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    • Germline Variants in 32 Cancer-Related Genes among 700 Chinese Breast Cancer Patients by Next-Generation Sequencing: A Clinic-Based, Observational Study.
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    • Breast cancer polygenic risk scores are associated with short-term risk of poor prognosis breast cancer.
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    • Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
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    • BRCA1, BRCA2, TP53, PIK3CA, PTEN and AKT1 genes mutations in Burkina Faso breast cancer patients: prevalence, spectrum and novel variant.
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    • Radiology. 2022 Aug 30:220440. doi: 10.1148/radiol.220440. Epub ahead of print.

    Commentary:

    Background Parenchymal Enhancement at Breast MRI: More Is Not Better.

    • Aromatase inhibitors and contralateral breast cancer in BRCA mutation carriers.
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    • Breast Cancer Risk in Women from Ghana Carrying Rare Germline Pathogenic Mutations.
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    • Association between Ancestry-Specific 6q25 Variants and Breast Cancer Subtypes in Peruvian Women.
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    • Genetic and clinical characteristics of BRCA-associated hereditary breast cancer in the West region of Kazakhstan.
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    • Comparison of Outcomes Between BRCA Pathogenic Variant Carriers Undergoing Breast-Conserving Surgery Versus Mastectomy.
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    Commentary:

    A Woman Needs to Know She Is a BRCA Carrier Before She Develops Breast Cancer.

    ASO Visual Abstract: Comparison of Outcomes Between BRCA Pathogenic Variant Carriers Undergoing Breast-Conserving Surgery and Those Treated With Mastectomy. (Annals of Surgical Oncology)

    • Incidence of other cancer diagnoses in women with breast cancer: a retrospective cohort study with 42,248 women.
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    • Histological and Immunohistochemical Characteristics for Hereditary Breast Cancer Risk in a Cohort of Brazilian Women.
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    • Breast cancer in East Africa: Prevalence and spectrum of germline SNV/indel and CNVs in BRCA1 and BRCA2 genes among breast cancer patients in Tanzania.
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    • Multi-Gene Mutation Profiling by Targeted Next-Generation Sequencing in Premenopausal Breast Cancer.
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    • Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting.
    • Jürgens H, Roht L, Leitsalu L, Nõukas M, Palover M, Nikopensius T, Reigo A, Kals M, Kallak K, Kütner R, Budrikas K, Kuusk S, Valvere V, Laidre P, Toome K, Rekker K, Tooming M, Ülle Murumets, Kahre T, Kruuv-Käo K, Õunap K, Padrik P, Metspalu A, Esko T, Fischer K, Tõnisson N.
    • Front Genet. 2022 Jul 22;13:881100. doi: 10.3389/fgene.2022.881100.
    • The Identification by Exome Sequencing of Candidate Genes in BRCA-Negative Tunisian Patients at a High Risk of Hereditary Breast/Ovarian Cancer.
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    • Genes (Basel). 2022 Jul 22;13(8):1296. doi: 10.3390/genes13081296.
    • Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.
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    • Screening of BRCA1/2 variants in Mauritanian breast cancer patients.
    • Brahim SM, Zein EE, Bonnet C, Hamed CT, Salame M, Zein MV, Khyatti M, Tolba A, Houmeida A.
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    • TGFBR1*6A as a modifier of breast cancer risk and progression: advances and future prospects.
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    • Study Confirms BRCA1 and BRCA2 Linked to Seven Cancers.
    • Alexander W.
    • Medscape Oncology. 2022 Jul 12.

    Original research:

    Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.

    • Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer.
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    • Functions of Breast Cancer Predisposition Genes: Implications for Clinical Management.
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    • Adherence to the 2020 American Cancer Society Guideline for Cancer Prevention and risk of breast cancer for women at increased familial and genetic risk in the Breast Cancer Family Registry: an evaluation of the weight, physical activity, and alcohol consumption recommendations.
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    • Breast Cancer Res Treat. 2022 Jul 2. doi: 10.1007/s10549-022-06656-7. Epub ahead of print.
    • Characteristics of breast cancer patients tested for germline BRCA1/2 mutations by next-generation sequencing in Ramathibodi Hospital, Mahidol University.
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    • PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina.
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    • Breast Cancer Res Treat. 2022 Jul;194(2):403-412. doi: 10.1007/s10549-022-06620-5. Epub 2022 May 24.
    • Durable Disease-free Survival in a Patient with Metastatic Triple-negative Breast Cancer Treated with Olaparib Monotherapy.
    • Wang X, Hu N, Cui L, Si Y, Yue J, Zheng F, Kang Y, Yuan P.
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    • Screening of BRCA1 (c.5177_5180delGAAA rs80357867 and c.4986+6T>C rs80358086) and the BRCA2 (c.6445_6446delAT rs80359592) Genes for Breast Cancer Prevention in Burkina Faso.
    • Kiendrebeogo IT, Zoure AA, Zongo FI, Ouedraogo SY, Sawadogo AY, Amegnona J, Sombie HK, Bazie JTVE, Sorgho PA, Yonli AT, Ouedraogo MNL, Obiri-Yeboah D, Zongo N, Bambara HA, Simpore J.
    • Ethiop J Health Sci. 2022 Jul;32(4):699-708. doi: 10.4314/ejhs.v32i4.5.
    • Evaluating breast cancer predisposition genes in women of African ancestry.
    • Díaz-Zabala H, Guo X, Ping J, Wen W, Shu XO, Long J, Lipworth L, Li B, Fadden MK, Pal T, Blot WJ, Cai Q, Haiman CA, Palmer JR, Sanderson M, Zheng W.
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    • Breast cancer risk stratification in women of screening age: Incremental effects of adding mammographic density, polygenic risk, and a gene panel.
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    • Founder BRCA1 mutations in Nepalese population.
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    • Germline mutations in Chinese ovarian cancer with or without breast cancer.
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    • Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers.
    • Borde J, Laitman Y, Blümcke B, Niederacher D, Weber-Lassalle K, Sutter C, Rump A, Arnold N, Wang-Gohrke S, Horváth J, Gehrig A, Schmidt G, Dutrannoy V, Ramser J, Hentschel J, Meindl A, Schroeder C, Wappenschmidt B, Engel C, Kuchenbaecker K, Schmutzler RK, Friedman E, Hahnen E, Ernst C.
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    • Breast Cancer with Low Recurrence Score on Oncotype DX©: Interplay Between Early Recurrence, Lobular Histology and BRCA Mutation.
    • Zarbiv Y, Wygoda YB, Grinshpun A, Hamburger T, Sella T, Breuer S, Maimon O, Rottenberg Y, Peretz T, Kadouri L.
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    • Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients.
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    • Environmental Contaminants Modulate Breast Cancer Development and Outcome in TP53 p.R337H Carriers and Noncarriers.
    • Gerber VKQ, Paraizo MM, Ibañez HC, Casali-da-Rocha JC, Pinto EM, Andrade DP, Ibañez MVC, Komechen H, Figueiredo MMO, Custódio G, Fiori CMCM, Balbinotti JHG, Nardin JM, Almeida TA, Beltrame OO, Yamada PA, de Fraga GS, de Brito LL, Martins J, Melanda VS, Licht OAB, Teixeira VZ, Pinho SKS, Bottini S, Lalli E, Zambetti GP, Figueiredo BC.
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    • Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan.
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    • The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.
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    • Review
    • Update Breast Cancer 2022 Part 1 - Early Stage Breast Cancer.
    • Welslau M, Müller V, Lüftner D, Schütz F, Stickeler E, Fasching PA, Janni W, Thomssen C, Witzel I, Fehm TN, Belleville E, Bader S, Seitz K, Untch M, Thill M, Tesch H, Ditsch N, Lux MP, Aktas B, Banys-Paluchowski M, Schneeweiss A, Harbeck N, Würstlein R, Hartkopf AD, Wöckel A, Seliger B, Massa C, Kolberg HC.
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    • Are Mutation Carrier Patients Different from Non-Carrier Patients? Genetic, Pathology, and US Features of Patients with Breast Cancer.
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    • Genetic Aspects of Mammographic Density Measures Associated with Breast Cancer Risk.
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    • Cancers (Basel). 2022 Jun 2;14(11):2767. doi: 10.3390/cancers14112767.
    • Pathogenicity Reclassification of Genetic Variants Related to Early-Onset Breast Cancer among Women of Mongoloid Origin.
    • Gervas P, Molokov A, Babyshkina N, Kiselev A, Zarubin A, Yumov E, Pisareva L, Choynzonov E, Cherdyntseva N.
    • Asian Pac J Cancer Prev. 2022 Jun 1;23(6):2027-2033. doi: 10.31557/APJCP.2022.23.6.2027.
    • Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.
    • Waks AG, Kim D, Jain E, Snow C, Kirkner GJ, Rosenberg SM, Oh C, Poorvu PD, Ruddy KJ, Tamimi RM, Peppercorn J, Schapira L, Borges VF, Come SE, Brachtel EF, Warner E, Collins LC, Partridge AH, Wagle N.
    • Clin Cancer Res. 2022 Jun 1;28(11):2339-2348. doi: 10.1158/1078-0432.CCR-21-2572.

    Commentary:

    One Size Does Not Fit All: Breast Cancer in Young Women.

    • Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
    • Momozawa Y, Sasai R, Usui Y, Shiraishi K, Iwasaki Y, Taniyama Y, Parsons MT, Mizukami K, Sekine Y, Hirata M, Kamatani Y, Endo M, Inai C, Takata S, Ito H, Kohno T, Matsuda K, Nakamura S, Sugano K, Yoshida T, Nakagawa H, Matsuo K, Murakami Y, Spurdle AB, Kubo M.
    • JAMA Oncol. 2022 Jun 1;8(6):871-878. doi: 10.1001/jamaoncol.2022.0476.

    Research news: Study Confirms BRCA1 and BRCA2 Linked to Seven Cancers. (Medscape Oncology)

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    • Ethical, legal, and sociocultural challenges of genomic research in Jordan: a mixed methods study in patients with breast cancer with Jordanian-Palestinian heritage.
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    • Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations.
    • Yanus GA, Savonevich EL, Sokolenko AP, Romanko AA, Ni VI, Bakaeva EK, Gorustovich OA, Bizin IV, Imyanitov EN.
    • Fam Cancer. 2022 May 21. doi: 10.1007/s10689-022-00296-y. Epub ahead of print.
    • Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility.
    • Koivuluoma S, Vorimo S, Mattila TM, Tervasmäki A, Kumpula T, Kuismin O, Winqvist R, Moilanen J, Mantere T, Pylkäs K.
    • Fam Cancer. 2022 May 20. doi: 10.1007/s10689-022-00295-z. Epub ahead of print.
    • Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.
    • Benito-Sánchez B, Barroso A, Fernández V, Mercadillo F, Núñez-Torres R, Pita G, Pombo L, Morales-Chamorro R, Cano-Cano JM, Urioste M, González-Neira A, Osorio A.
    • Sci Rep. 2022 May 20;12(1):8547. doi: 10.1038/s41598-022-12480-2.
    • Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
    • Dorling L, Carvalho S, Allen J, Parsons MT, Fortuno C, González-Neira A, Heijl SM, Adank MA, Ahearn TU, Andrulis IL, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bogdanova NV, Bojesen SE, Bolla MK, Bremer M, Briceno I, Camp NJ, Campbell A, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G; NBCS Collaborators, Collée JM, Czene K, Dennis J, Dörk T, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Gabrielson M, Gago-Dominguez M, García-Closas M, Giles GG, Glendon G, Guénel P, Gündert M, Hadjisavvas A, Hahnen E, Hall P, Hamann U, Harkness EF, Hartman M, Hogervorst FBL, Hollestelle A, Hoppe R, Howell A; kConFab Investigators; SGBCC Investigators, Jakubowska A, Jung A, Khusnutdinova E, Kim SW, Ko YD, Kristensen VN, Lakeman IMM, Li J, Lindblom A, Loizidou MA, Lophatananon A, Lubinski J, Luccarini C, Madsen MJ, Mannermaa A, Manoochehri M, Margolin S, Mavroudis D, Milne RL, Mohd Taib NA, Muir K, Nevanlinna H, Newman WG, Oosterwijk JC, Park SK, Peterlongo P, Radice P, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Sim X, Southey MC, Surowy H, Suvanto M, Tomlinson I, Torres D, Truong T, van Asperen CJ, Waltes R, Wang Q, Yang XR, Pharoah PDP, Schmidt MK, Benitez J, Vroling B, Dunning AM, Teo SH, Kvist A, de la Hoya M, Devilee P, Spurdle AB, Vreeswijk MPG, Easton DF.
    • Genome Med. 2022 May 18;14(1):51. doi: 10.1186/s13073-022-01052-8.
    • Pregnancy Associated Breast Cancer Among Israeli BRCA1/BRCA2 Carriers in a High-Risk Clinic.
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    • Molecular phenotypes and clinical characterization of familial hereditary breast cancer among half and full sisters.
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    • CDH1 germline mutations in families with hereditary lobular breast cancer.
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    • Review
    • Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews.
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    • Correlation between the risk of ovarian cancer and BRCA recurrent pathogenic variants in Japan.
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    • Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.
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    • Editorial: Familial Cancer in China: From Detection to Screening and Management.
    • Chen T, Yuan Y.
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    • Genetic, clinic and histopathologic characterization of BRCA-associated hereditary breast and ovarian cancer in southwestern Finland.
    • Pallonen TA, Lempiäinen SMM, Joutsiniemi TK, Aaltonen RI, Pohjola PE, Kankuri-Tammilehto MK.
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    • Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.
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    • Common Variant in ALDH2 Modifies the Risk of Breast Cancer Among Carriers of the p.K3326* Variant in BRCA2.
    • Kluzniak W, Szymiczek A, Rodrigue A, Wokolorczyk D, Rusak B, Stempa K, Huzarski T, Gronwald J, Lubinski J, Zamani N, Zhang S, Masson JY, Narod SA; Polish Hereditary Breast Cancer Consortium, Cybulski C, Akbari MR.
    • JCO Precis Oncol. 2022 Apr [20];6:e2100450. doi: 10.1200/PO.21.00450.
    • Male Breast Cancer: From Molecular Genetics to Clinical Management.
    • Pensabene M, Von Arx C, De Laurentiis M.
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    • Overall survival analysis of > 65-year-old patients with breast cancer based on their molecular, clinicopathological and laboratory factors.
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    • A South African Indian population group dataset for breast cancer and BRCA1/2 variants.
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    • Data Brief. 2022 Apr 14;42:108180. doi: 10.1016/j.dib.2022.108180.

    Original research:

    Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study.

    • Germline Mutational Landscape in Chinese Patients With Advanced Breast Cancer.
    • Zhang J, Wang N, Zheng T, Lu T, Zhang R, Ran R, Li K, Huang Y, Xie F, Zhang Y, Jia S, Yu J, Li H.
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    • Phylogenetic Analysis IDs Subset of De Novo Tumors Unrelated to Primary DCIS.
    • Ray T.
    • GenomeWeb. Disease Areas. Cancer. 2022 Apr 11.
    • Some Recurrent DCIS Breast Tumors are Actually New Lesions.
    • [No author given]
    • Inside Precision Medicine. Topics. Oncology. 2022 Apr 11.
    • Prevalence of Clinically Relevant Germline BRCA Variants in a Large Unselected South African Breast and Ovarian Cancer Cohort: A Public Sector Experience.
    • Van der Merwe NC, Combrink HM, Ntaita KS, Oosthuizen J.
    • Front Genet. 2022 Apr 8;13:834265. doi: 10.3389/fgene.2022.834265.
    • Modification of BRCA1-associated breast cancer risk by HMMR overexpression.
    • Mateo F, He Z, Mei L, de Garibay GR, Herranz C, García N, Lorentzian A, Baiges A, Blommaert E, Gómez A, Mirallas O, Garrido-Utrilla A, Palomero L, Espín R, Extremera AI, Soler-Monsó MT, Petit A, Li R, Brunet J, Chen K, Tan S, Eaves CJ, McCloskey C, Hakem R, Khokha R, Lange PF, Lázaro C, Maxwell CA, Pujana MA.
    • Nat Commun. 2022 Apr 7;13(1):1895. doi: 10.1038/s41467-022-29335-z.
    • Incidence and impact of brain metastasis in patients with hereditary BRCA1 or BRCA2 mutated invasive breast cancer.
    • Garber HR, Raghavendra AS, Lehner M, Qiao W, Gutierrez-Barrera AM, Tripathy D, Arun B, Ibrahim NK.
    • NPJ Breast Cancer. 2022 Apr 7;8(1):46. doi: 10.1038/s41523-022-00407-z.
    • Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily.
    • Stella S, Vitale SR, Martorana F, Massimino M, Pavone G, Lanzafame K, Bianca S, Barone C, Gorgone C, Fichera M, Manzella L.
    • Cancer Manag Res. 2022 Apr 5;14:1341-1352. doi: 10.2147/CMAR.S348529.
    • Spectrum of BRCA1/2 Mutations in Romanian Breast and Ovarian Cancer Patients.
    • Vidra R, Ciuleanu TE, Nemes A, Pascu O, Heroiu AM, Antone N, Vidrean AI, Oprean CM, Pop LA, Berindan-Neagoe I, Eniu R, Eniu A.
    • Int J Environ Res Public Health. 2022 Apr 4;19(7):4314. doi: 10.3390/ijerph19074314.
    • Cancer Causative Mutations Occurring in Early Embryogenesis.
    • Pareja F, Ptashkin RN, Brown DN, Derakhshan F, Selenica P, da Silva EM, Gazzo AM, Da Cruz Paula A, Breen K, Shen R, Marra A, Zehir A, Benayed R, Berger MF, Ceyhan-Birsoy O, Jairam S, Sheehan M, Patel U, Kemel Y, Casanova-Murphy J, Schwartz CJ, Vahdatinia M, Comen E, Borsu L, Pei X, Riaz N, Abramson DH, Weigelt B, Walsh MF, Hadjantonakis AK, Ladanyi M, Offit K, Stadler ZK, Robson ME, Reis-Filho JS, Mandelker D.
    • Cancer Discov. 2022 Apr 1;12(4):949-957. doi: 10.1158/2159-8290.CD-21-1110.

