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    Related:

    Press: Gene Panel Finds Pathogenic Variants Missed by Standard Tests in 5 Percent of Familial Cancer Cases. (GenomeWeb)

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    Related:

    Press: Hereditary Cancer Risk Variants Found in Significant Subset of Metastatic Breast Cancer Patients. (GenomeWeb)

    Research news: Inherited Mutations In Metastatic Breast Cancer Patients. (FORCE. XRAYS.)

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    Related:

    Guidelines:

    Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement.

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    Related:

    Original research:

    BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis.

    Letter, Reply:

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    Related:

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    Press: Pediatric Lymphoma Joins Family of BRCA2 Cancers. (Medscape Oncology)

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    • Hum Mutat. 2019 May 21. doi: 10.1002/humu.23804. [Epub ahead of print]
    • BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.
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    • Insights Into Breast Cancer in the East vs the West: A Review.
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    • Review
    • 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.
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    Related:

    Editorial:

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

    • Analysis of clinical characteristics of breast cancer patients with the Japanese founder mutation BRCA1 L63X.
    • Yoshida R, Watanabe C, Yokoyama S, Inuzuka M, Yotsumoto J, Arai M, Nakamura S, the Registration Committee of the Japanese HBOC consortium.
    • Oncotarget. 2019 May 14;10(35):3276-3284. doi: 10.18632/oncotarget.26852. eCollection 2019 May 14.
    • Universal tumor DNA BRCA1/2 testing of ovarian cancer: prescreening PARPi treatment and genetic predisposition.
    • Vos JR, Fakkert IE, de Hullu JA, van Altena AM, Sie AS, Ouchene H, Willems RW, Nagtegaal ID, Jongmans MCJ, Mensenkamp AR, Woldringh GH, Bulten J, Leter EM, Kets CM, Simons M, Ligtenberg MJL, Hoogerbrugge N.
    • J Natl Cancer Inst. 2019 May 11. pii: djz080. doi: 10.1093/jnci/djz080. [Epub ahead of print]

    Related:

    Letter, Comment:

    RE: Universal tumor DNA BRCA1/2 testing of ovarian cancer: prescreening PARPi treatment and genetic predisposition.

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    Related:

    Research news: DNA-Repair- Gene Mutations Linked to More Aggressive Prostate Cancer. (Medscape Oncology)

    • Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes.
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    • High prevalence of cancer-associated TP53 variants in the gnomAD database: A word of caution concerning the use of variant filtering.
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    • Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases.
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    Related:

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

    • Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients.
    • Kurian AW, Ward KC, Howlader N, Deapen D, Hamilton AS, Mariotto A, Miller D, Penberthy LS, Katz SJ.
    • J Clin Oncol. 2019 Apr 9:JCO1801854. doi: 10.1200/JCO.18.01854. [Epub ahead of print]

    Related:

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

    • Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high-risk breast cancer.
    • Wang X, Liu H, Maimaitiaili A, Zhao G, Li S, Lv Z, Wu D, Shi A, Guan X, Jia H, Li M, Song D, Kang L, Han B, Fu T, Yang M, Zhu Z, Du Y, Song Y, Hong J, Fan Z.
    • Mol Genet Genomic Med. 2019 Apr 9:e677. doi: 10.1002/mgg3.677. [Epub ahead of print]
    • 23andMe DTC Breast and Ovarian Cancer Risk Test Misses Almost 90 Percent of BRCA Mutation Carriers.
    • Karow J.
    • Precision Oncology News. 2019 Apr 5.
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    • Germline BRCA1 Deletion as Driver Mutation for Metastatic Urachal Adenocarcinoma in Patient Who Achieved Complete Response to Rucaparib.
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    • Case report
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    • RE: Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.
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    Related:

    Letter, reply:

    Response to Peshkin, Isaacs, and Schwartz.

    Original research:

    Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.

    • Prevalence of BRCA founder mutations in Bahamian women.
    • [No author given]
    • FORCE. XRAYS. 2019 Mar 4.

    Related:

    Original research:

    Prevalence of founder mutations in the BRCA1 and BRCA2 genes among unaffected women from the Bahamas.

    • Prevalence, spectrum and founder effect of BRCA1 and BRCA2 mutations in Epithelial Ovarian Cancer from Middle East.
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    • Cancer. 2019 Mar 1;125(5):690-697. doi: 10.1002/cncr.31856. Epub 2018 Nov 27.
    • Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.
    • Gelli E, Colombo M, Pinto AM, De Vecchi G, Foglia C, Amitrano S, Morbidoni V, Imperatore V, Manoukian S, Baldassarri M, Lo Rizzo C, Catania L, Frullanti E, Tagliafico E, Cortesi L, Spaggiari F, Mencarelli MA, Trevisson E, Radice P, Renieri A, Ariani F.
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    • News
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    • Review
    • Alterations in ERBB2 and BRCA and microsatellite instability as new personalized treatment options in small bowel carcinoma.
    • Quaas A, Heydt C, Waldschmidt D, Alakus H, Zander T, Goeser T, Kasper P, Bruns C, Brunn A, Roth W, Hartmann N, Bunck A, Schmidt M, Buettner R, Merkelbach-Bruse S.
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    • RE: BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis.
    • Katona BW, Stadler ZK, Robson ME, Domchek SM.
    • J Natl Cancer Inst. 2019 Feb 4. doi: 10.1093/jnci/djz012. [Epub ahead of print]

    Related:

    Original research:

    BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis.

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    • Identifying breast cancer susceptibility genes - a review of the genetic background in familial breast cancer.
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    • Oestrogen receptor status and survival in women with BRCA2-associated breast cancer.
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    • A Pragmatic Testing-Eligibility Framework for Population Mutation Screening: The Example of BRCA1/2.
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    • Novel pleiotropic BRCA2 pathogenic variants in Lebanese families.
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    • Case report
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    • BRCA mutation screening and patterns among high-risk Lebanese subjects.
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    • Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS).
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    • A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study.
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    • 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.
    • Germline TP53 and MSH6 mutations implicated in sporadic triple-negative breast cancer (TNBC): a preliminary study.
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    • Synchronous Ovarian and Breast Cancers with a Novel Variant in BRCA2 Gene: A Case Report.
    • Llinás-Quintero N, Cabrera-Florez E, Mendoza-Fandiño G, Matute-Turizo G, Vasquez-Trespalacios EM, Gallón-Villegas LJ.
    • Case Rep Oncol Med. 2019 Jan 6;2019:6958952. doi: 10.1155/2019/6958952. eCollection 2019.
    • Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil.
    • Cotrim DP, Ribeiro ARG, Paixão D, de Queiroz Soares DC, Jbili R, Pandolfi NC, Cezana C, de Cássia Mauro C, Mantoan H, Bovolim G, de Brot L, Torrezan GT, Carraro DM, Baiocchi G, da Cruz Formiga MN, da Costa AABA.
    • BMC Cancer. 2019 Jan 3;19(1):4. doi: 10.1186/s12885-018-5235-3.
    • Germline Mutations in BRCA1 and BRCA2 in Breast Cancer Patients with High Genetic Risk in Turkish Population.
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    • Int J Breast Cancer. 2019 Jan 1;2019:9645147. doi: 10.1155/2019/9645147. eCollection 2019.
    • Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.
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    Related:

    Letter, comment:

    RE: Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.

    Letter, reply:

    Response to Peshkin, Isaacs, and Schwartz.

    • 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.
    • BRCA mutations: is everything said?
    • López-Urrutia E, Salazar-Rojas V, Brito-Elías L, Coca-González M, Silva-García J, Sánchez-Marín D, Campos-Parra AD, Pérez-Plasencia C.
    • Breast Cancer Res Treat. 2019 Jan;173(1):49-54. doi: 10.1007/s10549-018-4986-5. Epub 2018 Oct 6.
    • Review
    • Different Patterns of Risk Reducing Decisions in Affected or Unaffected BRCA Pathogenic Variant Carriers.
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    • Cancer Res Treat. 2019 Jan;51(1):280-288. doi: 10.4143/crt.2018.079. Epub 2018 May 4.
    • Clinical and pathologic characteristics of breast cancer patients carrying the c.3481_3491del11 mutation.
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    • Capillary electrophoresis as alternative method to detect tumor genetic mutations: the model built on the founder BRCA1 c.4964_4982del19 variant.
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    • Fam Cancer. 2019 Jan;18(1):29-35. doi: 10.1007/s10689-018-0094-2.
    • The clinical importance of BRCAness in a population-based cohort of Danish epithelial ovarian cancer.
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    • Targeted sequencing to discover germline variants in the BRCA1 and BRCA2 genes in a Russian population and their association with breast cancer risk.
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    • Mutat Res. 2019 Jan;813:51-57. doi: 10.1016/j.mrfmmm.2018.12.005. Epub 2018 Dec 29.
    • BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
    • Cline MS, Liao RG, Parsons MT, Paten B, Alquaddoomi F, Antoniou A, Baxter S, Brody L, Cook-Deegan R, Coffin A, Couch FJ, Craft B, Currie R, Dlott CC, Dolman L, den Dunnen JT, Dyke SOM, Domchek SM, Easton D, Fischmann Z, Foulkes WD, Garber J, Goldgar D, Goldman MJ, Goodhand P, Harrison S, Haussler D, Kato K, Knoppers B, Markello C, Nussbaum R, Offit K, Plon SE, Rashbass J, Rehm HL, Robson M, Rubinstein WS, Stoppa-Lyonnet D, Tavtigian S, Thorogood A, Zhang C, Zimmermann M; BRCA Challenge Authors, Burn J, Chanock S, Rätsch G, Spurdle AB.
    • PLoS Genet. 2018 Dec 26;14(12):e1007752. doi: 10.1371/journal.pgen.1007752. eCollection 2018 Dec.

    Related:

    Research news:

    Quick Uptakes: Taking the Uncertainty Out of Interpreting BRCA Variants.

    • Histopathological patterns of primary malignant ovarian neoplasms in different age groups in Almadinah Almunawwarah region, KSA.
    • Yousif HM, Mohammed RA, Missawi HM, Elsawaf ZM, Albasri AM.
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    • Clinical Utility of Prospective Molecular Characterization in Advanced Endometrial Cancer.
    • Soumerai TE, Donoghue MTA, Bandlamudi C, Srinivasan P, Chang MT, Zamarin D, Cadoo KA, Grisham RN, O'Cearbhaill RE, Tew WP, Konner JA, Hensley ML, Makker V, Sabbatini P, Spriggs DR, Troso-Sandoval TA, Charen AS, Friedman C, Gorsky M, Schweber SJ, Middha S, Murali R, Chiang S, Park KJ, Soslow RA, Ladanyi M, Li BT, Mueller J, Weigelt B, Zehir A, Berger MF, Abu-Rustum NR, Aghajanian C, DeLair DF, Solit DB, Taylor BS, Hyman DM.
    • Clin Cancer Res. 2018 Dec 1;24(23):5939-5947. doi: 10.1158/1078-0432.CCR-18-0412. Epub 2018 Aug 1.
    • Distinct Clinical Courses of Epithelial Ovarian Cancer with Mutations in BRCA1 5' and 3' Exons.
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    • Anticancer Res. 2018 Dec;38(12):6947-6953. doi: 10.21873/anticanres.13073.
    • A portrait of germline mutation in Brazilian at-risk for hereditary breast cancer.
    • de Souza Timoteo AR, Gonçalves AÉMM, Sales LAP, Albuquerque BM, de Souza JES, de Moura PCP, de Aquino MAA, Agnez-Lima LF, Lajus TBP.
    • Breast Cancer Res Treat. 2018 Dec;172(3):637-646. doi: 10.1007/s10549-018-4938-0. Epub 2018 Aug 29.
    • High rate of occult cancer found in prophylactic mastectomy specimens despite thorough presurgical assessment with MRI and ultrasound: findings from the Hereditary Breast and Ovarian Cancer Registration 2016 in Japan.
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    • Breast Cancer Res Treat. 2018 Dec;172(3):679-687. doi: 10.1007/s10549-018-4953-1. Epub 2018 Sep 10.
    • Screening and characterization of BRCA2 c.156_157insAlu in Brazil: Results from 1380 individuals from the South and Southeast.
    • Felicio PS, Alemar B, Coelho AS, Berardinelli GN, Melendez ME, Lengert AVH, Miche Lli RD, Reis RM, Fernandes GC, Ewald IP, Bittar CM, Netto CBO, Artigalas O, Peixoto A, Pinheiro M, Teixeira MR, Vargas FR, Dos Santos ACE, Moreira MAM, Ashton-Prolla P, Palmero EI.
    • Cancer Genet. 2018 Dec;228-229:93-97. doi: 10.1016/j.cancergen.2018.09.001. Epub 2018 Oct 6.
    • Prevalence of pathogenic variants and variants of unknown significance in patients at high risk of breast cancer: A systematic review and meta-analysis of gene-panel data.
    • van Marcke C, Collard A, Vikkula M, Duhoux FP.
    • Crit Rev Oncol Hematol. 2018 Dec;132:138-144. doi: 10.1016/j.critrevonc.2018.09.009. Epub 2018 Sep 14.
    • Review
    • Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families.
    • Castéra L, Harter V, Muller E, Krieger S, Goardon N, Ricou A, Rousselin A, Paimparay G, Legros A, Bruet O, Quesnelle C, Domin F, San C, Brault B, Fouillet R, Abadie C, Béra O, Berthet P; French Exome Project Consortium, Frébourg T, Vaur D.
    • Genet Med. 2018 Dec;20(12):1677-1686. doi: 10.1038/s41436-018-0005-9. Epub 2018 Jul 10.
    • Germline pathogenic variants identified in women with ovarian tumors.
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    • Gynecol Oncol. 2018 Dec;151(3):481-488. doi: 10.1016/j.ygyno.2018.09.030. Epub 2018 Oct 12.
    • Cancer Susceptibility Genetic Testing in a High-Risk Cohort of Urban Ashkenazi Jewish Individuals.
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    • Reclassification of BRCA1 and BRCA2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort.
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    • J Med Genet. 2018 Dec;55(12):794-802. doi: 10.1136/jmedgenet-2018-105565. Epub 2018 Nov 10.
    • Germline BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance associated with breast/ovarian cancer: a report from North India.
    • Mehta A, Vasudevan S, Sharma SK, Kumar D, Panigrahi M, Suryavanshi M, Gupta G.
    • Cancer Manag Res. 2018 Nov 30;10:6505-6516. doi: 10.2147/CMAR.S186563. eCollection 2018.
    • Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.
    • Koczkowska M, Krawczynska N, Stukan M, Kuzniacka A, Brozek I, Sniadecki M, Debniak J, Wydra D, Biernat W, Kozlowski P, Limon J, Wasag B, Ratajska M.
    • Cancers (Basel). 2018 Nov 14;10(11). pii: E442. doi: 10.3390/cancers10110442.
    • A Recurrent BRCA2 Mutation Explains the Majority of Hereditary Breast and Ovarian Cancer Syndrome Cases in Puerto Rico.
    • Diaz-Zabala HJ, Ortiz AP, Garland L, Jones K, Perez CM, Mora E, Arroyo N, Oleksyk TK, Echenique M, Matta JL, Dean M, Dutil J.
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    • Differential Burden of Rare and Common Variants on Tumor Characteristics, Survival, and Mode of Detection in Breast Cancer.
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    • BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis.
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    • J Natl Cancer Inst. 2018 Nov 1;110(11):1178-1189. doi: 10.1093/jnci/djy148.

    Related:

    Full text: BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis (Medscape Oncology)

    Letter, Comment:

    RE: BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis.

    • Utility of Expedited Hereditary Cancer Testing in the Surgical Management of Patients with a New Breast Cancer Diagnosis.
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    • Ann Surg Oncol. 2018 Nov;25(12):3556-3562. doi: 10.1245/s10434-018-6581-8. Epub 2018 Aug 30.
    • BRCA Mutation Status to Personalize Management of Recurrent Ovarian Cancer: A Multicenter Study.
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    • Ann Surg Oncol. 2018 Nov;25(12):3701-3708. doi: 10.1245/s10434-018-6700-6. Epub 2018 Aug 20.

    Related:

    Commentary:

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

    • The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations.
    • Barnes-Kedar I, Bernstein-Molho R, Ginzach N, Hartmajer S, Shapira T, Magal N, Kalis ML, Peretz T, Shohat M, Basel-Salmon L, Friedman E, Bazak L, Goldberg Y.
    • Breast Cancer Res Treat. 2018 Nov;172(1):151-157. doi: 10.1007/s10549-018-4887-7. Epub 2018 Jul 16.
    • High Prevalence of Hereditary Cancer Syndromes and Outcomes in Adults with Early-Onset Pancreatic Cancer.
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    • GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.
    • Lesueur F, Mebirouk N, Jiao Y, Barjhoux L, Belotti M, Laurent M, Léone M, Houdayer C, Bressac-de Paillerets B, Vaur D, Sobol H, Noguès C, Longy M, Mortemousque I, Fert-Ferrer S, Mouret-Fourme E, Pujol P, Venat-Bouvet L, Bignon YJ, Leroux D, Coupier I, Berthet P, Mari V, Delnatte C, Gesta P, Collonge-Rame MA, Giraud S, Bonadona V, Baurand A, Faivre L, Buecher B, Lasset C, Gauthier-Villars M, Damiola F, Mazoyer S, Caputo SM, Andrieu N, Stoppa-Lyonnet D; GEMO Study Collaborators.
    • Front Oncol. 2018 Oct 31;8:490. doi: 10.3389/fonc.2018.00490. eCollection 2018.
    • BRCA1/BRCA2 Mutations Shaped by Ancient Consanguinity Practice in Southern Mediterranean Populations
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    • Two Missense Variants Detected in Breast Cancer Probands Preventing BRCA2-PALB2 Protein Interaction.
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    • Front Oncol. 2018 Oct 25;8:480. doi: 10.3389/fonc.2018.00480. eCollection 2018.
    • Identification of Incidental Germline Mutations in Patients With Advanced Solid Tumors Who Underwent Cell-Free Circulating Tumor DNA Sequencing.
    • Slavin TP, Banks KC, Chudova D, Oxnard GR, Odegaard JI, Nagy RJ, Tsang KWK, Neuhausen SL, Gray SW, Cristofanilli M, Rodriguez AA, Bardia A, Leyland-Jones B, Janicek MF, Lilly M, Sonpavde G, Lee CE, Lanman RB, Meric-Bernstam F, Kurzrock R, Weitzel JN.
    • J Clin Oncol. 2018 Oct 19:JCO1800328. doi: 10.1200/JCO.18.00328. [Epub ahead of print]
    • Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
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    • Nat Commun. 2018 Oct 4;9(1):4083. doi: 10.1038/s41467-018-06581-8.
    • BRCA1/2 mutations are not a common cause of malignant melanoma in the Polish population.
    • Dębniak T, Scott RJ, Górski B, Masojć B, Kram A, Maleszka R, Cybulski C, Paszkowska-Szczur K, Kashyap A, Murawa D, Malińska K, Kiedrowicz M, Rogoża-Janiszewska E, Rudnicka H, Deptuła J, Domagała P, Kluźniak W, Lener MR, Lubiński J.
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    • The Ethnic-Specific Spectrum of Germline Nucleotide Variants in DNA Damage Response and Repair Genes in Hereditary Breast and Ovarian Cancer Patients of Tatar Descent.
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    • Front Oncol. 2018 Oct 2;8:421. doi: 10.3389/fonc.2018.00421. eCollection 2018.
    • Surgical and molecular characterization of primary and metastatic disease in a neuroendocrine tumor arising in a tailgut cyst.
    • Erdrich J, Schaberg KB, Khodadoust MS, Zhou L, Shelton AA, Visser BC, Ford JM, Alizadeh AA, Quake SR, Kunz PL, Beausang JF.
    • Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5). pii: a003004. doi: 10.1101/mcs.a003004. Print 2018 Oct.
    • Inherited Breast Cancer in Nigerian Women.
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    • J Clin Oncol. 2018 Oct 1;36(28):2820-2825. doi: 10.1200/JCO.2018.78.3977. Epub 2018 Aug 21.

    Related:

    Research News: Inherited breast cancer in Nigerian women. (FORCE XRAYS)

    • Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma.
    • Panou V, Gadiraju M, Wolin A, Weipert CM, Skarda E, Husain AN, Patel JD, Rose B, Zhang SR, Weatherly M, Nelakuditi V, Knight Johnson A, Helgeson M, Fischer D, Desai A, Sulai N, Ritterhouse L, Røe OD, Turaga KK, Huo D, Segal J, Kadri S, Li Z, Kindler HL, Churpek JE.
    • J Clin Oncol. 2018 Oct 1;36(28):2863-2871. doi: 10.1200/JCO.2018.78.5204. Epub 2018 Aug 16.
    • Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry.
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    • J Natl Cancer Inst. 2018 Oct 1;110(10):1059-1066. doi: 10.1093/jnci/djy027.

    Related:

    Introductory article, Editorial:

    The Ancestral Pace of Variant Reclassification.

    Related:

    Full text: Prospective Study of Cancer Genetic Variants — Variation in Rate of Reclassification by Ancestry (Medscape Oncology)

    • Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms.
    • Lowery MA, Wong W, Jordan EJ, Lee JW, Kemel Y, Vijai J, Mandelker D, Zehir A, Capanu M, Salo-Mullen E, Arnold AG, Yu KH, Varghese AM, Kelsen DP, Brenner R, Kaufmann E, Ravichandran V, Mukherjee S, Berger MF, Hyman DM, Klimstra DS, Abou-Alfa GK, Tjan C, Covington C, Maynard H, Allen PJ, Askan G, Leach SD, Iacobuzio-Donahue CA, Robson ME, Offit K, Stadler ZK, O'Reilly EM.
    • J Natl Cancer Inst. 2018 Oct 1;110(10):1067-1074. doi: 10.1093/jnci/djy024.
    • Routine germline BRCA1 and BRCA2 testing in patients with ovarian carcinoma: analysis of the Scottish real-life experience.
    • Rust K, Spiliopoulou P, Tang CY, Bell C, Stirling D, Phang T, Davidson R, Mackean M, Nussey F, Glasspool RM, Reed NS, Sadozye A, Porteous M, McGoldrick T, Ferguson M, Miedzybrodzka Z, McNeish IA, Gourley C.
    • BJOG. 2018 Oct;125(11):1451-1458. doi: 10.1111/1471-0528.15171. Epub 2018 May 10.

    Related:

    Commentary:

    Population based testing of non-mucinous epithelial ovarian cancer in Scotland

    • Breast cancer in transgender patients: A systematic review. Part 1: Male to female.
    • Hartley RL, Stone JP, Temple-Oberle C.
    • Eur J Surg Oncol. 2018 Oct;44(10):1455-1462. doi: 10.1016/j.ejso.2018.06.035. Epub 2018 Jul 25.
    • Review
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    • BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls.
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    • Detection of novel germline mutations in six breast cancer predisposition genes by targeted next-generation sequencing.
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    • Rare Variants in Known Susceptibility Loci and Their Contribution to Risk of Lung Cancer.
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    • J Thorac Oncol. 2018 Oct;13(10):1483-1495. doi: 10.1016/j.jtho.2018.06.016. Epub 2018 Jul 4.
    • Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.
    • Quezada Urban R, Díaz Velásquez CE, Gitler R, Rojo Castillo MP, Sirota Toporek M, Figueroa Morales A, Moreno García O, García Esquivel L, Torres Mejía G, Dean M, Delgado Enciso I, Ochoa Díaz López H, Rodríguez León F, Jan V, Garzón Barrientos VH, Ruiz Flores P, Espino Silva PK, Haro Santa Cruz J, Martínez Gregorio H, Rojas Jiménez EA, Romero Cruz LE, Méndez Catalá CF, Álvarez Gómez RM, Fragoso Ontiveros V, Herrera LA, Romieu I, Terrazas LI, Chirino YI, Frecha C, Oliver J, Perdomo S, Vaca Paniagua F.
    • Cancers (Basel). 2018 Sep 27;10(10). pii: E361. doi: 10.3390/cancers10100361.
    • Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.
    • Hoyer J, Vasileiou G, Uebe S, Wunderle M, Kraus C, Fasching PA, Thiel CT, Hartmann A, Beckmann MW, Lux MP, Reis A.
    • BMC Cancer. 2018 Sep 26;18(1):926. doi: 10.1186/s12885-018-4821-8.
    • Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
    • Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Heather Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF.
    • JAMA Netw Open. 2018 Sep 21;1(5): e182140. doi: 10.1001/jamanetworkopen.2018.2140.

