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    • Dr. Walden on the RNA Expression of Homologous Recombination Genes in CRC.
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    • Efficacy of Olaparib in Treatment-Refractory, Metastatic Breast Cancer with Uncommon Somatic BRCA Mutations Detected in Circulating Tumor DNA.
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    • A novel cancer risk prediction score for the natural course of FA patients with biallelic BRCA2/FANCD1 mutations.
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    • Uterine Cavity Lavage Mutation Analysis in Lithuanian Ovarian Cancer Patients.
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    • Identification of a large intra-exonic deletion in BRCA2 exon 18 in a pancreatic ductal adenocarcinoma.
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    • A systematic method for detecting abnormal mRNA splicing and assessing its clinical impact in individuals undergoing genetic testing for hereditary cancer syndromes.
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    • Clinicopathological features, genetic alterations, and BRCA1 promoter methylation in Japanese male patients with breast cancer.
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    • Homologous Recombination Deficiency and Cyclin E1 Amplification Are Correlated with Immune Cell Infiltration and Survival in High-Grade Serous Ovarian Cancer.
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    • Prognostic impact of germline BRCA1/2 pathogenic variants in breast cancer.
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    • Breast Cancer Res Treat. 2022 Nov 4. doi: 10.1007/s10549-022-06776-0. Epub ahead of print.
    • Exquisitely Platinum-Sensitive Triple-Negative Breast Cancer, Time for BRCA Methylation Testing?
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    • Case report
    • Clinical application of artificial neural network (ANN) modeling to predict BRCA1/2 germline deleterious variants in Chinese bilateral primary breast cancer patients.
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    • Methylation of promoter region of BRCA1 gene versus pathogenic variants of gene: risk factor or clinical marker of breast cancer.
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    • DNA methylation of the immediate upstream region of BRCA1 major transcription start sites is an independent favorable prognostic factor in patients with high-grade serous ovarian cancer.
    • Ebata T, Yamashita S, Takeshima H, Yoshida H, Kawata Y, Kino N, Yasugi T, Terao Y, Yonemori K, Kato T, Ushijima T.
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    • Cancer Cell. 2022 Oct 10;40(10):1223-1239.e6. doi: 10.1016/j.ccell.2022.08.013. Epub 2022 Sep 15.

    Commentary:

    Whole-genome sequencing of East Asian lung cancers reveals new germline pathogenic variants.

    • Application of Multigene Panels Testing for Hereditary Cancer Syndromes.
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    • Methylation Analyses Reveal Promoter Hypermethylation as a Rare Cause of "Second Hit" in Germline BRCA1-Associated Pancreatic Ductal Adenocarcinoma.
    • Zheng-Lin B, Rainone M, Varghese AM, Yu KH, Park W, Berger M, Mehine M, Chou J, Capanu M, Mandelker D, Stadler ZK, Birsoy O, Jairam S, Yang C, Li Y, Wong D, Benhamida JK, Ladanyi M, Zhang L, O'Reilly EM.
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    • Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.
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    • Alterations in Homologous Recombination-Related Genes and Distinct Platinum Response in Metastatic Triple-Negative Breast Cancers: A Subgroup Analysis of the ProfiLER-01 Trial.
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    • Germline Variants in 32 Cancer-Related Genes among 700 Chinese Breast Cancer Patients by Next-Generation Sequencing: A Clinic-Based, Observational Study.
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    • Increased Risk of Hereditary Prostate Cancer in Italian Families with Hereditary Breast and Ovarian Cancer Syndrome Harboring Mutations in BRCA and in Other Susceptibility Genes.
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    • Identifying the BRCA1 c.-107A > T variant in Dutch patients with a tumor BRCA1 promoter.
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    • Constitutional Mosaicism: A Critical Issue in the Definition of BRCA-Inherited Cancer Risk.
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    • Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer.
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    • Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants: application of a points-based ACMG/AMP approach.
    • Thomassen M, Mesman RLS, Hansen TVO, Menendez M, Rossing M, Esteban-Sánchez A, Tudini E, Törngren T, Parsons MT, Pedersen IS, Teo SH, Kruse TA, Møller P, Borg Å, Jensen UB, Christensen LL, Singer CF, Muhr D, Santamarina M, Brandao R, Andresen BS, Feng BJ, Canson D, Richardson ME, Karam R, Pesaran T, LaDuca H, Conner BR, Abualkheir N, Hoang L, Calléja FMGR, Andrews L, James PA, Bunyan D, Hamblett A, Radice P, Goldgar DE, Walker LC, Engel C, Claes KBM, Machácková E, Baralle D, Viel A, Wappenschmidt B, Lazaro C, Vega A, Consortium E, Vreeswijk MPG, de la Hoya M, Spurdle AB.
    • Hum Mutat. 2022 Aug 18. doi: 10.1002/humu.24449. Epub ahead of print.
    • Screening of BRCA1/2 variants in Mauritanian breast cancer patients.
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    • Genomic and epigenomic BRCA alterations predict adaptive resistance and response to platinum-based therapy in patients with triple-negative breast and ovarian carcinomas.
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    • Sci Transl Med. 2022 Jul 6;14(652):eabn1926. doi: 10.1126/scitranslmed.abn1926. Epub 2022 Jul 6.