    Commentary:

    Patchwork Cancer Predisposition.

    • Breast Cancer Screening Strategies for Women With ATM, CHEK2, and PALB2 Pathogenic Variants: A Comparative Modeling Analysis.
    • Lowry KP, Geuzinge HA, Stout NK, Alagoz O, Hampton J, Kerlikowske K, de Koning HJ, Miglioretti DL, van Ravesteyn NT, Schechter C, Sprague BL, Tosteson ANA, Trentham-Dietz A, Weaver D, Yaffe MJ, Yeh JM, Couch FJ, Hu C, Kraft P, Polley EC, Mandelblatt JS, Kurian AW, Robson ME; Breast Working Group of the Cancer Intervention and Surveillance Modeling Network (CISNET), in collaboration with the Breast Cancer Surveillance Consortium (BCSC), and the Cancer Risk Estimates Related to Susceptibility (CARRIERS) Consortium.
    • JAMA Oncol. 2022 Apr 1;8(4):587-596. doi: 10.1001/jamaoncol.2021.6204.

    Research news: Breast Cancer Screening with MRI Recommended for Women with Pathogenic Variants. (Inside Precision Medicine)

    Research news: MRI Could Reduce Breast Cancer Deaths in Women at High Risk. (Medscape)

    • Impact of BRCA mutation on the survival and risk of contralateral breast cancer in Asian breast cancer patients.
    • Lin PH, Chen SC, Tseng LM, Chang KJ, Huang AC, Cheng KC, Yang K, Wu HC, Chao TY, Chang YC, Lin PC, Kuo WH, Kuo WL, Lin CH, Chen HM, Yeh DC, Liu LC, Liu CY, Wang MY, Lo C, Lu YS, Huang CS.
    • Breast Cancer Res Treat. 2022 Apr;192(3):629-637. doi: 10.1007/s10549-021-06446-7. Epub 2022 Feb 3.
    • Feasibility of personalized screening and prevention recommendations in the general population through breast cancer risk assessment: results from a dedicated risk clinic.
    • Saghatchian M, Abehsera M, Yamgnane A, Geyl C, Gauthier E, Hélin V, Bazire M, Villoing-Gaudé L, Reyes C, Gentien D, Golmard L, Stoppa-Lyonnet D.
    • Breast Cancer Res Treat. 2022 Apr;192(2):375-383. doi: 10.1007/s10549-021-06445-8. Epub 2022 Jan 7.
    • Association between germline pathogenic variants and breast cancer risk in Japanese women: the HERPACC study.
    • Kasugai Y, Kohmoto T, Taniyama Y, Koyanagi YN, Usui Y, Iwase M, Oze I, Yamaguchi R, Ito H, Imoto I, Matsuo K.
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    • Clin Breast Cancer. 2022 Apr;22(3):e263-e269. doi: 10.1016/j.clbc.2021.07.014. Epub 2021 Jul 27.
    • Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance.
    • Castillo-Guardiola V, Rosado-Jiménez L, Sarabia-Meseguer MD, Marín-Vera M, Macías-Cerrolaza JA, García-Hernández R, Zafra-Poves M, Sánchez-Henarejos P, Moreno-Locubiche MÁ, Cuevas-Tortosa E, Arnaldos-Carrillo M, Ayala de la Peña F, Alonso-Romero JL, Noguera-Velasco JA, Ruiz-Espejo F.
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    • Extended gene panel testing in lobular breast cancer.
    • van Veen EM, Evans DG, Harkness EF, Byers HJ, Ellingford JM, Woodward ER, Bowers NL, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ.
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    • First international workshop of the ATM and cancer risk group (4-5 December 2019).
    • Lesueur F, Easton DF, Renault AL, Tavtigian SV, Bernstein JL, Kote-Jarai Z, Eeles RA, Plaseska-Karanfia D, Feliubadaló L; Spanish ATM working group, Arun B, Herold N, Versmold B, Schmutzler RK; GC-HBOC, Nguyen-Dumont T, Southey MC, Dorling L, Dunning AM, Ghiorzo P, Dalmasso BS, Cavaciuti E, Le Gal D, Roberts NJ, Dominguez-Valentin M, Rookus M, Taylor AMR, Goldstein AM, Goldgar DE; CARRIERS and Ambry Groups, Stoppa-Lyonnet D, Andrieu N.
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    • Conference report
    • Analysis of pathogenic variants in BRCA1 and BRCA2 genes using next-generation sequencing in women with triple negative breast cancer from South India.
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    • Habitat Analysis of Breast Cancer-Enhanced MRI Reflects BRCA1 Mutation Determined by Immunohistochemistry.
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    • BRCA1/2 Serves as a Biomarker for Poor Prognosis in Breast Carcinoma.
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    • Assessing the Variations in Breast/Ovarian Cancer Risk for Chinese BRCA1/2 Carriers.
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    • The Breast Cancer Screening and Timing of Breast MRI-Experience in a Genetic High-Risk Screening Clinic in a Comprehensive Cancer Center.
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    • Breast Cancer Phenotype Associated With Li-Fraumeni Syndrome: A Brazilian Cohort Enriched by TP53 p.R337H Carriers.
    • Sandoval RL, Polidorio N, Leite ACR, Cartaxo M, Pisani JP, Quirino CV, Cezana L, Pereira NG, Pereira AAL, Rossi BM, Achatz MI.
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    • Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics.
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    • BRCA1 Mutation: An Insidious Enemy with Multiple Facets….
    • Godin P, Duhoux FP, Mazzeo F, Rojas M, Bollue E, François A, Galant C, Coulie J, Coyette M, Lentini A, Deswisen Y, Perlepe V, Fellah L, Leconte I, Berlière M.
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    • Genetic anticipation of breast cancer among BRCA1/BRCA2 mutation carriers - a retrospective study.
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    • Case report. [Article in Chinese]
    • Axillary lymphadenopathy in a high-risk breast screening patient following the COVID-19 vaccine: a diagnostic conundrum.
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    Press: Breast Tumor Features Reflecting Germline Variants May Improve Risk Prediction Models. (Precision Oncology News)

    Research news: Variants of Nine Breast Cancer Genes Associated With Severe Disease. (Medscape)

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    • Meta-Analysis
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    • Medscape. 2022 Feb 25.

    Original research:

    Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.

    • Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer.
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    • Breast Cancer Screening with MRI Recommended for Women with Pathogenic Variants.
    • [No author given]
    • Inside Precision Medicine. Topics. Oncology. 2022 Feb 23.

    Original research:

    Breast Cancer Screening Strategies for Women With ATM, CHEK2, and PALB2 Pathogenic Variants: A Comparative Modeling Analysis.

    • Earlier decisions on breast and ovarian surgery reduce cancer in women at high risk.
    • Saul H, Gursul D, Cassidy S, Evans G.
    • BMJ. 2022 Feb 15;376:o258. doi: 10.1136/bmj.o258.
    • Research news

    Original research:

    Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers.

    • Association between 15 known or potential breast cancer susceptibility genes and breast cancer risks in Chinese women.
    • Fu F, Zhang D, Hu L, Sundaram S, Ying D, Zhang Y, Fu S, Zhang J, Yao L, Xu Y, Xie Y.
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    • Single-Nucleotide Polymorphisms in LEP and LEPR Associated With Breast Cancer Risk: Results From a Multicenter Case-Control Study in Chinese Females.
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    • Missed Breast Cancers on MRI in High-Risk Patients: A Retrospective Case-Control Study.
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    • Tomography. 2022 Feb 2;8(1):329-340. doi: 10.3390/tomography8010027.
    • Effects of chemotherapy on contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers: A nationwide cohort study.
    • Akdeniz D, van Barele M, Heemskerk-Gerritsen BAM, Steyerberg EW, Hauptmann M; HEBON Investigators, van de Beek I, van Engelen K, Wevers MR, Gómez García EB, Ausems MGEM, Berger LPV, van Asperen CJ, Adank MA, Collée MJ, Stommel-Jenner DJ, Jager A, Schmidt MK, Hooning MJ.
    • Breast. 2022 Feb;61:98-107. doi: 10.1016/j.breast.2021.12.007. Epub 2021 Dec 14.
    • Clinicopathological features and BRCA1 and BRCA2 mutation status in a prospective cohort of young women with breast cancer.
    • Guzmán-Arocho YD, Rosenberg SM, Garber JE, Vardeh H, Poorvu PD, Ruddy KJ, Kirkner G, Snow C, Tamimi RM, Peppercorn J, Schapira L, Borges VF, Come SE, Brachtel EF, Marotti JD, Warner E, Partridge AH, Collins LC.
    • Br J Cancer. 2022 Feb;126(2):302-309. doi: 10.1038/s41416-021-01597-2. Epub 2021 Oct 26.
    • Air Pollution and Breast Cancer: An Examination of Modification By Underlying Familial Breast Cancer Risk.
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    • Breast cancer risk in BRCA mutation carriers after diagnosis of epithelial ovarian cancer is lower than in carriers without ovarian cancer.
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    • High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
    • Evans DG, van Veen EM, Byers HJ, Evans SJ, Burghel GJ, Woodward ER, Harkness EF, Eccles DM, Greville-Haygate SL, Ellingford JM, Bowers NL, Pereira M, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ.
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    • Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers.
    • Marcinkute R, Woodward ER, Gandhi A, Howell S, Crosbie EJ, Wissely J, Harvey J, Highton L, Murphy J, Holland C, Edmondson R, Clayton R, Barr L, Harkness EF, Howell A, Lalloo F, Evans DG.
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    Research news:

    Earlier decisions on breast and ovarian surgery reduce cancer in women at high risk.

    • BRCA1/2 Mutations in Vietnamese Patients with Hereditary Breast and Ovarian Cancer Syndrome.
    • Le TN, Tran VK, Nguyen TT, Vo NS, Hoang TH, Vo HL, Nguyen TT, Nguyen PD, Nguyen VT, Ta TV, Tran HT.
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    • Novel Insights From the Germline Landscape of Breast Cancer in Brazil.
    • Barbalho D, Sandoval R, Santos E, Pisani J, Quirino C, Garicochea B, Rossi B, Achatz MI.
    • Front Oncol. 2022 Jan 28;11:743231. doi: 10.3389/fonc.2021.743231.
    • The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.
    • Andrikopoulou A, Chatzinikolaou S, Kyriopoulos I, Bletsa G, Kaparelou M, Liontos M, Dimopoulos MA, Zagouri F.
    • Front Oncol. 2022 Jan 21;11:797505. doi: 10.3389/fonc.2021.797505.
    • Real-world evidence of the management and prognosis of young women (<40 years) with de novo metastatic breast cancer.
    • Mallet A, Lusque A, Levy C, Pistilli B, Brain E, Pasquier D, Debled M, Thery JC, Gonçalves A, Desmoulins I, De La Motte Rouge T, Faure C, Ferrero JM, Eymard JC, Mouret-Reynier MA, Patsouris A, Cottu P, Dalenc F, Petit T, Payen O, Uwer L, Guiu S, Sébastien Frenel J.
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    • Rare germline copy number variants (CNVs) and breast cancer risk.
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    • Morphologic and Genomic Characteristics of Breast Cancers Occurring in Individuals with Lynch Syndrome.
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    • New Insights Into c.815_824dup Pathogenic Variant of BRCA1 in Inherited Breast Cancer: A Founder Mutation of West African Origin.
    • Diop JPD, Sène ARG, Dia Y, Ba SA, Mbacke SS, Ly CAT, Sarr PD, Diouf D, Ka S, Mbengue B, Gueye SMK, Diop PS, Sylla Niang M, Gueye PM, Lopez Sall P, Dem A, Cisse A, Dieye A, Ndiaye R.
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    • Associations of genetic susceptibility to 16 cancers with risk of breast cancer overall and by intrinsic subtypes.
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    • The impact of young age (< 40 years) on the outcome of a cohort of patients with primary non-metastatic breast cancer: analysis of 10-year survival of a prospective study.
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    • Gene-Level Germline Contributions to Clinical Risk of Recurrence Scores in Black and White Patients with Breast Cancer.
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    • Mutations of BRCA1/2 Genes in the West of Turkey and Genotype-Phenotype Correlations.
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    • Review

    Commentary:

    Invited Commentary: The Challenges of Early-Onset Breast Cancer.

    • A catalog of curated breast cancer genes.
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    • New Perspectives on the Recurrent Monoallelic Germline Mutations of DNA Repair and Checkpoint Genes and Clinical Variability.
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    • Comparing breast cancer imaging characteristics of CHEK2 with BRCA1 and BRCA2 gene mutation carriers.
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    • Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
    • Li H, Engel C, de la Hoya M, Peterlongo P, Yannoukakos D, Livraghi L, Radice P, Thomassen M, Hansen TVO, Gerdes AM, Nielsen HR, Caputo SM, Zambelli A, Borg A, Solano A, Thomas A, Parsons MT, Antoniou AC, Leslie G, Yang X, Chenevix-Trench G, Caldes T, Kwong A, Pedersen IS, Lautrup CK, John EM, Terry MB, Hopper JL, Southey MC, Andrulis IL, Tischkowitz M, Janavicius R, Boonen SE, Kroeldrup L, Varesco L, Hamann U, Vega A, Palmero EI, Garber J, Montagna M, Van Asperen CJ, Foretova L, Greene MH, Selkirk T, Moller P, Toland AE, Domchek SM, James PA, Thorne H, Eccles DM, Nielsen SM, Manoukian S, Pasini B, Caligo MA, Lazaro C, Kirk J, Wappenschmidt B, Spurdle AB, Couch FJ, Schmutzler R, Goldgar DE; ENIGMA Consortium; CIMBA Consortium.
    • Genet Med. 2022 Jan;24(1):119-129. doi: 10.1016/j.gim.2021.08.016. Epub 2021 Nov 30.
    • Breast cancer surveillance following ovarian cancer in BRCA mutation carriers.
    • John CS, Fong A, Alban R, Gillen J, Moore KM, Walsh CS, Li AJ, Rimel BJ, Amersi F, Cass I.
    • Gynecol Oncol. 2022 Jan;164(1):202-207. doi: 10.1016/j.ygyno.2021.10.077. Epub 2021 Nov 30.
    • Homologous Recombination Deficiencies and Hereditary Tumors.
    • Yamamoto H, Hirasawa A.
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    • Krishnan R, Patel PS, Hakem R.
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    • Clinical significance of gene polymorphisms for hereditary predisposition to breast and ovarian cancer (review of literature).
    • Vodolazhsky DI, Mayakovskaya AV, Kubyshkin AV, Aliev KA, Fomochkina II.
    • Klin Lab Diagn. 2021 Dec 21;66(12):760-767. English. doi: 10.51620/0869-2084-2021-66-12-760-767.
    • Review
    • Invasive Breast Carcinoma: Rare Clinical Presentation in a Male Patient.
    • Hanna M, Solly M.
    • Cureus. 2021 Dec 20;13(12):e20547. doi: 10.7759/cureus.20547.
    • A BRCA1 Coiled-Coil Domain Variant Disrupting PALB2 Interaction Promotes the Development of Mammary Tumors and Confers a Targetable Defect in Homologous Recombination Repair.
    • Pulver EM, Mukherjee C, van de Kamp G, Roobol SJ, Rother MB, van der Gulden H, de Bruijn R, Lattanzio MV, van der Burg E, Drenth AP, Verkaik NS, Hahn K, Klarenbeek S, de Korte-Grimmerink R, van de Ven M, Pritchard CEJ, Huijbers IJ, Xia B, van Gent DC, Essers J, van Attikum H, Ray Chaudhuri A, Bouwman P, Jonkers J.
    • Cancer Res. 2021 Dec 15;81(24):6171-6182. doi: 10.1158/0008-5472.CAN-21-1415. Epub 2021 Sep 21.

    Commentary:

    Coiled-Coil Domain: Uncoiling Tumor Suppression by BRCA1.

    • Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast.
    • Yadav S, Hu C, Nathanson KL, Weitzel JN, Goldgar DE, Kraft P, Gnanaolivu RD, Na J, Huang H, Boddicker NJ, Larson N, Gao C, Yao S, Weinberg C, Vachon CM, Trentham-Dietz A, Taylor JA, Sandler DR, Patel A, Palmer JR, Olson JE, Neuhausen S, Martinez E, Lindstrom S, Lacey JV, Kurian AW, John EM, Haiman C, Bernstein L, Auer PW, Anton-Culver H, Ambrosone CB, Karam R, Chao E, Yussuf A, Pesaran T, Dolinsky JS, Hart SN, LaDuca H, Polley EC, Domchek SM, Couch FJ.
    • J Clin Oncol. 2021 Dec 10;39(35):3918-3926. doi: 10.1200/JCO.21.00640. Epub 2021 Oct 21.
    • Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
    • Southey MC, Dowty JG, Riaz M, Steen JA, Renault AL, Tucker K, Kirk J, James P, Winship I, Pachter N, Poplawski N, Grist S, Park DJ, Pope BJ, Mahmood K, Hammet F, Mahmoodi M, Tsimiklis H, Theys D, Rewse A, Willis A, Morrow A, Speechly C, Harris R, Sebra R, Schadt E, Lacaze P, McNeil JJ, Giles GG, Milne RL, Hopper JL, Nguyen-Dumont T.
    • NPJ Breast Cancer. 2021 Dec 9;7(1):153. doi: 10.1038/s41523-021-00360-3.
    • Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics.
    • Bychkovsky BL, Lo MT, Yussuf A, Horton C, Richardson M, LaDuca H, Garber JE, Rana HQ.
    • Cancer. 2021 Dec 7. doi: 10.1002/cncr.34056. Epub ahead of print.
    • Germline breast cancer susceptibility genes, tumor characteristics, and survival.
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    Commentary:

    Editorial: Familial Cancer in China: From Detection to Screening and Management.