    Related:

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

    • Investigating of variations in BRCA1 gene in Iranian families with breast cancer.
    • Mehrgou A, Akouchekian M, Hemati S.
    • Med J Islam Repub Iran. 2018 Sep 17;32:87 [507-511]. doi: 10.14196/mjiri.32.87. eCollection 2018.
    • Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients.
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    • PLoS One. 2018 Sep 13;13(9):e0203495. doi: 10.1371/journal.pone.0203495. eCollection 2018.
    • Tumor Lysis Syndrome After Platinum-based Chemotherapy in Castration-resistant Prostate Cancer With a BRCA2 Mutation: A Case Report.
    • Gongora ABL, Canedo FSNA, de Melo ALA, Bezerra ROF, Asprino PF, Camargo AA, Bastos DA.
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    • Case report
    • Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
    • Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF.
    • JAMA Netw Open. 2018 Sep 7;1(5):e182140. doi: 10.1001/jamanetworkopen.2018.2140.
    • Clinicopathologic features and BRCA mutations in primary fallopian tube cancer in Japanese women.
    • Sakurada S, Watanabe Y, Tokunaga H, Takahashi F, Yamada H, Takehara K, Yaegashi N.
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    • Association of BRCA1 185 del AG with early age onset of breast cancer patients in selected cohort from Pakistani population.
    • Durr-E-Samin, Saif-Ur-Rehman M, Shahnawaz-Ul-Rehman M, Khan MS.
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    • Genetic Variations, Exposure to Persistent Organic Pollutants and Breast Cancer Risk - A Greenlandic Case-Control Study.
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    • Clinical outcomes of adolescents and young adults with advanced solid tumours participating in phase I trials.
    • Sundar R, McVeigh T, Dolling D, Petruckevitch A, Diamantis N, Ang JE, Chenard-Poiriér M, Collins D, Lim J, Ameratunga M, Khan K, Kaye SB, Banerji U, Lopez J, George AJ, de Bono JS, van der Graaf WT.
    • Eur J Cancer. 2018 Sep;101:55-61. doi: 10.1016/j.ejca.2018.06.003. Epub 2018 Jul 17.
    • Expression of DNA Damage Response Proteins and Associations with Clinicopathologic Characteristics in Chinese Familial Breast Cancer Patients with BRCA1/2 Mutations.
    • Zhu X, Tian T, Ruan M, Rao J, Yang W, Cai X, Sun M, Qin G, Zhao Z, Wu J, Shao Z, Shui R, Hu Z.
    • J Breast Cancer. 2018 Sep;21(3):297-305. doi: 10.4048/jbc.2018.21.e38. Epub 2018 Sep 12.
    • A new pathogenic mutation of the BRCA1 gene in a patient with ovarian cancer: A case report.
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    • Identification of a novel breast cancer-causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report.
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    • Germline Variants and Risk for Pancreatic Cancer: A Systematic Review and Emerging Concepts.
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    • Pancreas. 2018 Sep;47(8):924-936. doi: 10.1097/MPA.0000000000001136.
    • Heterogeneity of germline variants in high risk breast and ovarian cancer susceptibility genes in India.
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    • Precis Clin Med. 2018 Sep;1(2):75-87. doi: 10.1093/pcmedi/pby010. Epub 2018 Sep 22.
    • Lymphangioleiomyomatosis: a case report and review of diagnosis and treatment.
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    • Onco Targets Ther. 2018 Aug 31;11:5339-5347. doi: 10.2147/OTT.S161360. eCollection 2018.
    • BRCA1 and BRCA2 Mutations Other Than the Founder Alleles Among Ashkenazi Jewish in the Population of Argentina.
    • Solano AR, Liria NC, Jalil FS, Faggionato DM, Mele PG, Mampel A, Cardoso FC, Podesta EJ.
    • Front Oncol. 2018 Aug 21;8:323. doi: 10.3389/fonc.2018.00323. eCollection 2018.
    • Homologous recombination deficiency in ovarian cancer: a review of its epidemiology and management.
    • da Cunha Colombo Bonadio RR, Fogace RN, Miranda VC, Diz MDPE.
    • Clinics (Sao Paulo). 2018 Aug 20;73(suppl 1):e450s. doi: 10.6061/clinics/2018/e450s.
    • Breast cancer in the GCC countries: A focus on BRCA1/2 and non-BRCA1/2 genes.
    • Rahman S, Zayed H.
    • Gene. 2018 Aug 20;668:73-76. doi: 10.1016/j.gene.2018.05.045. Epub 2018 May 17.
    • Review
    • BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population.
    • Cardoso FC, Goncalves S, Mele PG, Liria NC, Sganga L, Diaz Perez I, Podesta EJ, Solano AR.
    • Hum Genomics. 2018 Aug 13;12(1):39. doi: 10.1186/s40246-018-0171-5.
    • A novel BRCA2 mutation in prostate cancer sensitive to combined radiotherapy and androgen deprivation therapy.
    • Liu Q, Tong D, Liu G, Yi Y, Xu J, Yang X, Wang L, Zhang J, Ye J, Zhang Y, Yuan G, Wang P, Chen R, Guan Y, Yi X, Zhang D, Jiang J.
    • Cancer Biol Ther. 2018 Aug 3;19(8):669-675. doi: 10.1080/15384047.2018.1451278. Epub 2018 Apr 19.
    • Genetic testing for hereditary prostate cancer: Current status and limitations.
    • Zhen JT, Syed J, Nguyen KA, Leapman MS, Agarwal N, Brierley K, Llor X, Hofstatter E, Shuch B.
    • Cancer. 2018 Aug 1;124(15):3105-3117. doi: 10.1002/cncr.31316. Epub 2018 Apr 18.
    • Review
    • Uptake, Results, and Outcomes of Germline Multiple-Gene Sequencing After Diagnosis of Breast Cancer.
    • Kurian AW, Ward KC, Hamilton AS, Deapen DM, Abrahamse P, Bondarenko I, Li Y, Hawley ST, Morrow M, Jagsi R, Katz SJ.
    • JAMA Oncol. 2018 Aug 1;4(8):1066-1072. doi: 10.1001/jamaoncol.2018.0644.

    Related:

    Press: Multigene Sequencing Rapidly Replacing BRCA Tests. (Medscape Oncology)

    Letter, Comment:

    Cancer Risk Estimates for Study of Multiple-Gene Testing After Diagnosis of Breast Cancer.

    Letter, Reply:

    Cancer Risk Estimates for Study of Multiple-Gene Testing After Diagnosis of Breast Cancer-Reply.

    • Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing.
    • Shimelis H, LaDuca H, Hu C, Hart SN, Na J, Thomas A, Akinhanmi M, Moore RM, Brauch H, Cox A, Eccles DM, Ewart-Toland A, Fasching PA, Fostira F, Garber J, Godwin AK, Konstantopoulou I, Nevanlinna H, Sharma P, Yannoukakos D, Yao S, Feng BJ, Tippin Davis B, Lilyquist J, Pesaran T, Goldgar DE, Polley EC, Dolinsky JS, Couch FJ.
    • J Natl Cancer Inst. 2018 Aug 1;110(8):855-862. doi: 10.1093/jnci/djy106.

    Related:

    Research news:

    New triple-negative breast cancer risk genes identified.

    Research news: Triple-negative: Genes associated with risk for aggressive breast cancer. (Science Daily)

    Research news: Triple-Negative Breast Cancer Risk Linked to Germline Variants in Several Cancer Genes. (Precision Oncology News)

    Research news: Study identifies genes associated with risk of triple-negative breast cancer. (FORCE. XRAYS.)

    • Activity of HSP90 Inhibiton in a Metastatic Lung Cancer Patient With a Germline BRCA1 Mutation.
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    • J Natl Cancer Inst. 2018 Aug 1;110(8):914-917. doi: 10.1093/jnci/djy012.
    • Smoking and FGFR2 rs2981582 variant independently modulate male breast cancer survival: A population-based study in Tuscany, Italy.
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    • Case report
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    • Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer.
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    • DNA Repair Gene Alterations and PARP Inhibitor Response in Patients With Metastatic Castration-Resistant Prostate Cancer.
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    • Evaluation of Breast Cancer Patients with Genetic Risk in a University Hospital: Before and After the Implementation of a Heredofamilial Cancer Unit.
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    • Letter

    Related:

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

    Letter, Reply:

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

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    Related:

    Editorial:

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

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

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

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    • XRAYS Follow Up: Does expanded genetic testing benefit Jewish women with breast cancer?
    • [No author given]
    • FORCE. XRAYS. 2018 Jun 7.

    Related:

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

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

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    Related:

    Original Research:

    Comparison of Breast Cancer Molecular Features and Survival by African and European Ancestry in The Cancer Genome Atlas.

    Letter, Reply:

    Reported Biologic Differences in Breast Cancer by Race Due to Disparities in Screening-Reply.

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    • Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer.
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    • Pathogenic Germline Variants in 10,389 Adult Cancers.
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    • Cell. 2018 Apr 5;173(2):355-370.e14. doi: 10.1016/j.cell.2018.03.039.
    • Systematic Analysis of Splice-Site-Creating Mutations in Cancer.
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    • Cell Rep. 2018 Apr 3;23(1):270-281.e3. doi: 10.1016/j.celrep.2018.03.052.
    • Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.
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    • Oncotarget. 2018 Apr 3;9(25):17334-17348. doi: 10.18632/oncotarget.24671. eCollection 2018 Apr 3.
    • Mutual exclusion of CDH1 and BRCA germline mutations in the pathway of hereditary breast cancer.
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    • Arch Gynecol Obstet. 2018 Apr;297(4):1067-1068. doi: 10.1007/s00404-018-4705-9. Epub 2018 Feb 3.
    • Letter
    • High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.
    • Alhuqail AJ, Alzahrani A, Almubarak H, Al-Qadheeb S, Alghofaili L, Almoghrabi N, Alhussaini H, Park BH, Colak D, Karakas B.
    • Breast Cancer Res Treat. 2018 Apr;168(3):695-702. doi: 10.1007/s10549-017-4635-4. Epub 2018 Jan 2.
    • BRCA1 and BRCA2 germline variants in breast cancer patients from the Republic of Macedonia.
    • Jakimovska M, Maleva Kostovska I, Popovska-Jankovic K, Kubelka-Sabit K, Karadjozov M, Stojanovska L, Arsovski A, Smichkoska S, Lazarova E, Jakimovska Dimitrovska M, Plaseska-Karanfilska D.
    • Breast Cancer Res Treat. 2018 Apr;168(3):745-753. doi: 10.1007/s10549-017-4642-5. Epub 2018 Jan 15.
    • Characterization of a novel germline BRCA1 splice variant, c.5332+4delA.
    • Yang C, Jairam S, Amoroso KA, Robson ME, Walsh MF, Zhang L.
    • Breast Cancer Res Treat. 2018 Apr;168(2):543-550. doi: 10.1007/s10549-017-4595-8. Epub 2017 Nov 28.
    • Circulating Tumor DNA Genomics Correlate with Resistance to Abiraterone and Enzalutamide in Prostate Cancer.
    • Annala M, Vandekerkhove G, Khalaf D, Taavitsainen S, Beja K, Warner EW, Sunderland K, Kollmannsberger C, Eigl BJ, Finch D, Oja CD, Vergidis J, Zulfiqar M, Azad AA, Nykter M, Gleave ME, Wyatt AW, Chi KN.
    • Cancer Discov. 2018 Apr;8(4):444-457. doi: 10.1158/2159-8290.CD-17-0937. Epub 2018 Jan 24.

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    Plasma DNA and Metastatic Castration-Resistant Prostate Cancer: The Odyssey to a Clinical Biomarker Test.

    • Novel BRCA1 splice-site mutation in ovarian cancer patients of Slavic origin.
    • Krivokuca A, Dragos VS, Stamatovic L, Blatnik A, Boljevic I, Stegel V, Rakobradovic J, Skerl P, Jovandic S, Krajc M, Magic MB, Novakovic S.
    • Fam Cancer. 2018 Apr;17(2):179-185. doi: 10.1007/s10689-017-0022-x.
    • Impact of Multigene Panel Testing on Surgical Decision Making in Breast Cancer Patients.
    • Pederson HJ, Gopalakrishnan D, Noss R, Yanda C, Eng C, Grobmyer SR.
    • J Am Coll Surg. 2018 Apr;226(4):560-565. doi: 10.1016/j.jamcollsurg.2017.12.037. Epub 2018 Jan 31.
    • Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.
    • Arai M, Yokoyama S, Watanabe C, Yoshida R, Kita M, Okawa M, Sakurai A, Sekine M, Yotsumoto J, Nomura H, Akama Y, Inuzuka M, Nomizu T, Enomoto T, Nakamura S.
    • J Hum Genet. 2018 Apr;63(4):447-457. doi: 10.1038/s10038-017-0355-1. Epub 2017 Nov 8.
    • Clinicopathological and Molecular Study of Triple-Negative Breast Cancer in Algerian Patients.
    • Gaceb H, Cherbal F, Bakour R, Ould-Rouis A, Mahfouf H.
    • Pathol Oncol Res. 2018 Apr;24(2):297-308. doi: 10.1007/s12253-017-0242-2. Epub 2017 May 6.
    • Rare germline mutations in African American men diagnosed with early-onset prostate cancer.
    • Beebe-Dimmer JL, Zuhlke KA, Johnson AM, Liesman D, Cooney KA.
    • Prostate. 2018 Apr;78(5):321-326. doi: 10.1002/pros.23464. Epub 2018 Jan 21.
    • Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer.
    • Isaacsson Velho P, Silberstein JL, Markowski MC, Luo J, Lotan TL, Isaacs WB, Antonarakis ES.
    • Prostate. 2018 Apr;78(5):401-407. doi: 10.1002/pros.23484. Epub 2018 Jan 25.
    • Germline BRCA mutation in male carriers-ripe for precision oncology?
    • Leão RRN, Price AJ, James Hamilton R.
    • Prostate Cancer Prostatic Dis. 2018 Apr;21(1):48-56. doi: 10.1038/s41391-017-0018-5. Epub 2017 Dec 14.
    • Review
    • Germline breast cancer susceptibility gene mutations and breast cancer outcomes.
    • Wang YA, Jian JW, Hung CF, Peng HP, Yang CF, Cheng HS, Yang AS.
    • BMC Cancer. 2018 Mar 22;18(1):315. doi: 10.1186/s12885-018-4229-5.
    • FDA approves breast cancer test kits: how useful are they?
    • [No author given]
    • FORCE. XRAYS. 2018 Mar 19.

    Related:

    FDA News Release: FDA authorizes, with special controls, direct-to-consumer test that reports three mutations in the BRCA breast cancer genes (U.S. Food & Drug Administration)

    Press: Oncology Community Sees Potential for Patient Harm in FDA OK of 23andMe BRCA Test (GenomeWeb)

    Press: FDA Authorizes 23andMe DTC Test Report for Three BRCA Mutations (GenomeWeb)

    • Medical Strategy or Marketing Strategy?
    • Resta R.
    • The DNA Exchange. 2018 Mar 18.
    • Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history.
    • Engel C, Rhiem K, Hahnen E, Loibl S, Weber KE, Seiler S, Zachariae S, Hauke J, Wappenschmidt B, Waha A, Blümcke B, Kiechle M, Meindl A, Niederacher D, Bartram CR, Speiser D, Schlegelberger B, Arnold N, Wieacker P, Leinert E, Gehrig A, Briest S, Kast K, Riess O, Emons G, Weber BHF, Engel J, Schmutzler RK; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC).
    • BMC Cancer. 2018 Mar 7;18(1):265. doi: 10.1186/s12885-018-4029-y.
    • First DTC Test for Some BRCA Mutations Authorized by FDA.
    • Nelson R.
    • Medscape. Medscape Medical News. 2018 Mar 7.
    • FDA authorizes, with special controls, direct-to-consumer test that reports three mutations in the BRCA breast cancer genes.
    • [No author given]
    • U.S. Food & Drug Administration. FDA News Release. 2018 Mar 6.

    Related:

    Blog post, News: NSGC Responds to U.S. Food and Drug Administration Approval of Direct-to-Consumer Cancer Test that Reports Three BRCA Mutations (NSGC Blog)

    News: FDA approves breast cancer test kits: how useful are they? (FORCE. XRAYS)

    • BRCA1 mutation spectrum, functions, and therapeutic strategies: The story so far.
    • Sharma B, Preet Kaur R, Raut S, Munshi A.
    • Curr Probl Cancer. 2018 Mar - Apr;42(2):189-207. doi: 10.1016/j.currproblcancer.2018.01.001. Epub 2018 Jan 8.
    • Review
    • Breast Cancer is Common in Women With Ovarian Malignant Mixed Mullerian Tumors.
    • Whynott RM, Manahan KJ, Geisler JP.
    • Am J Clin Oncol. 2018 Mar;41(3):286-288. doi: 10.1097/COC.0000000000000266.
    • Peritoneal cancer arising after total abdominal hysterectomy and bilateral salpingo-oophorectomy for cervical cancer in a patient with right breast cancer and germline mutation of BRCA1 gene: a case report and literature review.
    • Harao M, Ando J, Kamata H, Hoshi N, Igarashi S, Sekiguchi R, Sugano K.
    • Breast Cancer. 2018 Mar;25(2):243-249. doi: 10.1007/s12282-017-0813-9. Epub 2017 Nov 1.
    • Case report, Review
    • Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication.
    • Pelttari LM, Shimelis H, Toiminen H, Kvist A, Törngren T, Borg Å, Blomqvist C, Bützow R, Couch F, Aittomäki K, Nevanlinna H.
    • Clin Genet. 2018 Mar;93(3):595-602. doi: 10.1111/cge.13123. Epub 2018 Jan 12.
    • Recommendations for biomarker testing in epithelial ovarian cancer: a National Consensus Statement by the Spanish Society of Pathology and the Spanish Society of Medical Oncology.
    • Oaknin A, Guarch R, Barretina P, Hardisson D, González A, Matías-Guiu X, Pérez-Fidalgo A, Vieites B, Romero I, Palacios J.
    • Clin Transl Oncol. 2018 Mar;20(3):274-285. doi: 10.1007/s12094-017-1719-x. Epub 2017 Aug 16.
    • Short report: Follow-up of Bahamian women with a BRCA1 or BRCA2 mutation.
    • Narod SA, Butler R, Bobrowski D, Akbari MR, Curling D, Lunn J, Ho C, Panahi S, Llacuachaqui M, Donenberg T, Hurley J.
    • Mol Genet Genomic Med. 2018 Mar;6(2):301-304. doi: 10.1002/mgg3.363. Epub 2017 Dec 20.
    • Fanconi anaemia and cancer: an intricate relationship.
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    • Nat Rev Cancer. 2018 Mar;18(3):168-185. doi: 10.1038/nrc.2017.116. Epub 2018 Jan 29.
    • Review
    • Characterization of mutations in BRCA1/2 and the relationship with clinic-pathological features of breast cancer in a hereditarily high-risk sample of chinese population.
    • Fang M, Zhu L, Li H, Li X, Wu Y, Wu K, Lin J, Sheng Y, Yu Y.
    • Oncol Lett. 2018 Mar;15(3):3068-3074. doi: 10.3892/ol.2017.7717. Epub 2017 Dec 29.
    • A5 Relatively high incidence of non-founder brca1/2 mutation carriers among familial breast cancer cases in Latvia.
    • Irmejs A, Maksimenko J, Trofimovičs G, Bērziņa D, Skuja E, Purkalne G, Miklaševičs E, Gardovskis J
    • Hered Cancer Clin Pract. 2018 Feb 28;16(Suppl 1):A5. Meeting abstracts from Clinical Genetics of Cancer 2017; Szczecin, Poland. 21-22 September 2017. doi: 10.1186/s13053-018-0087-z.
    • Conference abstract
    • A11 Similar 10-year survival in breast cancer with patients common BRCA1 mutations in Poland and Lithuania.
    • Elsakov P, Ostapenko V, Luksyte A, Smailyte G.
    • Hered Cancer Clin Pract. 2018 Feb 28;16(Suppl 1):A11. Meeting abstracts from Clinical Genetics of Cancer 2017; Szczecin, Poland. 21-22 September 2017. doi: 10.1186/s13053-018-0087-z.
    • Conference abstract
    • A19 Frequency of BRCA1 and BRCA2 founder mutations among ovarian cancer patients from Podkarpackie Voivodeship.
    • Kluz T, Jasiewicz A, Gronwald J.
    • Hered Cancer Clin Pract. 2018 Feb 28;16(Suppl 1):A19. Meeting abstracts from Clinical Genetics of Cancer 2017; Szczecin, Poland. 21-22 September 2017. doi: 10.1186/s13053-018-0087-z.
    • Conference abstract
    • Frequency of BRCA1 and BRCA2 causative founder variants in ovarian cancer patients in South-East Poland.
    • Kluz T, Jasiewicz A, Marczyk E, Jach R, Jakubowska A, Lubiński J, Narod SA, Gronwald J.
    • Hered Cancer Clin Pract. 2018 Feb 27;16:6. doi: 10.1186/s13053-018-0089-x. eCollection 2018.
    • Difference in Risk of Breast and Ovarian Cancer According to Putative Functional Domain Regions in Korean BRCA1/2 Mutation Carriers.
    • Park JS, Lee ST, Han JW, Kim TI, Nam EJ, Park HS.
    • Clin Breast Cancer. 2018 Feb 20. pii: S1526-8209(17)30785-1. doi: 10.1016/j.clbc.2018.02.007. [Epub ahead of print]
    • Survival and mutation status in breast cancer patients under age 40.
    • [No author given]
    • FORCE. XRAYS. 2018 Feb 15.

    Related:

    Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.

    Commentary:

    Breast cancer in young women: do BRCA1 or BRCA2 mutations matter?

    • Comparison of Practice Guidelines, BRCAPRO, and Genetic Counselor Estimates to Identify Germline BRCA1 and BRCA2 Mutations in Pancreatic Cancer.
    • Grant RC, Holter S, Borgida A, Dhani NC, Hedley DW, Knox JJ, Akbari MR, Zogopoulos G, Gallinger S.
    • J Genet Couns. 2018 Feb 13. doi: 10.1007/s10897-018-0212-1. [Epub ahead of print]
    • Germline BRCA1/BRCA2 mutations among high risk breast cancer patients in Jordan.
    • Abdel-Razeq H, Al-Omari A, Zahran F, Arun B.
    • BMC Cancer. 2018 Feb 6;18(1):152. doi: 10.1186/s12885-018-4079-1.
    • The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.
    • Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, Lu C, Nalpathamkalam T, Sung WWL, Wang Z, Patel RV, Pellecchia G, Wei J, Strug LJ, Bell S, Kellam B, Mahtani MM, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego MJ, Scherer SW.
    • CMAJ. 2018 Feb 5;190(5):E126-E136. doi: 10.1503/cmaj.171151.
    • Role of BRCA Mutations in the Modulation of Response to Platinum Therapy.
    • Mylavarapu S, Das A, Roy M.
    • Front Oncol. 2018 Feb 5;8:16. doi: 10.3389/fonc.2018.00016. eCollection 2018.
    • Mutual exclusion of CDH1 and BRCA germline mutations in the pathway of hereditary breast cancer.
    • Corso G, Bonanni B, Veronesi P, Galimberti V.
    • Arch Gynecol Obstet. 2018 Feb 3. doi: 10.1007/s00404-018-4705-9. [Epub ahead of print]
    • Letter
    • Breast and ovarian cancer penetrance of BRCA1/2 mutations among Hong Kong women.
    • Zhang L, Shin VY, Chai X, Zhang A, Chan TL, Ma ES, Rebbeck TR, Chen J, Kwong A.
    • Oncotarget. 2018 Feb 2;9(38):25025-25033. doi: 10.18632/oncotarget.24382. eCollection 2018 May 18.
    • BRCA mutations in women with inflammatory breast cancer.
    • Gutierrez Barrera AM, Fouad TM, Song J, Webster R, Elsayegh N, Wood AL, Demir A, Litton JK, Ueno NT, Arun BK.
    • Cancer. 2018 Feb 1;124(3):466-474. doi: 10.1002/cncr.31069. Epub 2017 Oct 17.
    • BRCAsearch: written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer.
    • Nilsson MP, Törngren T, Henriksson K, Kristoffersson U, Kvist A, Silfverberg B, Borg Å, Loman N.
    • Breast Cancer Res Treat. 2018 Feb;168(1):117-126. doi: 10.1007/s10549-017-4584-y. Epub 2017 Nov 21.
    • The yield of targeted genotyping for the recurring mutations in BRCA1/2 in Israel.
    • Bernstein-Molho R, Laitman Y, Schayek H, Reish O, Lotan S, Haim S, Zidan J, Friedman E.
    • Breast Cancer Res Treat. 2018 Feb;167(3):697-702. doi: 10.1007/s10549-017-4551-7. Epub 2017 Oct 30.
    • BRCA1 deficiency is a recurrent event in early-onset triple-negative breast cancer: a comprehensive analysis of germline mutations and somatic promoter methylation.
    • Brianese RC, Nakamura KDM, Almeida FGDSR, Ramalho RF, Barros BDF, Ferreira ENE, Formiga MNDC, de Andrade VP, de Lima VCC, Carraro DM.
    • Breast Cancer Res Treat. 2018 Feb;167(3):803-814. doi: 10.1007/s10549-017-4552-6. Epub 2017 Nov 7.
    • Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk.
    • Caswell-Jin JL, Gupta T, Hall E, Petrovchich IM, Mills MA, Kingham KE, Koff R, Chun NM, Levonian P, Lebensohn AP, Ford JM, Kurian AW.
    • Genet Med. 2018 Feb;20(2):234-239. doi: 10.1038/gim.2017.96. Epub 2017 Jul 27.
    • Clinical characteristics and outcomes of patients with BRCA1 or RAD51C methylated versus mutated ovarian carcinoma.
    • Bernards SS, Pennington KP, Harrell MI, Agnew KJ, Garcia RL, Norquist BM, Swisher EM.
    • Gynecol Oncol. 2018 Feb;148(2):281-285. doi: 10.1016/j.ygyno.2017.12.004. Epub 2017 Dec 9.
    • Unclassified Variants of BRCA1 and BRCA2 in Korean Patients With Ovarian Cancer.
    • Choi MC, Jang JH, Jung SG, Park H, Joo WD, Song SH, Lee C, Lee JH.
    • Int J Gynecol Cancer. 2018 Feb;28(2):308-315. doi: 10.1097/IGC.0000000000001161.
    • Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia.
    • Wen WX, Allen J, Lai KN, Mariapun S, Hasan SN, Ng PS, Lee DS, Lee SY, Yoon SY, Lim J, Lau SY, Decker B, Pooley K, Dorling L, Luccarini C, Baynes C, Conroy DM, Harrington P, Simard J, Yip CH, Mohd Taib NA, Ho WK, Antoniou AC, Dunning AM, Easton DF, Teo SH.
    • J Med Genet. 2018 Feb;55(2):97-103. doi: 10.1136/jmedgenet-2017-104947. Epub 2017 Oct 9.
    • Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.
    • Copson ER, Maishman TC, Tapper WJ, Cutress RI, Greville-Heygate S, Altman DG, Eccles B, Gerty S, Durcan LT, Jones L, Evans DG, Thompson AM, Pharoah P, Easton DF, Dunning AM, Hanby A, Lakhani S, Eeles R, Gilbert FJ, Hamed H, Hodgson S, Simmonds P, Stanton L, Eccles DM.
    • Lancet Oncol. 2018 Feb;19(2):169-180. doi: 10.1016/S1470-2045(17)30891-4. Epub 2018 Jan 11.

    Related:

    Commentary:

    Breast cancer in young women: do BRCA1 or BRCA2 mutations matter?

    Research news:

    Young women with BRCA mutation can safely postpone radical surgery.