    Research news: Breast, Ovarian Cancer Study Finds Ties Between Types of BRCA Alterations, Treatment Response. (Precision Oncology News)

    • Estimating the proportion of pathogenic variants from breast cancer case-control data: application to calibration of ACMG/AMP variant classification criteria.
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    • Hum Mutat. 2022 Jul;43(7):882-888. doi: 10.1002/humu.24357. Epub 2022 Mar 3.
    • Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions.
    • Clark KA, Paquette A, Tao K, Bell R, Boyle JL, Rosenthal J, Snow AK, Stark AW, Thompson BA, Unger J, Gertz J, Varley KE, Boucher KM, Goldgar DE, Foulkes WD, Thomas A, Tavtigian SV.
    • Am J Hum Genet. 2022 Jun 2;109(6):1153-1174. doi: 10.1016/j.ajhg.2022.05.004.
    • A BRCA1 Splice Site Variant Responsible for Familial Ovarian Cancer in a Han-Chinese Family.
    • Hu PZ, Chen XY, Xiong W, Yang ZJ, Li XR, Deng WZ, Gong LN, Deng H, Yuan LM.
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    • Case report
    • Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?
    • Lavoro A, Scalisi A, Candido S, Zanghì GN, Rizzo R, Gattuso G, Caruso G, Libra M, Falzone L.
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    • Common Variant in ALDH2 Modifies the Risk of Breast Cancer Among Carriers of the p.K3326* Variant in BRCA2.
    • Kluzniak W, Szymiczek A, Rodrigue A, Wokolorczyk D, Rusak B, Stempa K, Huzarski T, Gronwald J, Lubinski J, Zamani N, Zhang S, Masson JY, Narod SA; Polish Hereditary Breast Cancer Consortium, Cybulski C, Akbari MR.
    • JCO Precis Oncol. 2022 Apr [20];6:e2100450. doi: 10.1200/PO.21.00450.
    • Pan-cancer prognostic genetic mutations and clinicopathological factors associated with survival outcomes: a systematic review.
    • Kaubryte J, Lai AG.
    • NPJ Precis Oncol. 2022 Apr 20;6(1):27. doi: 10.1038/s41698-022-00269-5.
    • Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily.
    • Stella S, Vitale SR, Martorana F, Massimino M, Pavone G, Lanzafame K, Bianca S, Barone C, Gorgone C, Fichera M, Manzella L.
    • Cancer Manag Res. 2022 Apr 5;14:1341-1352. doi: 10.2147/CMAR.S348529.
    • Cancer in children with biallelic BRCA1 variants and Fanconi anemia-like features: Report of a malignant brain tumor in a young child.
    • Borlin PR, Brazzola P, Frontzek K, Zanoni P, Morscher RJ, Hench J, Frank S, Kottke R, Rushing EJ, Goeggel Simonetti B, Steindl K, Guerreiro Stucklin AS.
    • Pediatr Blood Cancer. 2022 Apr 4:e29680. doi: 10.1002/pbc.29680. Epub ahead of print.
    • Case report
    • Cancer Causative Mutations Occurring in Early Embryogenesis.
    • Pareja F, Ptashkin RN, Brown DN, Derakhshan F, Selenica P, da Silva EM, Gazzo AM, Da Cruz Paula A, Breen K, Shen R, Marra A, Zehir A, Benayed R, Berger MF, Ceyhan-Birsoy O, Jairam S, Sheehan M, Patel U, Kemel Y, Casanova-Murphy J, Schwartz CJ, Vahdatinia M, Comen E, Borsu L, Pei X, Riaz N, Abramson DH, Weigelt B, Walsh MF, Hadjantonakis AK, Ladanyi M, Offit K, Stadler ZK, Robson ME, Reis-Filho JS, Mandelker D.
    • Cancer Discov. 2022 Apr 1;12(4):949-957. doi: 10.1158/2159-8290.CD-21-1110.