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    • Changing Patterns in Clinicopathological Characteristics of Breast Cancer and Prevalence of BRCA Mutations: Analysis in a Rural Area of Southern China.
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    • Can harmful lifestyle, obesity and weight changes increase the risk of breast cancer in BRCA 1 and BRCA 2 mutation carriers? A Mini review.
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    • Hered Cancer Clin Pract. 2021 Oct 27;19(1):45. doi: 10.1186/s13053-021-00199-6.
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    • Prognostic difficulties of men with breast cancer.
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    • Review
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    • Breast Cancer Res Treat. 2021 Oct 13. doi: 10.1007/s10549-021-06413-2. Epub ahead of print.
    • Review
    • Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients.
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    • Cancer Res Treat. 2021 Oct 13. doi: 10.4143/crt.2021.791. Epub ahead of print.
    • Germline RAD51B variants confer susceptibility to breast and ovarian cancers deficient in homologous recombination.
    • Setton J, Selenica P, Mukherjee S, Shah R, Pecorari I, McMillan B, Pei IX, Kemel Y, Ceyhan-Birsoy O, Sheehan M, Tkachuk K, Brown DN, Zhang L, Cadoo K, Powell S, Weigelt B, Robson M, Riaz N, Offit K, Reis-Filho JS, Mandelker D.
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    • Review
    • Unique challenges and outcomes of young women with breast cancers from a tertiary care cancer centre in India.
    • Bajpai J, Ventrapati P, Joshi S, Wadasadawala T, Rath S, Pathak R, Nandhana R, Mohanty S, Chougle Q, Engineer M, Abraham N, Ghosh J, Nair N, Gulia S, Popat P, A P, Sheth T, Desai S, Thakur M, Rangrajan V, Parmar V, Sarin R, Gupta S, Badwe RA.
    • Breast. 2021 Oct 6;60:177-184. doi: 10.1016/j.breast.2021.09.008. Epub ahead of print.
    • Profile of Pathogenic Mutations and Evaluation of Germline Genetic Testing Criteria in Consecutive Breast Cancer Patients Treated at a North Indian Tertiary Care Center.
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    • Al Talebi ZA, Ali SK, Kareem ZK, Al-Koofee DAF.
    • Asian Pac J Cancer Prev. 2021 Oct 1;22(10):3121-3126. doi: 10.31557/APJCP.2021.22.10.3121.
    • Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer.
    • Yadav S, LaDuca H, Polley EC, Hu C, Niguidula N, Shimelis H, Lilyquist J, Na J, Lee KY, Gutierrez S, Yussuf A, Hart SN, Davis BT, Chao EC, Pesaran T, Goldgar DE, Dolinsky JS, Couch FJ.
    • J Natl Cancer Inst. 2021 Oct 1;113(10):1429-1433. doi: 10.1093/jnci/djaa167.
    • A Genetic Variant of the BTLA Gene is Related to Increased Risk and Clinical Manifestations of Breast Cancer in Chinese Women.
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    • Germline and tumor BRCA1/2 pathogenic variants in Chinese triple-negative breast carcinomas.
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    • J Cancer Res Clin Oncol. 2021 Oct;147(10):2935-2944. doi: 10.1007/s00432-021-03696-2. Epub 2021 Jul 13.
    • Pioneering BRCA1/2 Point-Of-Care Testing for Integration of Germline and Tumor Genetics in Breast Cancer Risk Management: A Vision for the Future of Translational Pharmacogenomics.
    • Mampunye L, van der Merwe NC, Grant KA, Peeters AV, Torrorey-Sawe R, French DJ, Moremi KE, Kidd M, van Eeden PC, Pienaar FM, Kotze MJ.
    • Front Oncol. 2021 Sep 29;11:619817. doi: 10.3389/fonc.2021.619817.
    • Commentary: Mismatch Repair Deficiency and Microsatellite Instability in Triple-Negative Breast Cancer: A Retrospective Study of 440 Patients.
    • Venetis K, Fusco N, Sajjadi E.
    • Front Oncol. 2021 Sep 29;11:735476. doi: 10.3389/fonc.2021.735476.

    Original research:

    Mismatch Repair Deficiency and Microsatellite Instability in Triple-Negative Breast Cancer: A Retrospective Study of 440 Patients.

    • Protein truncating variants in FANCM and risk for ER-negative/triple negative breast cancer.
    • Peterlongo P, Figlioli G, Deans AJ, Couch FJ.
    • NPJ Breast Cancer. 2021 Sep 28;7(1):130. doi: 10.1038/s41523-021-00338-1.
    • Genetic Technologies, WashU Team up to Study Breast Cancer Risk in Woman of African Descent.
    • [No author given]
    • Precision Oncology News. Diagnostics. 2021 Sep 28.
    • Contralateral risk-reducing local therapy in breast cancer patients with BRCA1/2 mutations: systemic review and meta-analysis.
    • Jia Z, Li J, Zhang Y, Wang X, Xing J, Xing Z, Huang X, Liu G, Zhang M, Feng K, Wu J, Wang W, Wang J, Liu J, Wang X.
    • Cancer Cell Int. 2021 Sep 25;21(1):512. doi: 10.1186/s12935-021-02194-2.
    • The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.
    • Resch LD, Hotz A, Zimmer AD, Komlosi K, Singh N, Tzschach A, Windfuhr-Blum M, Juhasz-Boess I, Erbes T, Fischer J, Alter S.
    • Genes (Basel). 2021 Sep 24;12(10):1483. doi: 10.3390/genes12101483.
    • Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing.
    • Patruno M, De Summa S, Resta N, Caputo M, Costanzo S, Digennaro M, Pilato B, Bagnulo R, Pantaleo A, Simone C, Natalicchio MI, De Matteis E, Tarantino P, Tommasi S, Paradiso A.
    • Cancers (Basel). 2021 Sep 21;13(18):4714. doi: 10.3390/cancers13184714.
    • Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco.
    • Laraqui A, Cavaillé M, Uhrhammer N, ElBiad O, Bidet Y, El Rhaffouli H, El Anaz H, Rahali DM, Kouach J, Guelzim K, Badaoui B, AlBouzidi A, Oukabli M, Tanz R, Sbitti Y, Ichou M, Ennibi K, Sekhsokh Y, Bignon YJ.
    • J Genomics. 2021 Sep 18;9:43-54. doi: 10.7150/jgen.61713.
    • Risks of subsequent primary cancers among breast cancer survivors according to hormone receptor status.
    • Sung H, Freedman RA, Siegel RL, Hyun N, DeSantis CE, Ruddy KJ, Jemal A.
    • Cancer. 2021 Sep 15;127(18):3310-3324. doi: 10.1002/cncr.33602. Epub 2021 May 18.
    • Should Age-Dependent Absolute Risk Thresholds Be Used for Risk Stratification in Risk-Stratified Breast Cancer Screening?
    • Pashayan N, Antoniou AC, Lee A, Wolfson M, Chiquette J, Eloy L, Eisen A, Stockley TL, Nabi H, Brooks JD, Dorval M, Easton DF, Knoppers BM, Chiarelli AM, Simard J.
    • J Pers Med. 2021 Sep 15;11(9):916. doi: 10.3390/jpm11090916.
    • Cancer Spectrum, Family History of Cancer and Overall Survival in Men with Germline BRCA1 or BRCA2 Mutations.
    • Reichl F, Muhr D, Rebhan K, Kramer G, Shariat SF, Singer CF, Tan YY.
    • J Pers Med. 2021 Sep 15;11(9):917. doi: 10.3390/jpm11090917.
    • Retrospective Analysis of Clinicopathological Features and Familial Cancer History of Synchronous Bilateral Breast Cancer.
    • Huang KL, Liu YL, Hsu YY, Kuo WL.
    • Healthcare (Basel). 2021 Sep 13;9(9):1203. doi: 10.3390/healthcare9091203.
    • Combination of a 15-SNP Polygenic Risk Score and Classical Risk Factors for the Prediction of Breast Cancer Risk in Cypriot Women.
    • Yiangou K, Kyriacou K, Kakouri E, Marcou Y, Panayiotidis MI, Loizidou MA, Hadjisavvas A, Michailidou K.
    • Cancers (Basel). 2021 Sep 11;13(18):4568. doi: 10.3390/cancers13184568.
    • The prevalence of ataxia telangiectasia mutated (ATM) variants in patients with breast cancer patients: a systematic review and meta-analysis.
    • Moslemi M, Vafaei M, Khani P, Soheili M, Nedaeinia R, Manian M, Moradi Y, Sohrabi E.
    • Cancer Cell Int. 2021 Sep 8;21(1):474. doi: 10.1186/s12935-021-02172-8.
    • Transcriptome of Male Breast Cancer Matched with Germline Profiling Reveals Novel Molecular Subtypes with Possible Clinical Relevance.
    • Zelli V, Silvestri V, Valentini V, Bucalo A, Rizzolo P, Zanna I, Bianchi S, Coppa A, Giannini G, Cortesi L, Calistri D, Tibiletti MG, Fox SB, Fab K, Palli D, Ottini L.
    • Cancers (Basel). 2021 Sep 8;13(18):4515. doi: 10.3390/cancers13184515.
    • Germline Genetic Testing for Women With Breast Cancer: Shifting the Paradigm From Whom to Test to Whom NOT to Test.
    • Tung N, Desai N.
    • J Clin Oncol. 2021 Sep 7:JCO2101761. doi: 10.1200/JCO.21.01761. Epub ahead of print.

    Original research:

    Risk of Late-Onset Breast Cancer in Genetically Predisposed Women.

    Original research:

    Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.

    • Biological Role and Clinical Implications of microRNAs in BRCA Mutation Carriers.
    • Tommasi C, Pellegrino B, Boggiani D, Sikokis A, Michiara M, Uliana V, Bortesi B, Bonatti F, Mozzoni P, Pinelli S, Squadrilli A, Viani MV, Cassi D, Maglietta G, Meleti M, Musolino A.
    • Front Oncol. 2021 Sep 6;11:700853. doi: 10.3389/fonc.2021.700853.
    • Evaluating Polygenic Risk Scores for Breast Cancer in Women of African Ancestry.
    • Du Z, Gao G, Adedokun B, Ahearn T, Lunetta KL, Zirpoli G, Troester MA, Ruiz-Narváez EA, Haddad SA, PalChoudhury P, Figueroa J, John EM, Bernstein L, Zheng W, Hu JJ, Ziegler RG, Nyante S, Bandera EV, Ingles SA, Mancuso N, Press MF, Deming SL, Rodriguez-Gil JL, Yao S, Ogundiran TO, Ojengbe O, Bolla MK, Dennis J, Dunning AM, Easton DF, Michailidou K, Pharoah PDP, Sandler DP, Taylor JA, Wang Q, Weinberg CR, Kitahara CM, Blot W, Nathanson KL, Hennis A, Nemesure B, Ambs S, Sucheston-Campbell LE, Bensen JT, Chanock SJ, Olshan AF, Ambrosone CB, Olopade OI, Yarney J, Awuah B, Wiafe-Addai B, Conti DV; GBHS Study Team, Palmer JR, Garcia-Closas M, Huo D, Haiman CA.
    • J Natl Cancer Inst. 2021 Sep 4;113(9):1168-1176. doi: 10.1093/jnci/djab050.

    Commentary:

    Do Breast Cancer Risk Scores Work for You?

    • A polygenic-score-based approach for identification of gene-drug interactions stratifying breast cancer risk.
    • Marderstein AR, Kulm S, Peng C, Tamimi R, Clark AG, Elemento O.
    • Am J Hum Genet. 2021 Sep 2;108(9):1752-1764. doi: 10.1016/j.ajhg.2021.07.008. Epub 2021 Aug 6.

    News: Breast Cancer Genetic Risk Modified by Corticosteroid Use. (GenomeWeb)

    • "High-Risk Breast Cancer Screening in BRCA1/2 Carriers Leads to Early Detection and Improved Survival After a Breast Cancer Diagnosis".
    • Shraga S, Grinshpun A, Zick A, Kadouri L, Cohen Y, Maimon O, Adler-Levy Y, Zeltzer G, Granit A, Maly B, Carmon E, Meiner V, Sella T, Hamburger T, Peretz T.
    • Front Oncol. 2021 Sep 2;11:683656. doi: 10.3389/fonc.2021.683656.
    • COVID-19 Vaccination Induced Lymphadenopathy in a Specialized Breast Imaging Clinic in Israel: Analysis of 163 cases.
    • Faermann R, Nissan N, Halshtok-Neiman O, Shalmon A, Gotlieb M, Yagil Y, Samoocha D, Friedman E, Sklair-Levy M.
    • Acad Radiol. 2021 Sep;28(9):1191-1197. doi: 10.1016/j.acra.2021.06.003. Epub 2021 Jun 10.

    Commentary:

    Managing the Risk of Delayed Breast Cancer Screening Versus COVID-19 Vaccination Associated Axillary Lymphadenopathy.

    • Preliminary results of targeted sequencing of BRCA1 and BRCA2 in a cohort of breast cancer families: New insight into pathogenic variants in patients and at-risk relatives.
    • Saied MH, Elkaffash D, Fadl R, Haleem RA, Refeat A, Ibrahim I, Tahoun M, Elkayal A, Tayae E.
    • Mol Med Rep. 2021 Sep;24(3):678. doi: 10.3892/mmr.2021.12317. Epub 2021 Jul 23.
    • Prevalence of mutations in BRCA and homologous recombination repair genes and real-world standard of care of Asian patients with HER2-negative metastatic breast cancer starting first-line systemic cytotoxic chemotherapy: subgroup analysis of the global BREAKOUT study.
    • Koh SJ, Ohsumi S, Takahashi M, Fukuma E, Jung KH, Ishida T, Dai MS, Chang CH, Dalvi T, Walker G, Bennett J, O'Shaughnessy J, Balmaña J.
    • Breast Cancer. 2021 Aug 31. doi: 10.1007/s12282-021-01283-4. Epub ahead of print.
    • The importance of Ethnicity: are breast cancer Polygenic Risk Scores ready for women who are not of white European origin?
    • Evans DG, van Veen EM, Byers H, Roberts E, Howell A, Howell SJ, Harkness EF, Brentnall A, Cuzick J, Newman WG.
    • Int J Cancer. 2021 Aug 30. doi: 10.1002/ijc.33782. Epub ahead of print.
    • Male breast cancer: an update.
    • Fox S, Speirs V, Shaaban AM.
    • Virchows Arch. 2021 Aug 30. doi: 10.1007/s00428-021-03190-7. Epub ahead of print.
    • Review
    • A rare case of breast cancer in a transgender woman.
    • Sieberg R, Soriano K, Zuurbier R.
    • Radiol Case Rep. 2021 Aug 26;16(11):3285-3288. doi: 10.1016/j.radcr.2021.07.052.
    • Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.
    • Ruiz de Garibay G, Fernandez-Garcia I, Mazoyer S, Leme de Calais F, Ameri P, Martinez-Ruiz SH, Damiola F, Barjhoux L, Thomassen M, Andersen LVB, Herranz C, Mateo F, Palomero L, Espin R, Gómez A, García N, Jimenez D, Bonifaci N, Extremera AI, Castaño J, Raya A, Eyras E, Puente XS, Brunet J, Lázaro C, Gemo, Cimba, Radice P, Barnes DR, Antoniou AC, Spurdle AB, de la Hoya M, Baralle D, Barcellos-Hoff MH, Pujana MA.
    • Hum Mutat. 2021 Aug 22. doi: 10.1002/humu.24276. Epub ahead of print.
    • The value of clinical breast examination in a breast cancer surveillance program for women with germline BRCA1 or BRCA2 mutations.
    • Hettipathirana T, Macdonald C, Xie J, Moodie K, Michael C, Phillips KA.
    • Med J Aust. 2021 Aug 21. doi: 10.5694/mja2.51226. Epub ahead of print.
    • Germline PALB2 Mutation in High-Risk Chinese Breast and/or Ovarian Cancer Patients.
    • Kwong A, Shin VY, Ho CYS, Khalid A, Au CH, Chan KKL, Ngan HYS, Chan TL, Ma ESK.
    • Cancers (Basel). 2021 Aug 20;13(16):4195. doi: 10.3390/cancers13164195.
    • Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers.
    • Hamdi Y, Mighri N, Boujemaa M, Mejri N, Ben Nasr S, Ben Rekaya M, Messaoud O, Bouaziz H, Berrazega Y, Rachdi H, Jaidane O, Daoud N, Zribi A, Ayari J, El Benna H, Labidi S, Ben Hassouna J, Haddaoui A, Rahal K, Benna F, Mrad R, Ben Ahmed S, Boussen H, Boubaker S, Abdelhak S.
    • Front Oncol. 2021 Aug 20;11:674965. doi: 10.3389/fonc.2021.674965.
    • Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.
    • Herzog JS, Chavarri-Guerra Y, Castillo D, Abugattas J, Villarreal-Garza C, Sand S, Clague-Dehart J, Alvarez-Gómez RM, Wegman-Ostrosky T, Mohar A, Mora P, Del Toro-Valero A, Daneri-Navarro A, Rodriguez Y, Cruz-Correa M, Ashton-Prolla P, Alemar B, Mejia R, Gallardo L, Shaw R, Yang K, Cervantes A, Tsang K, Nehoray B, Barrera Saldana H, Neuhausen S, Weitzel JN.
    • NPJ Breast Cancer. 2021 Aug 19;7(1):107. doi: 10.1038/s41523-021-00317-6.
    • Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability.
    • Evans DG, van Veen EM, Woodward ER, Harkness EF, Ellingford JM, Bowers NL, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ.
    • Cancers (Basel). 2021 Aug 18;13(16):4154. doi: 10.3390/cancers13164154.
    • Breast imaging screening in a BRCA1-mutated lactating patient: A potential pitfall mimicking malignancy.
    • Casinelli A, Malavolta G, Caruso G, Capri O, Ballesio L.
    • Radiol Case Rep. 2021 Aug 14;16(10):3104-3108. doi: 10.1016/j.radcr.2021.07.019.
    • ASO Author Reflections: Prophylactic Nipple-Sparing Mastectomy as an Effective Risk-Reducing Strategy for BRCA Mutation Carriers.
    • Garstka M, Smith BL.
    • Ann Surg Oncol. 2021 Aug 13. doi: 10.1245/s10434-021-10588-9. Epub ahead of print.
    • Commentary
    • Study: Frequency of inherited mutations linked to breast cancer are similar in Black and white women.
    • [No author given]
    • FORCE. XRAY. 2021 Aug 13.