    Press: Survival After Breast Cancer 'Unaffected by BRCA Status' (Medscape)

    Research news: Survival and mutation status in breast cancer patients under age 40. (FORCE: XRAYS)

    • A comprehensive analysis of BRCA2 gene: focus on mechanistic aspects of its functions, spectrum of deleterious mutations, and therapeutic strategies targeting BRCA2-deficient tumors.
    • Shailani A, Kaur RP, Munshi A.
    • Med Oncol. 2018 Jan 31;35(3):18. doi: 10.1007/s12032-018-1085-8.
    • Review
    • Rapid detection of BRCA1/2 recurrent mutations in Chinese breast and ovarian cancer patients with multiplex SNaPshot genotyping panels.
    • Kwong A, Ho JCW, Shin VY, Kurian AW, Tai E, Esserman LJ, Weitzel JN, Lin PH, Field M, Domchek SM, Lo J, Ngan HYS, Ma ESK, Chan TL, Ford JM.
    • Oncotarget. 2017 Dec 20;9(8):7832-7843. doi: 10.18632/oncotarget.23471. eCollection 2018 Jan 30.
    • Gene aberration profile of tumors of adolescent and young adult females.
    • Kanke Y, Shimomura A, Saito M, Honda T, Shiraishi K, Shimada Y, Watanabe R, Yoshida H, Yoshida M, Shimizu C, Takahashi K, Totsuka H, Ogiwara H, Hirose S, Kono K, Tamura K, Okamoto A, Kinoshita T, Kato T, Kohno T.
    • Oncotarget. 2017 Dec 29;9(5):6228-6237. doi: 10.18632/oncotarget.23765. eCollection 2018 Jan 19.
    • Double Heterozygosity for BRCA1 Pathogenic Variant and BRCA2 Polymorphic Stop Codon K3326X: A Case Report in a Southern Italian Family.
    • Palmirotta R, Lovero D, Stucci LS, Silvestris E, Quaresmini D, Cardascia A, Silvestris F.
    • Int J Mol Sci. 2018 Jan 18;19(1). pii: E285. doi: 10.3390/ijms19010285.
    • Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.
    • Lata S, Marasa M, Li Y, Fasel DA, Groopman E, Jobanputra V, Rasouly H, Mitrotti A, Westland R, Verbitsky M, Nestor J, Slater LM, D'Agati V, Zaniew M, Materna-Kiryluk A, Lugani F, Caridi G, Rampoldi L, Mattoo A, Newton CA, Rao MK, Radhakrishnan J, Ahn W, Canetta PA, Bomback AS, Appel GB, Antignac C, Markowitz GS, Garcia CK, Kiryluk K, Sanna-Cherchi S, Gharavi AG.
    • Ann Intern Med. 2018 Jan 16;168(2):100-109. doi: 10.7326/M17-1319. Epub 2017 Dec 5.
    • Location of mutation in BRCA2 gene and survival in patients with ovarian cancer.
    • Labidi-Galy SI, Olivier T, Rodrigues M, Ferraioli D, Bodmer A, Petignat P, Rak B, Chopin N, Tredan O, Heudel PE, Stuckelberger SJ, Meeus P, Meraldi P, Viassolo V, Ayme A, Chappuis PO, Stern MH, Houdayer C, Stoppa-Lyonnet D, Buisson A, Golmard L, Bonadona V, Ray-Coquard I.
    • Clin Cancer Res. 2018 Jan 15;24(2):326-333. doi: 10.1158/1078-0432.CCR-17-2136. Epub 2017 Oct 30.
    • BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway.
    • Heramb C, Wangensteen T, Grindedal EM, Ariansen SL, Lothe S, Heimdal KR, Mæhle L.
    • Hered Cancer Clin Pract. 2018 Jan 10;16:3. doi: 10.1186/s13053-017-0085-6. eCollection 2018.
    • Prevalent somatic BRCA1 mutations shape clinically relevant genomic patterns of nasopharyngeal carcinoma in Southeast Europe.
    • Fountzilas G, Psyrri A, Giannoulatou E, Tikas I, Manousou K, Rontogianni D, Ciuleanu E, Ciuleanu T, Resiga L, Zaramboukas T, Papadopoulou K, Bobos M, Chrisafi S, Tsolaki E, Markou K, Giotakis E, Koutras A, Psoma E, Kalogera-Fountzila A, Skondra M, Bamia C, Pectasides D, Kotoula V.
    • Int J Cancer. 2018 Jan 1;142(1):66-80. doi: 10.1002/ijc.31023. Epub 2017 Sep 30.
    • Characterization of basal-like subtype in a Danish consecutive primary breast cancer cohort.
    • Kinalis S, Nielsen FC, Talman ML, Ejlertsen B, Rossing M.
    • Acta Oncol. 2018 Jan;57(1):51-57. doi: 10.1080/0284186X.2017.1398837. Epub 2017 Nov 22.
    • A Danish national effort of BRCA1/2 variant classification.
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    • Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.
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    • Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.
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    • JAMA Oncol. 2017 Dec 1;3(12):1647-1653. doi: 10.1001/jamaoncol.2017.1996.

    Related:

    Audio Interview: Breast Cancer Due to Non–BRCA1 and Non–BRCA2 Mutations in Ashkenazi Jewish Women. (The JAMA Network)

    Letter:

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

    Letter, Reply:

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

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

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

    • Identification of twenty-nine novel germline unclassified variants of BRCA1 and BRCA2 genes in 1400 Italian individuals.
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    • Breast. 2017 Dec;36:74-78. doi: 10.1016/j.breast.2017.09.007. Epub 2017 Oct 8.
    • Clinical testing with a panel of 25 genes associated with increased cancer risk results in a significant increase in clinically significant findings across a broad range of cancer histories.
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    • Review
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    • Is there a difference in testosterone levels and its regulators in men carrying BRCA mutations?
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    • Detection of BRCA1/2 mutations in circulating tumor DNA from patients with ovarian cancer.
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    • BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?
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    • The BRCA2 variant c.68-7 T>A is associated with breast cancer.
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    • Hered Cancer Clin Pract. 2017 Nov 13;15:20. doi: 10.1186/s13053-017-0080-y. eCollection 2017.

    Related:

    Retraction of Publication:

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

    • Current and future role of genetic screening in gynecologic malignancies.
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    • Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial.
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    • JAMA Oncol. 2017 Oct 1;3(10):1378-1385. doi: 10.1001/jamaoncol.2017.1007.

    Related:

    Editorial:

    Use of Neoadjuvant Platinum-The Ongoing Conundrum.

    • CHEK2 gene mutations in breast cancer patients with BRCA1/2 positive or negative status.
    • Lobanova O, Rossokha Z, Vereshchako R, Cheshuk V, Popova O, Salomakhina H.
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    • Conference abstract
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    • Ann Oncol. 2017 Oct;28 Suppl 6:vi28. doi: 10.1093/annonc/mdx424.011.
    • BRCA1/BRCA2 mutations in a Mediterranean population (Apulia Region) with breast or ovarian cancer: a single center experience.
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    • Ann Oncol. 2017 Oct;28 Suppl 6:vi32. doi: 10.1093/annonc/mdx424.025.
    • Pathogenetic mutations in BRCA related triple negative breast cancer.
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    • Ann Oncol. 2017 Oct;28 Suppl 6:vi71. doi: 10.1093/annonc/mdx429.005.
    • Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia.
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    • Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.
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    • Cancer Res Treat. 2017 Oct;49(4):1012-1021. doi: 10.4143/crt.2016.433. Epub 2017 Jan 17.
    • Prevalence of two BRCA1 mutations, 5382insC and 300T > G, in ovarian cancer patients from Ukraine.
    • Gorodetska I, Serga S, Lahuta T, Ostapchenko L, Demydov S, Khranovska N, Skachkova O, Inomistova M, Kolesnik O, Svintsitsky V, Tsip N, Peresunko A, Kmit' N, Manzhura O, Rossokha Z, Popova O, Salomakhina H, Kyriachenko S, Kozeretska I.
    • Fam Cancer. 2017 Oct;16(4):471-476. doi: 10.1007/s10689-017-9978-9.
    • Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.
    • Gabaldó Barrios X, Sarabia Meseguer MD, Marín Vera M, Sánchez Bermúdez AI, Macías Cerrolaza JA, Sánchez Henarejos P, Zafra Poves M, García Hernández MR, Cuevas Tortosa E, Aliaga Baño Á, Castillo Guardiola V, Martínez Hernández P, Tovar Zapata I, Martínez Barba E, Ayala de la Peña F, Alonso Romero JL, Noguera Velasco JA, Ruiz Espejo F.
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    • Inherited DNA repair gene mutations detected by tumor next generation sequencing in urinary tract cancers.
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    • Fam Cancer. 2017 Oct;16(4):545-550. doi: 10.1007/s10689-017-9980-2.
    • Impact of germline and somatic BRCA1/2 mutations: Tumor spectrum and detection platforms.
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    • Gene Ther. 2017 Oct;24(10):601-609. doi: 10.1038/gt.2017.73. Epub 2017 Aug 3.
    • Review
    • The First Nationwide Multicenter Prevalence Study of Germline BRCA1 and BRCA2 Mutations in Chinese Ovarian Cancer Patients.
    • Wu X, Wu L, Kong B, Liu J, Yin R, Wen H, Li N, Bu H, Feng Y, Li Q, Lu X, Wei J, Zhu X, Mills J, Ellison G, Gutjahr T, Liu Y.
    • Int J Gynecol Cancer. 2017 Oct;27(8):1650-1657. doi: 10.1097/IGC.0000000000001065.
    • Genetic Versus Epigenetic BRCA1 Silencing Pathways: Clinical Effects in Primary Ovarian Cancer Patients: A Study of the Tumor Bank Ovarian Cancer Consortium.
    • Sun T, Ruscito I, Dimitrova D, Chekerov R, Kulbe H, Baron U, Blanchard V, Panici PB, Darb-Esfahani S, Sehouli J, Olek S, Braicu EI.
    • Int J Gynecol Cancer. 2017 Oct;27(8):1658-1665. doi: 10.1097/IGC.0000000000001071.
    • Analysis of BRCA1/2 mutation spectrum and prevalence in unselected Chinese breast cancer patients by next-generation sequencing.
    • Li G, Guo X, Tang L, Chen M, Luo X, Peng L, Xu X, Wang S, Xiao Z, Yi W, Dai L, Wang J.
    • J Cancer Res Clin Oncol. 2017 Oct;143(10):2011-2024. doi: 10.1007/s00432-017-2465-8. Epub 2017 Jun 29.
    • The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.
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    • PLoS One. 2017 Sep 29;12(9):e0185615. doi: 10.1371/journal.pone.0185615. eCollection 2017.
    • BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile.
    • Alvarez C, Tapia T, Perez-Moreno E, Gajardo-Meneses P, Ruiz C, Rios M, Missarelli C, Silva M, Cruz A, Matamala L, Carvajal-Carmona L, Camus M, Carvallo P.
    • Oncotarget. 2017 Jun 29;8(43):74233-74243. doi: 10.18632/oncotarget.18815. eCollection 2017 Sep 26.
    • Targeted exome sequencing of Korean triple-negative breast cancer reveals homozygous deletions associated with poor prognosis of adjuvant chemotherapy-treated patients.
    • Jeong HM, Kim RN, Kwon MJ, Oh E, Han J, Lee SK, Choi JS, Park S, Nam SJ, Gong GY, Nam JW, Choi DH, Lee H, Nam BH, Choi YL, Shin YK.
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    • Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.
    • Mandelker D, Zhang L, Kemel Y, Stadler ZK, Joseph V, Zehir A, Pradhan N, Arnold A, Walsh MF, Li Y, Balakrishnan AR, Syed A, Prasad M, Nafa K, Carlo MI, Cadoo KA, Sheehan M, Fleischut MH, Salo-Mullen E, Trottier M, Lipkin SM, Lincoln A, Mukherjee S, Ravichandran V, Cambria R, Galle J, Abida W, Arcila ME, Benayed R, Shah R, Yu K, Bajorin DF, Coleman JA, Leach SD, Lowery MA, Garcia-Aguilar J, Kantoff PW, Sawyers CL, Dickler MN, Saltz L, Motzer RJ, O'Reilly EM, Scher HI, Baselga J, Klimstra DS, Solit DB, Hyman DM, Berger MF, Ladanyi M, Robson ME, Offit K.
    • JAMA. 2017 Sep 5;318(9):825-835. doi: 10.1001/jama.2017.11137.

    Related:

    Editorial:

    The Potential and Challenges of Expanded Germline Testing in Clinical Oncology.

    Press: Study Shows More Cancer Mutations Detected by Universal Sequencing. (Clinical Omics)

    Press: Expanding Germline Analyses to Prevent and Treat Cancers. (Medscape)

    • Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: impact on healthcare and clinical practice.
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    • Oncotarget. 2016 Jul 24;8(36):60487-60495. doi: 10.18632/oncotarget.10814. eCollection 2017 Sep 1.
    • The Effect of Reproductive Factors on Breast Cancer Presentation in Women Who Are BRCA Mutation Carrier.
    • Kim JY, Moon HG, Kang YJ, Han W, Noh WC, Jung Y, Moon BI, Kang E, Park SS, Lee MH, Park BY, Lee JW, Noh DY.
    • J Breast Cancer. 2017 Sep;20(3):279-285. doi: 10.4048/jbc.2017.20.3.279. Epub 2017 Sep 22.
    • A Novel Germline Mutation in BRCA1 Causes Exon 20 Skipping in a Korean Family with a History of Breast Cancer.
    • Yoon KA, Kong SY, Lee EJ, Cho JN, Chang S, Lee ES.
    • J Breast Cancer. 2017 Sep;20(3):310-313. doi: 10.4048/jbc.2017.20.3.310. Epub 2017 Sep 22.
    • Young Israeli women with epithelial ovarian cancer: prevalence of BRCA mutations and clinical correlates.
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    • J Gynecol Oncol. 2017 Sep;28(5):e61. doi: 10.3802/jgo.2017.28.e61. Epub 2017 Jun 5.
    • A comparative study of germline BRCA1 and BRCA2 mutation screening methods in use in 20 European clinical diagnostic laboratories.
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    • Inherited predisposition to breast and ovarian cancer in non-Jewish populations in Israel.
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    • Breast Cancer Res Treat. 2017 Aug 21. doi: 10.1007/s10549-017-4474-3. [Epub ahead of print]
    • Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer.
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    • BMC Med Genet. 2017 Aug 16;18(1):85. doi: 10.1186/s12881-017-0448-x.
    • Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.
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    Related:

    Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.

    Letter, Reply:

    Reply to M.S. Daniels et al.

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    Related:

    Press: New Study Highlights the Benefits of BRCA Testing for All People of Ashkenazi Jewish Descent. (Newswise, Montefiore Health System)

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    Related:

    Letter, Comments:

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

    Letter, Reply:

    Reply to M.S. Daniels et al.

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    • Characterization of BRCA1/2 mutations in patients with family history of breast cancer in Armenia.
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    • Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.
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    • Fam Cancer. 2017 Jan;16(1):1-16. doi: 10.1007/s10689-016-9916-2.
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    • Pathologic findings at risk-reducing salpingo-oophorectomy (RRSO) in germline BRCA mutation carriers with breast cancer: significance of bilateral RRSO at the optimal age in germline BRCA mutation carriers.
    • Lee YJ, Lee SW, Kim KR, Jung KH, Lee JW, Kim YM.
    • J Gynecol Oncol. 2017 Jan;28(1):e3. doi: 10.3802/jgo.2017.28.e3. Epub 2016 Aug 8.
    • Five Years of Multidisciplinary Care in Hereditary Cancer: Our Experience in a Spanish University Hospital.
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    • Oncology. [2017 Jan;]92(2):68-74. doi: 10.1159/000452280. Epub 2016 Nov 18.
    • Multiple primary cancers in BRCA 1/2 carriers - A review of literature and our observations.
    • Markowska A, Lubin J, Markowska J, Kasprzak B, Chajewska-Czekańska M, Madry R, Stawicka M.
    • Eur J Gynaecol Oncol. 2017;38(3):361-363.
    • Review
    • The Potential Contribution of BRCA Mutations to Early Onset and Familial Breast Cancer in Uzbekistan.
    • Abdikhakimov A, Tukhtaboeva M, Adilov B, Turdikulova S.
    • Cent Asian J Glob Health. 2016 Dec 21;5(1):228. doi: 10.5195/cajgh.2016.228. eCollection 2016.
    • Prevalence and clinical significance of BRCA1/2 germline and somatic mutations in Taiwanese patients with ovarian cancer.
    • Chao A, Chang TC, Lapke N, Jung SM, Chi P, Chen CH, Yang LY, Lin CT, Huang HJ, Chou HH, Liou JD, Chen SJ, Wang TH, Lai CH.
    • Oncotarget. 2016 Dec 20;7(51):85529-85541. doi: 10.18632/oncotarget.13456.
    • Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
    • He KY, Zhao Y, McPherson EW, Li Q, Xia F, Weng C, Wang K, He MM.
    • PLoS One. 2016 Dec 8;11(12):e0167847. doi: 10.1371/journal.pone.0167847. eCollection 2016.
    • Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.
    • Berardinelli GN, Grasel RS, Sabato CS, Viana DV, Mauad EC, Scapulatempo-Neto C, Arun B, Reis RM, Palmero EI.
    • Oncotarget. 2016 Dec 6;7(49):80465-80481. doi: 10.18632/oncotarget.12610.
    • Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil.
    • Maistro S, Teixeira N, Encinas G, Katayama ML, Niewiadonski VD, Cabral LG, Ribeiro RM, Gaburo Junior N, de Gouvêa AC, Carraro DM, Sabino EC, Diz MD, Chammas R, de Bock GH, Folgueira MA.
    • BMC Cancer. 2016 Dec 3;16(1):934.
    • Comparative analysis of BRCA1 and BRCA2 variants of uncertain significance in patients with breast cancer: a multifactorial probability-based model versus ACMG standards and guidelines for interpreting sequence variants.
    • Park KS, Cho EY, Nam SJ, Ki CS, Kim JW.
    • Genet Med. 2016 Dec;18(12):1250-1257. doi: 10.1038/gim.2016.39. Epub 2016 Apr 28.
    • Population Frequency of Germline BRCA1/2 Mutations.
    • Maxwell KN, Domchek SM, Nathanson KL, Robson ME.
    • J Clin Oncol. 2016 Dec;34(34):4183-4185. Epub 2016 Oct 31.
    • Experience of Social Media Support Group for BRCA Carriers.
    • Stefansdottir V.
    • J Genet Couns. 2016 Dec;25(6):1342-1344. Epub 2016 Sep 13.
    • Letter
    • Germline mutations in Japanese familial pancreatic cancer patients.
    • Takai E, Yachida S, Shimizu K, Furuse J, Kubo E, Ohmoto A, Suzuki M, Hruban RH, Okusaka T, Morizane C, Furukawa T.
    • Oncotarget. 2016 Nov 8;7(45):74227-74235. doi: 10.18632/oncotarget.12490.
    • Earlier Age of Breast Cancer Onset in Israeli BRCA Carriers-Is it a Real Phenomenon?
    • Agranat S, Baris H, Kedar I, Shochat M, Rizel S, Perry S, Margel D, Sulkes A, Yerushalmi R.
    • Breast J. 2016 Nov;22(6):662-666. doi: 10.1111/tbj.12653. Epub 2016 Aug 17.
    • [A Case of Male Hereditary Breast Cancer Involving a Sentinel Lymph Node Biopsy].
    • Tokunou K, Yamamoto T, Yamamoto H, Kamei R, Kitamura Y, Ando S.
    • Gan To Kagaku Ryoho. 2016 Nov;43(12):2026-2028.
    • Case report [Article in Japanese]
    • Triple negative breast cancer in North of Morocco: clinicopathologic and prognostic features.
    • Derkaoui T, Bakkach J, Mansouri M, Loudiyi A, Fihri M, Alaoui FZ, Barakat A, El Yemlahi B, Bihri H, Nourouti NG, Mechita MB.
    • BMC Womens Health. 2016 Oct 22;16(1):68.
    • Early onset breast cancer in Ashkenazi women carriers of founder BRCA1/2 mutations: beyond 10 years of follow-up.
    • Dagan E, Gershoni-Baruch R, Kurolap A, Fried G.
    • Eur J Cancer Care (Engl). 2016 Oct 10. doi: 10.1111/ecc.12594. [Epub ahead of print]
    • Genomic Disparities in Breast Cancer Among Latinas.
    • Lynce F, Graves KD, Jandorf L, Ricker C, Castro E, Moreno L, Augusto B, Fejerman L, Vadaparampil ST.
    • Cancer Control. 2016 Oct;23(4):359-372.
    • Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing.
    • Ng PS, Wen WX, Fadlullah MZ, Yoon SY, Lee SY, Thong MK, Yip CH, Mohd Taib NA, Teo SH.
    • Clin Genet. 2016 Oct;90(4):315-23. doi: 10.1111/cge.12735. Epub 2016 Feb 3.
    • Identification of a founder BRCA1 mutation in the Moroccan population.
    • Quiles F, Teulé À, Martinussen Tandstad N, Feliubadaló L, Tornero E, Del Valle J, Menéndez M, Salinas M, Wethe Rognlien V, Velasco A, Izquierdo A, Capellá G, Brunet J, Lázaro C.
    • Clin Genet. 2016 Oct;90(4):361-5. doi: 10.1111/cge.12747. Epub 2016 Mar 4.
    • Association between basal-like phenotype and BRCA1/2 germline mutations in Korean breast cancer patients.
    • Jung J, Kang E, Gwak JM, Seo AN, Park SY, Lee AS, Baek H, Chae S, Kim EK, Kim SW.
    • Curr Oncol. 2016 Oct;23(5):298-303. Epub 2016 Oct 25.
    • BRCA2: a grown-up cancer susceptibility gene.
    • Foulkes WD, Sugano K.
    • Endocr Relat Cancer. 2016 Oct;23(10):E1-E3.

    Related:

    Review:

    BRCA2 functions: from DNA repair to replication fork stabilization.

    Review:

    Defects in homologous recombination repair behind the human diseases: FA and HBOC.

    Review:

    Synthetic lethality: the road to novel therapies for breast cancer.

    Review:

    Pancreatic ductal adenocarcinoma in BRCA2 mutation carriers.

    Review:

    Modifiers of breast and ovarian cancer risks for BRCA1 and BRCA2 mutation carriers.

    • Defects in homologous recombination repair behind the human diseases: FA and HBOC.
    • Katsuki Y, Takata M.
    • Endocr Relat Cancer. 2016 Oct;23(10):T19-T37. Epub 2016 Aug 22.

    Related:

    Introductory article, Editorial:

    BRCA2: a grown-up cancer susceptibility gene.

    • BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population.
    • Nielsen HR, Nilbert M, Petersen J, Ladelund S, Thomassen M, Pedersen IS, Hansen TV, Skytte AB, Borg Å, Therkildsen C.
    • Fam Cancer. 2016 Oct;15(4):507-12. doi: 10.1007/s10689-016-9875-7.
    • Incidence and Characteristics of Unsuspected Neoplasia Discovered in High-Risk Women Undergoing Risk Reductive Bilateral Salpingooophorectomy.
    • Poon C, Hyde S, Grant P, Newman M, Ireland Jenkin K.
    • Int J Gynecol Cancer. 2016 Oct;26(8):1415-20. doi: 10.1097/IGC.0000000000000791.
    • Is it time to split strategies to treat homologous recombinant deficiency in pancreas cancer?
    • Teo MY, O'Reilly EM.
    • J Gastrointest Oncol. 2016 Oct;7(5):738-749.
    • New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study.
    • Plaskocinska I, Shipman H, Drummond J, Thompson E, Buchanan V, Newcombe B, Hodgkin C, Barter E, Ridley P, Ng R, Miller S, Dann A, Licence V, Webb H, Tan LT, Daly M, Ayers S, Rufford B, Earl H, Parkinson C, Duncan T, Jimenez-Linan M, Sagoo GS, Abbs S, Hulbert-Williams N, Pharoah P, Crawford R, Brenton JD, Tischkowitz M.
    • J Med Genet. 2016 Oct;53(10):655-61. doi: 10.1136/jmedgenet-2016-103902. Epub 2016 May 12.
    • Oestrogen receptor status, treatment and breast cancer prognosis in Icelandic BRCA2 mutation carriers.
    • Jonasson JG, Stefansson OA, Johannsson OT, Sigurdsson H, Agnarsson BA, Olafsdottir GH, Alexiusdottir KK, Stefansdottir H, Munoz Mitev R, Olafsdottir K, Olafsdottir K, Arason A, Stefansdottir V, Olafsdottir EJ, Barkardottir RB, Eyfjord JE, Narod SA, Tryggvadóttir L.
    • Br J Cancer. 2016 Sep 27;115(7):776-783. doi: 10.1038/bjc.2016.249. Epub 2016 Aug 18.
    • Identification of novel BRCA founder mutations in Middle Eastern breast cancer patients using capture and Sanger sequencing analysis.
    • Bu R, Siraj AK, Al-Obaisi KA, Beg S, Al Hazmi M, Ajarim D, Tulbah A, Al-Dayel F, Al-Kuraya KS.
    • Int J Cancer. 2016 Sep 1;139(5):1091-7. doi: 10.1002/ijc.30143. Epub 2016 May 3.
    • Dissimilarity between sporadic, non-BRCA1/2 families and hereditary breast cancer, linked to BRCA genes, in the Tunisian population.
    • Riahi A, Gourabi ME, Chabouni-Bouhamed H.
    • Breast Cancer. 2016 Sep;23(5):807-12. doi: 10.1007/s12282-015-0648-1. Epub 2015 Oct 17.
    • Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.
    • Pinto P, Paulo P, Santos C, Rocha P, Pinto C, Veiga I, Pinheiro M, Peixoto A, Teixeira MR.
    • Breast Cancer Res Treat. 2016 Sep;159(2):245-56. doi: 10.1007/s10549-016-3948-z. Epub 2016 Aug 23.
    • Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations.
    • Alemar B, Herzog J, Brinckmann Oliveira Netto C, Artigalás O, Schwartz IV, Matzenbacher Bittar C, Ashton-Prolla P, Weitzel JN.
    • Cancer Genet. 2016 Sep;209(9):417-422. doi: 10.1016/j.cancergen.2016.06.008. Epub 2016 Jun 20.
    • 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

    Related:

    Letter, Reply

    Response.

    • Ovarian cancer.
    • Matulonis UA, Sood AK, Fallowfield L, Howitt BE, Sehouli J, Karlan BY.
    • Nat Rev Dis Primers. 2016 Aug 25;2:16061. doi: 10.1038/nrdp.2016.61.
    • Review
    • High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients.
    • Rashid MU, Muhammad N, Bajwa S, Faisal S, Tahseen M, Bermejo JL, Amin A, Loya A, Hamann U.
    • BMC Cancer. 2016 Aug 23;16(1):673. doi: 10.1186/s12885-016-2698-y.
    • Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas.
    • Pinto P, Peixoto A, Santos C, Rocha P, Pinto C, Pinheiro M, Leça L, Martins AT, Ferreira V, Bartosch C, Teixeira MR.
    • PLoS One. 2016 Aug 17;11(8):e0161438. doi: 10.1371/journal.pone.0161438.
    • Multigene Panel Tests Yield Clues to Breast and Ovarian Cancer Risk.
    • Greg Kennelty.
    • Oncology Nursing News. 2016 Aug 3.
    • A Survey of BRCA1, BRCA2, and PALB2 mutations in women with breast cancer in Trinidad and Tobago.
    • Donenberg T, Ahmed H, Royer R, Zhang S, Narod SA, George S, Akbari MR, Ali J, Hurley J.
    • Breast Cancer Res Treat. 2016 Aug;159(1):131-8. doi: 10.1007/s10549-016-3870-4. Epub 2016 Jul 28.
    • Comprehensive analysis of BRCA1 and BRCA2 germline mutations in a large cohort of 5931 Chinese women with breast cancer.
    • Zhang J, Sun J, Chen J, Yao L, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Breast Cancer Res Treat. 2016 Aug;158(3):455-62. doi: 10.1007/s10549-016-3902-0. Epub 2016 Jul 8.
    • First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene.
    • Jouali F, Laarabi FZ, Marchoudi N, Ratbi I, Elalaoui SC, Rhaissi H, Fekkak J, Sefiani A.
    • Oncol Lett. 2016 Aug;12(2):1192-1196. Epub 2016 Jun 16.
    • Are genetic testing criteria redundant in the light of next generation sequencing technologies?
    • Charlotte Warren-Gash.
    • PHG Foundation. 2016 July 29.