    Commentary:

    Patchwork Cancer Predisposition.

    • A comprehensive reference for BRCA1/2 genes pathogenic variants in Iran: published, unpublished and novel.
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    • Health influenced by genetics: A first comprehensive analysis of breast cancer high and moderate penetrance susceptibility genes in the Tunisian population.
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    • Case Review: Whole-Exome Sequencing Analyses Identify Carriers of a Known Likely Pathogenic Intronic BRCA1 Variant in Ovarian Cancer Cases Clinically Negative for Pathogenic BRCA1 and BRCA2 Variants.
    • Alenezi WM, Fierheller CT, Revil T, Serruya C, Mes-Masson AM, Foulkes WD, Provencher D, El Haffaf Z, Ragoussis J, Tonin PN.
    • Genes (Basel). 2022 Apr 15;13(4):697. doi: 10.3390/genes13040697.
    • RNA Interference Induces BRCA1 Gene Methylation and Increases the Radiosensitivity of Breast Cancer Cells.
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    • Cancer Biother Radiopharm. 2022 Feb 18. doi: 10.1089/cbr.2021.0346. Epub ahead of print.
    • Reclassification of Five BRCA1/2 Variants with Unknown Significance Using Complex Functional Study.
    • Bozsik A, Papp J, Grolmusz VK, Patócs A, Oláh E, Butz H.
    • Cancer Res Treat. 2022 Feb 8. doi: 10.4143/crt.2021.1078. Epub ahead of print.
    • Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.
    • Galisa SLG, Jacob PL, Farias AA, Lemes RB, Alves LU, Nóbrega JCL, Zatz M, Santos S, Weller M.
    • Genet Mol Biol. 2022 Feb 2;45(1):e20210172. doi: 10.1590/1678-4685-GMB-2021-0172.
    • The splicing effect of variants at branchpoint elements in cancer genes.
    • Canson DM, Dumenil T, Parsons MT, O'Mara TA, Davidson AL, Okano S, Signal B, Mercer TR, Glubb DM, Spurdle AB.
    • Genet Med. 2022 Feb;24(2):398-409. doi: 10.1016/j.gim.2021.09.020. Epub 2021 Nov 30.
    • PTEN Loss and BRCA1 Promoter Hypermethylation Negatively Predict for Immunogenicity in BRCA-Deficient Ovarian Cancer.
    • Kraya AA, Maxwell KN, Eiva MA, Wubbenhorst B, Pluta J, Feldman M, Nayak A, Powell DJ Jr, Domchek SM, Vonderheide RH, Nathanson KL.
    • JCO Precis Oncol. 2022 Feb;6:e2100159. doi: 10.1200/PO.21.00159.
    • BRCA1/2 Mutations in Vietnamese Patients with Hereditary Breast and Ovarian Cancer Syndrome.
    • Le TN, Tran VK, Nguyen TT, Vo NS, Hoang TH, Vo HL, Nguyen TT, Nguyen PD, Nguyen VT, Ta TV, Tran HT.
    • Genes (Basel). 2022 Jan 29;13(2):268. doi: 10.3390/genes13020268.
    • Characterization of Synonymous BRCA1:c.132C>T as a Pathogenic Variant.
    • Li J, Wang P, Zhang C, Han S, Xiao H, Liu Z, Wang X, Liu W, Wei B, Ma J, Li H, Guo Y.
    • Front Oncol. 2022 Jan 11;11:812656. doi: 10.3389/fonc.2021.812656.
    • A catalog of curated breast cancer genes.
    • Bose M, Benada J, Thatte JV, Kinalis S, Ejlertsen B, Nielsen FC, Sørensen CS, Rossing M.
    • Breast Cancer Res Treat. 2022 Jan;191(2):431-441. doi: 10.1007/s10549-021-06441-y. Epub 2021 Nov 10.
    • BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.
    • Kharel S, Shrestha S, Yadav S, Shakya P, Baidya S, Hirachan S.
    • J Int Med Res. 2022 Jan;50(1):3000605211070757. doi: 10.1177/03000605211070757.
    • Background splicing as a predictor of aberrant splicing in genetic disease.
    • Alexieva D, Long Y, Sarkar R, Dhayan H, Bruet E, Winston Rm, Vorechovsky I, Castellano L, Dibb NJ.
    • RNA Biol. 2022 Jan;19(1):256-265. doi: 10.1080/15476286.2021.2024031.
    • Clinical significance of gene polymorphisms for hereditary predisposition to breast and ovarian cancer (review of literature).
    • Vodolazhsky DI, Mayakovskaya AV, Kubyshkin AV, Aliev KA, Fomochkina II.
    • Klin Lab Diagn. 2021 Dec 21;66(12):760-767. English. doi: 10.51620/0869-2084-2021-66-12-760-767.
    • Review
    • Germline breast cancer susceptibility genes, tumor characteristics, and survival.
    • Ho PJ, Khng AJ, Loh HW, Ho WK, Yip CH, Mohd-Taib NA, Tan VKM, Tan BK, Tan SM, Tan EY, Lim SH, Jamaris S, Sim Y, Wong FY, Ngeow J, Lim EH, Tai MC, Wijaya EA, Lee SC, Chan CW, Buhari SA, Chan PMY, Chen JJC, Seah JCM, Lee WP, Mok CW, Lim GH, Woo E, Kim SW, Lee JW, Lee MH, Park SK, Dunning AM, Easton DF, Schmidt MK, Teo SH, Li J, Hartman M.
    • Genome Med. 2021 Dec 2;13(1):185. doi: 10.1186/s13073-021-00978-9.
    • Ovarian Cancer-Specific BRCA-like Copy-Number Aberration Classifiers Detect Mutations Associated with Homologous Recombination Deficiency in the AGO-TR1 Trial.
    • Schouten PC, Richters L, Vis DJ, Kommoss S, van Dijk E, Ernst C, Kluin RJC, Marmé F, Lips EH, Schmidt S, Scheerman E, Prieske K, van Deurzen CHM, Burges A, Ewing-Graham PC, Dietrich D, Jager A, de Gregorio N, Hauke J, du Bois A, Nederlof PM, Wessels LF, Hahnen E, Harter P, Linn SC, Schmutzler RK.
    • Clin Cancer Res. 2021 Dec 1;27(23):6559-6569. doi: 10.1158/1078-0432.CCR-21-1673. Epub 2021 Sep 30.
    • Somatic mosaics in hereditary tumor predisposition syndromes.
    • Steinke-Lange V, de Putter R, Holinski-Feder E, Claes KB.
    • Eur J Med Genet. 2021 Dec;64(12):104360. doi: 10.1016/j.ejmg.2021.104360. Epub 2021 Oct 13.
    • BRCA1 promoter hypermethylation on circulating tumor DNA correlates with improved survival of patients with ovarian cancer.
    • Elazezy M, Prieske K, Kluwe L, Oliveira-Ferrer L, Peine S, Müller V, Woelber L, Schmalfeldt B, Pantel K, Joosse SA.
    • Mol Oncol. 2021 Dec;15(12):3615-3625. doi: 10.1002/1878-0261.13108. Epub 2021 Oct 12.
    • Mutations in BRCA1 or BRCA2 may increase risk for endometrial cancer.
    • [No author given]
    • FORCE. XRAY. 2021 Nov 30.