    Original research:

    Comparison of the Prevalence of Pathogenic Variants in Cancer Susceptibility Genes in Black Women and Non-Hispanic White Women With Breast Cancer in the United States.

    • Identification of BRCA2 Cis Double Heterozygous Breast Cancer Cases Using Whole Exome Sequencing: Phenotypic Expression and Impact on Personalized Oncology.
    • Hamdi Y, Boujemaa M, Mighri N, Mejri N, Jaidane O, Ben Nasr S, Bouaziz H, Hassouna JB, Zribi A, Berrazaga Y, Rachdi H, Daoud N, El Benna H, Labidi S, Haddaoui A, Rahal K, Benna F, Boussen H, Abdelhak S, Boubaker S.
    • Front Genet. 2021 Aug 12;12:674990. doi: 10.3389/fgene.2021.674990.
    • The Fanconi anemia pathway and Breast Cancer: A comprehensive review of clinical data.
    • Gianni P, Matenoglou E, Geropoulos G, Agrawal N, Adnani H, Zafeiropoulos S, Miyara SJ, Guevara S, Mumford JM, Molmenti EP, Giannis D.
    • Clin Breast Cancer. 2021 Aug 10:S1526-8209(21)00238-X. doi: 10.1016/j.clbc.2021.08.001. Epub ahead of print.
    • Review
    • Association of Genetic Testing Results with Mortality Among Women with Breast Cancer or Ovarian Cancer.
    • Kurian AW, Abrahamse P, Bondarenko I, Hamilton AS, Deapen D, Gomez SL, Morrow M, Berek JS, Hofer TP, Katz SJ, Ward KC.
    • J Natl Cancer Inst. 2021 Aug 9:djab151. doi: 10.1093/jnci/djab151. Epub ahead of print.
    • Risks and Function of Breast Cancer Susceptibility Alleles.
    • Torabi Dalivandan S, Plummer J, Gayther SA.
    • Cancers (Basel). 2021 Aug 5;13(16):3953. doi: 10.3390/cancers13163953.
    • The Investigation of Associations between TP53 rs1042522, BBC3 rs2032809, CCND1 rs9344, EGFR rs2227983 Polymorphisms and Breast Cancer Phenotype and Prognosis.
    • Bekampyte J, Bartnykaite A, Savukaityte A, Ugenskiene R, Korobeinikova E, Gudaitiene J, Juozaityte E.
    • Diagnostics (Basel). 2021 Aug 5;11(8):1419. doi: 10.3390/diagnostics11081419.
    • Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation.
    • Ribeiro Guerra M, Coignard J, Eon-Marchais S, Dondon MG, Le Gal D, Beauvallet J, Mebirouk N, Belotti M, Caron O, Gauthier-Villars M, Coupier I, Buecher B, Lortholary A, Fricker JP, Gesta P, Noguès C, Faivre L, Berthet P, Luporsi E, Delnatte C, Bonadona V, Maugard CM, Pujol P, Lasset C, Longy M, Bignon YJ, Adenis-Lavignasse C, Venat-Bouvet L, Dreyfus H, Gladieff L, Mortemousque I, Audebert-Bellanger S, Soubrier F, Giraud S, Lejeune-Dumoulin S, Limacher JM, Chiesa J, Fajac A, Floquet A, Eisinger F, Tinat J, Fert-Ferrer S, Colas C, Frebourg T, Damiola F, Barjhoux L, Cavaciuti E, Mazoyer S, Tardivon A, Lesueur F, Stoppa-Lyonnet D, Andrieu N.
    • Breast Cancer Res. 2021 Aug 3;23(1):79. doi: 10.1186/s13058-021-01456-1.
    • Generalizability of Polygenic Risk Scores for Breast Cancer Among Women With European, African, and Latinx Ancestry.
    • Liu C, Zeinomar N, Chung WK, Kiryluk K, Gharavi AG, Hripcsak G, Crew KD, Shang N, Khan A, Fasel D, Manolio TA, Jarvik GP, Rowley R, Justice AE, Rahm AK, Fullerton SM, Smoller JW, Larson EB, Crane PK, Dikilitas O, Wiesner GL, Bick AG, Terry MB, Weng C.
    • JAMA Netw Open. 2021 Aug 2;4(8):e2119084. doi: 10.1001/jamanetworkopen.2021.19084.

    Commentary:

    Polygenic Risk Scores for Breast Cancer-Can They Deliver on the Promise of Precision Medicine?

    Press: Polygenic Breast Cancer Risk Scores Strive to Overcome Racial Bias. (Medscape Medical News)

    • Genetic testing results in Slovenian male breast cancer cohort indicate the BRCA2 7806-2A > G founder variant could be associated with higher male breast cancer risk.
    • Strojnik K, Krajc M, Dragos VS, Stegel V, Novakovic S, Blatnik A.
    • Breast Cancer Res Treat. 2021 Aug;188(3):811-820. doi: 10.1007/s10549-021-06224-5. Epub 2021 Apr 23.
    • Optimization of prediction methods for risk assessment of pathogenic germline variants in the Japanese population.
    • Senda N, Kawaguchi-Sakita N, Kawashima M, Inagaki-Kawata Y, Yoshida K, Takada M, Kataoka M, Torii M, Nishimura T, Kawaguchi K, Suzuki E, Kataoka Y, Matsumoto Y, Yoshibayashi H, Yamagami K, Tsuyuki S, Takahara S, Yamauchi A, Shinkura N, Kato H, Moriguchi Y, Okamura R, Kan N, Suwa H, Sakata S, Mashima S, Yotsumoto F, Tachibana T, Tanaka M, Togashi K, Haga H, Yamada T, Kosugi S, Inamoto T, Sugimoto M, Ogawa S, Toi M.
    • Cancer Sci. 2021 Aug;112(8):3338-3348. doi: 10.1111/cas.14986. Epub 2021 Jun 28.
    • Clinicopathological Features of BRCA1/2 Mutation-Positive Breast Cancer.
    • Paik HJ, Jung YJ, Kim DI, Lee S, Jung CS, Kang SK, Kim JJ, Oh SY, Joo JH, Kim HY.
    • Oncology. 2021 [Aug];99(8):499-506. doi: 10.1159/000515790. Epub 2021 Jun 7.
    • Hereditary Breast and Ovarian Cancer Screening Syndrome Profile in Women Diagnosed with Breast Cancer from Paraná State Southwest.
    • Moura JB, Ghedin CC, Takakura ÉT, Scandolara TB, Rech D, Panis C.
    • Rev Bras Ginecol Obstet. 2021 Aug;43(8):616-621. English. doi: 10.1055/s-0041-1733998. Epub 2021 Sep 21.
    • The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.
    • Stella S, Martorana F, Manzella L, Vigneri P.
    • Transl Oncol. 2021 Aug;14(8):101104. doi: 10.1016/j.tranon.2021.101104. Epub 2021 May 13.

    Original research:

    Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

    Original research:

    A Population-Based Study of Genes Previously Implicated in Breast Cancer.

    • A Personal Breast Cancer Risk Stratification Model Using Common Variants and Environmental Risk Factors in Japanese Females.
    • Oze I, Ito H, Kasugai Y, Yamaji T, Kijima Y, Ugai T, Kasuga Y, Ouellette TK, Taniyama Y, Koyanagi YN, Imoto I, Tsugane S, Koriyama C, Iwasaki M, Matsuo K.
    • Cancers (Basel). 2021 Jul 28;13(15):3796. doi: 10.3390/cancers13153796.
    • Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.
    • Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg Å, Bozsik A, Brady A, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldés T, Caligo MA, Campbell I, Cassingham H, Lotte Christensen L, Cini G, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators, Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De Leeneer K, de Putter R, Del Valle J, Diez O, Chun Ding Y, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Gareth Evans D, Feliubadaló L, Fostira F, Frone M, Frost D, Gallagher D, Gehrig A, Giraud S, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gregory H, Gross E, Hahnen E, Hamann U, Hansen TVO, Hanson H, Hentschel J, Horvath J; KConFab Investigators; HEBON Investigators, Izatt L, Izquierdo A, James PA, Janavicius R, Birk Jensen U, Johannsson OT, John EM, Kramer G, Kroeldrup L, Kruse TA, Lautrup C, Lazaro C, Lesueur F, Lopez-Fernández A, Mai PL, Manoukian S, Matrai Z, Matricardi L, Maxwell KN, Mebirouk N, Meindl A, Montagna M, Monteiro AN, Morrison PJ, Muranen TA, Murray A, Nathanson KL, Neuhausen SL, Nevanlinna H, Nguyen-Dumont T, Niederacher D, Olah E, Olopade OI, Palli D, Parsons MT, Sokilde Pedersen I, Peissel B, Perez-Segura P, Peterlongo P, Petersen AH, Pinto P, Porteous ME, Pottinger C, Angel Pujana M, Radice P, Ramser J, Rantala J, Robson M, Rogers MT, Rønlund K, Rump A, María Sánchez de Abajo A, Shah PD, Sharif S, Side LE, Singer CF, Stadler Z, Steele L, Stoppa-Lyonnet D, Sutter C, Yen Tan Y, Teixeira MR, Teulé A, Thull DL, Tischkowitz M, Toland AE, Tommasi S, Toss A, Trainer AH, Tripathi V, Valentini V, van Asperen CJ, Venturelli M, Viel A, Vijai J, Walker L, Wang-Gohrke S, Wappenschmidt B, Whaite A, Zanna I, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L; Consortium of Investigators of Modifiers of BRCA1 and BRCA2.
    • J Natl Cancer Inst. 2021 Jul 28:djab147. doi: 10.1093/jnci/djab147. Epub ahead of print.
    • Breast cancer incidence and early diagnosis in a family history risk and prevention clinic: 33-year experience in 14,311 women.
    • Evans DG, Howell SJ, Gandhi A, van Veen EM, Woodward ER, Harvey J, Barr L, Wallace A, Lalloo F, Wilson M, Hurley E, Lim Y, Maxwell AJ, Harkness EF, Howell A.
    • Breast Cancer Res Treat. 2021 Jul 26. doi: 10.1007/s10549-021-06333-1. Epub ahead of print.
    • Risk of Late-Onset Breast Cancer in Genetically Predisposed Women.
    • Boddicker NJ, Hu C, Weitzel JN, Kraft P, Nathanson KL, Goldgar DE, Na J, Huang H, Gnanaolivu RD, Larson N, Yussuf A, Yao S, Vachon CM, Trentham-Dietz A, Teras L, Taylor JA, Scott CE, Sandler DP, Pesaran T, Patel AV, Palmer JR, Ong IM, Olson JE, O'Brien K, Neuhausen S, Martinez E, Ma H, Lindstrom S, Le Marchand L, Kooperberg C, Karam R, Hunter DJ, Hodge JM, Haiman C, Gaudet MM, Gao C, LaDuca H, Lacey JV, Dolinsky JS, Chao E, Carter BD, Burnside ES, Bertrand KA, Bernstein L, Auer PW, Ambrosone C, Yadav S, Hart SN, Polley EC, Domchek SM, Couch FJ.
    • J Clin Oncol. 2021 Jul 22:JCO2100531. doi: 10.1200/JCO.21.00531. Epub ahead of print.

    Commentary, Research report:

    Germline Genetic Testing for Women With Breast Cancer: Shifting the Paradigm From Whom to Test to Whom NOT to Test.

    Press: Older Women with Breast Cancer May Benefit from Genetic Testing (Clinical OMICs)

    • TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
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    • Polygenic Breast Cancer Risk for Women Veterans in the Million Veteran Program.
    • Minnier J, Rajeevan N, Gao L, Park B, Pyarajan S, Spellman P, Haskell SG, Brandt CA, Luoh SW.
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    • Prevalence and predictors of germline BRCA1 and BRCA2 mutations among young patients with breast cancer in Jordan.
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    • Prediction of BRCA Gene Mutation in Breast Cancer Based on Deep Learning and Histopathology Images.
    • Wang X, Zou C, Zhang Y, Li X, Wang C, Ke F, Chen J, Wang W, Wang D, Xu X, Xie L, Zhang Y.
    • Front Genet. 2021 Jul 20;12:661109. doi: 10.3389/fgene.2021.661109.
    • No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in BRCA1 or BRCA2 Mutation Families.
    • Imbert-Bouteille M, Corsini C, Picot MC, Mizrahy L, Akouete S, Huguet H, Thomas F, Geneviève D, Taourel P, Ychou M, Galibert V, Rideau C, Baudry K, Kogut Kubiak T, Coupier I, Hobeika R, Macary Y, Toledano A, Solassol J, Maalouf A, Daures JP, Pujol P.
    • Genes (Basel). 2021 Jul 20;12(7):1100. doi: 10.3390/genes12071100.
    • Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
    • Guglielmi C, Scarpitta R, Gambino G, Conti E, Bellè F, Tancredi M, Cervelli T, Falaschi E, Cosini C, Aretini P, Congregati C, Marino M, Patruno M, Pilato B, Spina F, Balestrino L, Tenedini E, Carnevali I, Cortesi L, Tagliafico E, Tibiletti MG, Tommasi S, Ghilli M, Vivanet C, Galli A, Caligo MA.
    • Int J Mol Sci. 2021 Jul 19;22(14):7693. doi: 10.3390/ijms22147693.
    • Germline and Somatic mutations in postmenopausal breast cancer patients.
    • Nagy TR, Maistro S, Encinas G, Katayama MLH, Pereira GFL, Gaburo-Júnior N, Franco LAM, Gouvêa ACRC, Diz MDPE, Leite LAS, Folgueira MAAK.
    • Clinics (Sao Paulo). 2021 Jul 16;76:e2837. doi: 10.6061/clinics/2021/e2837.
    • Results from London Regional Clinical Genetics services over a 5-year period on germline TP53 testing in women diagnosed with breast cancer at <30 years.
    • Garrett A, Talukdar S, Izatt L, Brady AF, Whyte S, Josephs KS, Shanmugasundaram M, Guillemot LS, Vakili D, Ey S, Ahmed M.
    • J Med Genet. 2021 Jul 15:jmedgenet-2021-107742. doi: 10.1136/jmedgenet-2021-107742. Epub ahead of print.
    • Genomic Risk Prediction for Breast Cancer in Older Women.
    • Lacaze P, Bakshi A, Riaz M, Orchard SG, Tiller J, Neumann JT, Carr PR, Joshi AD, Cao Y, Warner ET, Manning A, Nguyen-Dumont T, Southey MC, Milne RL, Ford L, Sebra R, Schadt E, Gately L, Gibbs P, Thompson BA, Macrae FA, James P, Winship I, McLean C, Zalcberg JR, Woods RL, Chan AT, Murray AM, McNeil JJ.
    • Cancers (Basel). 2021 Jul 14;13(14):3533. doi: 10.3390/cancers13143533.
    • Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
    • Bhai P, Levy MA, Rooney K, Carere DA, Reilly J, Kerkhof J, Volodarsky M, Stuart A, Kadour M, Panabaker K, Schenkel LC, Lin H, Ainsworth P, Sadikovic B.
    • Front Genet. 2021 Jul 13;12:698595. doi: 10.3389/fgene.2021.698595.
    • Mutational profile of hereditary breast and ovarian cancer - Establishing genetic testing guidelines in a developing country.
    • Krivokuca A, Mihajlovic M, Susnjar S, Spasojevic IB, Minic I, Popovic L, Brankovic-Magic M.
    • Curr Probl Cancer. 2021 Jul 10:100767. doi: 10.1016/j.currproblcancer.2021.100767. Epub ahead of print.
    • A competing risks model with binary time varying covariates for estimation of breast cancer risks in BRCA1 families.
    • Briollais L.
    • Stat Methods Med Res. 2021 Jul 7:9622802211008945. doi: 10.1177/09622802211008945. Epub ahead of print.
    • Performance of the IBIS/Tyrer-Cuzick model of breast cancer risk by race and ethnicity in the Women's Health Initiative.
    • Kurian AW, Hughes E, Simmons T, Bernhisel R, Probst B, Meek S, Caswell-Jin JL, John EM, Lanchbury JS, Slavin TP, Wagner S, Gutin A, Rohan TE, Shadyab AH, Manson JE, Lane D, Chlebowski RT, Stefanick ML.
    • Cancer. 2021 Jul 6. doi: 10.1002/cncr.33767. Epub ahead of print.
    • A novel germline BRCA1 mutation identified in a family with hereditary breast and ovarian cancer syndrome.
    • Wu Y, Pan X, Dou J, Zhang Q, Li Y, Sheng Y, Liu X.
    • Clin Med Insights Oncol. 2021 Jul 2;15:11795549211028569. doi: 10.1177/11795549211028569.
    • Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.
    • Ren M, Orozco A, Shao K, Albanez A, Ortiz J, Cao B, Wang L, Barreda L, Alvarez CS, Garland L, Wu D, Chung CC, Wang J, Frone M, Ralon S, Argueta V, Orozco R, Gharzouzi E, Dean M.
    • Breast Cancer Res Treat. 2021 Jul 1. doi: 10.1007/s10549-021-06305-5. Epub ahead of print.
    • Comparison of the Prevalence of Pathogenic Variants in Cancer Susceptibility Genes in Black Women and Non-Hispanic White Women With Breast Cancer in the United States.
    • Domchek SM, Yao S, Chen F, Hu C, Hart SN, Goldgar DE, Nathanson KL, Ambrosone CB, Haiman CA, Couch FJ, Polley EC, Palmer JR; CARRIERS Consortium.
    • JAMA Oncol. 2021 Jul 1;7(7):1045-1050. doi: 10.1001/jamaoncol.2021.1492.