    Related:

    Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study.

    • 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.

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: VUS

    • Long-term survival and BRCA status in male breast cancer: a retrospective single-center analysis.
    • Gargiulo P, Pensabene M, Milano M, Arpino G, Giuliano M, Forestieri V, Condello C, Lauria R, De Placido S.
    • BMC Cancer. 2016 Jul 4;16(1):375.
    • Breast cancer presentation and therapy in migrant versus native German patients: contrasting and convergent data of a retrospective monocentric study.
    • von Au A, Weiler U, Stefanovic S, Wallwiener M, Heil J, Golatta M, Rom J, Sohn C, Schneeweiss A, Schuetz F, Domschke C.
    • Arch Gynecol Obstet. 2016 Jul;294(1):145-52. doi: 10.1007/s00404-015-3938-0. Epub 2015 Nov 4.
    • Detection of somatic BRCA1/2 mutations in ovarian cancer - next-generation sequencing analysis of 100 cases.
    • Magdalena K, Monika Z, Adam G, Magdalena R, Marzena L, Wojciech B, Janusz L, Bartosz W.
    • Cancer Med. 2016 Jul;5(7):1640-6. doi: 10.1002/cam4.748. Epub 2016 May 11.
    • Multidisciplinary team for elucidation of any new mutation and how this approach can be useful to individualize any genetic result: the case of BRCA2 c.631G>A/c.7008-2A>T genotype Response to: Nagy PL, Mansukhani M. The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations. Expert Rev Mol Diagn 2015;15(9):1101-5.
    • Minucci A, De Bonis M, Costella A, Scambia G, Scandurra G, Capoluongo E.
    • Expert Rev Mol Diagn. 2016 Jul;16(7):715-7. doi: 10.1080/14737159.2016.1184573. Epub 2016 May 17.

    Related:

    Editorial

    The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations.

    • Participation of low-income women in genetic cancer risk assessment and BRCA 1/2 testing: the experience of a safety-net institution.
    • Komenaka IK, Nodora JN, Madlensky L, Winton LM, Heberer MA, Schwab RB, Weitzel JN, Martinez ME.
    • J Community Genet. 2016 Jul;7(3):177-83. doi: 10.1007/s12687-015-0257-x. Epub 2015 Dec 21.
    • Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer.
    • Kast K, Rhiem K, Wappenschmidt B, Hahnen E, Hauke J, Bluemcke B, Zarghooni V, Herold N, Ditsch N, Kiechle M, Braun M, Fischer C, Dikow N, Schott S, Rahner N, Niederacher D, Fehm T, Gehrig A, Mueller-Reible C, Arnold N, Maass N, Borck G, de Gregorio N, Scholz C, Auber B, Varon-Manteeva R, Speiser D, Horvath J, Lichey N, Wimberger P, Stark S, Faust U, Weber BH, Emons G, Zachariae S, Meindl A, Schmutzler RK, Engel C; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC).
    • J Med Genet. 2016 Jul;53(7):465-71. doi: 10.1136/jmedgenet-2015-103672. Epub 2016 Feb 29.
    • Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel.
    • Kwong A, Shin VY, Au CH, Law FB, Ho DN, Ip BK, Wong AT, Lau SS, To RM, Choy G, Ford JM, Ma ES, Chan TL.
    • J Mol Diagn. 2016 Jul;18(4):580-94. doi: 10.1016/j.jmoldx.2016.03.005. Epub 2016 May 5.
    • Founder and Recurrent Mutations in BRCA1 and BRCA2 Genes in Latin American Countries: State of the Art and Literature Review.
    • Ossa CA, Torres D.
    • Oncologist. 2016 Jul;21(7):832-9. doi: 10.1634/theoncologist.2015-0416. Epub 2016 Jun 10.
    • Review
    • [BRCA1/2 gene mutation and clinicopathologic features of triple negative breast cancer].
    • Ma ZP, Wang W, Zhang W.
    • Zhonghua Bing Li Xue Za Zhi. 2016 Jun 8;45(6):397-400. doi: 10.3760/cma.j.issn.0529-5807.2016.06.009.
    • [Article in Chinese]
    • Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.
    • Zhong X, Dong Z, Dong H, Li J, Peng Z, Deng L, Zhu X, Sun Y, Lu X, Shen F, Su X, Zhang L, Gu Y, Zheng H.
    • PLoS One. 2016 Jun 3;11(6):e0156789. doi: 10.1371/journal.pone.0156789. eCollection 2016.
    • Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study.
    • Warren-Gash C, Kroese M, Burton H, Pharoah P.
    • Hered Cancer Clin Pract. 2016 Jun 1;14:12. doi: 10.1186/s13053-016-0052-7. eCollection 2016.

    Related:

    Press: Are genetic testing criteria redundant in the light of next generation sequencing technologies? (PHG Foundation)

    • Exclusive: Breast cancer gene database gives clearer picture of risk.
    • Susan Miller.
    • USA Today. 2016 Jun 1.
    • Commentary regarding Schayek et al., entitled "The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil".
    • Sales Luiz Vianna F, Alemar B, Achatz MI, Camey SA, Ashton-Prolla P.
    • Cancer Genet. 2016 Jun;209(6):282-3. doi: 10.1016/j.cancergen.2016.04.002. Epub 2016 Apr 27.
    • Letter

    Related:

    The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.

    Letter

    The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.

    • The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.
    • Schayek H, De Marco L, Starinsky-Elbaz S, Rossette M, Laitman Y, Bastos-Rodrigues L, Lopes da Silva Filho A, Friedman E.
    • Cancer Genet. 2016 Jun;209(6):283-4. doi: 10.1016/j.cancergen.2016.04.057. Epub 2016 Apr 22.
    • Letter

    Related:

    The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.

    Letter

    Commentary regarding Schayek et al., entitled "The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil".

    • Genetic testing for hereditary breast cancer in Asia-moving forward.
    • Kwong A.
    • Chin Clin Oncol. 2016 Jun;5(3):47. doi: 10.21037/cco.2016.05.11.
    • The origin of the p.E180 growth hormone receptor gene mutation.
    • Ostrer H.
    • Growth Horm IGF Res. 2016 Jun;28:51-2. doi: 10.1016/j.ghir.2015.08.003. Epub 2015 Aug 7.
    • Population-Based BRCA1/2 Testing in Ashkenazi Jews: Ready for Prime Time.
    • Lynce F, Isaacs C.
    • J Natl Compr Canc Netw. 2016 Jun;14(6):809-12.
    • 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;].
    • Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil.
    • Palmero EI, Alemar B, Schüler-Faccini L, Hainaut P, Moreira-Filho CA, Ewald IP, Santos PK, Ribeiro , Oliveira Netto CB, Kelm FL, Tavtigian S, Cossio SL, Giugliani R, Caleffi M, Ashton-Prolla P.
    • Genet Mol Biol. 2016 May 24;39(2):210-22. doi: 10.1590/1678-4685-GMB-2014-0363.
    • The importance of BRCA1 and BRCA2 genes mutations in breast cancer development.
    • Mehrgou A, Akouchekian M.
    • Med J Islam Repub Iran. 2016 May 15;30:369. eCollection 2016.

    Press: TITLE (MEDSCAPE)

    • Oncogenetics service and the Brazilian public health system: the experience of a reference Cancer Hospital.
    • Palmero EI, Galvão HC, Fernandes GC, Paula AE, Oliveira JC, Souza CP, Andrade CE, Romagnolo LG, Volc S, C Neto M, Sabato C, Grasel R, Mauad E, Reis RM, Michelli RA.
    • Genet Mol Biol. 2016 May 13;39(2):168-177. doi: 10.1590/1678-4685-GMB-2014-0364.
    • Triple negative status and BRCA mutations in contralateral breast cancer: a population-based study.
    • Pellegrino B, Bella M, Michiara M, Zanelli P, Naldi N, Porzio R, Bortesi B, Boggiani D, Zanoni D, Camisa R, Neri TM, Pinto C, Musolino A.
    • Acta Biomed. 2016 May 6;87(1):54-63.
    • Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.
    • Parsons DW, Roy A, Yang Y, Wang T, Scollon S, Bergstrom K, Kerstein RA, Gutierrez S, Petersen AK, Bavle A, Lin FY, López-Terrada DH, Monzon FA, Hicks MJ, Eldin KW, Quintanilla NM, Adesina AM, Mohila CA, Whitehead W, Jea A, Vasudevan SA, Nuchtern JG, Ramamurthy U, McGuire AL, Hilsenbeck SG, Reid JG, Muzny DM, Wheeler DA, Berg SL, Chintagumpala MM, Eng CM, Gibbs RA, Plon SE.
    • JAMA Oncol. 2016 May 1;2(5):616-624. doi: 10.1001/jamaoncol.2015.5699.

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    • Panel Testing Is Not a Panacea.
    • Axilbund JE.
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    • Thompson ER, Rowley SM, Li N, McInerny S, Devereux L, Wong-Brown MW, Trainer AH, Mitchell G, Scott RJ, James PA, Campbell IG.
    • J Clin Oncol. 2016 May 1;34(13):1455-9. doi: 10.1200/JCO.2015.63.7454. Epub 2016 Jan 19.

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    • Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE.
    • J Clin Oncol. 2016 May 1;34(13):1460-8. doi: 10.1200/JCO.2015.65.0747. Epub 2016 Mar 14.

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    • Meric-Bernstam F, Brusco L, Daniels M, Wathoo C, Bailey AM, Strong L, Shaw K, Lu K, Qi Y, Zhao H, Lara-Guerra H, Litton J, Arun B, Eterovic AK, Aytac U, Routbort M, Subbiah V, Janku F, Davies MA, Kopetz S, Mendelsohn J, Mills GB, Chen K.
    • Ann Oncol. 2016 May;27(5):795-800. doi: 10.1093/annonc/mdw018. Epub 2016 Jan 19.
    • Evaluation of germline BRCA1 and BRCA2 mutations in a multi-ethnic Asian cohort of ovarian cancer patients.
    • Hasmad HN, Lai KN, Wen WX, Park DJ, Nguyen-Dumont T, Kang PC, Thirthagiri E, Ma'som M, Lim BK, Southey M, Woo YL, Teo SH.
    • Gynecol Oncol. 2016 May;141(2):318-22. doi: 10.1016/j.ygyno.2015.11.001. Epub 2015 Nov 3.
    • KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patients.
    • Kang E, Park SK, Lee JW, Kim Z, Noh WC, Jung Y, Yang JH, Jung SH, Kim SW.
    • J Hum Genet. 2016 May;61(5):365-71. doi: 10.1038/jhg.2015.164. Epub 2016 Jan 14.
    • Clinical and pathological features of BRCA1/2 tumors in a sample of high-risk Moroccan breast cancer patients.
    • Jouhadi H, Tazzite A, Azeddoug H, Naim A, Nadifi S, Benider A.
    • BMC Res Notes. 2016 Apr 29;9(1):248. doi: 10.1186/s13104-016-2057-8.
    • Inherited Mutations in Women With Ovarian Carcinoma.
    • Norquist BM, Harrell MI, Brady MF, Walsh T, Lee MK, Gulsuner S, Bernards SS, Casadei S, Yi Q, Burger RA, Chan JK, Davidson SA, Mannel RS, DiSilvestro PA, Lankes HA, Ramirez NC, King MC, Swisher EM, Birrer MJ.
    • JAMA Oncol. 2016 Apr 1;2(4):482-490. doi: 10.1001/jamaoncol.2015.5495.

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    Comments on NSGC Discussion Forum Cancer SIG

    Subject: article request

    • Breast cancer risk in Chinese women with BRCA1 or BRCA2 mutations.
    • Yao L, Sun J, Zhang J, He Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Breast Cancer Res Treat. 2016 Apr;156(3):441-5. doi: 10.1007/s10549-016-3766-3. Epub 2016 Mar 31.
    • Frequency of germline DNA genetic findings in an unselected prospective cohort of triple-negative breast cancer patients participating in a platinum-based neoadjuvant chemotherapy trial.
    • González-Rivera M, Lobo M, López-Tarruella S, Jerez Y, Del Monte-Millán M, Massarrah T, Ramos-Medina R, Ocaña I, Picornell A, Garzón SS, Pérez-Carbornero L, García-Saenz JA, Gómez H, Moreno F, Márquez-Rodas I, Fuentes H, Martin M.
    • Breast Cancer Res Treat. 2016 Apr;156(3):507-15. doi: 10.1007/s10549-016-3792-1. Epub 2016 Apr 15.
    • Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients.
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    • Cancer Genet. 2016 Apr;209(4):171-6. doi: 10.1016/j.cancergen.2016.02.003. Epub 2016 Feb 15.
    • Screening of the BRCA1 gene in Brazilian patients with breast and/or ovarian cancer via high-resolution melting reaction analysis.
    • de Oliveira ES, Soares BL, Lemos S, Rosa RC, Rodrigues AN, Barbosa LA, de Oliveira Lopes D, Dos Santos LL.
    • Fam Cancer. 2016 Apr;15(2):173-81. doi: 10.1007/s10689-015-9858-0.
    • A new paradigm of genetic testing for hereditary breast/ovarian cancers.
    • Kwong A, Chen JW, Shin VY.
    • Hong Kong Med J. 2016 Apr;22(2):171-7. doi: 10.12809/hkmj154634. Epub 2016 Mar 14.
    • Family history in breast cancer in São Luís, Maranhão, Brazil.
    • Ribeiro MH, da Silva MA, Muniz Filho WE, Nascimento AC, Souza RD, Machado CE, Silva DF, de Barros Bezerra GF, de Castro Viana GM, Soares Brandão Nascimento Mdo D.
    • BMC Res Notes. 2016 Mar 10;9(1):155. doi: 10.1186/s13104-015-1471-7.
    • Genetics of triple-negative breast cancer: Implications for patient care.
    • Afghahi A, Telli ML, Kurian AW.
    • Curr Probl Cancer. 2016 Mar - Aug;40(2-4):130-140. doi: 10.1016/j.currproblcancer.2016.09.007. Epub 2016 Sep 23.
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    • Mutation Screening of BRCA Genes in 10 Iranian Males with Breast Cancer.
    • Zorrieh Zahra A, Kadkhoda S, Behjati F, Aghakhani Moghaddam F, Badiei A, Sirati F, Afshin Alavi H, Atri M, Omranipour R, Keyhani E.
    • Int J Mol Cell Med. 2016 Spring;5(2):114-22. Epub 2016 May 9.
    • Genetic testing in a cohort of young patients with HER2-amplified breast cancer.
    • Eccles DM, Li N, Handwerker R, Maishman T, Copson ER, Durcan LT, Gerty SM, Jones L, Evans DG, Haywood L, Campbell I.
    • Ann Oncol. 2016 Mar;27(3):467-73. doi: 10.1093/annonc/mdv592. Epub 2015 Dec 17.
    • Implementation of a risk assessment program in a breast-imaging community practice.
    • Destounis S, Arieno A, Morgan R.
    • Breast Cancer. 2016 Mar;23(2):273-8. doi: 10.1007/s12282-014-0569-4. Epub 2014 Oct 7.
    • Genetic testing for BRCA1 and BRCA2 in the Province of Ontario.
    • Finch A, Wang M, Fine A, Atri L, Khalouei S, Pupavac M, Rosen B, Eisen A, Elser C, Charames G, Metcalfe K, Chang MC, Narod SA, Lerner-Ellis J.
    • Clin Genet. 2016 Mar;89(3):304-11. doi: 10.1111/cge.12647. Epub 2015 Aug 31.
    • Prevalence of founder mutations in the BRCA1 and BRCA2 genes among unaffected women from the Bahamas.
    • Trottier M, Lunn J, Butler R, Curling D, Turnquest T, Francis W, Halliday D, Royer R, Zhang S, Li S, Thompson I, Donenberg T, Hurley J, Akbari MR, Narod SA.
    • Clin Genet. 2016 Mar;89(3):328-31. doi: 10.1111/cge.12602. Epub 2015 May 31.

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    • De Brakeleer S, De Grève J, Desmedt C, Joris S, Sotiriou C, Piccart M, Pauwels I, Teugels E.
    • Clin Genet. 2016 Mar;89(3):336-40. doi: 10.1111/cge.12620. Epub 2015 Jun 16.
    • Complete Durable Response From Carboplatin and Olaparib in a Heavily Pretreated Triple-Negative Metastatic Breast Cancer With Germline BRCA2 and "BRCAness" Mutations.
    • Hong S, Funchain P, Haddad A, Crowe J, Dalpiaz N, Abraham J.
    • J Oncol Pract. 2016 Mar;12(3):270-2. doi: 10.1200/JOP.2016.010710.
    • Case report
    • ROBO1 deletion as a novel germline alteration in breast and colorectal cancer patients.
    • Villacis RA, Abreu FB, Miranda PM, Domingues MA, Carraro DM, Santos EM, Andrade VP, Rossi BM, Achatz MI, Rogatto SR.
    • Tumour Biol. 2016 Mar;37(3):3145-53. doi: 10.1007/s13277-015-4145-0. Epub 2015 Oct 1.
    • Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.
    • Kim YC, Zhao L, Zhang H, Huang Y, Cui J, Xiao F, Downs B, Wang SM.
    • Oncotarget. 2016 Feb 23;7(8):9600-12. doi: 10.18632/oncotarget.7144.
    • Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.
    • Lin PH, Kuo WH, Huang AC, Lu YS, Lin CH, Kuo SH, Wang MY, Liu CY, Cheng FT, Yeh MH, Li HY, Yang YH, Hsu YH, Fan SC, Li LY, Yu SL, Chang KJ, Chen PL, Ni YH, Huang CS.
    • Oncotarget. 2016 Feb 16;7(7):8310-20. doi: 10.18632/oncotarget.7027.
    • Triple-Negative versus Non-Triple-Negative Breast Cancers in High-Risk Women: Phenotype Features and Survival from the HIBCRIT-1 MRI-Including Screening Study.
    • Podo F, Santoro F, Di Leo G, Manoukian S, de Giacomi C, Corcione S, Cortesi L, Carbonaro LA, Trimboli RM, Cilotti A, Preda L, Bonanni B, Pensabene M, Martincich L, Savarese A, Contegiacomo A, Sardanelli F.
    • Clin Cancer Res. 2016 Feb 15;22(4):895-904. doi: 10.1158/1078-0432.CCR-15-0459. Epub 2015 Oct 26.
    • Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.
    • Silvestri V, Barrowdale D, Mulligan AM, Neuhausen SL, Fox S, Karlan BY, Mitchell G, James P, Thull DL, Zorn KK, Carter NJ, Nathanson KL, Domchek SM, Rebbeck TR, Ramus SJ, Nussbaum RL, Olopade OI, Rantala J, Yoon SY, Caligo MA, Spugnesi L, Bojesen A, Pedersen IS, Thomassen M, Jensen UB, Toland AE, Senter L, Andrulis IL, Glendon G, Hulick PJ, Imyanitov EN, Greene MH, Mai PL, Singer CF, Rappaport-Fuerhauser C, Kramer G, Vijai J, Offit K, Robson M, Lincoln A, Jacobs L, Machackova E, Foretova L, Navratilova M, Vasickova P, Couch FJ, Hallberg E, Ruddy KJ, Sharma P, Kim SW; kConFab Investigators, Teixeira MR, Pinto P, Montagna M, Matricardi L, Arason A, Johannsson OT, Barkardottir RB, Jakubowska A, Lubinski J, Izquierdo A, Pujana MA, Balmaña J, Diez O, Ivady G, Papp J, Olah E, Kwong A; Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Nevanlinna H, Aittomäki K, Perez Segura P, Caldes T, Van Maerken T, Poppe B, Claes KB, Isaacs C, Elan C, Lasset C, Stoppa-Lyonnet D, Barjhoux L, Belotti M, Meindl A, Gehrig A, Sutter C, Engel C, Niederacher D, Steinemann D, Hahnen E, Kast K, Arnold N, Varon-Mateeva R, Wand D, Godwin AK, Evans DG, Frost D, Perkins J, Adlard J, Izatt L, Platte R, Eeles R, Ellis S; EMBRACE, Hamann U, Garber J, Fostira F, Fountzilas G, Pasini B, Giannini G, Rizzolo P, Russo A, Cortesi L, Papi L, Varesco L, Palli D, Zanna I, Savarese A, Radice P, Manoukian S, Peissel B, Barile M, Bonanni B, Viel A, Pensotti V, Tommasi S, Peterlongo P, Weitzel JN, Osorio A, Benitez J, McGuffog L, Healey S, Gerdes AM, Ejlertsen B, Hansen TV, Steele L, Ding YC, Tung N, Janavicius R, Goldgar DE, Buys SS, Daly MB, Bane A, Terry MB, John EM, Southey M, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L.
    • Breast Cancer Res. 2016 Feb 9;18(1):15. doi: 10.1186/s13058-016-0671-y.

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    • Lee SH, Zhou S, Zhou T, Hong G.
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    • Novel germline mutations and unclassified variants of BRCA1 and BRCA2 genes in Chinese women with familial breast/ovarian cancer.
    • Cao WM, Gao Y, Yang HJ, Xie SN, Ding XW, Pan ZW, Ye WW, Wang XJ.
    • BMC Cancer. 2016 Feb 6;16(1):64. doi: 10.1186/s12885-016-2107-6.
    • Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.
    • Cini G, Mezzavilla M, Della Puppa L, Cupelli E, Fornasin A, D'Elia AV, Dolcetti R, Damante G, Bertok S, Miolo G, Maestro R, de Paoli P, Amoroso A, Viel A.
    • BMC Med Genet. 2016 Feb 6;17(1):11. doi: 10.1186/s12881-016-0274-6.
    • Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.
    • Wojcik P, Jasiowka M, Strycharz E, Sobol M, Hodorowicz-Zaniewska D, Skotnicki P, Byrski T, Blecharz P, Marczyk E, Cedrych I, Jakubowicz J, Lubiński J, Sopik V, Narod S, Pierzchalski P.
    • Hered Cancer Clin Pract. 2016 Feb 3;14:5. doi: 10.1186/s13053-016-0046-5. eCollection 2016.
    • Breast cancer in high-risk Afrikaner families: Is BRCA founder mutation testing sufficient?
    • Seymour HJ, Wainstein T, Macaulay S, Haw T, Krause A.
    • S Afr Med J. 2016 Feb 3;106(3):264-7. doi: 10.7196/SAMJ.2016.v106i3.10285.
    • BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population.
    • Nielsen HR, Nilbert M, Petersen J, Ladelund S, Thomassen M, Pedersen IS, Hansen TV, Skytte AB, Borg Å, Therkildsen C.
    • Fam Cancer. 2016 Feb 1. [Epub ahead of print]
    • High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing.
    • Pölsler L, Fiegl H, Wimmer K, Oberaigner W, Amberger A, Traunfellner P, Morscher RJ, Weber I, Fauth C, Wernstedt A, Sperner-Unterweger B, Oberguggenberger A, Hubalek M, Marth C, Zschocke J.
    • Eur J Hum Genet. 2016 Feb;24(2):258-62. doi: 10.1038/ejhg.2015.108. Epub 2015 May 27.
    • Clinical and Pathological Characteristics of Incidental Diagnostic Early Occult Malignancy After Risk-Reducing Salpingo-Oophorectomy in BRCA Mutation Carriers.
    • Lavie O, Moskoviz MG, Auslender R, Gemer O, Bitterman A, Younes G, Segev Y.
    • Int J Gynecol Cancer. 2016 Feb;26(2):233-9. doi: 10.1097/IGC.0000000000000624.
    • Breast cancer detection among Irish BRCA1 & BRCA2 mutation carriers: a population-based study.
    • Walsh EM, Farrell MP, Nolan C, Gallagher F, Clarke R, McCaffrey JA, Kennedy MJ, Barry M, Kell MR, Gallagher D.
    • Ir J Med Sci. 2016 Feb;185(1):189-94. doi: 10.1007/s11845-015-1267-8. Epub 2015 Feb 12.
    • Association of polymorphisms with a family history of cancer and the presence of germline mutations in the BRCA1/BRCA2 genes.
    • Fernandes GC, Michelli RA, Scapulatempo-Neto C, Palmero EI.
    • Hered Cancer Clin Pract. 2016 Jan 13;14:2. doi: 10.1186/s13053-015-0042-1. eCollection 2016.
    • Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.
    • Wong ESY, Shekar S, Met-Domestici M, Chan C, Sze M, Yap YS, Rozen SG, Tan MH, Ang P, Ngeow J, Lee ASG.
    • NPJ Genom Med. 2016 Jan 13;1:15003. doi: 10.1038/npjgenmed.2015.3. eCollection 2016.
    • The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.
    • Schayek H, De Marco L, Starinsky-Elbaz S, Rossette M, Laitman Y, Bastos-Rodrigues L, da Silva Filho AL, Friedman E.
    • Cancer Genet. 2016 Jan-Feb;209(1-2):50-2. doi: 10.1016/j.cancergen.2015.11.003. Epub 2015 Dec 1.
    • Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel.
    • Yablonski-Peretz T, Paluch-Shimon S, Gutman LS, Kaplan Y, Dvir A, Barnes-Kedar I, Kadouri L, Semenisty V, Efrat N, Neiman V, Glasser Y, Michaelson-Cohen R, Katz L, Kaufman B, Golan T, Reish O, Hubert A, Safra T, Yaron Y, Friedman E.
    • Breast Cancer Res Treat. 2016 Jan;155(1):133-8. doi: 10.1007/s10549-015-3662-2. Epub 2015 Dec 19.
    • Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.
    • Hu C, Hart SN, Bamlet WR, Moore RM, Nandakumar K, Eckloff BW, Lee YK, Petersen GM, McWilliams RR, Couch FJ.
    • Cancer Epidemiol Biomarkers Prev. 2016 Jan;25(1):207-11. doi: 10.1158/1055-9965.EPI-15-0455. Epub 2015 Oct 19.
    • Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.
    • Kwong A, Shin VY, Ho JC, Kang E, Nakamura S, Teo SH, Lee AS, Sng JH, Ginsburg OM, Kurian AW, Weitzel JN, Siu MT, Law FB, Chan TL, Narod SA, Ford JM, Ma ES, Kim SW.
    • J Med Genet. 2016 Jan;53(1):15-23. doi: 10.1136/jmedgenet-2015-103132. Epub 2015 Jul 17.
    • Increased risk of male cancer and identification of a potential prostate cancer cluster region in BRCA2.
    • Roed Nielsen H, Petersen J, Therkildsen C, Skytte AB, Nilbert M.
    • Acta Oncol. 2016;55(1):38-44. doi: 10.3109/0284186X.2015.1067714. Epub 2015 Sep 11.
    • Genomic Biomarkers for Breast Cancer Risk.
    • Walsh MF, Nathanson KL, Couch FJ, Offit K.
    • Adv Exp Med Biol. 2016;882:1-32. doi: 10.1007/978-3-319-22909-6_1.
    • Review
    • Breast Cancer in Pakistan a Critical Appraisal of the Situation Regarding Female Health and Where the Nation Stands?
    • Basra MA, Saher M, Athar MM, Raza MH.
    • Asian Pac J Cancer Prev. 2016;17(7):3035-41.
    • 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.
    • Screening for Del 185 AG and 4627C>A BRCA1 Mutations in Breast Cancer Patients from Lahore, Pakistan.
    • Aziz F, Fatima W, Mahmood S, Khokher S.
    • Asian Pac J Cancer Prev. 2016;17(4):1725-7.
    • A Pilot Study on Screening of BRCA1 Mutations (185delAG, 1294del40) in Nepalese Breast Cancer Patients.
    • Bhatta B, Thapa R, Shahi S, Bhatta Y, Pandeya DR, Poudel BH.
    • Asian Pac J Cancer Prev. 2016;17(4):1829-32.
    • Screening of BRCA1/2 Mutations Using Direct Sequencing in Indonesian Familial Breast Cancer Cases.
    • Anwar SL, Haryono SJ, Aryandono T, Datasena IG.
    • Asian Pac J Cancer Prev. 2016;17(4):1987-91.
    • BRCA1 Gene Mutations and Influence of Chemotherapy on Autophagy and Apoptotic Mechanisms in Egyptian Breast Cancer Patients.
    • Abdel-Mohsen MA, Ahmed OA, El-Kerm YM.
    • Asian Pac J Cancer Prev. 2016;17(3):1285-92.
    • 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.
    • Mutation Spectra of BRCA Genes in Iranian Women with Early Onset Breast Cancer - 15 Years Experience.
    • Yassaee VR, Ravesh Z, Soltani Z, Hashemi-Gorji F, Poorhosseini SM, Anbiaee R, Joulaee A.
    • Asian Pac J Cancer Prev. 2016;17 Spec No.:149-53.
    • Contribution of BRCA1 and BRCA2 Germline Mutations to Early Algerian Breast Cancer.
    • Henouda S, Bensalem A, Reggad R, Serrar N, Rouabah L, Pujol P.
    • Dis Markers. 2016;2016:7869095. doi: 10.1155/2016/7869095. Epub 2016 Feb 22.
    • Identification of germline genetic mutations in patients with pancreatic cancer.
    • Salo-Mullen EE, O'Reilly EM, Kelsen DP, Ashraf AM, Lowery MA, Yu KH, Reidy DL, Epstein AS, Lincoln A, Saldia A, Jacobs LM, Rau-Murthy R, Zhang L, Kurtz RC, Saltz L, Offit K, Robson ME, Stadler ZK.
    • Cancer. 2015 Dec 15;121(24):4382-4388. doi: 10.1002/cncr.29664. Epub 2015 Oct 6.
    • Germline Mutations in Predisposition Genes in Pediatric Cancer.
    • Zhang J, Walsh MF, Wu G, Edmonson MN, Gruber TA, Easton J, Hedges D, Ma X, Zhou X, Yergeau DA, Wilkinson MR, Vadodaria B, Chen X, McGee RB, Hines-Dowell S, Nuccio R, Quinn E, Shurtleff SA, Rusch M, Patel A, Becksfort JB, Wang S, Weaver MS, Ding L, Mardis ER, Wilson RK, Gajjar A, Ellison DW, Pappo AS, Pui CH, Nichols KE, Downing JR.
    • N Engl J Med. 2015 Dec 10;373(24):2336-2346. Epub 2015 Nov 18.

