12032-011-0100-0. Epub 2011 Nov 11.
    • Functional single-nucleotide polymorphisms in the BRCA1 gene and risk of salivary gland carcinoma.
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    • Oral Oncol. 2012 Sep;48(9):842-7. doi: 10.1016/j.oraloncology.2012.03.012. Epub 2012 Apr 12.
    • BRCA1-methylated sporadic breast cancers are BRCA-like in showing a basal phenotype and absence of ER expression.
    • Bal A, Verma S, Joshi K, Singla A, Thakur R, Arora S, Singh G.
    • Virchows Arch. 2012 Sep;461(3):305-12. doi: 10.1007/s00428-012-1286-z. Epub 2012 Jul 21.
    • 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.
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    • 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)

    • BRCA2 variants and cardiovascular disease in a multi-ethnic study.
    • Zbuk K, Xie C, Young R, Heydarpour M, Pare G, Davis AD, Miller R, Lanktree MB, Saleheen D, Danesh J, Yusuf S, Engert JC, Hegele RA, Anand SS.
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    • Association of follicular lymphoma risk with BRCA2 N372H polymorphism in Slovak population.
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    • Effects on human transcriptome of mutated BRCA1 BRCT domain: a microarray study.
    • Iofrida C, Melissari E, Mariotti V, Guglielmi C, Guidugli L, Caligo MA, Pellegrini S.
    • BMC Cancer. 2012 May 30;12:207. doi: 10.1186/1471-2407-12-207.
    • Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia.
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    • Gene. 2012 May 1;498(2):169-76. doi: 10.1016/j.gene.2012.02.010. Epub 2012 Feb 17.
    • Contribution of epigenetic alteration of BRCA1 and BRCA2 genes in breast carcinomas in Tunisian patients.
    • Ben Gacem R, Hachana M, Ziadi S, Amara K, Ksia F, Mokni M, Trimeche M.
    • Cancer Epidemiol. 2012 Apr;36(2):190-7. doi: 10.1016/j.canep.2011.09.001. Epub 2011 Oct 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.
    • Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing.
    • De Leeneer K, Coene I, Crombez B, Simkens J, Van den Broecke R, Bols A, Stragier B, Vanhoutte I, De Paepe A, Poppe B, Claes K.
    • Breast Cancer Res Treat. 2012 Feb;132(1):87-95. doi: 10.1007/s10549-011-1544-9. Epub 2011 May 7.
    • Somatic mutations in the BRCA1 gene in Chinese women with sporadic breast cancer.
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    • Breast Cancer Res Treat. 2012 Feb;132(1):335-40. doi: 10.1007/s10549-011-1887-2. Epub 2011 Nov 25.
    • Monozygotic twins discordant for constitutive BRCA1 promoter methylation, childhood cancer and secondary cancer.
    • Galetzka D, Hansmann T, El Hajj N, Weis E, Irmscher B, Ludwig M, Schneider-Rätzke B, Kohlschmidt N, Beyer V, Bartsch O, Zechner U, Spix C, Haaf T.
    • Epigenetics. 2012 Jan 1;7(1):47-54. doi: 10.4161/epi.7.1.18814. Epub 2012 Jan 1.
    • BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.
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