    Research news: Study: Frequency of inherited mutations linked to breast cancer are similar in Black and white women. (FORCE. XRAY)

    Research news: UPenn Study Finds Similar Rates of Risk Mutations Among Black, White Breast Cancer Patients. (Precision Oncology News)

    • Bilateral Salpingo-Oophorectomy to Reduce Breast Cancer Risk in Women With Germline BRCA1 or BRCA2 Pathogenic Variants-Caution Needed.
    • Conduit C, Milne RL, Phillips KA.
    • JAMA Oncol. 2021 Jul 1. doi: 10.1001/jamaoncol.2021.2037. Epub ahead of print.
    • Letter, Comment

    Letter, Reply:

    Bilateral Salpingo-Oophorectomy to Reduce Breast Cancer Risk in Women With Germline BRCA1 or BRCA2 Pathogenic Variants-Caution Needed-Reply.

    Original research:

    Association of Risk-Reducing Salpingo-Oophorectomy With Breast Cancer Risk in Women With BRCA1 and BRCA2 Pathogenic Variants.

    • Molecular Features and Functional Implications of Germline Variants in Triple-Negative Breast Cancer.
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    Letter, Reply:

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    Bilateral Salpingo-Oophorectomy to Reduce Breast Cancer Risk in Women With Germline BRCA1 or BRCA2 Pathogenic Variants-Caution Needed.

    Letter, Reply:

    Bilateral Salpingo-Oophorectomy to Reduce Breast Cancer Risk in Women With Germline BRCA1 or BRCA2 Pathogenic Variants-Caution Needed-Reply.

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    Commentary:

    Commentary: Mismatch Repair Deficiency and Microsatellite Instability in Triple-Negative Breast Cancer: A Retrospective Study of 440 Patients.

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    •• Editorial:

    Which Genes for Hereditary Breast Cancer?

    •• Commentary:

    The ten genes for breast (and ovarian) cancer susceptibility.

    •• Commentary:

    The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.

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    •• Press: New Breast Cancer Mutation Findings Could Change Risk Management. (Medscape)

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    •• Editorial:

    Which Genes for Hereditary Breast Cancer?

    •• Commentary:

    The ten genes for breast (and ovarian) cancer susceptibility.

    •• Commentary:

    The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities.

    •• Press: Breast Cancer Risk Gene Associations Refined in Large-Scale Studies. (Precision Oncology News)

    •• Press: New Breast Cancer Mutation Findings Could Change Risk Management. (Medscape)

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    • [No author given]
    • FORCE. XRAY. 2021 Jan 28.

    Original research:

    Hereditary Ovarian Cancer Clinical Study Group. Breastfeeding and the risk of epithelial ovarian cancer among women with a BRCA1 or BRCA2 mutation.

    Blog post: Did Breastfeeding my Daughter Reduce my Ovarian Cancer Risk? (FORCE. Blog.)

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    Reply to S. A. Narod et al.

    Original research:

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    Letter, Comment:

    Re: ERCC3, a new ovarian cancer susceptibility gene?

    Letter, Reply:

    Response to letter entitled: Re: ERCC3 a new ovarian cancer susceptibility gene?

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    Research news: Study: Breastfeeding may lower risk of ovarian cancer in women with BRCA mutations. (FORCE. XRAY.)

    Blog post: Did Breastfeeding my Daughter Reduce my Ovarian Cancer Risk? (FORCE. Blog.)

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    Letter, Commentary:

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    Letter, Commentary:

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    • FORCE. XRAYS. 2020 Jun 6.

    Original research:

    Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2, and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer.

    • Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.
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    Research news: Secondary Tumor Risk in Pediatric Cancer Survivors Linked to Germline Variants, Treatment Type. (GenomeWeb)

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    • Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.
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    • J Natl Cancer Inst. 2020 May 19:djaa040. doi: 10.1093/jnci/djaa040. Epub ahead of print.

    Editorial:

    Genetic Testing May Help Reduce Breast Cancer Disparities for African American Women.

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    • Case report, Letter
    • A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.
    • Kaname T.
    • J Hum Genet. 2020 May 11. doi: 10.1038/s10038-020-0767-1. Epub ahead of print.

    Original research:

    Germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.

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    • Prediction of contralateral breast cancer: external validation of risk calculators in 20 international cohorts.
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    • Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History.
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    Press: Family History Insufficient to Determine High Risk of Gene-Linked CVD or Cancer. (Clinical OMICs)

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    • Multifocal breast cancers are more prevalent in BRCA2 versus BRCA1 mutation carriers.
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    • Frequency of mutations in BRCA genes and other candidate genes in high-risk probands or probands with breast or ovarian cancer in the Czech Republic.
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    • The RAD52-S346X variant reduces risk of developing breast cancer in carriers of pathogenic germline BRCA2 mutations.
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    • Recurrent Germline BRCA2 Gene Mutation in Lithuanian Family.
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    • Radiation treatment, ATM, BRCA1/2, and CHEK2*1100delC pathogenic variants, and risk of contralateral breast cancer.
    • Reiner AS, Robson ME, Mellemkjær L, Tischkowitz M, John EM, Lynch CF, Brooks JD, Boice JD, Knight JA, Teraoka SN, Liang X, Woods M, Shen R, Shore RE, Stram DO, Thomas DC, Malone KE, Bernstein L, Riaz N, Woodward W, Powell S, Goldgar D, Concannon P; WECARE Study Collaborative Group, Bernstein JL.
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    • [Breast cancer in six families from Tolima and Huila: BRCA1 3450del4 mutation].
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    • Breast cancer risk assessment in patients who test negative for a hereditary cancer syndrome.
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    • Am J Surg. 2020 Mar;219(3):430-433. doi: 10.1016/j.amjsurg.2019.10.015. Epub 2019 Oct 11.

    Commentary, Presentation:

    Discussion on: Breast cancer risk assessment in patients who test negative for a hereditary cancer syndrome.

    • BRCA1/BRCA2 Pathogenic Variant Breast Cancer: Treatment and Prevention Strategies.
    • Lee A, Moon BI, Kim TH.
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    • Review

    Introductory article:

    From Genetic Testing to Treatment and Prevention of BRCA-Related Breast Cancer.

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    • Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.
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    • The contribution of germline predisposition gene mutations to clinical subtypes of invasive breast cancer from a clinical genetic testing cohort.
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    • The spectrum of BRCA1 and BRCA2 mutations and clinicopathological characteristics in Chinese women with early-onset breast cancer.
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    • BRCA and PALB2 mutations in a cohort of male breast cancer with one bilateral case.
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    • Concordance of Hormone Receptor Status and BRCA1/2 Mutation Among Women With Synchronous Bilateral Breast Cancer.
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    • Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers in a large cohort of unselected Chinese breast cancer patients.
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    • Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2, and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer.
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    Research news: Study: What is the risk for contralateral breast cancer in women with an inherited BRCA1, BRCA2 or TP53 mutation? (FORCE XRAYS)

    • Germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.
    • Hata C, Nakaoka H, Xiang Y, Wang D, Yang A, Liu D, Liu F, Zou Q, Wei L, Zheng K, Inoue I, You H.
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    Commentary, Research review:

    A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors

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    • Clinicopathological Features of Patients with the BRCA1 c.5339T>C (p.Leu1780Pro) Variant.
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    • Effects of BRCA Germline Mutations on Triple-Negative Breast Cancer Prognosis.
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    • The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases.
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    • A Novel BRCA1 Gene Mutation Detected With Breast Cancer in a Vietnamese Family by Targeted Next-Generation Sequencing: A Case Report.
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    • Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.
    • Mavaddat N, Antoniou AC, Mooij TM, Hooning MJ, Heemskerk-Gerritsen BA; GENEPSO, Noguès C, Gauthier-Villars M, Caron O, Gesta P, Pujol P, Lortholary A; EMBRACE, Barrowdale D, Frost D, Evans DG, Izatt L, Adlard J, Eeles R, Brewer C, Tischkowitz M, Henderson A, Cook J, Eccles D; HEBON, van Engelen K, Mourits MJE, Ausems MGEM, Koppert LB, Hopper JL, John EM, Chung WK, Andrulis IL, Daly MB, Buys SS; kConFab Investigators, Benitez J, Caldes T, Jakubowska A, Simard J, Singer CF, Tan Y, Olah E, Navratilova M, Foretova L, Gerdes AM, Roos-Blom MJ, Van Leeuwen FE, Arver B, Olsson H, Schmutzler RK, Engel C, Kast K, Phillips KA, Terry MB, Milne RL, Goldgar DE, Rookus MA, Andrieu N, Easton DF; IBCCS; kConFab; BCFR.
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    • Prognosis of BRCA1/2-negative breast cancer patients with HBOC risk factors compared with sporadic breast cancer patients without HBOC risk factors.
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    Press: Polygenic Modifiers of Pathogenic Genes May Refine Disease Risk Prediction. (GenomeWeb)

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    Editorial:

    Toward Risk-Stratified Breast Cancer Screening: Considerations for Changes in Screening Guidelines.

    Editorial:

    Breast cancer screening programs: does one risk fit all?

    Letter, Comment:

    Determining the Appropriate Risk-Adapted Screening Age for Familial Breast Cancer.

    Letter, Reply:

    Determining the Appropriate Risk-Adapted Screening Age for Familial Breast Cancer-Reply.

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    Press: Men at High Risk for Breast Cancer May Benefit From Screening. (Medscape Oncology)

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    • J Cancer. 2019 Aug 8;10(19):4647-4654. doi: 10.7150/jca.33857. eCollection 2019.
    • Functional analysis of clinical BARD1 germline variants.
    • Toh MR, Chong ST, Chan SH, Low CE, Ishak NDB, Lim JQ, Courtney E, Ngeow J.
    • Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4). pii: a004093. doi: 10.1101/mcs.a004093. Print 2019 Aug.
    • BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors.
    • Lee A, Mavaddat N, Wilcox AN, Cunningham AP, Carver T, Hartley S, Babb de Villiers C, Izquierdo A, Simard J, Schmidt MK, Walter FM, Chatterjee N, Garcia-Closas M, Tischkowitz M, Pharoah P, Easton DF, Antoniou AC.
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    • Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
    • Stradella A, Del Valle J, Rofes P, Feliubadaló L, Grau Garces È, Velasco À, González S, Vargas G, Izquierdo Á, Campos O, Tornero E, Navarro M, Balmaña-Gelpi J, Capellá G, Pineda M, Brunet J, Lázaro C.
    • J Med Genet. 2019 Aug;56(8):521-525. doi: 10.1136/jmedgenet-2018-105700. Epub 2018 Dec 22.
    • MRI versus mammography for breast cancer screening in women with familial risk (FaMRIsc): a multicentre, randomised, controlled trial.
    • Saadatmand S, Geuzinge HA, Rutgers EJT, Mann RM, de Roy van Zuidewijn DBW, Zonderland HM, Tollenaar RAEM, Lobbes MBI, Ausems MGEM, van 't Riet M, Hooning MJ, Mares-Engelberts I, Luiten EJT, Heijnsdijk EAM, Verhoef C, Karssemeijer N, Oosterwijk JC, Obdeijn IM, de Koning HJ, Tilanus-Linthorst MMA; FaMRIsc study group.
    • Lancet Oncol. 2019 Aug;20(8):1136-1147. doi: 10.1016/S1470-2045(19)30275-X. Epub 2019 Jun 17.

    Comment:

    Underdiagnosis is the main challenge in breast cancer screening.

    Letter, Commentary:

    MRI versus mammography for breast cancer screening in women with familial risk (FaMRIsc).

    Research news: MRI or mammograms for detecting breast cancer in families with unknown genetic mutations? (FORCE. XRAYS.)

    • Molecular characteristics of breast cancer according to clinicopathological factors.
    • Huszno J, Kolosza Z.
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    • The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients.
    • Bernstein-Molho R, Barnes-Kedar I, Ludman MD, Reznik G, Feldman HB, Samra NN, Eilat A, Peretz T, Peretz LP, Shapira T, Magal N, Kalis ML, Yerushalmi R, Vinkler C, Liberman S, Basel-Salmon L, Shohat M, Levy-Lahad E, Friedman E, Bazak L, Goldberg Y.
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    • In BRCA mutation carriers breast conserving surgery may not be the best choice.
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    • Breast Cancer Res Treat. 2019 Jul 27. doi: 10.1007/s10549-019-05373-y. [Epub ahead of print]
    • Letter, Commentary

    Original research:

    Risk of ipsilateral breast tumor recurrence in primary invasive breast cancer following breast-conserving surgery with BRCA1 and BRCA2 mutation in China.

    • Clinical Management of Patients at Risk for Hereditary Breast Cancer with Variants of Uncertain Significance in the Era of Multigene Panel Testing.
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    • CpG promoter hypo-methylation and up-regulation of microRNA-190b in hormone receptor-positive breast cancer.
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    • Oncotarget. 2019 Jul 23;10(45):4664-4678. doi: 10.18632/oncotarget.27083. eCollection 2019 Jul 23.
    • Assessing the effectiveness of the National Comprehensive Cancer Network genetic testing guidelines in identifying African American breast cancer patients with deleterious genetic mutations.
    • Ademuyiwa FO, Salyer P, Ma Y, Fisher S, Colditz G, Weilbaecher K, Bierut LJ.
    • Breast Cancer Res Treat. 2019 Jul 19. doi: 10.1007/s10549-019-05359-w. [Epub ahead of print]
    • The role of BRCA1/2 in hereditary and familial breast and ovarian cancers.
    • Hawsawi YM, Al-Numair NS, Sobahy TM, Al-Ajmi AM, Al-Harbi RM, Baghdadi MA, Oyouni AA, Alamer OM.
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    • Benign breast disease increases breast cancer risk independent of underlying familial risk profile: Findings from a Prospective Family Study Cohort.
    • Zeinomar N, Phillips KA, Daly MB, Milne RL, Dite GS, MacInnis RJ, Liao Y, Kehm RD, Knight JA, Southey MC, Chung WK, Giles GG, McLachlan SA, Friedlander ML, Weideman PC, Glendon G, Nesci S; kConFab Investigators, Andrulis IL, Buys SS, John EM, Hopper JL, Terry MB.
    • Int J Cancer. 2019 Jul 15;145(2):370-379. doi: 10.1002/ijc.32112. Epub 2019 Feb 20.
    • Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy.
    • Rizzolo P, Zelli V, Silvestri V, Valentini V, Zanna I, Bianchi S, Masala G, Spinelli AM, Tibiletti MG, Russo A, Varesco L, Giannini G, Capalbo C, Calistri D, Cortesi L, Viel A, Bonanni B, Azzollini J, Manoukian S, Montagna M, Peterlongo P, Radice P, Palli D, Ottini L.
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    • BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.
    • Concolino P, Gelli G, Rizza R, Costella A, Scambia G, Capoluongo E.
    • Int J Mol Sci. 2019 Jul 12;20(14). pii: E3442. doi: 10.3390/ijms20143442.
    • One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.
    • Fostira F, Kostantopoulou I, Apostolou P, Papamentzelopoulou MS, Papadimitriou C, Faliakou E, Christodoulou C, Boukovinas I, Razis E, Tryfonopoulos D, Barbounis V, Vagena A, Vlachos IS, Kalfakakou D, Fountzilas G, Yannoukakos D.
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    • A systematic review of the international prevalence of BRCA mutation in breast cancer.
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    • Clin Epidemiol. 2019 Jul 11;11:543-561. doi: 10.2147/CLEP.S206949. eCollection 2019.
    • Mammographic screening in male patients at high risk for breast cancer: is it worth it?
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    • New germline BRCA2 gene variant in the Tuvinian Mongol breast cancer patients.
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    • Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan.
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    • Low Prevalence of the Four Common Colombian Founder Mutations in BRCA1 and BRCA2 in Early-Onset and Familial Afro-Colombian Patients with Breast Cancer.
    • Vargas E, Torres Lopez DM, de Deugd R, Gil F, Nova A, Mora L, Viaña LF, Hernandez JD, Bruges R, Hamann U.
    • Oncologist. 2019 Jul;24(7):e475-e479. doi: 10.1634/theoncologist.2018-0346. Epub 2018 Dec 12.
    • Performance measures of magnetic resonance imaging plus mammography in the High Risk Ontario Breast Screening Program.
    • Chiarelli AM, Blackmore KM, Muradali D, Done SJ, Majpruz V, Weerasinghe A, Mirea L, Eisen A, Rabeneck L, Warner E.
    • J Natl Cancer Inst. 2019 Jun 24. pii: djz079. doi: 10.1093/jnci/djz079. [Epub ahead of print]

    Editorial:

    Breast cancer screening in high-risk women: is MRI alone enough?