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    Germline Mutations in Predisposition Genes in Pediatric Cancer.

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    • A high frequency of BRCA mutations in young black women with breast cancer residing in Florida.
    • Pal T, Bonner D, Cragun D, Monteiro AN, Phelan C, Servais L, Kim J, Narod SA, Akbari MR, Vadaparampil ST.
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    • Germline BRCA Mutations in a Large Clinic-Based Cohort of Patients With Pancreatic Adenocarcinoma.
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    Related:

    Comment / Editorial

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

    • Initial Results of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.
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    • Deleterious BRCA1/2 mutations in an urban population of Black women.
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    • Case report, Letter
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    Related:

    Commentary

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

    • Is it time to offer BRCA1 and BRCA2 testing to all Jewish women?
    • Metcalfe KA, Eisen A, Lerner-Ellis J, Narod SA.
    • Curr Oncol. 2015 Aug;22(4):e233-6. doi: 10.3747/co.22.2527.
    • Familial Pancreatic Adenocarcinoma.
    • Petersen GM.
    • Hematol Oncol Clin North Am. 2015 Aug;29(4):641-53. doi: 10.1016/j.hoc.2015.04.007. Epub 2015 Jun 9.
    • Review
    • AGO Austria recommendations for genetic testing of patients with ovarian cancer.
    • Marth C, Hubalek M, Petru E, Polterauer S, Reinthaller A, Schauer C, Scholl-Firon T, Singer CF, Zschocke J, Zeimet AG.
    • Wien Klin Wochenschr. 2015 Aug;127(15-16):652-4. doi: 10.1007/s00508-015-0814-7.
    • Predictive Factors for BRCA1 and BRCA2 Genetic Testing in an Asian Clinic-Based Population.
    • Wong ES, Shekar S, Chan CH, Hong LZ, Poon SY, Silla T, Lin C, Kumar V, Davila S, Voorhoeve M, Thike AA, Ho GH, Yap YS, Tan PH, Tan MH, Ang P, Lee AS.
    • PLoS One. 2015 Jul 29;10(7):e0134408. doi: 10.1371/journal.pone.0134408. eCollection 2015.
    • Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients.
    • Dodova RI, Mitkova AV, Dacheva DR, Hadjo LB, Vlahova AI, -Hadjieva MS, Valev SS, Caulevska MM, Popova SD, Popov IE, Dikov TI, Sedloev TA, Ionkov AS, Timcheva KV, Christova SL, Kremensky IM, Mitev VI, Kaneva RP.
    • BMC Cancer. 2015 Jul 17;15(1):523. doi: 10.1186/s12885-015-1516-2.
    • Epidemiological and clinicopathological characteristics of BRCA-positive and BRCA-negative breast cancer patients in Greece.
    • Triantafyllidou O, Vlachos IS, Apostolou P, Konstantopoulou I, Grivas A, Panopoulos C, Dimitrakakis C, Kassanos D, Loghis C, Bramis I, Vlahos N, Yannoukakos D, Fostira F.
    • J BUON. 2015 Jul-Aug;20(4):978-84.
    • Genetics of breast cancer: a topic in evolution.
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    • The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.
    • Peixoto A, Santos C, Pinto P, Pinheiro M, Rocha P, Pinto C, Bizarro S, Veiga I, Principe AS, Maia S, Castro F, Couto R, Gouveia A, Teixeira MR.
    • Clin Genet. 2015 Jul;88(1):41-8. doi: 10.1111/cge.12441. Epub 2014 Jul 26.
    • Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
    • Karageorgos I, Mizzi C, Giannopoulou E, Pavlidis C, Peters BA, Zagoriti Z, Stenson PD, Mitropoulos K, Borg J, Kalofonos HP, Drmanac R, Stubbs A, van der Spek P, Cooper DN, Katsila T, Patrinos GP.
    • Hum Genomics. 2015 Jun 20;9:12. doi: 10.1186/s40246-015-0034-2.
    • Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers.
    • Domagala P, Jakubowska A, Jaworska-Bieniek K, Kaczmarek K, Durda K, Kurlapska A, Cybulski C, Lubinski J.
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    • Breast cancer: Diagnostic service shares BRCA data.
    • Strom C.
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    • Comment, Lettere

    Related:

    Editorial

    Thank you for sharing.

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

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Excellent review paper in NEJM

    Comment / Letter

    ClinGen and Genetic Testing.

    • Germ-Line, Other Actionable Mutations Reported with Next-Generation Sequencing.
    • [No author given]
    • ASCO Daily News. 2015 ASCO Annual Meeting. 2015 Jun 1.
    • Breast cancer in women in their thirties (2007-2013): A retrospective review.
    • Arleo EK, Reichman M, Dashevsky BZ, Babagbemi K, Drotman M.
    • Breast Dis. 2015 Jun 1;35(2):87-93. doi: 10.3233/BD-150400.
    • Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway.
    • Loke J, Pearlman A, Upadhyay K, Tesfa L, Shao Y, Ostrer H.
    • Hum Mol Genet. 2015 Jun 1;24(11):3030-7. doi: 10.1093/hmg/ddv048. Epub 2015 Feb 4.
    • BRCA2 gene: a candidate for clinical testing in familial colorectal cancer type X.
    • Garre P, Martín L, Sanz J, Romero A, Tosar A, Bando I, Llovet P, Diaque P, García-Paredes B, Díaz-Rubio E, de la Hoya M, Caldés T.
    • Clin Genet. 2015 Jun;87(6):582-7. doi: 10.1111/cge.12427. Epub 2014 Jun 18.
    • Response to "biologic, demographic, and social factors affecting triple negative breast cancer outcomes".
    • [No authors listed]
    • Clin J Oncol Nurs. 2015 Jun;19(3):244. doi: 10.1188/15.CJON.244.
    • Comment, Letter

    Related:

    Biologic, demographic, and social factors affecting triple negative breast cancer outcomes.

    • Breast Cancer Risk Gene Discovery: Opportunities and Challenges.
    • Fabienne Lesueur.
    • Current Genetic Medicine Reports 3(2):8-91. 2015 Jun.
    • Review
    • Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features.
    • James PA, Sawyer S, Boyle S, Young MA, Kovalenko S, Doherty R, McKinley J, Alsop K, Beshay V, Harris M, Fox S, Lindeman GJ, Mitchell G.
    • Fam Cancer. 2015 Jun;14(2):287-95. doi: 10.1007/s10689-015-9785-0.
    • Breast cancer correlates in a cohort of breast screening program participants in Riyadh, KSA.
    • Al-Amri FA, Saeedi MY, Al-Tahan FM, Ali AM, Alomary SA, Arafa M, Ibrahim AK, Kassim KA.
    • J Egypt Natl Canc Inst. 2015 Jun;27(2):77-82. doi: 10.1016/j.jnci.2015.04.002. Epub 2015 Apr 29.
    • Double PALB2 and BRCA1/BRCA2 mutation carriers are rare in breast cancer and breast-ovarian cancer syndrome families from the French Canadian founder population.
    • Ancot F, Arcand SL, Mes-Masson AM, Provencher DM, Tonin PN.
    • Oncol Lett. 2015 Jun;9(6):2787-2790. Epub 2015 Apr 20.
    • Survey on Addressing the Information and Support Needs of Jewish Women at Increased Risk for or Diagnosed with Breast Cancer: The Sharsheret Experience.
    • Tercyak KP, Silber E, Johnson AC, Fleischmann A, Murphy SE, Mays D, O'Neill SC, Sharkey CM, Shoretz R.
    • Healthcare (Basel). 2015 May 22;3(2):324-37. doi: 10.3390/healthcare3020324.
    • New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.
    • Kluska A, Balabas A, Paziewska A, Kulecka M, Nowakowska D, Mikula M, Ostrowski J.
    • BMC Med Genomics. 2015 May 7;8:19. doi: 10.1186/s12920-015-0092-2.
    • Behind the Scenes of Breast Cancer, Researchers Collect Genetic Clues in BRCA Database.
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    • GlobeNewswire. 2015 May 7.
    • New Study on 'Very Hot Topic' in BRCA Testing.
    • Roxanne Nelson.
    • Medscape Medical News. American Society of Breast Surgeons (ASBS) 16th Annual Meeting. 2015 May 4.
    • Genotype-Phenotype Correlations by Ethnicity and Mutation Location in BRCA Mutation Carriers.
    • Bayraktar S, Jackson M, Gutierrez-Barrera AM, Liu D, Meric-Bernstam F, Brandt A, Woodson A, Litton J, Lu KH, Valero V, Arun BK.
    • Breast J. 2015 May-Jun;21(3):260-7. doi: 10.1111/tbj.12392. Epub 2015 Mar 19.
    • A Comparative Analysis of Breast and Ovarian Cancer-related Gene Mutations in Canadian and Saudi Arabian Patients with Breast Cancer.
    • Amemiya Y, Bacopulos S, Al-Shawarby M, Al-Tamimi D, Naser W, Ahmed A, Khalifa M, Slodkowska E, Seth A.
    • Anticancer Res. 2015 May;35(5):2601-10.
    • The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.
    • Kang E, Seong MW, Park SK, Lee JW, Lee J, Kim LS, Lee JE, Kim SY, Jeong J, Han SA, Kim SW; Korean Hereditary Breast Cancer Study Group.
    • Breast Cancer Res Treat. 2015 May;151(1):157-68. doi: 10.1007/s10549-015-3377-4. Epub 2015 Apr 12.
    • Evaluation of the Dutch BRCA1/2 clinical genetic center referral criteria in an unselected early breast cancer population.
    • van den Broek AJ, de Ruiter K, van 't Veer LJ, Tollenaar RA, van Leeuwen FE, Verhoef S, Schmidt MK.
    • Eur J Hum Genet. 2015 May;23(5):588-595. doi: 10.1038/ejhg.2014.161. Epub 2014 Aug 20.
    • Fertility treatments and invasive epithelial ovarian cancer risk in Jewish Israeli BRCA1 or BRCA2 mutation carriers.
    • Perri T, Lifshitz D, Sadetzki S, Oberman B, Meirow D, Ben-Baruch G, Friedman E, Korach J.
    • Fertil Steril. 2015 May;103(5):1305-12. doi: 10.1016/j.fertnstert.2015.02.011. Epub 2015 Mar 16.
    • 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.
    • Identification of a Comprehensive Spectrum of Genetic Factors for Hereditary Breast Cancer in a Chinese Population by Next-Generation Sequencing.
    • Yang X, Wu J, Lu J, Liu G, Di G, Chen C, Hou Y, Sun M, Yang W, Xu X, Zhao Y, Hu X, Li D, Cao Z, Zhou X, Huang X, Liu Z, Chen H, Gu Y, Chi Y, Yan X, Han Q, Shen Z, Shao Z, Hu Z.
    • PLoS One. 2015 Apr 30;10(4):e0125571. doi: 10.1371/journal.pone.0125571.
    • Letters from iceland.
    • [No authors listed]
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    Related:

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

    Research News

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

    • BRCA Share (formerly UMD-BRCA1 mutations database) Home.
    • [No author given]
    • BRCA Share™ (formerly UMD-BRCA1 mutations database). 2015 Apr 21.
    • Familial clustering of breast and prostate cancer and risk of postmenopausal breast cancer in the Women's Health Initiative Study.
    • Beebe-Dimmer JL, Yee C, Cote ML, Petrucelli N, Palmer N, Bock C, Lane D, Agalliu I, Stefanick ML, Simon MS.
    • Cancer. 2015 Apr 15;121(8):1265-72. doi: 10.1002/cncr.29075. Epub 2015 Mar 9.

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

    • Patterns of changing cancer risks with time since diagnosis of a sibling.
    • Lee M, Czene K, Rebora P, Reilly M.
    • Int J Cancer. 2015 Apr 15;136(8):1948-56. doi: 10.1002/ijc.29239. Epub 2014 Oct 10.
    • Candidate gene analysis of BRCA1/2 mutation-negative high-risk Russian breast cancer patients.
    • Sokolenko AP, Preobrazhenskaya EV, Aleksakhina SN, Iyevleva AG, Mitiushkina NV, Zaitseva OA, Yatsuk OS, Tiurin VI, Strelkova TN, Togo AV, Imyanitov EN.
    • Cancer Lett. 2015 Apr 10;359(2):259-61. doi: 10.1016/j.canlet.2015.01.022. Epub 2015 Jan 22.
    • Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer.
    • Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, Mazoyer S, Chenevix-Trench G, Easton DF, Antoniou AC, Nathanson KL; and the CIMBA Consortium, Laitman Y, Kushnir A, Paluch-Shimon S, Berger R, Zidan J, Friedman E, Ehrencrona H, Stenmark-Askmalm M, Einbeigi Z, Loman N, Harbst K, Rantala J, Melin B, Huo D, Olopade OI, Seldon J, Ganz PA, Nussbaum RL, Chan SB, Odunsi K, Gayther SA, Domchek SM, Arun BK, Lu KH, Mitchell G, Karlan BY, Walsh C, Lester J, Godwin AK, Pathak H, Ross E, Daly MB, Whittemore AS, John EM, Miron A, Terry MB, Chung WK, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Ejlertsen B, Gerdes AM, Hansen TV, Ramón Y Cajal T, Osorio A, Benitez J, Godino J, Tejada MI, Duran M, Weitzel JN, Bobolis KA, Sand SR, Fontaine A, Savarese A, Pasini B, Peissel B, Bonanni B, Zaffaroni D, Vignolo-Lutati F, Scuvera G, Giannini G, Bernard L, Genuardi M, Radice P, Dolcetti R, Manoukian S, Pensotti V, Gismondi V, Yannoukakos D, Fostira F, Garber J, Torres D, Rashid MU, Hamann U, Peock S, Frost D, Platte R, Evans DG, Eeles R, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Hodgson S, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Izatt L, Adlard J, Donaldson A, Ellis S, Sharma P, Schmutzler RK, Wappenschmidt B, Becker A, Rhiem K, Hahnen E, Engel C, Meindl A, Engert S, Ditsch N, Arnold N, Plendl HJ, Mundhenke C, Niederacher D, Fleisch M, Sutter C, Bartram CR, Dikow N, Wang-Gohrke S, Gadzicki D, Steinemann D, Kast K, Beer M, Varon-Mateeva R, Gehrig A, Weber BH, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Houdayer C, Belotti M, Gauthier-Villars M, Damiola F, Boutry-Kryza N, Lasset C, Sobol H, Peyrat JP, Muller D, Fricker JP, Collonge-Rame MA, Mortemousque I, Nogues C, Rouleau E, Isaacs C, De Paepe A, Poppe B, Claes K, De Leeneer K, Piedmonte M, Rodriguez G, Wakely K, Boggess J, Blank SV, Basil J, Azodi M, Phillips KA, Caldes T, de la Hoya M, Romero A, Nevanlinna H, Aittomäki K, van der Hout AH, Hogervorst FB, Verhoef S, Collée JM, Seynaeve C, Oosterwijk JC, Gille JJ, Wijnen JT, Garcia EB, Kets CM, Ausems MG, Aalfs CM, Devilee P, Mensenkamp AR, Kwong A, Olah E, Papp J, Diez O, Lazaro C, Darder E, Blanco I, Salinas M, Jakubowska A, Lubinski J, Gronwald J, Jaworska-Bieniek K, Durda K, Sukiennicki G, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A, Zlowocka-Perlowska E, Menkiszak J, Arason A, Barkardottir RB, Simard J, Laframboise R, Montagna M, Agata S, Alducci E, Peixoto A, Teixeira MR, Spurdle AB, Lee MH, Park SK, Kim SW, Friebel TM, Couch FJ, Lindor NM, Pankratz VS, Guidugli L, Wang X, Tischkowitz M, Foretova L, Vijai J, Offit K, Robson M, Rau-Murthy R, Kauff N, Fink-Retter A, Singer CF, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Berger A, Greene MH, Mai PL, Imyanitov EN, Toland AE, Senter L, Bojesen A, Pedersen IS, Skytte AB, Sunde L, Thomassen M, Moeller ST, Kruse TA, Jensen UB, Caligo MA, Aretini P, Teo SH, Selkirk CG, Hulick PJ, Andrulis I.
    • JAMA. 2015 Apr 7;313(13):1347-1361. doi: 10.1001/jama.2014.5985.

    Related:

    News

    BRCA1 and BRCA2 mutation type associated with cancer risk.

    Research Highlight

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

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

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

    • Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk.
    • Judkins T, Leclair B, Bowles K, Gutin N, Trost J, McCulloch J, Bhatnagar S, Murray A, Craft J, Wardell B, Bastian M, Mitchell J, Chen J, Tran T, Williams D, Potter J, Jammulapati S, Perry M, Morris B, Roa B, Timms K.
    • BMC Cancer. 2015 Apr 2;15:215. doi: 10.1186/s12885-015-1224-y.
    • Cancer risks in Jewish male BRCA1 and BRCA2 mutation carriers.
    • Laitman Y, Keinan Boker L, Liphsitz I, Weissglas-Volkov D, Litz-Philipsborn S, Schayek H, Friedman E.
    • Breast Cancer Res Treat. 2015 Apr;150(3):631-5. doi: 10.1007/s10549-015-3340-4. Epub 2015 Mar 19.
    • The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer.
    • Villarreal-Garza C, Weitzel JN, Llacuachaqui M, Sifuentes E, Magallanes-Hoyos MC, Gallardo L, Alvarez-Gómez RM, Herzog J, Castillo D, Royer R, Akbari M, Lara-Medina F, Herrera LA, Mohar A, Narod SA.
    • Breast Cancer Res Treat. 2015 Apr;150(2):389-94. doi: 10.1007/s10549-015-3312-8. Epub 2015 Feb 26.
    • Breast Cancer Risk Associated with Estrogen Exposure and Truncating Mutation Location in BRCA1/2 Carriers.
    • Lecarpentier J, Noguès C, Mouret-Fourme E, Buecher B, Gauthier-Villars M, Stoppa-Lyonnet D, Bonadona V, Fricker JP, Berthet P, Caron O, Coupier I, Pujol P, Faivre L, Gesta P, Eisinger F, Mari V, Gladieff L, Lortholary A, Luporsi E, Leroux D, Venat-Bouvet L, Maugard CM, Colas C, Tinat J, Lasset C, Andrieu N; GENEPSO.
    • Cancer Epidemiol Biomarkers Prev. 2015 Apr;24(4):698-707. Epub 2015 Jan 22.
    • To Reflex or Not: Additional BRCA1/2 Testing in Ashkenazi Jewish Individuals Without Founder Mutations.
    • Petrucelli N, Mange S, Fulbright JL, Dohany L, Zakalik D, Duquette D.
    • J Genet Couns. 2015 Apr;24(2):285-293. Epub 2014 Sep 9.
    • Validation of an NGS Approach for Diagnostic BRCA1/BRCA2 Mutation Testing.
    • Dacheva D, Dodova R, Popov I, Goranova T, Mitkova A, Mitev V, Kaneva R.
    • Mol Diagn Ther. 2015 Apr;19(2):119-30. doi: 10.1007/s40291-015-0136-5.
    • BRCA1 and BRCA2 mutations in ethnic Lebanese Arab women with high hereditary risk breast cancer.
    • El Saghir NS, Zgheib NK, Assi HA, Khoury KE, Bidet Y, Jaber SM, Charara RN, Farhat RA, Kreidieh FY, Decousus S, Romero P, Nemer GM, Salem Z, Shamseddine A, Tfayli A, Abbas J, Jamali F, Seoud M, Armstrong DK, Bignon YJ, Uhrhammer N.
    • Oncologist. 2015 Apr;20(4):357-64. doi: 10.1634/theoncologist.2014-0364. Epub 2015 Mar 16.
    • A targeted analysis identifies a high frequency of BRCA1 and BRCA2 mutation carriers in women with ovarian cancer from a founder population.
    • Belanger MH, Dolman L, Arcand SL, Shen Z, Chong G, Mes-Masson AM, Provencher D, Tonin PN.
    • J Ovarian Res. 2015 Mar 27;8(1):1. doi: 10.1186/s13048-015-0124-8.
    • ICan: An Integrated Co-Alteration Network to Identify Ovarian Cancer-Related Genes.
    • Zhou Y, Liu Y, Li K, Zhang R, Qiu F, Zhao N, Xu Y.
    • PLoS One. 2015 Mar 24;10(3):e0116095. doi: 10.1371/journal.pone.0116095. eCollection 2015.
    • Clinical and molecular characteristics of triple-negative breast cancer patients in Northern Israel: single center experience.
    • Asleh-Aburaya K, Fried G.
    • Springerplus. 2015 Mar 15;4:132. doi: 10.1186/s40064-015-0900-3. eCollection 2015.
    • Familial Risks and Estrogen Receptor-Positive Breast Cancer in Hong Kong Chinese Women.
    • Tse LA, Li M, Chan WC, Kwok CH, Leung SL, Wu C, Yu IT, Yu WC, Lao X, Wang X, Wong CK, Lee PM, Wang F, Yang XR.
    • PLoS One. 2015 Mar 10;10(3):e0120741. doi: 10.1371/journal.pone.0120741.
    • Prevalence of BRCA1 mutations and responses to neoadjuvant chemotherapy among BRCA1 carriers and non-carriers with triple-negative breast cancer.
    • Wang C, Zhang J, Wang Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Ann Oncol. 2015 Mar;26(3):523-8. doi: 10.1093/annonc/mdu559. Epub 2014 Dec 5.
    • Disparities in breast cancer and african ancestry: a global perspective.
    • Newman LA.
    • Breast J. 2015 Mar;21(2):133-9. doi: 10.1111/tbj.12369. Epub 2015 Jan 9.
    • Review
    • Recurrent BRCA1 and BRCA2 Mutations in Mexican Women with Breast Cancer.
    • Torres-Mejía G, Royer R, Llacuachaqui M, Akbari MR, Giuliano AR, Martínez-Matsushita L, Angeles-Llerenas A, Ortega-Olvera C, Ziv E, Lazcano-Ponce E, Phelan CM, Narod SA.
    • Cancer Epidemiol Biomarkers Prev. 2015 Mar;24(3):498-505. doi: 10.1158/1055-9965.EPI-13-0980. Epub 2014 Nov 4.
    • Recurrent mutations of BRCA1 and BRCA2 in Poland: an update.
    • Szwiec M, Jakubowska A, Górski B, Huzarski T, Tomiczek-Szwiec J, Gronwald J, Dębniak T, Byrski T, Kluźniak W, Wokołorczyk D, Birkenfeld B, Akbari MR, Narod SA, Lubiński J, Cybulski C.
    • Clin Genet. 2015 Mar;87(3):288-292. doi: 10.1111/cge.12360. Epub 2014 Mar 12.
    • Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing.
    • Guan Y, Hu H, Peng Y, Gong Y, Yi Y, Shao L, Liu T, Li G, Wang R, Dai P, Bignon YJ, Xiao Z, Yang L, Mu F, Xiao L, Xie Z, Yan W, Xu N, Zhou D, Yi X.
    • Fam Cancer. 2015 Mar;14(1):9-18. doi: 10.1007/s10689-014-9749-9.
    • Estimate of the penetrance of BRCA mutation and the COS software for the assessment of BRCA mutation probability.
    • Berrino J, Berrino F, Francisci S, Peissel B, Azzollini J, Pensotti V, Radice P, Pasanisi P, Manoukian S.
    • Fam Cancer. 2015 Mar;14(1):117-28. doi: 10.1007/s10689-014-9766-8.
    • BRCA1 and BRCA2 mutations in Iranian breast cancer patients: A systematic review.
    • Neamatzadeh H, Shiryazdi SM, Kalantar SM.
    • J Res Med Sci. 2015 Mar;20(3):284-93.
    • Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing.
    • Hirotsu Y, Nakagomi H, Sakamoto I, Amemiya K, Mochizuki H, Omata M.
    • Mol Genet Genomic Med. 2015 Mar;3(2):121-9. doi: 10.1002/mgg3.120. Epub 2014 Dec 4.
    • Screening of exon 11 of BRCA1 gene using the high resolution melting approach for diagnosis in Moroccan breast cancer patients.
    • El Khachibi M, Diakite B, Hamzi K, Badou A, Senhaji MA, Bakhchane A, Jouhadi H, Barakat A, Benider A, Nadifi S.
    • BMC Cancer. 2015 Feb 25;15:81. doi: 10.1186/s12885-015-1040-4.
    • Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico.
    • Villarreal-Garza C, Alvarez-Gómez RM, Pérez-Plasencia C, Herrera LA, Herzog J, Castillo D, Mohar A, Castro C, Gallardo LN, Gallardo D, Santibáñez M, Blazer KR, Weitzel JN.
    • Cancer. 2015 Feb 1;121(3):372-8. doi: 10.1002/cncr.29058. Epub 2014 Sep 18.
    • DNA repair mutations and outcomes in ovarian cancer--letter.
    • Soslow RA.
    • Clin Cancer Res. 2015 Feb 1;21(3):658. doi: 10.1158/1078-0432.CCR-14-2436.