    Original research:

    Endometrial Cancer Risk in Women With Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study.

    • BRCA1/2 NGS Somatic Testing in Clinical Practice: A Short Report.
    • Pepe F, Pisapia P, Russo G, Nacchio M, Pallante P, Vigliar E, De Angelis C, Insabato L, Bellevicine C, De Placido S, Troncone G, Malapelle U.
    • Genes (Basel). 2021 Nov 28;12(12):1917. doi: 10.3390/genes12121917.
    • [Comparison of hereditary breast and ovarian cancer syndrome and sporadic ovarian cancer in ovarian cancer BRCA mutations].
    • Duan RR, Sun LX, Zhao HW.
    • Zhonghua Fu Chan Ke Za Zhi. 2021 Nov 25;56(11):788-795. Chinese. doi: 10.3760/cma.j.cn112141-20210722-00395.
    • [Article in Chinese]
    • BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients.
    • Montalban G, Bonache S, Bach V, Gisbert-Beamud A, Tenés A, Moles-Fernández A, López-Fernández A, Carrasco E, Balmaña J, Diez O, Gutiérrez-Enríquez S.
    • Cancer Genet. 2021 Nov;258-259:10-17. doi: 10.1016/j.cancergen.2021.06.003. Epub 2021 Jun 18.
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    Commentary:

    BRCA1/2 and Endometrial Cancer Risk: Implications for Management.