    • Annual versus biennial screening: diagnostic accuracy among concurrent cohorts within the Ontario Breast Screening Program.
    • Chiarelli AM, Blackmore KM, Mirea L, Done SJ, Majpruz V, Weerasinghe A, Rabeneck L, Muradali D.
    • J Natl Cancer Inst. 2019 Jun 24. pii: djz131. doi: 10.1093/jnci/djz131. [Epub ahead of print]
    • BRCA mutation characteristics in a series of index cases of breast cancer selected independent of family history.
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    • Breast J. 2019 Jun 22. doi: 10.1111/tbj.13400. [Epub ahead of print]
    • Rate of BRCA mutation in patients tested under NCCN genetic testing criteria.
    • Beck AC, Yuan H, Liao J, Imperiale P, Shipley K, Erdahl LM, Sugg SL, Weigel RJ, Lizarraga IM.
    • Am J Surg. 2019 Jun 19. pii: S0002-9610(19)30247-8. doi: 10.1016/j.amjsurg.2019.06.012. [Epub ahead of print]
    • Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer.
    • Weitzel JN, Neuhausen SL, Adamson A, Tao S, Ricker C, Maoz A, Rosenblatt M, Nehoray B, Sand S, Steele L, Unzeitig G, Feldman N, Blanco AM, Hu D, Huntsman S, Castillo D, Haiman C, Slavin T, Ziv E.
    • Cancer. 2019 Jun 17. doi: 10.1002/cncr.32083. [Epub ahead of print]

    Editorial:

    Genetic testing for breast cancer in the Hispanic community.

    • Reproductive factors associated with breast cancer risk in Li-Fraumeni syndrome.
    • Khincha PP, Best AF, Fraumeni JF Jr, Loud JT, Savage SA, Achatz MI.
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    • Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso.
    • Sagna T, Bonora E, Ouedraogo MNL, Fusco D, Zoure AA, Bisseye C, Djigma F, Kafando JG, Zongo N, Douamba Z, Obiri-Yeboah D, Turchetti D, Pietra V, Lompo OM, Ouedraogo C, Seri M, Simpore J.
    • Biomol Concepts. 2019 Jun 11;10(1):120-127. doi: 10.1515/bmc-2019-0015.
    • The Spectrum of Mutations Predisposing to Familial Breast Cancer in Poland.
    • Cybulski C, Kluźniak W, Huzarski T, Wokołorczyk D, Kashyap A, Rusak B, Stempa K, Gronwald J, Szymiczek A, Bagherzadeh M, Jakubowska A, Dębniak T, Lener M, Rudnicka H, Szwiec M, Jarkiewicz-Tretyn J, Stawicka M, Domagała P, Narod SA, Lubiński J, Akbari MR; Polish Hereditary Breast Cancer Consortium.
    • Int J Cancer. 2019 Jun 7. doi: 10.1002/ijc.32492. [Epub ahead of print]
    • Germline variants and somatic mutation signatures of breast cancer across populations of African and European ancestry in the US and Nigeria.
    • Wang S, Pitt JJ, Zheng Y, Yoshimatsu TF, Gao G, Sanni A, Oluwasola O, Ajani M, Fitzgerald D, Odetunde A, Khramtsova G, Hurley I, Popoola A, Falusi A, Ogundiran T, Obafunwa J, Ojengbede O, Ibrahim N, Barretina J, White KP, Huo D, Olopade O.
    • Int J Cancer. 2019 Jun 7. doi: 10.1002/ijc.32498. [Epub ahead of print]
    • Differential Profile of BRCA1 vs. BRCA2 Mutated Families: A Characterization of the Main Differences and Similarities in Patients.
    • Fernandes GC, Felicio PS, Michelli RAD, Coelho AS, Scapulatempo-Neto C, Palmero EI.
    • Asian Pac J Cancer Prev. 2019 Jun 1;20(6):1655-1660. doi: 10.31557/APJCP.2019.20.6.1655.
    • [Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance.]
    • Kleiblová P, Stolařová L, Křížová K, Lhota F, Hojný J, Zemánková P, Havránek O, Vočka M, Černá M, Lhotová K, Borecká M, Janatová M, Soukupová J, Ševčík J, Zimovjanová M, Kotlas J, Panczak A, Veselá K, Červenková J, Schneiderová M, Burócziová M, Burdová K, Stránecký V, Foretová L, Macháčková E, Tavandzis S, Kmoch S, Macůrek L, Kleibl Z.
    • Klin Onkol. 2019 Summer;32(Supplementum2):36-50. doi: 10.14735/amko2019S36.
    • Risk of ipsilateral breast tumor recurrence in primary invasive breast cancer following breast-conserving surgery with BRCA1 and BRCA2 mutation in China.
    • Cao W, Xie Y, He Y, Li J, Wang T, Fan Z, Fan T, Ouyang T.
    • Breast Cancer Res Treat. 2019 Jun;175(3):749-754. doi: 10.1007/s10549-019-05199-8. Epub 2019 Mar 20.

    Letter, Commentary:

    In BRCA mutation carriers breast conserving surgery may not be the best choice.

    • Oophorectomy and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers.
    • Kotsopoulos J, Lubinski J, Lynch HT, Tung N, Armel S, Senter L, Singer CF, Fruscio R, Couch F, Weitzel JN, Karlan B, Foulkes WD, Moller P, Eisen A, Ainsworth P, Neuhausen SL, Olopade O, Sun P, Gronwald J, Narod SA; Hereditary Breast Cancer Clinical Study Group.
    • Breast Cancer Res Treat. 2019 Jun;175(2):443-449. doi: 10.1007/s10549-019-05162-7. Epub 2019 Feb 12.
    • p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients.
    • Fortuno C, Pesaran T, Dolinsky J, Yussuf A, McGoldrick K, Kho PF, James PA, Spurdle AB.
    • Cancer Genet. 2019 Jun;235-236:21-27. doi: 10.1016/j.cancergen.2019.05.002. Epub 2019 Jun 6.
    • Molecular comparison of interval and screen-detected breast cancers.
    • Cheasley D, Li N, Rowley SM, Elder K, Mann GB, Loi S, Savas P, Goode DL, Kader T, Zethoven M, Semple T, Fox SB, Pang JM, Byrne D, Devereux L, Nickson C, Procopio P, Lee G, Hughes S, Saunders H, Fujihara KM, Kuykhoven K, Connaughton J, James PA, Gorringe KL, Campbell IG.
    • J Pathol. 2019 Jun;248(2):243-252. doi: 10.1002/path.5251. Epub 2019 Mar 8.
    • Hereditary Cancer Syndromes-A Primer on Diagnosis and Management: Part 1: Breast-Ovarian Cancer Syndromes.
    • Samadder NJ, Giridhar KV, Baffy N, Riegert-Johnson D, Couch FJ.
    • Mayo Clin Proc. 2019 Jun;94(6):1084-1098. doi: 10.1016/j.mayocp.2019.02.017.
    • Male breast cancer: Specific biological characteristics and survival in a Portuguese cohort.
    • André S, Pereira T, Silva F, Machado P, Vaz F, Aparício M, Silva GL, Pinto AE.
    • Mol Clin Oncol. 2019 Jun;10(6):644-654. doi: 10.3892/mco.2019.1841. Epub 2019 Apr 8.
    • Clinical characteristics and outcomes in elderly women with BRCA1 and BRCA2 mutations.
    • Salyer C, Kobelka C, Barrie A, Weintraub MR, Powell CB.
    • Gynecol Oncol. 2019 May 31. pii: S0090-8258(19)31261-2. doi: 10.1016/j.ygyno.2019.05.017. [Epub ahead of print]
    • Breast Density in a Contemporary Cohort of Women With Ductal Carcinoma In Situ (DCIS).
    • Gooch JC, Chun J, Kaplowitz E, Kurz E, Guth A, Lee J, Schnabel F.
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    • Randomized Double-Blind Placebo-Controlled Biomarker Modulation Study of Vitamin D in Premenopausal Women at High Risk for Breast Cancer (SWOG S0812).
    • Crew KD, Anderson GL, Hershman DL, Terry MB, Tehranifar P, Lew DL, Yee M, Brown EA, Kairouz SS, Kuwajerwala N, Bevers TB, Doster JE, Zarwan C, Kruper L, Minasian L, Ford LG, Arun BK, Neuhouser ML, Goodman GE, Brown PH.
    • Cancer Prev Res (Phila). 2019 May 28. pii: canprevres.0444.2018. doi: 10.1158/1940-6207.CAPR-18-0444. [Epub ahead of print]
    • Characterization of BRCA1 and BRCA2 genetic variants in a cohort of Bahraini breast cancer patients using next-generation sequencing.
    • Al Hannan F, Keogh MB, Taha S, Al Buainain L.
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    • Breast cancer histologic subtypes show excess familial clustering.
    • Henry NL, Cannon-Albright LA.
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    • Prevalence and Clinical Impact of TP53 Germline Mutations in Chinese Women with Breast Cancer.
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    • Breast Cancer Susceptibility—Towards Individualised Risk Prediction.
    • Lakeman IMM, Schmidt MK, van Asperen CJ, Devilee P.
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    • 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.
    • Breast cancer risk in BRCA1/2 mutation carriers and non-carriers under prospective intensified surveillance.
    • Engel C, Fischer C, Zachariae S, Bucksch K, Rhiem K, Giesecke J, Herold N, Wappenschmidt B, Hübbel V, Maringa M, Reichstein-Gnielinski S, Hahnen E, Bartram CR, Dikow N, Schott S, Speiser D, Horn D, Fallenberg EM, Kiechle M, Quante AS, Vesper AS, Fehm T, Mundhenke C, Arnold N, Leinert E, Just W, Siebers-Renelt U, Weigel S, Gehrig A, Wöckel A, Schlegelberger B, Pertschy S, Kast K, Wimberger P, Briest S, Loeffler M, Bick U, Schmutzler RK; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC).
    • Int J Cancer. 2019 May 13. doi: 10.1002/ijc.32396. [Epub ahead of print]
    • Performance of Screening Breast MRI across Women with Different Elevated Breast Cancer Risk Indications.
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    • Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer.
    • Diop JPD, Diallo RN, Bourdon-Huguenin V, Dem A, Diouf D, Dieng MM, Ba SA, Dia Y, Ka S, Mbengue B, Thiam A, Faye O, Diop PA, Sobol H, Dieye A.
    • BMC Med Genet. 2019 May 6;20(1):73. doi: 10.1186/s12881-019-0814-y.
    • Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.
    • Kleiblova P, Stolarova L, Krizova K, Lhota F, Hojny J, Zemankova P, Havranek O, Vocka M, Cerna M, Lhotova K, Borecka M, Janatova M, Soukupova J, Sevcik J, Zimovjanova M, Kotlas J, Panczak A, Vesela K, Cervenkova J, Schneiderova M, Burocziova M, Burdova K, Stranecky V, Foretova L, Machackova E, Tavandzis S, Kmoch S, Macurek L, Kleibl Z.
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    • Who should get a contralateral prophylactic mastectomy for breast cancer?
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    • Case report, review
    • Interaction between genetic ancestry and common breast cancer susceptibility variants in Colombian women.
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    • The influence of reproductive factors on breast cancer risk in women with pathogenic mutations.
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    • J BUON. 2019 May-Jun;24(3):1067-1074.
    • Breast cancer risk associated with BRCA1/2 variants in the Pakistani population.
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    • Differences between screen-detected and interval breast cancers among BRCA mutation carriers.
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    • High-risk breast cancer surveillance with MRI: 10-year experience from the German consortium for hereditary breast and ovarian cancer.
    • Bick U, Engel C, Krug B, Heindel W, Fallenberg EM, Rhiem K, Maintz D, Golatta M, Speiser D, Rjosk-Dendorfer D, Lämmer-Skarke I, Dietzel F, Schäfer KWF, Leinert E, Weigel S, Sauer S, Pertschy S, Hofmockel T, Hagert-Winkler A, Kast K, Quante A, Meindl A, Kiechle M, Loeffler M, Schmutzler RK; German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC).
    • Breast Cancer Res Treat. 2019 May;175(1):217-228. doi: 10.1007/s10549-019-05152-9. Epub 2019 Feb 6.
    • Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients.
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    • Non-BRCA1/2 Variants Detected in a High-Risk Chilean Cohort With a History of Breast and/or Ovarian Cancer.
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    • Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics - the Cohort study of TP53 carrier early onset breast cancer (COPE study).
    • Packwood K, Martland G, Sommerlad M, Shaw E, Moutasim K, Thomas G, Bateman A, Jones L, Haywood L, Evans DG, Birch JM, Alsalmi OA, Henderson A, Poplawski N, Eccles DM.
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    • Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
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    • The Burden of Breast Cancer Predisposition Variants Across The Age Spectrum Among 10 000 Patients.
    • Chavarri-Guerra Y, Hendricks CB, Brown S, Marcum C, Hander M, Segota ZE, Hake C, Sand S, Slavin TP, Hurria A, Soto-Perez-de-Celis E, Nehoray B, Blankstein KB, Blazer KR, Weitzel JN; Clinical Cancer Genomics Community Research Network.
    • J Am Geriatr Soc. 2019 Apr 23. doi: 10.1111/jgs.15937. [Epub ahead of print]
    • Hyaline fibrous involution of breast lobules: a histologic finding associated with germline BRCA mutation.
    • Lee HE, Arshad M, Brahmbhatt RD, Hoskin TL, Winham SJ, Frost MH, Radisky DC, Denison LA, Degnim AC, Visscher DW.
    • Mod Pathol. 2019 Apr 17. doi: 10.1038/s41379-019-0217-9. [Epub ahead of print]
    • Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.
    • Wang J, Li W, Shi Y, Huang Y, Sun T, Tang L, Lu Q, Lei Q, Liao N, Jin F, Li H, Huang T, Qian J, Pang D, Wang S, Fan P, Wu X, Lin Y, Qin H, Xu B.
    • Cancer Med. 2019 Apr 13. doi: 10.1002/cam4.2093. [Epub ahead of print]
    • Five screening-detected breast cancer cases in initially disease-free BRCA1 or BRCA2 mutation carriers.
    • Shimada S, Yoshida R, Nakashima E, Kitagawa D, Gomi N, Horii R, Takeuchi S, Ashihara Y, Kita M, Akiyama F, Ohno S, Saito M, Arai M.
    • Breast Cancer. 2019 Apr 12. doi: 10.1007/s12282-019-00971-6. [Epub ahead of print]
    • Contribution of BRCA1 5382insC mutation in triple negative breast cancer in Tunisia.
    • Mahfoudh W, Bettaieb I, Ghedira R, Snoussi K, Bouzid N, Klayech Z, Gabbouj S, Remadi Y, Hassen E, Bouaouina N, Zakhama A.
    • J Transl Med. 2019 Apr 11;17(1):123. doi: 10.1186/s12967-019-1873-8.
    • Prognostic Significance of CHEK2 Mutation in Progression of Breast Cancer.
    • Ansari N, Shahrabi S, Khosravi A, Shirzad R, Rezaeean H.
    • Lab Med. 2019 Apr 11. pii: lmz009. doi: 10.1093/labmed/lmz009. [Epub ahead of print]
    • Review
    • Quick Uptakes: Taking the Uncertainty Out of Interpreting BRCA Variants.
    • Voelker R.
    • JAMA. 2019 Apr 9;321(14):1340-1341. doi: 10.1001/jama.2019.0967.

    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]

    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]
    • Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.
    • Shahi RB, De Brakeleer S, Caljon B, Pauwels I, Bonduelle M, Joris S, Fontaine C, Vanhoeij M, Van Dooren S, Teugels E, De Grève J.
    • BMC Cancer. 2019 Apr 4;19(1):313. doi: 10.1186/s12885-019-5494-7.
    • Identifying a BRCA2 c.5722_5723del mutation in a Han-Chinese family with breast cancer.
    • Guo Y, Wang P, Li X, Zhu S, Xu H, Li S, Deng H, Yuan L.
    • Biosci Rep. 2019 Apr 2. pii: BSR20182471. doi: 10.1042/BSR20182471. [Epub ahead of print]
    • Metachronous Contralateral Male Breast Cancer: Case Report and Literature Review.
    • O'Leary TR, Shriver CD, Wind G.
    • Mil Med. 2019 Apr 2. pii: usz049. doi: 10.1093/milmed/usz049. [Epub ahead of print]
    • Case report, Review
    • The GPRC5A frameshift variant c.183del is not associated with increased breast cancer risk in BRCA1 mutation carriers.
    • Klaschik K, Hauke J, Neidhardt G, Tränkle C, Surowy HM, Heilmann-Heimbach S, Rappl G, Mangold E, Arnold N, Niederacher D, Sutter C, Burwinkel B, Engel C, Wappenschmidt B, Meindl A, Ernst C, Weber-Lassalle K, Weber-Lassalle N, Schmidt S, Borde J, Schmutzler RK, Hahnen E, Pohl-Rescigno E.
    • Int J Cancer. 2019 Apr 1;144(7):1761-1763. doi: 10.1002/ijc.32016. Epub 2019 Jan 6.
    • Letter

    Letter, Reply:

    Response to: The GPRC5A frameshift variant c.183del is not associated with increased breast cancer risk in BRCA1 mutation carriers.

    • Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.
    • Qian F, Wang S, Mitchell J, McGuffog L, Barrowdale D, Leslie G, Oosterwijk JC, Chung WK, Evans DG, Engel C, Kast K, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Arun BK, Ausems MGEM, Azzollini J, Barouk-Simonet E, Barwell J, Belotti M, Benitez J, Berger A, Borg A, Bradbury AR, Brunet J, Buys SS, Caldes T, Caligo MA, Campbell I, Caputo SM, Chiquette J, Claes KBM, Margriet Collée J, Couch FJ, Coupier I, Daly MB, Davidson R, Diez O, Domchek SM, Donaldson A, Dorfling CM, Eeles R, Feliubadaló L, Foretova L, Fowler J, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Glendon G, Godwin AK, Gómez Garcia EB, Gronwald J, Hahnen E, Hamann U, Henderson A, Hendricks CB, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Izquierdo Á, Jakubowska A, Kaczmarek K, Kang E, Karlan BY, Kets CM, Kim SW, Kim Z, Kwong A, Laitman Y, Lasset C, Hyuk Lee M, Won Lee J, Lee J, Lester J, Lesueur F, Loud JT, Lubinski J, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Morrison PJ, Mouret-Fourme E, Nathanson KL, Neuhausen SL, Nevanlinna H, Niederacher D, Nielsen FC, Nussbaum RL, Offit K, Olah E, Ong KR, Ottini L, Park SK, Peterlongo P, Pfeiler G, Phelan CM, Poppe B, Pradhan N, Radice P, Ramus SJ, Rantala J, Robson M, Rodriguez GC, Schmutzler RK, Hutten Selkirk CG, Shah PD, Simard J, Singer CF, Sokolowska J, Stoppa-Lyonnet D, Sutter C, Yen Tan Y, Teixeira RM, Teo SH, Terry MB, Thomassen M, Tischkowitz M, Toland AE, Tucker KM, Tung N, van Asperen CJ, van Engelen K, van Rensburg EJ, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Yannoukakos D; GEMO Study Collaborators; HEBON; EMBRACE, Greene MH, Rookus MA, Easton DF, Chenevix-Trench G, Antoniou AC, Goldgar DE, Olopade OI, Rebbeck TR, Huo D.
    • J Natl Cancer Inst. 2019 Apr 1;111(4):350-364. doi: 10.1093/jnci/djy132.
    • Risk factors for metachronous contralateral breast cancer: A systematic review and meta-analysis.
    • Akdeniz D, Schmidt MK, Seynaeve CM, McCool D, Giardiello D, van den Broek AJ, Hauptmann M, Steyerberg EW, Hooning MJ.
    • Breast. 2019 Apr;44:1-14. doi: 10.1016/j.breast.2018.11.005. Epub 2018 Dec 6.
    • Review/Meta-Analysis
    • Age-specific risks of incident, contralateral and ipsilateral breast cancer among 1776 Polish BRCA1 mutation carriers.
    • Lubinski J, Huzarski T, Gronwald J, Cybulski C, Debniak T, Sun P, Kim SJ, Kotsopoulos J, Narod SA.
    • Breast Cancer Res Treat. 2019 Apr;174(3):769-774. doi: 10.1007/s10549-018-05076-w. Epub 2019 Jan 5.
    • Clinical findings and outcomes of MRI staging of breast cancer in a diverse population.
    • Raghavendra A, Wecsler J, Ji L, Sheth P, Ricker C, Church T, Sposto R, Lang J, Sener S, Larsen L, Tripathy D.
    • Breast Cancer Res Treat. 2019 Apr;174(2):315-324. doi: 10.1007/s10549-018-05084-w. Epub 2018 Dec 12.
    • Review
    • The estrogen receptor-alpha S118P variant does not affect breast cancer incidence or response to endocrine therapies.
    • Button B, Croessmann S, Chu D, Rosen DM, Zabransky DJ, Dalton WB, Cravero K, Kyker-Snowman K, Waters I, Karthikeyan S, Christenson ES, Donaldson J, Hunter T, Dennison L, Ramin C, May B, Roden R, Petry D, Armstrong DK, Visvanathan K, Park BH.
    • Breast Cancer Res Treat. 2019 Apr;174(2):401-412. doi: 10.1007/s10549-018-05087-7. Epub 2018 Dec 17.
    • TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort.
    • Bakhuizen JJ, Hogervorst FB, Velthuizen ME, Ruijs MW, van Engelen K, van Os TA, Gille JJ, Collée M, van den Ouweland AM, van Asperen CJ, Kets CM, Mensenkamp AR, Leter EM, Blok MJ, de Jong MM, Ausems MG.
    • Fam Cancer. 2019 Apr;18(2):273-280. doi: 10.1007/s10689-018-00118-0.
    • BRCA1/2 mutation spectrum in Chinese early-onset breast cancer.
    • Shen M, Yang L, Lei T, Xiao L, Li L, Zhang P, Feng W, Ye F, Bu H.
    • Transl Cancer Res. 2019 Apr;8(2):483-490. doi: 10.21037/tcr.2019.03.02.
    • Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.
    • Nurmi A, Muranen TA, Pelttari LM, Kiiski JI, Heikkinen T, Lehto S, Kallioniemi A, Schleutker J, Bützow R, Blomqvist C, Aittomäki K, Nevanlinna H.
    • Int J Cancer. 2019 Mar 30. doi: 10.1002/ijc.32309. [Epub ahead of print]
    • Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels.
    • Feliubadaló L, López-Fernández A, Pineda M, Díez O, Del Valle J, Gutiérrez-Enríquez S, Teulé A, González S, Stjepanovic N, Salinas M, Capellá G, Brunet J, Lázaro C, Balmaña J; Catalan Hereditary Cancer Group.
    • Int J Cancer. 2019 Mar 29. doi: 10.1002/ijc.32304. [Epub ahead of print]
    • Plasma RANKL levels are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.
    • Zaman T, Sun P, Narod SA, Salmena L, Kotsopoulos J.
    • Oncotarget. 2019 Mar 29;10(25):2475-2483. doi: 10.18632/oncotarget.26810. eCollection 2019 Mar 29.
    • Effect of Background Parenchymal Enhancement on Cancer Risk Across Different High-Risk Patient Populations Undergoing Screening Breast MRI.
    • Sippo DA, Rutledge GM, Burk KS, Mercaldo SF, Dontchos BN, Edmonds CE, Lehman CD.
    • AJR Am J Roentgenol. 2019 Mar 19:1-7. doi: 10.2214/AJR.18.20566. [Epub ahead of print]
    • Intensive Surveillance with Biannual Dynamic Contrast-Enhanced Magnetic Resonance Imaging Downstages Breast Cancer in BRCA1 Mutation Carriers.
    • Guindalini RSC, Zheng Y, Abe H, Whitaker K, Yoshimatsu TF, Walsh T, Schacht D, Kulkarni K, Sheth D, Verp MS, Bradbury AR, Churpek J, Obeid E, Mueller J, Khramtsova G, Liu F, Raoul A, Cao H, Romero IL, Hong S, Livingston R, Jaskowiak N, Wang X, Debiasi M, Pritchard CC, King MC, Karczmar G, Newstead GM, Huo D, Olopade OI.
    • Clin Cancer Res. 2019 Mar 15;25(6):1786-1794. doi: 10.1158/1078-0432.CCR-18-0200. Epub 2018 Aug 28.

    Review, Research news:

    More Is More: Semiannual Breast MRI Screening in BRCA1 Mutation Carriers.

    • Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world.
    • Ow SGW, Ong PY, Lee SC.
    • PLoS One. 2019 Mar 15;14(3):e0213746. doi: 10.1371/journal.pone.0213746. eCollection 2019.
    • Selected features of breast and peritoneal cancers diagnosed in BRCA1 carriers after risk-reducing salpingo-oophorectomy.
    • Menkiszak J, Chudecka-Głaz A, Cymbaluk-Płoska A, Celewicz A, Kojs Z, Szajda M, Świniarska M, Bedner R, Jurczak A, Celewicz M, Cieszyńska M, Lubiński J, Gronwald J.
    • Hered Cancer Clin Pract. 2019 Mar 14;17:10. doi: 10.1186/s13053-019-0109-5. eCollection 2019.
    • Prophylactic irradiation to the contralateral breast for BRCA mutation carriers with early-stage breast cancer.
    • Evron E, Ben-David AM, Goldberg H, Fried G, Kaufman B, Catane R, Pfeffer MR, Geffen DB, Chernobelsky P, Karni T, Abdah-Bortnyak R, Rosengarten O, Matceyevsky D, Inbar M, Kuten A, Corn BW.
    • Ann Oncol. 2019 Mar 1;30(3):412-417. doi: 10.1093/annonc/mdy515.

    Editorial:

    Is bilateral radiation an option for BRCA mutation carriers with unilateral breast cancer?

    • BRCA1 represses DNA replication initiation through antagonizing estrogen signaling and maintains genome stability in parallel with WEE1-MCM2 signaling during pregnancy.
    • Xu X, Chen E, Mo L, Zhang L, Shao F, Miao K, Liu J, Su SM, Valecha M, In Chan U, Zheng H, Chen M, Chen W, Chen Q, Fu H, Aladjem MI, He Y, Deng CX.
    • Hum Mol Genet. 2019 Mar 1;28(5):842-857. doi: 10.1093/hmg/ddy398.
    • Prevalence of BRCA1 and BRCA2 pathogenic variants in a large, unselected breast cancer cohort.
    • Li J, Wen WX, Eklund M, Kvist A, Eriksson M, Christensen HN, Torstensson A, Bajalica-Lagercrantz S, Dunning AM, Decker B, Allen J, Luccarini C, Pooley K, Simard J, Dorling L, Easton DF, Teo SH, Hall P, Borg Å, Grönberg H, Czene K.
    • Int J Cancer. 2019 Mar 1;144(5):1195-1204. doi: 10.1002/ijc.31841. Epub 2018 Nov 9.
    • BRCA1/BRCA2 mutations in Japanese women with ductal carcinoma in situ.
    • Liu Y, Ide Y, Inuzuka M, Tazawa S, Kanada Y, Matsunaga Y, Kuwayama T, Sawada T, Akashi-Tanaka S, Nakamura S.
    • Mol Genet Genomic Med. 2019 Mar;7(3):e493. doi: 10.1002/mgg3.493. Epub 2019 Jan 16.
    • The clinical impact of MRI screening for BRCA mutation carriers: the first report in Japan.
    • Murakami W, Tozaki M, Nakamura S, Ide Y, Inuzuka M, Hirota Y, Murakami K, Takahama N, Ohgiya Y, Gokan T.
    • Breast Cancer. 2019 Feb 28. doi: 10.1007/s12282-019-00955-6. [Epub ahead of print]
    • BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report.
    • Mehemmai C, Cherbal F, Hamdi Y, Guedioura A, Benbrahim W, Bakour R, Abdelhak S.
    • Pathol Oncol Res. 2019 Feb 4. doi: 10.1007/s12253-019-00586-4. [Epub ahead of print]
    • Prevalence of germline mutations in the TP53 gene in patients with early-onset breast cancer in the Mexican population.
    • Gallardo-Alvarado LN, Tusié-Luna MT, Tussié-Luna MI, Díaz-Chávez J, Segura YX, Bargallo-Rocha E, Villarreal C, Herrera-Montalvo LA, Herrera-Medina EM, Cantu-de Leon DF.
    • BMC Cancer. 2019 Feb 1;19(1):118. doi: 10.1186/s12885-019-5312-2.
    • Identifying breast cancer susceptibility genes - a review of the genetic background in familial breast cancer.
    • Wendt C, Margolin S.
    • Acta Oncol. 2019 Feb;58(2):135-146. doi: 10.1080/0284186X.2018.1529428. Epub 2019 Jan 3.
    • Age-related risk factors associated with primary contralateral breast cancer among younger women versus older women.
    • Yoon TI, Kwak BS, Yi OV, Kim S, Um E, Yun KW, Shin HN, Lee S, Sohn G, Chung IY, Kim J, Ko BS, Lee JW, Son BH, Ahn SH, Kim HJ.
    • Breast Cancer Res Treat. 2019 Feb;173(3):657-665. doi: 10.1007/s10549-018-5031-4. Epub 2018 Oct 30.
    • Oestrogen receptor status and survival in women with BRCA2-associated breast cancer.
    • Metcalfe K, Lynch HT, Foulkes WD, Tung N, Olopade OI, Eisen A, Lerner-Ellis J, Snyder C, Kim SJ, Sun P, Narod SA.
    • Br J Cancer. 2019 Feb;120(4):398-403. doi: 10.1038/s41416-019-0376-y. Epub 2019 Feb 6.
    • Novel pleiotropic BRCA2 pathogenic variants in Lebanese families.
    • Riyad EK, Khraibani HMJ, Emma A, Carla M, Chantal F.
    • Cancer Genet. 2019 Feb;231-232:32-35. doi: 10.1016/j.cancergen.2018.12.005. Epub 2018 Dec 30.
    • Case report
    • Selected medical interventions in women with a deleterious BRCA mutation: a population-based study in British Columbia.
    • Hanley GE, McAlpine JN, Cheifetz R, Schrader KA, McCullum M, Huntsman D.
    • Curr Oncol. 2019 Feb;26(1):e17-e23. doi: 10.3747/co.26.4068. Epub 2019 Feb 1.
    • Subtypes in BRCA-mutated breast cancer.
    • Sønderstrup IMH, Jensen MR, Ejlertsen B, Eriksen JO, Gerdes AM, Kruse TA, Larsen MJ, Thomassen M, Lænkholm AV.
    • Hum Pathol. 2019 Feb;84:192-201. doi: 10.1016/j.humpath.2018.10.005. Epub 2018 Oct 17.
    • [Hereditary predisposition to breast cancer (1): genetics].
    • Cohen-Haguenauer O.
    • Med Sci (Paris). 2019 Feb;35(2):138-151. doi: 10.1051/medsci/2019003. Epub 2019 Feb 18.
    • BRCA1 mutation in breast cancer patients: Analysis of prognostic factors and survival.
    • Huszno J, Kołosza Z, Grzybowska E.
    • Oncol Lett. 2019 Feb;17(2):1986-1995. doi: 10.3892/ol.2018.9770. Epub 2018 Nov 28.
    • Causes for Frequent Pathogenic BRCA1 Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift.
    • Møller P, Dominguez-Valentin M, Rødland EA, Hovig E.
    • Cancers (Basel). 2019 Jan 23;11(2). pii: E132. doi: 10.3390/cancers11020132.
    • Triple-negative breast cancer: the reality in Chile and in Latin America.
    • Caglevic C, Anabalón J, Soza C, Milla E, Gaete F, Carrasco AM, Panay S, Gallardo C, Mahave M.
    • Ecancermedicalscience. 2019 Jan 22;13:893. doi: 10.3332/ecancer.2019.893. eCollection 2019.
    • Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer.
    • Li JY, Jing R, Wei H, Wang M, Xiaowei Q, Liu H, Jian L, Ou JH, Jiang WH, Tian FG, Sheng Y, Li HY, Xu H, Zhang RS, Guan AH, Liu K, Jiang HC, Ren Y, He JJ, Huang W, Liao N, Cai X, Ming J, Ling R, Xu Y, Hu CY, Zhang J, Guo B, Ouyang L, Shuai P, Liu Z, Zhong L, Zeng Z, Zhang T, Xuan Z, Tan X, Liang J, Pan Q, Chen L, Zhang F, Fan LJ, Zhang Y, Yang X, BoLi J, Chen C, Jiang J.
    • Int J Cancer. 2019 Jan 15;144(2):281-289. doi: 10.1002/ijc.31601. Epub 2018 Nov 8.
    • Constitutive BRCA1 Promoter Hypermethylation Can Be a Predisposing Event in Isolated Early-Onset Breast Cancer.
    • Azzollini J, Pesenti C, Pizzamiglio S, Fontana L, Guarino C, Peissel B, Plebani M, Tabano S, Sirchia SM, Colapietro P, Villa R, Paolini B, Verderio P, Miozzo M, Manoukian S.
    • Cancers (Basel). 2019 Jan 9;11(1). pii: E58. doi: 10.3390/cancers11010058.
    • 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.
    • The association between non-breast and ovary cancers and BRCA mutation in first- and second-degree relatives of high-risk breast cancer patients: a large-scale study of Koreans.
    • Kim H, Choi DH, Park W, Im YH, Ahn JS, Park YH, Nam SJ, Kim SW, Lee JE, Yu JH, Lee SK, Jung BY.
    • Hered Cancer Clin Pract. 2019 Jan 3;17:1. doi: 10.1186/s13053-018-0103-3. eCollection 2019.
    • Germline Mutations in BRCA1 and BRCA2 in Breast Cancer Patients with High Genetic Risk in Turkish Population.
    • Geredeli C, Yasar N, Sakin A.
    • Int J Breast Cancer. 2019 Jan 1;2019:9645147. doi: 10.1155/2019/9645147. eCollection 2019.
    • Risk-Reducing Mastectomy in BRCA1 and BRCA2 Mutation Carriers: A Complex Discussion.
    • Domchek SM.
    • JAMA. 2019 Jan 1;321(1):27. doi: 10.1001/jama.2018.18942.
    • Review, Commentary
    • Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6.
    • Evans DG, Howell SJ, Peltonen J.
    • JAMA Oncol. 2019 Jan 1;5(1):119-120. doi: 10.1001/jamaoncol.2018.6905.
    • Letter, Comment

    Original research:

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

    Letter, Comment:

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

    Letter, Comment:

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

    Letter, Reply:

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

    • Relationship between Background Parenchymal Enhancement on High-risk Screening MRI and Future Breast Cancer Risk.
    • Grimm LJ, Saha A, Ghate SV, Kim C, Soo MS, Yoon SC, Mazurowski MA.
    • Acad Radiol. 2019 Jan;26(1):69-75. doi: 10.1016/j.acra.2018.03.013. Epub 2018 Mar 27.
    • 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
    • The rate of the recurrent MSH6 mutations in Ashkenazi Jewish breast cancer patients.
    • Bernstein-Molho R, Laitman Y, Schayek H, Iomdin S, Friedman E.
    • Cancer Causes Control. 2019 Jan;30(1):97-101. doi: 10.1007/s10552-018-1106-0. Epub 2018 Nov 30.
    • Common genetic variants contribute to incomplete penetrance: evidence from cancer-free BRCA1 mutation carriers.
    • Downs B, Sherman S, Cui J, Kim YC, Snyder C, Christensen M, Luo J, Lynch H, Wang SM.
    • Eur J Cancer. 2019 Jan;107:68-78. doi: 10.1016/j.ejca.2018.10.022. Epub 2018 Dec 11.
    • Clinical and pathologic characteristics of breast cancer patients carrying the c.3481_3491del11 mutation.
    • El Tannouri R, Albuisson E, Jonveaux P, Luporsi E.
    • Fam Cancer. 2019 Jan;18(1):1-8. doi: 10.1007/s10689-018-0079-1.
    • Targeted sequencing to discover germline variants in the BRCA1 and BRCA2 genes in a Russian population and their association with breast cancer risk.
    • Solodskikh SA, Panevina AV, Gryaznova MV, Gureev AP, Serzhantova OV, Mikhailov AA, Maslov AY, Popov VN.
    • 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.