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

    Comment / Letter

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

    • Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
    • Couch FJ, Hart SN, Sharma P, Toland AE, Wang X, Miron P, Olson JE, Godwin AK, Pankratz VS, Olswold C, Slettedahl S, Hallberg E, Guidugli L, Davila JI, Beckmann MW, Janni W, Rack B, Ekici AB, Slamon DJ, Konstantopoulou I, Fostira F, Vratimos A, Fountzilas G, Pelttari LM, Tapper WJ, Durcan L, Cross SS, Pilarski R, Shapiro CL, Klemp J, Yao S, Garber J, Cox A, Brauch H, Ambrosone C, Nevanlinna H, Yannoukakos D, Slager SL, Vachon CM, Eccles DM, Fasching PA.
    • J Clin Oncol. 2015 Feb 1;33(4):304-11. doi: 10.1200/JCO.2014.57.1414. Epub 2014 Dec 1.

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    Evolution of genetic testing for inherited susceptibility to breast cancer.

    • Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.
    • Wong-Brown MW, Meldrum CJ, Carpenter JE, Clarke CL, Narod SA, Jakubowska A, Rudnicka H, Lubinski J, Scott RJ.
    • Breast Cancer Res Treat. 2015 Feb;150(1):71-80. doi: 10.1007/s10549-015-3293-7. Epub 2015 Feb 15.

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    Press: Breast cancer gene breakthrough. (Health Canal)

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

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Slides/Data from NSGC

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

    Related:

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

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

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

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

    Related:

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

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

    • The functional BRCA1 rs799917 genetic polymorphism is associated with gastric cancer risk in a Chinese Han population.
    • Wang K, Xu L, Pan L, Xu K, Li G.
    • Tumour Biol. 2015 Jan;36(1):393-7. doi: 10.1007/s13277-014-2655-9. Epub 2014 Sep 30.
    • Absence of 185delAG and 6174delT Mutations among Breast Cancer Patients of Eastern India.
    • Chakraborty A, Banerjee D, Basak J, Mukhopadhyay A.
    • Asian Pac J Cancer Prev. 2015;16(17):7929-33.
    • Targeted Resequencing of 30 Genes Improves the Detection of Deleterious Mutations in South Indian Women with Breast and/or Ovarian Cancers.
    • Rajkumar T, Meenakumari B, Mani S, Sridevi V, Sundersingh S.
    • Asian Pac J Cancer Prev. 2015;16(13):5211-7.
    • The spectrum of genetic mutations in breast cancer.
    • Sheikh A, Hussain SA, Ghori Q, Naeem N, Fazil A, Giri S, Sathian B, Mainali P, Al Tamimi DM.
    • Asian Pac J Cancer Prev. 2015;16(6):2177-85.
    • BRCA1 and BRCA2 common mutations in iranian breast cancer patients: a meta analysis.
    • Forat-Yazdi M, Neamatzadeh H, Sheikhha MH, Zare-Shehneh M, Fattahi M.
    • Asian Pac J Cancer Prev. 2015;16(3):1219-24.
    • Androgen receptor, EGFR, and BRCA1 as biomarkers in triple-negative breast cancer: a meta-analysis.
    • Zhang L, Fang C, Xu X, Li A, Cai Q, Long X.
    • Biomed Res Int. 2015;2015:357485. doi: 10.1155/2015/357485. Epub 2015 Jan 28.
    • BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African.
    • Laraqui A, Uhrhammer N, Rhaffouli HE, Sekhsokh Y, Lahlou-Amine I, Bajjou T, Hilali F, El Baghdadi J, Al Bouzidi A, Bakri Y, Amzazi S, Bignon YJ.
    • Dis Markers. 2015;2015:194293. doi: 10.1155/2015/194293. Epub 2015 Feb 28.
    • BRCA1 5382insC founder mutation has not a significative recurrent presence in Northeastern Romanian cancer patients.
    • Negură L, Duşa CP, Balmuş MI, Azoicăi D, Negură AM, Marinca MV, Miron L.
    • Rom J Morphol Embryol. 2015;56(2):379-85.
    • Clinical and pathological characteristics of Hispanic BRCA-associated breast cancers in the American-Mexican border city of El Paso, TX.
    • Nahleh Z, Otoukesh S, Dwivedi AK, Mallawaarachchi I, Sanchez L, Saldivar JS, Cataneda K, Heydarian R.
    • Am J Cancer Res. 2014 Dec 15;5(1):466-71. eCollection 2015.
    • Family history of breast and ovarian cancer and triple negative subtype in hispanic/latina women.
    • Anderson K, Thompson PA, Wertheim BC, Martin L, Komenaka IK, Bondy M, Daneri-Navarro A, Meza-Montenegro MM, Gutierrez-Millan LE, Brewster A, Madlensky L, Tobias M, Natarajan L, Martínez ME.
    • Springerplus. 2014 Dec 11;3:727. doi: 10.1186/2193-1801-3-727. eCollection 2014.
    • Novel and recurrent BRCA2 mutations in Italian breast/ovarian cancer families widen the ovarian cancer cluster region boundaries to exons 13 and 14.
    • Coppa A, Buffone A, Capalbo C, Nicolussi A, D'Inzeo S, Belardinilli F, Colicchia V, Petroni M, Granato T, Midulla C, Zani M, Ferraro S, Screpanti I, Gulino A, Giannini G.
    • Breast Cancer Res Treat. 2014 Dec;148(3):629-35. doi: 10.1007/s10549-014-3196-z. Epub 2014 Nov 14.
    • High-resolution melting (HRM) assay for the detection of recurrent BRCA1/BRCA2 germline mutations in Tunisian breast/ovarian cancer families.
    • Riahi A, Kharrat M, Lariani I, Chaabouni-Bouhamed H.
    • Fam Cancer. 2014 Dec;13(4):603-9. doi: 10.1007/s10689-014-9740-5.
    • Breast cancer genes: looking for BRACA's lost brother.
    • Cornejo-Moreno BA, Uribe-Escamilla D, Salamanca-Gómez F.
    • Isr Med Assoc J. 2014 Dec;16(12):787-92.
    • Screening for common mutations in BRCA1 and BRCA2 genes: interest in genetic testing of Tunisian families with breast and/or ovarian cancer.
    • Fourati A, Louchez MM, Fournier J, Gamoudi A, Rahal K, El May MV, El May A, Revillion F, Peyrat JP.
    • Bull Cancer. 2014 Nov 1;101(11):36-40. doi: 10.1684/bdc.2014.2049.
    • Issues of concern in risk assessment, genetic counseling, and genetic testing of younger breast cancer patients in Japan.
    • Bando H.
    • Breast Cancer. 2014 Nov;21(6):656-63. doi: 10.1007/s12282-013-0477-z. Epub 2013 Jun 11.
    • Variation in Mutation Spectrum Partly Explains Regional Differences in the Breast Cancer Risk of Female BRCA Mutation Carriers in the Netherlands.
    • Vos JR, Teixeira N, van der Kolk DM, Mourits MJ, Rookus MA, van Leeuwen FE, Collée M, van Asperen CJ, Mensenkamp AR, Ausems MG, van Os TA, Meijers-Heijboer HE, Gómez-Garcia EB, Vasen HF, Brohet RM; Hereditary Breast and Ovarian Cancer Research Group Netherlands, van der Hout AH, Jansen L, Oosterwijk JC, de Bock GH.
    • Cancer Epidemiol Biomarkers Prev. 2014 Nov;23(11):2482-91. doi: 10.1158/1055-9965.EPI-13-1279. Epub 2014 Aug 7.
    • Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
    • Castéra L, Krieger S, Rousselin A, Legros A, Baumann JJ, Bruet O, Brault B, Fouillet R, Goardon N, Letac O, Baert-Desurmont S, Tinat J, Bera O, Dugast C, Berthet P, Polycarpe F, Layet V, Hardouin A, Frébourg T, Vaur D.
    • Eur J Hum Genet. 2014 Nov;22(11):1305-13. doi: 10.1038/ejhg.2014.16. Epub 2014 Feb 19.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: RAD50 Positive Letter

    • Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population.
    • Felix GE, Abe-Sandes C, Machado-Lopes TM, Bomfim TF, Guindalini RS, Santos VC, Meyer L, Oliveira PC, Cláudio Neiva J, Meyer R, Romeo M, Betânia Toralles M, Nascimento I, Abe-Sandes K.
    • Hum Genome Var. 2014 Oct 16;1:14012. doi: 10.1038/hgv.2014.12. eCollection 2014.
    • Pedigree studies and evaluation of risk factors of breast cancer in Goa.
    • Fernandes NV, Pinto S, Dias P, Kolwalkar D, Chipkar T.
    • Indian J Cancer. 2014 Oct-Dec;51(4):600-3. doi: 10.4103/0019-509X.175300.
    • BRCA1/2 germline mutations and their clinical importance in Turkish breast cancer patients.
    • Cecener G, Egeli U, Tunca B, Erturk E, Ak S, Gokgoz S, Tasdelen I, Tezcan G, Demirdogen E, Bayram N, Avci N, Evrensel T.
    • Cancer Invest. 2014 Oct;32(8):375-87. doi: 10.3109/07357907.2014.919302. Epub 2014 Jun 2.
    • BRCA1/2 Mutation Status Is an Independent Factor of Improved Survival for Advanced (Stage III-IV) Ovarian Cancer.
    • Rudaitis V, Zvirblis T, Kanopiene D, Janulynaite D, Griskevicius L, Janavicius R.
    • Int J Gynecol Cancer. 2014 Oct;24(8):1395-400. doi: 10.1097/IGC.0000000000000247.
    • Breast cancer incidence rates among orthodox Jewish women.
    • Tkatch R, Schwartz K, Shore RD, Penner LA, Simon MS, Albrecht TL.
    • J Immigr Minor Health. 2014 Oct;16(5):1007-10. doi: 10.1007/s10903-013-9822-8.
    • Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2.
    • Gabai-Kapara E, Lahad A, Kaufman B, Friedman E, Segev S, Renbaum P, Beeri R, Gal M, Grinshpun-Cohen J, Djemal K, Mandell JB, Lee MK, Beller U, Catane R, King MC, Levy-Lahad E.
    • Proc Natl Acad Sci U S A. 2014 Sep 30;111(39):14205-10. doi: 10.1073/pnas.1415979111. Epub 2014 Sep 5.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: Population screening for BRCA1/2

    • Breast cancer in women younger than 30 years: prevalence rate and imaging findings in a symptomatic population.
    • Makanjuola D, Alkushi A, Alzaid M, Abukhair O, Al Tahan F, Alhadab A.
    • Pan Afr Med J. 2014 Sep 16;19:35. doi: 10.11604/pamj.2014.19.35.2849. eCollection 2014.
    • Risk of breast cancer and family history of other cancers in first-degree relatives in Chinese women: a case control study.
    • Zhou W, Ding Q, Pan H, Wu N, Liang M, Huang Y, Chen L, Zha X, Liu X, Wang S.
    • BMC Cancer. 2014 Sep 11;14:662. doi: 10.1186/1471-2407-14-662.
    • A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients.
    • Seong MW, Cho SI, Kim KH, Chung IY, Kang E, Lee JW, Park SK, Lee MH, Choi DH, Yom CK, Noh WC, Chang MC, Park SS, Kim SW; Korean Hereditary Breast Cancer Study Group.
    • BMC Cancer. 2014 Sep 1;14:645. doi: 10.1186/1471-2407-14-645.
    • The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.
    • Song H, Cicek MS, Dicks E, Harrington P, Ramus SJ, Cunningham JM, Fridley BL, Tyrer JP, Alsop J, Jimenez-Linan M, Gayther SA, Goode EL, Pharoah PD.
    • Hum Mol Genet. 2014 Sep 1;23(17):4703-9. doi: 10.1093/hmg/ddu172. Epub 2014 Apr 12.
    • [Gliomas and BRCA genes mutations: fortuitous association or imputability?].
    • Girardstein-Boccara L, Mari V, Met-Domestici M, Burel-Vandenbos F, Berthet P, Paquis P, Frenay MP, Lebrun-Frenay C.
    • Bull Cancer. 2014 Sep;101(9):795-802. doi: 10.1684/bdc.2014.1952.
    • Case report, [Article in French]
    • Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian cancer syndrome who share a common ancestry.
    • Gabaldó Barrios X, Sarabia Meseguer MD, Alonso Romero JL, Marín Vera M, Marín Zafra G, Sánchez Henarejos P, Sánchez Bermúdez AI, Ruiz Espejo F.
    • Fam Cancer. 2014 Sep;13(3):431-5. doi: 10.1007/s10689-014-9708-5.
    • Case report
    • BRCA1 point mutations in premenopausal breast cancer patients from Central Sudan.
    • Biunno I, Aceto G, Awadelkarim KD, Morgano A, Elhaj A, Eltayeb EA, Abuidris DO, Elwali NE, Spinelli C, De Blasio P, Rovida E, Mariani-Costantini R.
    • Fam Cancer. 2014 Sep;13(3):437-44. doi: 10.1007/s10689-014-9717-4.
    • Genetic/Familial high-risk assessment: breast and ovarian, version 1.2014.
    • Daly MB, Pilarski R, Axilbund JE, Buys SS, Crawford B, Friedman S, Garber JE, Horton C, Kaklamani V, Klein C, Kohlmann W, Kurian A, Litton J, Madlensky L, Marcom PK, Merajver SD, Offit K, Pal T, Pasche B, Reiser G, Shannon KM, Swisher E, Voian NC, Weitzel JN, Whelan A, Wiesner GL, Dwyer MA, Kumar R.
    • J Natl Compr Canc Netw. 2014 Sep;12(9):1326-38.
    • Practice Guideline, NCCN Guidelines
    • Prevalence of BRCA1 gene mutation in breast cancer patients in Guangxi, China.
    • Sun L, Liu J, Wang S, Chen Y, Li Z.
    • Int J Clin Exp Pathol. 2014 Aug 15;7(9):6262-9. eCollection 2014.
    • Absence of BRCA/FMR1 Correlations in Women with Ovarian Cancers.
    • Gleicher N, McAlpine JN, Gilks CB, Kushnir VA, Lee HJ, Wu YG, Lazzaroni-Tealdi E, Barad DH.
    • PLoS One. 2014 Jul 18;9(7):e102370. doi: 10.1371/journal.pone.0102370. eCollection 2014.
    • BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts.
    • Lucas AL, Frado LE, Hwang C, Kumar S, Khanna LG, Levinson EJ, Chabot JA, Chung WK, Frucht H.
    • Cancer. 2014 Jul 1;120(13):1960-7. doi: 10.1002/cncr.28662. Epub 2014 Apr 15.
    • Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.
    • Kurian AW, Hare EE, Mills MA, Kingham KE, McPherson L, Whittemore AS, McGuire V, Ladabaum U, Kobayashi Y, Lincoln SE, Cargill M, Ford JM.
    • J Clin Oncol. 2014 Jul 1;32(19):2001-9. doi: 10.1200/JCO.2013.53.6607. Epub 2014 Apr 14.

    Related:

    Comment, Editorial:

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

    Related:

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

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

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

    • A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients.
    • Seong MW, Kim KH, Chung IY, Kang E, Lee JW, Park SK, Lee MH, Lee JE, Noh DY, Son BH, Park HL, Cho SI, Park SS; Korean Hereditary Breast Cancer Study Group, Kim SW.
    • Breast Cancer Res Treat. 2014 Jul;146(1):63-9. doi: 10.1007/s10549-014-3006-7. Epub 2014 Jun 4.
    • Family history of cancer associated with breast tumor clinicopathological features.
    • Ricks LJ, Ewing A, Thompson N, Harrison B, Wilson B, Richardson F, Carter-Nolan P, Spencer C, Laiyemo A, Williams C.
    • J Community Genet. 2014 Jul;5(3):233-40. doi: 10.1007/s12687-013-0180-y. Epub 2014 Jan 15.
    • Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
    • Wang Y, McKay JD, Rafnar T, Wang Z, Timofeeva MN, Broderick P, Zong X, Laplana M, Wei Y, Han Y, Lloyd A, Delahaye-Sourdeix M, Chubb D, Gaborieau V, Wheeler W, Chatterjee N, Thorleifsson G, Sulem P, Liu G, Kaaks R, Henrion M, Kinnersley B, Vallée M, LeCalvez-Kelm F, Stevens VL, Gapstur SM, Chen WV, Zaridze D, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Mates D, Bencko V, Foretova L, Janout V, Krokan HE, Gabrielsen ME, Skorpen F, Vatten L, Njølstad I, Chen C, Goodman G, Benhamou S, Vooder T, Välk K, Nelis M, Metspalu A, Lener M, Lubiński J, Johansson M, Vineis P, Agudo A, Clavel-Chapelon F, Bueno-de-Mesquita HB, Trichopoulos D, Khaw KT, Johansson M, Weiderpass E, Tjønneland A, Riboli E, Lathrop M, Scelo G, Albanes D, Caporaso NE, Ye Y, Gu J, Wu X, Spitz MR, Dienemann H, Rosenberger A, Su L, Matakidou A, Eisen T, Stefansson K, Risch A, Chanock SJ, Christiani DC, Hung RJ, Brennan P, Landi MT, Houlston RS, Amos CI.
    • Nat Genet. 2014 Jul;46(7):736-41. doi: 10.1038/ng.3002. Epub 2014 Jun 1.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA2 increased risk for lung cancer?

    Subject: BRCA2 testing for lung cancer?

    News

    BRCA2 Mutation Linked to Lung Cancer Risk.

    Research News

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

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

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

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

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA and CHEK2

    Subject: Dbl heterzygote article

    • Analysis of novel mutations in BRCA1 in Iranian families with breast cancer.
    • Sadr-Nabavi A, Dastpak M, Homaei-Shandiz F, Bahrami AR, Bidkhori HR, Raeesolmohaddeseen M.
    • Hereditas. 2014 Jun;151(2-3):38-42. doi: 10.1111/hrd2.00040.
    • Familial breast cancer genetic testing in the West of Ireland.
    • McVeigh TP, Irwin R, Cody N, Miller N, McDevitt T, Sweeney KJ, Green A, Kerin MJ.
    • Ir J Med Sci. 2014 Jun;183(2):199-206. doi: 10.1007/s11845-013-0990-2. Epub 2013 Jul 26.
    • Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.
    • Silva FC, Lisboa BC, Figueiredo MC, Torrezan GT, Santos EM, Krepischi AC, Rossi BM, Achatz MI, Carraro DM.
    • BMC Med Genet. 2014 May 15;15:55. doi: 10.1186/1471-2350-15-55.
    • Role of BRCA1 and BRCA2 gene mutations in epithelial ovarian cancer in Indian population: a pilot study.
    • Sharma S, Rajaram S, Sharma T, Goel N, Agarwal S, Banerjee BD.
    • Int J Biochem Mol Biol. 2014 May 15;5(1):1-10. eCollection 2014.
    • High prevalence of GPRC5A germline mutations in BRCA1-mutant breast cancer patients.
    • Sokolenko AP, Bulanova DR, Iyevleva AG, Aleksakhina SN, Preobrazhenskaya EV, Ivantsov AO, Kuligina ESh, Mitiushkina NV, Suspitsin EN, Yanus GA, Zaitseva OA, Yatsuk OS, Togo AV, Kota P, Dixon JM, Larionov AA, Kuznetsov SG, Imyanitov EN.
    • Int J Cancer. 2014 May 15;134(10):2352-8. doi: 10.1002/ijc.28569. Epub 2014 Jan 27.
    • Comprehensive BRCA1 and BRCA2 mutational profile in Lithuania.
    • Janavičius R, Rudaitis V, Mickys U, Elsakov P, Griškevičius L.
    • Cancer Genet. 2014 May;207(5):195-205. doi: 10.1016/j.cancergen.2014.05.002. Epub 2014 May 10.
    • Genetic Susceptibility to Triple‐Negative Breast Cancers.
    • Michelle W Wong‐Brown, Rodney J Scott.
    • eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net ; 2014 May; doi: 10.1002/9780470015902.a0025352.
    • Risk factors for ovarian cancers with and without microsatellite instability.
    • Segev Y, Pal T, Rosen B, McLaughlin JR, Sellers TA, Risch HA, Zhang S, Sun P, Narod SA, Schildkraut J.
    • Int J Gynecol Cancer. 2014 May;24(4):664-9. doi: 10.1097/IGC.0000000000000134.
    • Next-generation sequencing of BRCA1 and BRCA2 in breast cancer patients and control subjects.
    • Balabanski L, Antov G, Dimova I, Ivanov S, Nacheva M, Gavrilov I, Nesheva D, Rukova B, Hadjidekova S, Malinov M, Toncheva D.
    • Mol Clin Oncol. 2014 May;2(3):435-439. Epub 2014 Feb 4.
    • Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from medellín, Colombia.
    • Hernández JE, Llacuachaqui M, Palacio GV, Figueroa JD, Madrid J, Lema M, Royer R, Li S, Larson G, Weitzel JN, Narod SA.
    • Hered Cancer Clin Pract. 2014 Apr 17;12(1):11. doi: 10.1186/1897-4287-12-11. eCollection 2014.
    • Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
    • Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.
    • PLoS One. 2014 Apr 11;9(4):e94554. doi: 10.1371/journal.pone.0094554. eCollection 2014.
    • Growing recognition of the role for rare missense substitutions in breast cancer susceptibility.
    • Tavtigian SV, Chenevix-Trench G.
    • Biomark Med. [2014 Apr;];8(4):589-603. doi: 10.2217/bmm.13.143.
    • Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history.
    • Kang PC, Phuah SY, Sivanandan K, Kang IN, Thirthagiri E, Liu JJ, Hassan N, Yoon SY, Thong MK, Hui M, Hartman M, Yip CH, Mohd Taib NA, Teo SH.
    • Breast Cancer Res Treat. 2014 Apr;144(3):635-42. doi: 10.1007/s10549-014-2894-x. Epub 2014 Mar 1.
    • Genetic anticipation of familial breast cancer with or without BRCA mutation in the Korean population.
    • Noh JM, Choi DH, Baek H, Kim MJ, Park H, Huh SJ, Park W, Nam SJ, Lee JE, Kil WH, Haffty BG.
    • Cancer Genet. 2014 Apr;207(4):160-3. doi: 10.1016/j.cancergen.2014.04.002. Epub 2014 Apr 12.
    • Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model.
    • Tarabeux J, Zeitouni B, Moncoutier V, Tenreiro H, Abidallah K, Lair S, Legoix-Né P, Leroy Q, Rouleau E, Golmard L, Barillot E, Stern MH, Rio-Frio T, Stoppa-Lyonnet D, Houdayer C.
    • Eur J Hum Genet. 2014 Apr;22(4):535-41. doi: 10.1038/ejhg.2013.181. Epub 2013 Aug 14.
    • BRCA sequencing and large rearrangement testing in young Black women with breast cancer.
    • Pal T, Bonner D, Cragun D, Johnson S, Akbari M, Servais L, Narod S, Vadaparampil S.
    • J Community Genet. 2014 Apr;5(2):157-65. doi: 10.1007/s12687-013-0166-9. Epub 2013 Aug 29.
    • Triple-negative breast cancer frequency and type of BRCA mutation: Clues from Sardinia.
    • Palomba G, Budroni M, Olmeo N, Atzori F, Ionta MT, Pisano M, Tanda F, Cossu A, Palmieri G.
    • Oncol Lett. 2014 Apr;7(4):948-952. Epub 2014 Jan 28.
    • Polymorphisms in phase I and phase II genes and breast cancer risk and relations to persistent organic pollutant exposure: a case-control study in Inuit women.
    • Ghisari M, Eiberg H, Long M, Bonefeld-Jørgensen EC.
    • Environ Health. 2014 Mar 16;13(1):19. doi: 10.1186/1476-069X-13-19.
    • [Genotyping of BRCA1, BRCA2 and CHEK2 germline mutations in Russian breast cancer patients using diagnostic biochips].
    • [No authors listed]
    • Mol Biol (Mosk). 2014 Mar-Apr;48(2):243-50.
    • [Article in Russian]
    • BRCA1 gene-related hereditary susceptibility to breast and ovarian cancer in Latvia.
    • Tihomirova L, Vaivade I, Fokina O, Peculis R, Mandrika I, Sinicka O, Stengrevics A, Krilova A, Keire G, Petrevics J, Eglitis J, Timofejevs M, Leja M.
    • Adv Med Sci. 2014 Mar;59(1):114-9. doi: 10.1016/j.advms.2013.09.002. Epub 2014 Mar 20.
    • A collaborative study of the etiology of breast cancer subtypes in African American women: the AMBER consortium.
    • Palmer JR, Ambrosone CB, Olshan AF.
    • Cancer Causes Control. 2014 Mar;25(3):309-19. doi: 10.1007/s10552-013-0332-8. Epub 2013 Dec 17.
    • Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC).
    • Andrés R, Pajares I, Balmaña J, Llort G, Ramón Y Cajal T, Chirivella I, Aguirre E, Robles L, Lastra E, Pérez-Segura P, Bosch N, Yagüe C, Lerma E, Godino J, Miramar MD, Moros M, Astier P, Saez B, Vidal MJ, Arcusa A, Ramón Y Cajal S, Calvo MT, Tres A.
    • Clin Transl Oncol. 2014 Mar;16(3):280-4. doi: 10.1007/s12094-013-1070-9. Epub 2013 Aug 27.
    • Prevalence and impact of founder mutations in hereditary breast cancer in Latin America.
    • Ashton-Prolla P, Vargas FR.
    • Genet Mol Biol. 2014 Mar;37(1 Suppl):234-40.
    • Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.
    • Cunningham JM, Cicek MS, Larson NB, Davila J, Wang C, Larson MC, Song H, Dicks EM, Harrington P, Wick M, Winterhoff BJ, Hamidi H, Konecny GE, Chien J, Bibikova M, Fan JB, Kalli KR, Lindor NM, Fridley BL, Pharoah PP, Goode EL.
    • Sci Rep. 2014 Feb 7;4:4026. doi: 10.1038/srep04026.
    • Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.
    • Caleca L, Putignano AL, Colombo M, Congregati C, Sarkar M, Magliery TJ, Ripamonti CB, Foglia C, Peissel B, Zaffaroni D, Manoukian S, Tondini C, Barile M, Pensotti V, Bernard L, Papi L, Radice P.
    • PLoS One. 2014 Feb 6;9(2):e86924. doi: 10.1371/journal.pone.0086924. eCollection 2014.
    • Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.
    • Pennington KP, Walsh T, Harrell MI, Lee MK, Pennil CC, Rendi MH, Thornton A, Norquist BM, Casadei S, Nord AS, Agnew KJ, Pritchard CC, Scroggins S, Garcia RL, King MC, Swisher EM.
    • Clin Cancer Res. 2014 Feb 1;20(3):764-75. doi: 10.1158/1078-0432.CCR-13-2287. Epub 2013 Nov 15.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: PALB2 and Ovarian Cancer