    Letter, Commentary:

    RE: Endometrial Cancer Risk in Women with Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study.

    Letter, Reply:

    Response to Nahshon and Lavie.

    Research news: Study: Mutations in BRCA1 or BRCA2 may increase risk for endometrial cancer. (FORCE. XRAY.)

    • RE: Endometrial Cancer Risk in Women with Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study.
    • Nahshon C, Lavie O.
    • J Natl Cancer Inst. 2021 Aug 23:djab154. doi: 10.1093/jnci/djab154. Epub ahead of print.

    Letter, Reply:

    Response to Nahshon and Lavie.

    Original research:

    Endometrial Cancer Risk in Women with Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study.

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    Editorial, Research review:

    Peripheral blood BRCA1 methylation profiling to predict familial ovarian cancer.

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    Letter, Commentary:

    RNA-Seq Analysis Is a Useful Tool in Variant Classification.

    Letter, Reply:

    Reply to R. Karam et al.

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    Research news: Polygenic Risk Score Modifies Breast Cancer Risk in Pathogenic Variant Carriers. (GenomeWeb)

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    Letter, Commentary:

    Neoadjuvant Cisplatin in BRCA Carriers With HER2-Negative Breast Cancer.

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    Original research:

    Clinical factors associated with prolonged response and survival under olaparib as maintenance therapy in BRCA mutated ovarian cancers.

    • Screening, diagnosis and genetic study of breast cancer patients in Pakistan.
    • Majeed AI, Ullah A, Jadoon M, Ahmad W, Riazuddin S.
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    • [No author given]
    • GenomeWeb. 2019 Dec 16.

    Original research:

    Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.

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

    • Characterization of splice-altering mutations in inherited predisposition to cancer.
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    • Proc Natl Acad Sci U S A. 2019 Dec 16. pii: 201915608. doi: 10.1073/pnas.1915608116. [Epub ahead of print]

    Comments from NSGC Cancer SIG Discussion Forum

    Subject: cBROCA Technology for Detecting Cancer Gene Splicing Variants Published in PNAS

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    • Clinical factors associated with prolonged response and survival under olaparib as maintenance therapy in BRCA mutated ovarian cancers.
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    Commentary:

    Are there clinical factors that can predict prolonged survival of patients receiving olaparib as maintenance therapy for BRCA-mutated ovarian cancer?

    • 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.
    • Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.
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    • 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)

    Press: Ambry Genetics Gains NYS Approval for Paired RNA, DNA Genetic Test. (GenomeWeb)

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    • 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.
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    Editorial:

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

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    • Letter
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    • 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.

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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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    • 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.
    • Tumour Biol. 2015 Jan;36(1):393-7. doi: 10.1007/s13277-014-2655-9. Epub 2014 Sep 30.
    • 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.
    • 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.
    • Wójcicka A, Czetwertyńska M, Świerniak M, Długosińska J, Maciąg M, Czajka A, Dymecka K, Kubiak A, Kot A, Płoski R, de la Chapelle A, Jażdżewski K.
    • Genes Chromosomes Cancer. 2014 Jun;53(6):516-23. doi: 10.1002/gcc.22162. Epub 2014 Mar 6.
    • Association of DNA repair and cell cycle gene variations with breast cancer risk in Northeast Indian population: a multiple interaction analysis.
    • Wasson MK, Chauhan PS, Singh LC, Katara D, Dev Sharma J, Zomawia E, Kataki A, Kapur S, Saxena S.
    • Tumour Biol. 2014 Jun;35(6):5885-94. doi: 10.1007/s13277-014-1779-2. Epub 2014 Mar 7.
    • Association of BRCA2 variants with cardiovascular disease in Saudi Arabia.
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    Editorial:

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

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    • Lack of association of BRCA1 and BRCA2 variants with breast cancer in an ethnic population of Saudi Arabia, an emerging high-risk area.
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    • Conference abstract
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    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.

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

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