    Comment, Letter

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

    Reply, Letter

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

    • Detection of new point mutations of BRCA1 and BRCA2 in breast cancer patients.
    • Bensam M, Hafez E, Awad D, El-Saadani M, Balbaa M.
    • Biochem Genet. 2014 Feb;52(1-2):15-28. doi: 10.1007/s10528-013-9623-8. Epub 2013 Jul 23.
    • Preliminary monocentric results of biological characteristics of pregnancy associated breast cancer.
    • Michieletto S, Saibene T, Evangelista L, Barbazza F, Grigoletto R, Rossi G, Ghiotto C, Bozza F.
    • Breast. 2014 Feb;23(1):19-25. doi: 10.1016/j.breast.2013.10.001. Epub 2013 Nov 1.
    • Minor role of BRCA2 mutation (Exon2 and Exon11) in patients with early-onset breast cancer amongst Iranian Azeri-Turkish women.
    • Karimian Fathi N, Shekari Khaniani M, Montazeri V, Mansoori Derakhshan S.
    • Iran J Basic Med Sci. 2014 Feb;17(2):108-11.
    • Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations.
    • Brohet RM, Velthuizen ME, Hogervorst FB, Ej Meijers-Heijboer H, Seynaeve C, Collée MJ, Verhoef S, Ausems MG, Hoogerbrugge N, van Asperen CJ, Gómez García E, Menko F, Oosterwijk JC, Devilee P, Veer LJ, van Leeuwen FE, Easton DF, Rookus MA, Antoniou AC; HEBON Resource.
    • J Med Genet. 2014 Feb;51(2):98-107. doi: 10.1136/jmedgenet-2013-101974. Epub 2013 Nov 27.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA1 Positive Patients and Oral Contraceptive Usage

    • Mutational analysis of the BRCA2 gene in breast carcinoma patients of Kashmiri descent.
    • Ayub SG, Rasool S, Ayub T, Khan SN, Wani KA, Andrabi KI.
    • Mol Med Rep. 2014 Feb;9(2):749-53. doi: 10.3892/mmr.2013.1862. Epub 2013 Dec 13.
    • Risk assessment of multistate progression of breast tumor with state-dependent genetic and environmental covariates.
    • Wu YY, Yen MF, Yu CP, Chen HH.
    • Risk Anal. 2014 Feb;34(2):367-79. doi: 10.1111/risa.12116. Epub 2013 Sep 23.
    • Specific BRCA1 gene variations amongst young Moroccan breast cancer patients.
    • Tazzite A, Nadiffi S, Kottwitz D, El Amrani M, Jouhadi H, Benider A, Moumen A, Sefrioui H.
    • Genet Mol Res. 2014 Jan 31;13(1):791-8. doi: 10.4238/2014.January.31.5.
    • Integrated analysis of germline and somatic variants in ovarian cancer.
    • Kanchi KL, Johnson KJ, Lu C, McLellan MD, Leiserson MD, Wendl MC, Zhang Q, Koboldt DC, Xie M, Kandoth C, McMichael JF, Wyczalkowski MA, Larson DE, Schmidt HK, Miller CA, Fulton RS, Spellman PT, Mardis ER, Druley TE, Graubert TA, Goodfellow PJ, Raphael BJ, Wilson RK, Ding L.
    • Nat Commun. 2014 Jan 22;5:3156. doi: 10.1038/ncomms4156.
    • Triple-negative breast carcinoma in African American and Caucasian women: clinicopathology, immunomarkers, and outcome.
    • Sullivan HC, Oprea-Ilies G, Adams AL, Page AJ, Kim S, Wang J, Cohen C.
    • Appl Immunohistochem Mol Morphol. 2014 Jan;22(1):17-23. doi: 10.1097/PAI.0b013e318281148e.
    • Screening for BRCA1 and BRCA2 mutations among French-Canadian breast cancer cases attending an outpatient clinic in Montreal.
    • Ghadirian P, Robidoux A, Nassif E, Martin G, Potvin C, Patocskai E, Younan R, Larouche N, Venne A, Zhang S, Royer R, Narod S.
    • Clin Genet. 2014 Jan;85(1):31-5. doi: 10.1111/cge.12174. Epub 2013 Jun 5.
    • High prevalence of BRCA1 founder mutations in Greek breast/ovarian families.
    • Konstantopoulou I, Tsitlaidou M, Fostira F, Pertesi M, Stavropoulou AV, Triantafyllidou O, Tsotra E, Tsiftsoglou A, Tsionou C, Droufakou S, Dimitrakakis C, Fountzilas G, Yannoukakos D.
    • Clin Genet. 2014 Jan;85(1):36-42. doi: 10.1111/cge.12274. Epub 2013 Oct 20.
    • Geographical distribution of Slovenian BRCA1/2 families according to family origin: implications for genetic screening.
    • Krajc M, Zadnik V, Novaković S, Stegel V, Teugels E, Bešič N, Hočevar M, Vakselj A, De Grève J, Zgajnar J.
    • Clin Genet. 2014 Jan;85(1):59-63. doi: 10.1111/cge.12119. Epub 2013 Mar 11.
    • The spectrum of BRCA1 and BRCA2 mutations in breast cancer patients in the Bahamas.
    • Akbari M, Donenberg T, Lunn J, Curling D, Turnquest T, Krill-Jackson E, Zhang S, Narod S, Hurley J.
    • Clin Genet. 2014 Jan;85(1):64-7. doi: 10.1111/cge.12132. Epub 2013 Apr 5.
    • Rates of risk-reducing surgery in Israeli BRCA1 and BRCA2 mutation carriers.
    • Laitman Y, Vaisman Y, Feldman D, Helpman L, Gitly M, Paluch Shimon S, Berger R, Cohen L, Narod S, Friedman E.
    • Clin Genet. 2014 Jan;85(1):68-71. doi: 10.1111/cge.12149. Epub 2013 Apr 9.
    • Prognostic role of BRCA1 mutation in patients with triple-negative breast cancer.
    • Maksimenko J, Irmejs A, Nakazawa-Miklasevica M, Melbarde-Gorkusa I, Trofimovics G, Gardovskis J, Miklasevics E.
    • Oncol Lett. 2014 Jan;7(1):278-284. Epub 2013 Nov 14.
    • BRCA1 gene exon 11 mutations in Uighur and Han women with early-onset sporadic breast cancer in the northwest region of China.
    • Cao YW, Fu XG, Wan GX, Yu SY, Cui XB, Li L, Jiang JF, Zheng YQ, Zhang WJ, Li F.
    • Asian Pac J Cancer Prev. 2014;15(11):4513-8.
    • Family history attributes and risk factors for breast cancer in Turkey.
    • Gokdemir-Yazar O, Yaprak S, Colak M, Yildirim E, Guldal D.
    • Asian Pac J Cancer Prev. 2014;15(6):2841-6.
    • Mapping Jewish Identities: Migratory Histories and the Transnational Re-Framing of ‘Ashkenazi BRCA Mutations’ in the UK and Brazil.
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    • In: Breast Cancer Gene Research and Medical Practices: Transnational Perspectives in the Time of BRCA. Oxon (UK): Routledge; 2014. Gibbon S, Joseph G, Mozersky J, zur Nieden A, Palfner S, editors. Wellcome Trust–Funded Monographs and Book Chapters.
    • A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype.
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    • Case Rep Genet. 2014;2014:875029. doi: 10.1155/2014/875029. Epub 2014 Feb 10.
    • [Ethnic aspects of hereditary breast cancer in the region of Siberia].
    • Cherdyntseva NV, Pisareva LF, Ivanova AA, Panferova YV, Malinovskaya EA, Odintsova IN, Doroshenko AV, Gervas PA, Slonimskaya EM, Shivit-ool AA, Dvornichenko VV, Choinzonov YL.
    • Vestn Ross Akad Med Nauk. 2014;(11-12):72-9.
    • [Article in Russian]
    • Dietary intake and breast cancer among carriers and noncarriers of BRCA mutations in the Korean Hereditary Breast Cancer Study.
    • Ko KP, Kim SW, Ma SH, Park B, Ahn Y, Lee JW, Lee MH, Kang E, Kim LS, Jung Y, Cho YU, Lee B, Lin JH, Park SK.
    • Am J Clin Nutr. 2013 Dec;98(6):1493-501. doi: 10.3945/ajcn.112.057760. Epub 2013 Oct 23.
    • Performance of BOADICEA and BRCAPRO genetic models and of empirical criteria based on cancer family history for predicting BRCA mutation carrier probabilities: A retrospective study in a sample of Italian cancer genetics clinics.
    • Varesco L, Viassolo V, Viel A, Gismondi V, Radice P, Montagna M, Alducci E, Della Puppa L, Oliani C, Tommasi S, Caligo MA, Vivanet C, Zuradelli M, Mandich P, Tibiletti MG, Cavalli P, Lucci Cordisco E, Turchetti D, Boggiani D, Bracci R, Bruzzi P, Bonelli L.
    • Breast. 2013 Dec;22(6):1130-5. doi: 10.1016/j.breast.2013.07.053. Epub 2013 Sep 5.
    • Detection of a novel mutation in exon 20 of the BRCA1 gene.
    • Chakraborty A, Katarkar A, Chaudhuri K, Mukhopadhyay A, Basak J.
    • Cell Mol Biol Lett. 2013 Dec;18(4):631-8. doi: 10.2478/s11658-013-0110-3. Epub 2013 Dec 2.
    • Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.
    • de Juan Jiménez I, García Casado Z, Palanca Suela S, Esteban Cardeñosa E, López Guerrero JA, Segura Huerta A, Chirivella González I, Sánchez Heras AB, Juan Fita MJ, Tena García I, Guillen Ponce C, Martínez de Dueñas E, Romero Noguera I, Salas Trejo D, Goicoechea Sáez M, Bolufer Gilabert P.
    • Fam Cancer. 2013 Dec;12(4):767-77. doi: 10.1007/s10689-013-9622-2.
    • Breast cancer risk prediction accuracy in Jewish Israeli high-risk women using the BOADICEA and IBIS risk models.
    • Laitman Y, Simeonov M, Keinan-Boker L, Liphshitz I, Friedman E.
    • Genet Res (Camb). 2013 Dec;95(6):174-7. doi: 10.1017/S0016672313000232. Epub 2014 Feb 10.
    • Distribution of BRCA1 and BRCA2 Mutations in Asian Patients with Breast Cancer.
    • Kim H, Choi DH.
    • J Breast Cancer. 2013 Dec;16(4):357-65. doi: 10.4048/jbc.2013.16.4.357. Epub 2013 Dec 31.
    • Ask Well: Genetic Testing for Breast Cancer.
    • Roni Caryn Rabin.
    • New York Times. Ask Well. 2013 Nov 27.
    • Introduction to epidemiology of breast and ovarian cancers.
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    • Ann Oncol. 2013 Nov;24 Suppl 8:viii61-viii62. doi: 10.1093/annonc/mdt317.
    • BRCA mutations and outcome in epithelial ovarian cancer (EOC): experience in ethnically diverse groups.
    • Safra T, Lai WC, Borgato L, Nicoletto MO, Berman T, Reich E, Alvear M, Haviv I, Muggia FM.
    • Ann Oncol. 2013 Nov;24 Suppl 8:viii63-viii68. doi: 10.1093/annonc/mdt315.
    • The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.
    • Infante M, Durán M, Acedo A, Sánchez-Tapia EM, Díez-Gómez B, Barroso A, García-González M, Feliubadaló L, Lasa A, de la Hoya M, Esteban-Cardeñosa E, Díez O, Martínez-Bouzas C, Godino J, Teulé A, Osorio A, Lastra E, González-Sarmiento R, Miner C, Velasco EA.
    • Carcinogenesis. 2013 Nov;34(11):2505-11. doi: 10.1093/carcin/bgt272. Epub 2013 Aug 8.
    • Prevalence of BRCA mutations among women with triple-negative breast cancer (TNBC) in a genetic counseling cohort.
    • Greenup R, Buchanan A, Lorizio W, Rhoads K, Chan S, Leedom T, King R, McLennan J, Crawford B, Kelly Marcom P, Shelley Hwang E.
    • Ann Surg Oncol. 2013 Oct;20(10):3254-8. doi: 10.1245/s10434-013-3205-1. Epub 2013 Aug 22.
    • Germline mutations in dna repair genes in women with ovarian, peritoneal, or fallopian tube cancer treated on GOG protocol 218.
    • Norquist B, Harrell M, Walsh T, Lee MK, King MC, Swisher EM, Birrer MJ.
    • Gynecologic Oncology. 2013 Oct;131(1):259. doi: 10.1016/j.ygyno.2013.07.032.
    • Conference abstract
    • Hereditary breast cancer: ever more pieces to the polygenic puzzle.
    • Bogdanova N, Helbig S, Dörk T.
    • Hered Cancer Clin Pract. 2013 Sep 11;11(1):12. doi: 10.1186/1897-4287-11-12.
    • Validation, calibration and refitting of a familial breast cancer model in sisterships: a case study in the Swedish sisters data.
    • van Houwelingen HC, Rebora P, Reilly M.
    • Stat Med. 2013 Sep 10;32(20):3486-500. doi: 10.1002/sim.5781. Epub 2013 Mar 18.
    • Frequency of 5382insC mutation of BRCA1 gene among breast cancer patients: an experience from Eastern India.
    • Chakraborty A, Mukhopadhyay A, Bhattacharyya D, Bose CK, Choudhuri K, Mukhopadhyay S, Basak J.
    • Fam Cancer. 2013 Sep;12(3):489-95. doi: 10.1007/s10689-012-9590-y.
    • The korean hereditary breast cancer study: review and future perspectives.
    • Kang E, Kim SW.
    • J Breast Cancer. 2013 Sep;16(3):245-53. doi: 10.4048/jbc.2013.16.3.245. Epub 2013 Sep 30.
    • Functional analysis of BRCA1 missense variants of uncertain significance in Japanese breast cancer families.
    • Kawaku S, Sato R, Song H, Bando Y, Arinami T, Noguchi E.
    • J Hum Genet. 2013 Sep;58(9):618-21. doi: 10.1038/jhg.2013.71. Epub 2013 Jul 11.
    • Breast cancer in Arab populations: molecular characteristics and disease management implications.
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    • Lancet Oncol. 2013 Sep;14(10):e417-24. doi: 10.1016/S1470-2045(13)70165-7.
    • Review

    Related:

    Letter, Comment:

    Perspectives on breast cancer in Arab populations.

    • Hereditary breast and ovarian cancer susceptibility genes (Review).
    • Kobayashi H, Ohno S, Sasaki Y, Matsuura M.
    • Oncol Rep. 2013 Sep;30(3):1019-29. doi: 10.3892/or.2013.2541. Epub 2013 Jun 19.
    • Prognosis of probability of BRCA1 and BRCA2 mutations carriage in women with compromised family history of breast and/or ovarian cancer.
    • Rybchenko LA, Bychkova AM, Skyban GV, Klymenko SV.
    • Probl Radiac Med Radiobiol. 2013 Sep;18:253-260.
    • A comparison of the detection of BRCA mutation carriers through the provision of Jewish population-based genetic testing compared with clinic-based genetic testing.
    • Metcalfe KA, Poll A, Royer R, Nanda S, Llacuachaqui M, Sun P, Narod SA.
    • Br J Cancer. 2013 Aug 6;109(3):777-9. doi: 10.1038/bjc.2013.309. Epub 2013 Jun 18.
    • BRCA1 gene mutations frequency estimation by allele-specific real-time PCR of pooled genomic DNA samples.
    • Anisimenko MS, Mitrofanov DV, Chasovnikova OB, Voevoda MI, Kovalenko SP.
    • Breast. 2013 Aug;22(4):532-6. doi: 10.1016/j.breast.2012.12.007. Epub 2013 Feb 1.
    • Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests.
    • Pujol P, Lyonnet DS, Frebourg T, Blin J, Picot MC, Lasset C, Dugast C, Berthet P, de Paillerets BB, Sobol H, Grandjouan S, Soubrier F, Buecher B, Guimbaud R, Lidereau R, Jonveaux P, Houdayer C, Giraud S, Olschwang S, Nogue E, Galibert V, Bara C, Nowak F, Khayat D, Nogues C.
    • Breast Cancer Res Treat. 2013 Aug;141(1):135-44. doi: 10.1007/s10549-013-2669-9. Epub 2013 Aug 24.
    • The complex genetic landscape of familial breast cancer.
    • Melchor L, Benítez J.
    • Hum Genet. 2013 Aug;132(8):845-63. doi: 10.1007/s00439-013-1299-y. Epub 2013 Apr 5.
    • Review
    • Serbian high-risk families: extensive results on BRCA mutation spectra and frequency.
    • Dobričić J, Krivokuća A, Brotto K, Mališić E, Radulović S, Branković-Magić M.
    • J Hum Genet. 2013 Aug;58(8):501-7. doi: 10.1038/jhg.2013.30. Epub 2013 May 2.
    • Clinicians' Attitudes toward General Screening of the Ashkenazi-Jewish Population for Prevalent Founder BRCA1/2 and LRRK2 Mutations.
    • Shkedi-Rafid S, Ofer-Bialer G, Meiner V, Calderon-Margalit R.
    • Public Health Genomics. [2013 Aug;];16(4):174-83. doi: 10.1159/000351592. Epub 2013 Jun 28.
    • High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions.
    • Lucas AL, Shakya R, Lipsyc MD, Mitchel EB, Kumar S, Hwang C, Deng L, Devoe C, Chabot JA, Szabolcs M, Ludwig T, Chung WK, Frucht H.
    • Clin Cancer Res. 2013 Jul 1;19(13):3396-403. doi: 10.1158/1078-0432.CCR-12-3020. Epub 2013 May 8.

    Related:

    Research news:

    Delineating the effects BRCA1 and BRCA2 loss of heterozygosity in pancreatic cancer progression.

    • Analysis of several BRCA1 and BRCA2 mutations in a hospital-based series of unselected breast cancer cases.
    • Burcoş T, Cimponeriu D, Ion DA, Spandole S, Apostol P, Toma M, Radu I, Popa I, Stanilescu S, Popa E.
    • Chirurgia (Bucur). 2013 Jul-Aug;108(4):468-72.
    • BRCA1 gene Molecular Alterations in Omani Breast Cancer Patients.
    • Al-Moundhri MS, Al-Ansari A, Al-Mawali K, Al-Bahrani B.
    • Gulf J Oncolog. 2013 Jul;1(14):45-51.
    • Implementation of a breast cancer genetic service in South Africa - lessons learned.
    • Schoeman M, Apffelstaedt JP, Baatjes K, Urban M.
    • S Afr Med J. 2013 Jun 25;103(8):529-33. doi: 10.7196/samj.6814.
    • BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families.
    • Berzina D, Nakazawa-Miklasevica M, Zestkova J, Aksenoka K, Irmejs A, Gardovskis A, Kalniete D, Gardovskis J, Miklasevics E.
    • BMC Med Genet. 2013 Jun 14;14:61. doi: 10.1186/1471-2350-14-61.
    • Breast Cancer Gene Mutations More Common in Black Women.
    • Johnson K.
    • Medscape Medical News. Conference News. 2013 Jun 6.
    • Genetic breast cancer risk among black populations.
    • Philippa Brice.
    • PHG Foundation. 2013 Jun 4.
    • Mutations in susceptibility genes common in younger African American women with breast cancer.
    • John Easton.
    • EurekAlert!. 2013 Jun 3.
    • Breast cancer genes: beyond BRCA1 and BRCA2.
    • Filippini SE, Vega A.
    • Front Biosci (Landmark Ed). 2013 Jun 1;18:1358-72.
    • Evidence for predictive role of BRCA1 and bTUBIII in gastric cancer.
    • Moiseyenko VM, Volkov NM, Suspistin EN, Yanus GA, Iyevleva AG, Kuligina ESh, Togo AV, Kornilov AV, Ivantsov AO, Imyanitov EN.
    • Med Oncol. 2013 Jun;30(2):545. doi: 10.1007/s12032-013-0545-4. Epub 2013 Mar 27.
    • BRCA1 and BRCA2 Gene Mutations Screening In Sporadic Breast Cancer Patients In Kazakhstan.
    • Akilzhanova AR, Nyshanbekkyzy B, Nurkina ZM, Shtephanov II, Makishev AK, Adylkhanov TA, Rakhypbekov TK, Ramanculov EM, Momynaliev KT.
    • Cent Asian J Glob Health. 2013 May 21;2(1):29. doi: 10.5195/cajgh.2013.29. eCollection 2013.

    Related:

    Editorial:

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

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

    Related:

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

    • Comprehensive Analysis of BRCA1, BRCA2 and TP53 Germline Mutation and Tumor Characterization: A Portrait of Early-Onset Breast Cancer in Brazil.
    • Carraro DM, Koike Folgueira MA, Garcia Lisboa BC, Ribeiro Olivieri EH, Vitorino Krepischi AC, de Carvalho AF, de Carvalho Mota LD, Puga RD, do Socorro Maciel M, Michelli RA, de Lyra EC, Grosso SH, Soares FA, de Souza Waddington Achatz MI, Brentani H, Moreira-Filho CA, Brentani MM.
    • PLoS One. 2013;8(3):e57581. doi: 10.1371/journal.pone.0057581. Epub 2013 Mar 1.
    • Synchronous ovarian dysgerminoma and breast carcinoma in a patient with positive immunostain of BRCA1.
    • Băltătescu GI, Așchie M, Sârbu V.
    • Chirurgia (Bucur). 2013 Mar-Apr;108(2):259-63.
    • Early Onset Breast Cancer in a Registry-based Sample of African-American Women: BRCA Mutation Prevalence, and Other Personal and System-level Clinical Characteristics.
    • Pal T, Bonner D, Kim J, Monteiro AN, Kessler L, Royer R, Narod SA, Vadaparampil ST.
    • Breast J. 2013 Mar;19(2):189-92. doi: 10.1111/tbj.12083. Epub 2013 Jan 16.

    Related:

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

    • Haplotype analysis and ancient origin of the BRCA1 c.4035delA Baltic founder mutation.
    • Janavičius R, Rudaitis V, Feng BJ, Ozolina S, Griškevičius L, Goldgar D, Tihomirova L.
    • Eur J Med Genet. 2013 Mar;56(3):125-30. doi: 10.1016/j.ejmg.2012.12.007. Epub 2012 Dec 27.
    • The prevalence of BRCA mutations among familial breast cancer patients in Korea: results of the Korean Hereditary Breast Cancer study.
    • Han SA, Kim SW, Kang E, Park SK, Ahn SH, Lee MH, Nam SJ, Han W, Bae YT, Kim HA, Cho YU, Chang MC, Paik NS, Hwang KT, Kim SJ, Noh DY, Choi DH, Noh WC, Kim LS, Kim KS, Suh YJ, Lee JE, Jung Y, Moon BI, Yang JH, Son BH, Yom CK, Kim SY, Lee H, Jung SH; KOHBRA Research Group and the Korean Breast Cancer Society.
    • Fam Cancer. 2013 Mar;12(1):75-81. doi: 10.1007/s10689-012-9578-7.
    • An unusual BRCA mutation distribution in a high risk cancer genetics clinic.
    • Nelson-Moseke AC, Jeter JM, Cui H, Roe DJ, Chambers SK, Laukaitis CM.
    • Fam Cancer. 2013 Mar;12(1):83-7. doi: 10.1007/s10689-012-9581-z.
    • Prevalence of BRCA1 and BRCA2 Germline Mutations in Breast Cancer Women of Multiple Ethnic Region in Northwest China.
    • Ou J, Wu T, Sijmons R, Ni D, Xu W, Upur H.
    • J Breast Cancer. 2013 Mar;16(1):50-4. doi: 10.4048/jbc.2013.16.1.50. Epub 2013 Mar 31.
    • BRCA1 and BRCA2 mutations in the ovarian cancer population across race and ethnicity: special reference to Asia.
    • Shanmughapriya S, Nachiappan V, Natarajaseenivasan K.
    • Oncology. [2013 Mar;]84(4):226-32. doi: 10.1159/000346593. Epub 2013 Jan 29.
    • Review
    • BRCA1 germ-line mutations and tumor characteristics in eastern Chinese women with familial breast cancer.
    • Cao W, Wang X, Gao Y, Yang H, Li JC.
    • Anat Rec (Hoboken). 2013 Feb;296(2):273-8. doi: 10.1002/ar.22628. Epub 2012 Nov 23.
    • Recalibration of the Gail model for predicting invasive breast cancer risk in Spanish women: a population-based cohort study.
    • Pastor-Barriuso R, Ascunce N, Ederra M, Erdozáin N, Murillo A, Alés-Martínez JE, Pollán M.
    • Breast Cancer Res Treat. 2013 Feb;138(1):249-59. doi: 10.1007/s10549-013-2428-y. Epub 2013 Feb 3.
    • Genetics of Susceptibility to Sporadic Ovarian Cancer.
    • Katabathina VS, Prasad SR.
    • eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net. doi: 10.1002/9780470015902.a0023853. 2013 Feb.
    • Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations.
    • Laitman Y, Feng BJ, Zamir IM, Weitzel JN, Duncan P, Port D, Thirthagiri E, Teo SH, Evans G, Latif A, Newman WG, Gershoni-Baruch R, Zidan J, Shimon-Paluch S, Goldgar D, Friedman E.
    • Eur J Hum Genet. 2013 Feb;21(2):212-6. doi: 10.1038/ejhg.2012.124. Epub 2012 Jul 4.
    • Familial prostate cancer: the damage done and lessons learnt.
    • Taherian N, Hamel N, Bégin LR, Bismar TA, Goldgar DE, Feng BJ, Foulkes WD.
    • Nat Rev Urol. 2013 Feb;10(2):116-22. doi: 10.1038/nrurol.2012.257. Epub 2013 Jan 15.
    • Prevalence and Type of BRCA Mutations in Hispanics Undergoing Genetic Cancer Risk Assessment in the Southwestern United States: A Report From the Clinical Cancer Genetics Community Research Network.
    • Weitzel JN, Clague J, Martir-Negron A, Ogaz R, Herzog J, Ricker C, Jungbluth C, Cina C, Duncan P, Unzeitig G, Saldivar JS, Beattie M, Feldman N, Sand S, Port D, Barragan DI, John EM, Neuhausen SL, Larson GP.
    • J Clin Oncol. 2013 Jan 10;31(2):210-6. doi: 10.1200/JCO.2011.41.0027. Epub 2012 Dec 10.
    • Genotype in BRCA-associated Breast Cancers.
    • Meric-Bernstam F, Gutierrez-Barrera AM, Litton J, Mellor-Crummey L, Ready K, Gonzalez-Angulo AM, Lu KH, Hortobagyi GN, Arun BK.
    • Breast J. 2013 Jan;19(1):87-91. doi: 10.1111/tbj.12056. Epub 2012 Dec 10.
    • Genetic susceptibility Loci for subtypes of breast cancer in an african american population.
    • Palmer JR, Ruiz-Narvaez EA, Rotimi CN, Cupples LA, Cozier YC, Adams-Campbell LL, Rosenberg L.
    • Cancer Epidemiol Biomarkers Prev. 2013 Jan;22(1):127-34. doi: 10.1158/1055-9965.EPI-12-0769. Epub 2012 Nov 7.
    • Age-specific incidence rates for breast cancer in carriers of BRCA1 mutations from Norway.
    • Møller P, Maehle L, Vabø A, Clark N, Sun P, Narod S.
    • Clin Genet. 2013 Jan;83(1):88-91. doi: 10.1111/j.1399-0004.2012.01855.x. Epub 2012 Mar 1.
    • Identification of germline BRCA1 mutations among breast cancer families in Northeastern Iran.
    • Kooshyar MM, Nassiri M, Mahdavi M, Doosti M, Parizadeh A.
    • Asian Pac J Cancer Prev. 2013;14(7):4339-45.
    • Identification of a novel BRCA2 and CHEK2 A-C-G-C haplotype in Turkish patients affected with breast cancer.
    • Haytural H, Yalcinkaya N, Akan G, Arikan S, Ozkok E, Cakmakoglu B, Yaylim I, Aydin M, Atalar F.
    • Asian Pac J Cancer Prev. 2013;14(5):3229-35.
    • Compliance with screening recommendations according to breast cancer risk levels in Izmir, Turkey.
    • Acikgoz A, Ergor G.
    • Asian Pac J Cancer Prev. 2013;14(3):1737-42.
    • Hereditary breast cancer: the era of new susceptibility genes.
    • Apostolou P, Fostira F.
    • Biomed Res Int. 2013;2013:747318. doi: 10.1155/2013/747318. Epub 2013 Mar 21.
    • A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.
    • Karami F, Mehdipour P.
    • Biomed Res Int. 2013;2013:928562. doi: 10.1155/2013/928562. Epub 2013 Nov 7.
    • Prevalence of the BRCA1 c.68_69delAG (BIC: 185delAG) mutation in women with breast cancer from north-central Poland and a review of the literature on other regions of the country.
    • Hartwig M, Janiszewska H, Bąk A, Pilarska M, Heise M, Junkiert-Czarnecka A, Laskowski R, Haus O.
    • Contemp Oncol (Pozn). 2013;17(1):34-7. doi: 10.5114/wo.2013.33767. Epub 2013 Mar 15.
    • Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population.
    • Laraqui A, Uhrhammer N, Lahlou-Amine I, El Rhaffouli H, El Baghdadi J, Dehayni M, Moussaoui RD, Ichou M, Sbitti Y, Al Bouzidi A, Amzazi S, Bignon YJ.
    • Int J Med Sci. 2013;10(1):60-7. doi: 10.7150/ijms.5014. Epub 2012 Dec 10.
    • Inherited mutations in breast cancer genes in African American breast cancer patients revealed by targeted genomic capture and next-generation sequencing.
    • Jane E. Churpek, Tom Walsh, Yonglan Zheng, Silvia Casadei, Anne M. Thornton, Ming K. Lee, Matthew Churpek, Dezheng Huo, Cecilia Zvosec, Fang Liu, Qun Niu, Jing Zhang, James Fackenthal, Mary-Claire King, Olufunmilayo I. Olopade.
    • J Clin Oncol. 2013;31(Suppl): abstr CRA1501. 2013 ASCO Annual Meeting.
    • Conference abstract
    • Hereditary breast cancer in the Han Chinese population.
    • Cao W, Wang X, Li JC.
    • J Epidemiol. 2013;23(2):75-84. Epub 2013 Jan 12.
    • Frequency of Triple-Negative Breast Cancer in BRCA1 Mutation Carriers: Comparison Between Common Ashkenazi Jewish and Other Mutations.
    • Tung N, Garber JE, Lincoln A, Domchek SM.
    • J Clin Oncol. 2012 Dec 10;30(35):4447-8. doi: 10.1200/JCO.2012.44.5635. Epub 2012 Oct 22.

    Related:

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

    • Genetic variation of the brca1 and brca2 genes in macedonian patients.
    • Maleva I, Madjunkova S, Bozhinovski G, Smickova E, Kondov G, Spiroski Z, Arsovski A, Plaseska-Karanfilska D.
    • Balkan J Med Genet. 2012 Dec;15(Suppl):81-5. doi: 10.2478/v10034-012-0025-8.
    • Identification of a novel in-frame deletion in BRCA2 and analysis of variants of BRCA1/2 in Italian patients affected with hereditary breast and ovarian cancer.
    • Vietri MT, Molinari AM, Laura De Paola M, Cantile F, Fasano M, Cioffi M.
    • Clin Chem Lab Med. 2012 Dec;50(12):2171-80.
    • Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan.
    • Ahmad J, Le Calvez-Kelm F, Daud S, Voegele C, Vallée M, Ahmad A, Kakar N, McKay J, Gaborieau V, Léoné M, Sinilnikova O, Sangrajrang S, Tavtigian S, Lesueur F.
    • Clin Genet. 2012 Dec;82(6):594-598. doi: 10.1111/j.1399-0004.2012.01869.x. Epub 2012 Apr 8.
    • Letter
    • Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype.
    • Moreira MA, Bobrovnitchaia IG, Lima MA, Santos AC, Ramos JP, Souza KR, Peixoto A, Teixeira MR, Vargas FR.
    • Fam Cancer. 2012 Dec;11(4):657-60. doi: 10.1007/s10689-012-9551-5.
    • BRCA1/BRCA2 gene mutations/SNPs and BRCA1 haplotypes in early-onset breast cancer patients of Indian ethnicity.
    • Juwle A, Saranath D.
    • Med Oncol. 2012 Dec;29(5):3272-81. doi: 10.1007/s12032-012-0294-9. Epub 2012 Jul 3.
    • [Descriptive epidemiology and molecular genetics of hereditary breast cancer in Costa Rica].
    • García-Jiménez L, Gutiérrez-Espeleta G, Narod SA.
    • Rev Biol Trop. 2012 Dec;60(4):1663-8.
    • [Article in Spanish]
    • Seventeen years after BRCA1: what is the BRCA mutation status of the breast cancer patients in Africa? - a systematic review.
    • Oluwagbemiga LA, Oluwole A, Kayode AA.
    • Springerplus.2012 Dec;1(1):83. Epub 2012 Dec 28.
    • Genotypic and phenotypic analysis of familial male breast cancer shows under representation of the HER2 and basal subtypes in BRCA-associated carcinomas.
    • Deb S, Jene N; Kconfab Investigators, Fox SB.
    • BMC Cancer. 2012 Nov 9;12:510. doi: 10.1186/1471-2407-12-510.
    • Triple-negative breast cancer and PTEN (phosphatase and tensin homologue) loss are predictors of BRCA1 germline mutations in women with early-onset and familial breast cancer, but not in women with isolated late-onset breast cancer.
    • Phuah SY, Looi LM, Hassan N, Rhodes A, Dean S, Taib NA, Yip CH, Teo SH.
    • Breast Cancer Res. 2012 Nov 2;14(6):R142. doi: 10.1186/bcr3347.
    • Non-random distribution of breast cancer susceptibility loci on human chromosomes.
    • Saify K, Saadat M.
    • Breast Cancer Res Treat. 2012 Nov;136(1):315-8. doi: 10.1007/s10549-012-2208-0. Epub 2012 Aug 22.
    • Letter
    • BRCA1 and BRCA2 mutations among familial breast cancer patients from Costa Rica.
    • Gutiérrez Espeleta G, Llacuachaqui M, García-Jiménez L, Aguilar Herrera M, Loáiciga Vega K, Ortiz A, Royer R, Li S, Narod S.
    • Clin Genet. 2012 Nov;82(5):484-8. doi: 10.1111/j.1399-0004.2011.01774.x. Epub 2011 Oct 5.
    • Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families.
    • Novaković S, Milatović M, Cerkovnik P, Stegel V, Krajc M, Hočevar M, Zgajnar J, Vakselj A.
    • Int J Oncol. 2012 Nov;41(5):1619-27. doi: 10.3892/ijo.2012.1595. Epub 2012 Aug 21.
    • Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer.
    • Pern F, Bogdanova N, Schürmann P, Lin M, Ay A, Länger F, Hillemanns P, Christiansen H, Park-Simon TW, Dörk T.
    • PLoS One. 2012;7(10):e47993. doi: 10.1371/journal.pone.0047993. Epub 2012 Oct 24.
    • Effects of the missense mutations in canine BRCA2 on BRC repeat 3 functions and comparative analyses between canine and human BRC repeat 3.
    • Yoshikawa Y, Ochiai K, Morimatsu M, Suzuki Y, Wada S, Taoda T, Iwai S, Chikazawa S, Orino K, Watanabe K.
    • PLoS One. 2012;7(10):e45833. doi: 10.1371/journal.pone.0045833. Epub 2012 Oct 12.
    • BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.
    • Solano AR, Aceto GM, Delettieres D, Veschi S, Neuman MI, Alonso E, Chialina S, Chacón RD, Renato MC, Podestá EJ.
    • Springerplus. 2012 Sep 25;1:20. doi: 10.1186/2193-1801-1-20. eCollection 2012.
    • Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis.
    • Kwong A, Ng EK, Wong CL, Law FB, Au T, Wong HN, Kurian AW, West DW, Ford JM, Ma ES.
    • PLoS One. 2012;7(9):e43994. doi: 10.1371/journal.pone.0043994. Epub 2012 Sep 7.
    • High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients.
    • Fackenthal JD, Zhang J, Zhang B, Zheng Y, Hagos F, Burrill DR, Niu Q, Huo D, Sveen WE, Ogundiran T, Adebamowo C, Odetunde A, Falusi AG, Olopade OI.
    • Int J Cancer. 2012 Sep 1;131(5):1114-23. doi: 10.1002/ijc.27326. Epub 2012 Jan 27.
    • Genetic determinants of breast cancer risk: a review of current literature and issues pertaining to clinical application.
    • Njiaju UO, Olopade OI.
    • Breast J. 2012 Sep;18(5):436-42. doi: 10.1111/j.1524-4741.2012.01274.x.
    • Review
    • Limited significance of family history for presence of BRCA1 gene mutation in Polish breast and ovarian cancer cases.
    • Brozek I, Ratajska M, Piatkowska M, Kluska A, Balabas A, Dabrowska M, Nowakowska D, Niwinska A, Rachtan J, Steffen J, Limon J.
    • Fam Cancer. 2012 Sep;11(3):351-4. doi: 10.1007/s10689-012-9519-5.
    • Breast cancer risk factors differ between Asian and white women with BRCA1/2 mutations.
    • de Bruin MA, Kwong A, Goldstein BA, Lipson JA, Ikeda DM, McPherson L, Sharma B, Kardashian A, Schackmann E, Kingham KE, Mills MA, West DW, Ford JM, Kurian AW.
    • Fam Cancer. 2012 Sep;11(3):429-39. doi: 10.1007/s10689-012-9531-9.
    • Breast and ovarian cancer risk management in a French cohort of 158 women carrying a BRCA1 or BRCA2 germline mutation: patient choices and outcome.
    • This P, de la Rochefordière A, Savignoni A, Falcou MC, Tardivon A, Thibault F, Alran S, Fourchotte V, Fitoussi A, Couturaud B, Dolbeault S, Salmon RJ, Sigal-Zafrani B, Asselain B, Stoppa-Lyonnet D.
    • Fam Cancer. 2012 Sep;11(3):473-82. doi: 10.1007/s10689-012-9539-1.
    • Associations between BRCA Mutations in High-Risk Breast Cancer Patients and Familial Cancers Other than Breast or Ovary.
    • Noh JM, Choi DH, Baek H, Nam SJ, Lee JE, Kim JW, Ki CS, Park W, Huh SJ.
    • J Breast Cancer. 2012 Sep;15(3):283-7. doi: 10.4048/jbc.2012.15.3.283. Epub 2012 Sep 28.
    • Breast cancer in the Arctic--changes over the past decades.
    • Fredslund SO, Bonefeld-Jørgensen EC.
    • Int J Circumpolar Health. 2012 Aug 16;71:19155. doi: 10.3402/ijch.v71i0.19155.

    Related:

    Review:

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

    • Accuracy of BRCA1/2 mutation prediction models in Korean breast cancer patients.
    • Kang E, Park SK, Yang JJ, Park B, Lee MH, Lee JW, Suh YJ, Lee JE, Kim HA, Oh SJ, Kim SW; Korean Breast Cancer Society.
    • Breast Cancer Res Treat. 2012 Aug;134(3):1189-97. doi: 10.1007/s10549-012-2022-8. Epub 2012 Mar 22.
    • Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.
    • Kim H, Cho DY, Choi DH, Choi SY, Shin I, Park W, Huh SJ, Han SH, Lee MH, Ahn SH, Son BH, Kim SW; Korean Breast Cancer Study Group, Haffty BG.
    • Breast Cancer Res Treat. 2012 Aug;134(3):1315-26. doi: 10.1007/s10549-012-2159-5. Epub 2012 Jul 14.
    • Familial breast cancer.
    • Lalloo F, Evans DG.
    • Clin Genet. 2012 Aug;82(2):105-14. doi: 10.1111/j.1399-0004.2012.01859.x. Epub 2012 Apr 13.
    • BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
    • Spurdle AB, Whiley PJ, Thompson B, Feng B, Healey S, Brown MA, Pettigrew C; kConFab, Van Asperen CJ, Ausems MG, Kattentidt-Mouravieva AA, van den Ouweland AM; Dutch Belgium UV Consortium, Lindblom A, Pigg MH, Schmutzler RK, Engel C, Meindl A; German Consortium of Hereditary Breast and Ovarian Cancer, Caputo S, Sinilnikova OM, Lidereau R; French COVAR group collaborators, Couch FJ, Guidugli L, Hansen Tv, Thomassen M, Eccles DM, Tucker K, Benitez J, Domchek SM, Toland AE, Van Rensburg EJ, Wappenschmidt B, Borg Å, Vreeswijk MP, Goldgar DE; ENIGMA Consortium.
    • J Med Genet. 2012 Aug;49(8):525-32.

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Pathogenic variant with low penetrance identified in BRCA1

    Subject: Reduced penetrance pathogenic BRCA1 mutation

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

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

    Related:

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

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

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: articles needed

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

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: contralateral breast risk for BRCA+ male

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

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: AJ Founder Mutations

    • Long-term follow-up of Jewish women with a BRCA1 and BRCA2 mutation who underwent population genetic screening.
    • Metcalfe KA, Mian N, Enmore M, Poll A, Llacuachaqui M, Nanda S, Sun P, Hughes KS, Narod SA.
    • Breast Cancer Res Treat. 2012 Jun;133(2):735-40. doi: 10.1007/s10549-011-1941-0. Epub 2012 Jan 13.
    • Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families.
    • Schneegans SM, Rosenberger A, Engel U, Sander M, Emons G, Shoukier M.
    • Fam Cancer. 2012 Jun;11(2):181-8. doi: 10.1007/s10689-011-9498-y.
    • [Prevalence of mutations BRCA1 5382insC, and CHEK2 1100delC in the population of Siberian region].
    • Chasovnikova OB, Mitrofanov DV, Anisimenko MS, Voevoda MI, Kovalenko SP, Liakhovich VV.
    • Genetika. 2012 Jun;48(6):768-72.
    • [Article in Russian]
    • BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
    • Tazzite A, Jouhadi H, Nadifi S, Aretini P, Falaschi E, Collavoli A, Benider A, Caligo MA.
    • Gynecol Oncol. 2012 Jun;125(3):687-92. doi: 10.1016/j.ygyno.2012.03.007. Epub 2012 Mar 13.
    • Who's to blame? Accounts of genetic responsibility and blame among Ashkenazi Jewish women at risk of BRCA breast cancer.
    • Mozersky J.
    • Sociol Health Illn. 2012 Jun;34(5):776-90. doi: 10.1111/j.1467-9566.2011.01427.x. Epub 2012 Jan 18.
    • Full-exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer.
    • Vaca-Paniagua F, Alvarez-Gomez RM, Fragoso-Ontiveros V, Vidal-Millan S, Herrera LA, Cantú D, Bargallo-Rocha E, Mohar A, López-Camarillo C, Pérez-Plasencia C.
    • PLoS One. 2012;7(5):e37432. doi: 10.1371/journal.pone.0037432. Epub 2012 May 24.
    • Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia.
    • Levanat S, Musani V, Cvok ML, Susac I, Sabol M, Ozretic P, Car D, Eljuga D, Eljuga L, Eljuga D.
    • Gene. 2012 May 1;498(2):169-76. doi: 10.1016/j.gene.2012.02.010. Epub 2012 Feb 17.
    • Identification of the prevalent BRCA1 and BRCA2 mutations in the female population of Puerto Rico.
    • Dutil J, Colon-Colon JL, Matta JL, Sutphen R, Echenique M.
    • Cancer Genet. 2012 May;205(5):242-8. doi: 10.1016/j.cancergen.2012.04.002.

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Question founder mutations Puerto Rico.

    • Allelic transcripts dosage effect in morphologically normal ovarian cells from heterozygous carriers of a BRCA1/2 French Canadian founder mutation.
    • Abd-Rabbo D, Abaji C, Cardin GB, Filali-Mouhim A, Arous C, Portelance L, Escobar E, Cloutier S, Tonin PN, Provencher DM, Mes-Masson AM, Maugard CM.
    • Cancer Prev Res (Phila). 2012 May;5(5):765-77. doi: 10.1158/1940-6207.CAPR-11-0547. Epub 2012 Mar 8.
    • Recognizing BRCA gene mutation risk subsequent to breast cancer diagnosis in southwestern Ontario.
    • Vanstone M, Chow W, Lester L, Ainsworth P, Nisker J, Brackstone M.
    • Can Fam Physician. 2012 May;58(5):e258-66.
    • [Clinical features and disease course in patients with BRCA1-dependent ovarian cancer].
    • Blecharz P, Szatkowski W, Bodzek M, Łuczyńska E.
    • Ginekol Pol. 2012 May;83(5):353-6.
    • [Article in Polish]
    • Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.
    • Finkelman BS, Rubinstein WS, Friedman S, Friebel TM, Dubitsky S, Schonberger NS, Shoretz R, Singer CF, Blum JL, Tung N, Olopade OI, Weitzel JN, Lynch HT, Snyder C, Garber JE, Schildkraut J, Daly MB, Isaacs C, Pichert G, Neuhausen SL, Couch FJ, van't Veer L, Eeles R, Bancroft E, Evans DG, Ganz PA, Tomlinson GE, Narod SA, Matloff E, Domchek S, Rebbeck TR.
    • J Clin Oncol. 2012 Apr 20;30(12):1321-8. doi: 10.1200/JCO.2011.37.8133. Epub 2012 Mar 19.
    • Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients.
    • Lee DS, Yoon SY, Looi LM, Kang P, Kang IN, Sivanandan K, Ariffin H, Thong MK, Chin KF, Mohd Taib NA, Yip CH, Teo SH.
    • Breast Cancer Res. 2012 Apr 16;14(2):R66.
    • Translational advances regarding hereditary breast cancer syndromes.
    • Gage M, Wattendorf D, Henry LR.
    • J Surg Oncol. 2012 Apr 1;105(5):444-51. doi: 10.1002/jso.21856.
    • Review
    • Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer.
    • Zhang J, Pei R, Pang Z, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Breast Cancer Res Treat. 2012 Apr;132(2):421-8. doi: 10.1007/s10549-011-1596-x. Epub 2011 May 26.
    • Phenocopy breast cancer rates in Israeli BRCA1 BRCA2 mutation carrier families: is the risk increased in non-carriers?
    • Bernholtz S, Laitman Y, Kaufman B, Shimon-Paluch S, Friedman E.
    • Breast Cancer Res Treat. 2012 Apr;132(2):669-73. doi: 10.1007/s10549-011-1886-3. Epub 2011 Nov 24.
    • [Clinical aspects of familial ovarian cancer - current status and issues in Japan].
    • Sekine M, Yoshihara K, Tanaka K.
    • Gan To Kagaku Ryoho. 2012 Apr;39(4):506-11.
    • [Article in Japanese]
    • Accuracy of BRCA1/2 mutation prediction models for different ethnicities and genders: experience in a southern Chinese cohort.
    • Kwong A, Wong CH, Suen DT, Co M, Kurian AW, West DW, Ford JM.
    • World J Surg. 2012 Apr;36(4):702-13. doi: 10.1007/s00268-011-1406-y.
    • Germline BRCA mutation does not prevent response to taxane-based therapy for the treatment of castration-resistant prostate cancer.
    • Gallagher DJ, Cronin AM, Milowsky MI, Morris MJ, Bhatia J, Scardino PT, Eastham JA, Offit K, Robson ME.
    • BJU Int. 2012 Mar;109(5):713-9. doi: 10.1111/j.1464-410X.2011.10292.x. Epub 2011 Jul 14.
    • Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy.
    • Ghiorzo P, Pensotti V, Fornarini G, Sciallero S, Battistuzzi L, Belli F, Bonelli L, Borgonovo G, Bruno W, Gozza A, Gargiulo S, Mastracci L, Nasti S, Palmieri G, Papadia F, Pastorino L, Russo A, Savarino V, Varesco L, Bernard L, Bianchi Scarrà G; Genoa Pancreatic Cancer Study Group.
    • Fam Cancer. 2012 Mar;11(1):41-7. doi: 10.1007/s10689-011-9483-5.
    • Low prevalence of BRCA1 and BRCA2 mutations in the sporadic breast cancer of Spanish population.
    • de Juan Jiménez I, Esteban Cardeñosa E, Palanca Suela S, Barragán González E, Aznar Carretero I, Munárriz Gandía B, Santaballa Bertran A, Torregrosa Maicas MD, Guillén Ponce C, Sánchez Heras AB, Bayón Lara A, Fuster Lluch O, Bolufer Gilabert P.
    • Fam Cancer. 2012 Mar;11(1):49-56. doi: 10.1007/s10689-011-9481-7.
    • BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients.
    • Keshavarzi F, Javadi GR, Zeinali S.
    • Fam Cancer. 2012 Mar;11(1):57-67. doi: 10.1007/s10689-011-9477-3.
    • Implications for cancer genetics practice of pro-actively assessing family history in a General Practice cohort in North West London.
    • Kohut K, D'Mello L, Bancroft EK, Thomas S, Young MA, Myhill K, Shanley S, Briggs BH, Newman M, Saraf IM, Cox P, Scambler S, Wagman L, Wyndham MT, Eeles RA, Ferris M.
    • Fam Cancer. 2012 Mar;11(1):107-13. doi: 10.1007/s10689-011-9482-6.
    • Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing.
    • Jang JH, Lee JE, Kwon MJ, Ki CS, Kim JW, Nam SJ, Yang JH.
    • J Hum Genet. 2012 Mar;57(3):212-5. doi: 10.1038/jhg.2011.139. Epub 2012 Jan 5.
    • Common BRCA1 and BRCA2 mutations in breast cancer families: a meta-analysis from systematic review.
    • Wang F, Fang Q, Ge Z, Yu N, Xu S, Fan X.
    • Mol Biol Rep. 2012 Mar;39(3):2109-18. doi: 10.1007/s11033-011-0958-0. Epub 2011 Jun 4.
    • Meta-Analysis, Review
    • Clinical implications for BRCA gene mutation in breast cancer.
    • Xu J, Wang B, Zhang Y, Li R, Wang Y, Zhang S.
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    • 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.
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    Related:

    Review:

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

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