    Research news:

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

    • BRCA1 Mutations Associated With Increased Risk of Brain Metastases in Breast Cancer: A 1: 2 Matched-pair Analysis.
    • Zavitsanos PJ, Wazer DE, Hepel JT, Wang Y, Singh K, Leonard KL.
    • Am J Clin Oncol. 2018 Dec;41(12):1252-1256. doi: 10.1097/COC.0000000000000466.
    • 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.
    • Yamauchi H, Okawa M, Yokoyama S, Nakagawa C, Yoshida R, Suzuki K, Nakamura S, Arai M.
    • 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.
    • Germline pathogenic variants identified in women with ovarian tumors.
    • Carter NJ, Marshall ML, Susswein LR, Zorn KK, Hiraki S, Arvai KJ, Torene RI, McGill AK, Yackowski L, Murphy PD, Xu Z, Solomon BD, Klein RT, Hruska KS.
    • Gynecol Oncol. 2018 Dec;151(3):481-488. doi: 10.1016/j.ygyno.2018.09.030. Epub 2018 Oct 12.
    • The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations.
    • Terry MB, Liao Y, Kast K, Antoniou AC, McDonald JA, Mooij TM, Engel C, Nogues C, Buecher B, Mari V, Moretta-Serra J, Gladieff L, Luporsi E, Barrowdale D, Frost D, Henderson A, Brewer C, Evans DG, Eccles D, Cook J, Ong KR, Izatt L, Ahmed M, Morrison PJ, Dommering CJ, Oosterwijk JC, Ausems MGEM, Kriege M, Buys SS, Andrulis IL, John EM, Daly M, Friedlander M, McLachlan SA, Osorio A, Caldes T, Jakubowska A, Simard J, Singer CF, Tan Y, Olah E, Navratilova M, Foretova L, Gerdes AM, Roos-Blom MJ, Arver B, Olsson H, Schmutzler RK, Hopper JL, van Leeuwen FE, Goldgar D, Milne RL, Easton DF, Rookus MA, Andrieu N; EMBRACE, GENEPSO, BCFR, HEBON, kConFab and IBCCS.
    • JNCI Cancer Spectr. 2018 Dec;2(4):pky078. doi: 10.1093/jncics/pky078. Epub 2019 Mar 8.
    • Breast cancer in adolescents and young adults.
    • Johnson RH, Anders CK, Litton JK, Ruddy KJ, Bleyer A.
    • Pediatr Blood Cancer. 2018 Dec;65(12):e27397. doi: 10.1002/pbc.27397. Epub 2018 Aug 28.
    • Review
    • 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.
    • Screening BRCA1 and BRCA2 Mutation Carriers for Breast Cancer.
    • Warner E.
    • Cancers (Basel). 2018 Nov 30;10(12). pii: E477. doi: 10.3390/cancers10120477.
    • Prophylactic Irradiation to the Contralateral Breast for BRCA Mutation Carriers with Early Stage Breast Cancer.
    • Evron E, Ben-David AM, Goldberg H, Fried G, Kaufman B, Catane R, Pfeffer MR, Geffen DB, Chernobelsky P, Karni T, Abdah-Bortnyak R, Rosengarten O, Matceyevsky D, Inbar M, Kuten A, Corn BW.
    • Ann Oncol. 2018 Nov 23. doi: 10.1093/annonc/mdy515. [Epub ahead of print]
    • Differential Burden of Rare and Common Variants on Tumor Characteristics, Survival, and Mode of Detection in Breast Cancer.
    • Li J, Ugalde-Morales E, Wen WX, Decker B, Eriksson M, Torstensson A, Christensen HN, Dunning AM, Allen J, Luccarini C, Pooley KA, Simard J, Dorling L, Easton DF, Teo SH, Hall P, Czene K.
    • Cancer Res. 2018 Nov 1;78(21):6329-6338. doi: 10.1158/0008-5472.CAN-18-1018.
    • 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.
    • 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.
    • Association of E-selectin S128R Polymorphism with Hereditary Breast Carcinoma Susceptibility in Turkish Patients Without BRCA1/2 Germline Mutations.
    • Yararbas K, Atalay PB.
    • Balkan J Med Genet. 2018 Oct 29;21(1):27-31. doi: 10.2478/bjmg-2018-0004. eCollection 2018 Jun.
    • 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.
    • Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle AB, Kubo M.
    • Nat Commun. 2018 Oct 4;9(1):4083. doi: 10.1038/s41467-018-06581-8.
    • Menopausal Status and Outcomes of BRCA Mutation Carriers with Breast Cancer.
    • Carlson K, Chung A, Mirocha J, Donovan C, Estrada S, Siegel E, Giuliano A, Amersi F.
    • Am Surg. 2018 Oct 1;84(10):1584-1588.
    • Associations between RAD51D germline mutations and breast cancer risk and survival in BRCA1/2-negative breast cancers.
    • Chen X, Li Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Xie Y.
    • Ann Oncol. 2018 Oct 1;29(10):2046-2051. doi: 10.1093/annonc/mdy338.
    • Inherited Breast Cancer in Nigerian Women.
    • Zheng Y, Walsh T, Gulsuner S, Casadei S, Lee MK, Ogundiran TO, Ademola A, Falusi AG, Adebamowo CA, Oluwasola AO, Adeoye A, Odetunde A, Babalola CP, Ojengbede OA, Odedina S, Anetor I, Wang S, Huo D, Yoshimatsu TF, Zhang J, Felix GES, King MC, Olopade OI.
    • J Clin Oncol. 2018 Oct 1;36(28):2820-2825. doi: 10.1200/JCO.2018.78.3977. Epub 2018 Aug 21.

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

    • PALB2 germ-line mutations in Russian breast cancer patients: Identification of recurrent alleles and analysis of phenotypic characteristics of the tumors.
    • Imyanitov EN, Preobrazhenskaya EV, Shlejkina AY, Sokolenko AP, Anisimova EI, Ivantsov AO, Togo AV.
    • Ann Oncol. 2018 Oct;29 Suppl 8:viii76. doi: 10.1093/annonc/mdy270.234.
    • Conference abstract
    • [The French Genetic and Cancer Consortium guidelines for multigene panel analysis in hereditary breast and ovarian cancer predisposition].
    • Moretta J, Berthet P, Bonadona V, Caron O, Cohen-Haguenauer O, Colas C, Corsini C, Cusin V, De Pauw A, Delnatte C, Dussart S, Jamain C, Longy M, Luporsi E, Maugard C, Nguyen TD, Pujol P, Vaur D, Andrieu N, Lasset C, Noguès C; Groupe Génétique et Cancer d’Unicancer.
    • Bull Cancer. 2018 Oct;105(10):907-917. doi: 10.1016/j.bulcan.2018.08.003. Epub 2018 Sep 27.
    • Practice Guideline, [Article in French]
    • Impact of BRCA Mutation Status on Survival of Women With Triple-negative Breast Cancer.
    • Yadav S, Ladkany R, Yadav D, Alhalabi O, Khaddam S, Isaac D, Cardenas PY, Zakalik D.
    • Clin Breast Cancer. 2018 Oct;18(5):e1229-e1235. doi: 10.1016/j.clbc.2017.12.014. Epub 2017 Dec 30.
    • 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
    • Detection of novel germline mutations in six breast cancer predisposition genes by targeted next-generation sequencing.
    • Dong L, Wu N, Wang S, Cheng Y, Han L, Zhao J, Long X, Mu K, Li M, Wei L, Wang W, Zhang W, Cao Y, Liu J, Yu J, Hao X.
    • Hum Mutat. 2018 Oct;39(10):1442-1455. doi: 10.1002/humu.23597. Epub 2018 Aug 2.
    • Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.
    • Quezada Urban R, Díaz Velásquez CE, Gitler R, Rojo Castillo MP, Sirota Toporek M, Figueroa Morales A, Moreno García O, García Esquivel L, Torres Mejía G, Dean M, Delgado Enciso I, Ochoa Díaz López H, Rodríguez León F, Jan V, Garzón Barrientos VH, Ruiz Flores P, Espino Silva PK, Haro Santa Cruz J, Martínez Gregorio H, Rojas Jiménez EA, Romero Cruz LE, Méndez Catalá CF, Álvarez Gómez RM, Fragoso Ontiveros V, Herrera LA, Romieu I, Terrazas LI, Chirino YI, Frecha C, Oliver J, Perdomo S, Vaca Paniagua F.
    • Cancers (Basel). 2018 Sep 27;10(10). pii: E361. doi: 10.3390/cancers10100361.
    • 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.

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

    • Hormone therapy and breast cancer risk after ovary removal in women with a BRCA1 mutation.
    • [No author given]
    • FORCE. XRAYS. 2018 Sep 7.

    Hormone Replacement Therapy After Oophorectomy and Breast Cancer Risk Among BRCA1 Mutation Carriers.

    • Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
    • Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF.
    • JAMA Netw Open. 2018 Sep 7;1(5):e182140. doi: 10.1001/jamanetworkopen.2018.2140.
    • Real-world health services utilisation and outcomes after BRCA1 and BRCA2 testing in Ontario, Canada: the What Comes Next Cohort Study protocol.
    • Dossa F, Cusimano MC, Sutradhar R, Metcalfe K, Little T, Lerner-Ellis J, Eisen A, Meschino WS, Baxter NN.
    • BMJ Open. 2018 Sep 4;8(9):e025317. doi: 10.1136/bmjopen-2018-025317.
    • Comparison of background parenchymal enhancement and fibroglandular density at breast magnetic resonance
    • Grubstein A, Rapson Y, Benzaquen O, Rozenblatt S, Gadiel I, Atar E, Yerushalmi R, Cohen MJ.
    • Clin Imaging. 2018 Sep - Oct;51:347-351. doi: 10.1016/j.clinimag.2018.06.010. Epub 2018 Jun 30.
    • 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.
    • Pak J Med Sci. 2018 Sep-Oct;34(5):1158-1163. doi: 10.12669/pjms.345.15764.
    • Genetic Variations, Exposure to Persistent Organic Pollutants and Breast Cancer Risk - A Greenlandic Case-Control Study.
    • Wielsøe M, Eiberg H, Ghisari M, Kern P, Lind O, Bonefeld-Jørgensen EC.
    • Basic Clin Pharmacol Toxicol. 2018 Sep;123(3):335-346. doi: 10.1111/bcpt.13002. Epub 2018 Apr 23.
    • Imaging Phenotypes in Women at High Risk for Breast Cancer on Mammography, Ultrasound, and Magnetic Resonance Imaging Using the Fifth Edition of the Breast Imaging Reporting and Data System.
    • Marino MA, Riedl CC, Bernathova M, Bernhart C, A T Baltzer P, Helbich TH, Pinker K.
    • Eur J Radiol. 2018 Sep;106:150-159. doi: 10.1016/j.ejrad.2018.07.026. Epub 2018 Jul 30.
    • 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.
    • 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.
    • The Novel Pathogenic Mutation c.849dupT in BRCA2 Contributes to the Nonsense-Mediated mRNA Decay of BRCA2 in Familial Breast Cancer.
    • Li S, Ma J, Hu C, Zhang X, Xiao D, Hao L, Xia W, Yang J, Hu L, Liu X, Dong M, Ma D, Liu R.
    • J Breast Cancer. 2018 Sep;21(3):330-333. doi: 10.4048/jbc.2018.21.e33. Epub 2018 Aug 28.
    • A new pathogenic mutation of the BRCA1 gene in a patient with ovarian cancer: A case report.
    • Yizhen N, Kemin L, Qingli L, Danqing W, Rutie Y, Liang S.
    • Medicine (Baltimore). 2018 Sep;97(38):e12371. doi: 10.1097/MD.0000000000012371.
    • Identification of a novel breast cancer-causing mutation in the BRCA1 gene by targeted next generation sequencing: A case report.
    • Wang Y, Jiang D, Zhao Q, Huang H, Zhang X, Cui Y, Liu J, Wu J, Lin K, Chen W, Xiang J, Jin H, Peng Z, Banerjee S.
    • Oncol Lett. 2018 Sep;16(3):3913-3916. doi: 10.3892/ol.2018.9139. Epub 2018 Jul 12.
    • Breast Cancer Surgical Risk Reduction for Patients With Inherited Mutations in Moderate Penetrance Genes.
    • Weiss A, Garber JE, King T.
    • JAMA Surg. 2018 Aug 29. doi: 10.1001/jamasurg.2018.2493. [Epub ahead of print]
    • Review
    • Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
    • Lu HM, Li S, Black MH, Lee S, Hoiness R, Wu S, Mu W, Huether R, Chen J, Sridhar S, Tian Y, McFarland R, Dolinsky J, Tippin Davis B, Mexal S, Dunlop C, Elliott A.
    • JAMA Oncol. 2018 Aug 16. doi: 10.1001/jamaoncol.2018.2956. [Epub ahead of print]

    Commentary:

    Hereditary Breast and Ovarian Cancer Testing in the Genomic Era.

    Letter, Comment:

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

    Letter, Comment:

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

    Letter, Comment:

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

    Letter, Reply:

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

    • Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.
    • Penkert J, Schmidt G, Hofmann W, Schubert S, Schieck M, Auber B, Ripperger T, Hackmann K, Sturm M, Prokisch H, Hille-Betz U, Mark D, Illig T, Schlegelberger B, Steinemann D.
    • Breast Cancer Res. 2018 Aug 7;20(1):87. doi: 10.1186/s13058-018-1011-1.
    • Hormone Replacement Therapy After Oophorectomy and Breast Cancer Risk Among BRCA1 Mutation Carriers.
    • Kotsopoulos J, Gronwald J, Karlan BY, Huzarski T, Tung N, Moller P, Armel S, Lynch HT, Senter L, Eisen A, Singer CF, Foulkes WD, Jacobson MR, Sun P, Lubinski J, Narod SA; Hereditary Breast Cancer Clinical Study Group.
    • JAMA Oncol. 2018 Aug 1;4(8):1059-1065. doi: 10.1001/jamaoncol.2018.0211.

    Research News: Hormone therapy and breast cancer risk after ovary removal in women with a BRCA1 mutation. (FORCE, XRAYS)

    Commentary, Video: Menopausal Hormone Therapy and Risk for Breast Cancer in BRCA1 Mutation Carriers. (Medscape)

    • Smoking and FGFR2 rs2981582 variant independently modulate male breast cancer survival: A population-based study in Tuscany, Italy.
    • Zanna I, Silvestri V, Palli D, Magrini A, Rizzolo P, Saieva C, Zelli V, Bendinelli B, Vezzosi V, Valentini V, Bianchi S, Ottini L, Masala G.
    • Breast. 2018 Aug;40:85-91. doi: 10.1016/j.breast.2018.04.017. Epub 2018 Apr 28.
    • Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers.
    • Derks-Smeets IAP, Schrijver LH, de Die-Smulders CEM, Tjan-Heijnen VCG, van Golde RJT, Smits LJ, Caanen B, van Asperen CJ, Ausems M, Collée M, van Engelen K, Kets CM, van der Kolk L, Oosterwijk JC, van Os TAM; HEBON, Rookus MA, van Leeuwen FE, Gómez García EB.
    • Br J Cancer. 2018 May 1 [2018 Aug];119(3):357-363. doi: 10.1038/s41416-018-0139-1.
    • Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer.
    • Abulkhair O, Al Balwi M, Makram O, Alsubaie L, Faris M, Shehata H, Hashim A, Arun B, Saadeddin A, Ibrahim E.
    • J Glob Oncol. 2018 Aug;(4):1-9. doi: 10.1200/JGO.18.00066.
    • Association Between CHEK2*1100delC and Breast Cancer: A Systematic Review and Meta-Analysis.
    • Liang M, Zhang Y, Sun C, Rizeq FK, Min M, Shi T, Sun Y.
    • Mol Diagn Ther. 2018 Aug;22(4):397-407. doi: 10.1007/s40291-018-0344-x.
    • Review
    • Does stress increase risk of breast cancer? A 15-year prospective study.
    • Butow P, Price M, Coll J, Tucker K, Meiser B, Milne R, Wilson J, Heiniger L, Baylock B, Bullen T, Weideman P, Phillips KA; kConFab investigators; kConFab Clinical Follow-Up investigators; kConFab psychosocial investigators.
    • Psychooncology. 2018 Aug;27(8):1908-1914. doi: 10.1002/pon.4740. Epub 2018 May 4.
    • Identification of a BRCA2 mutation in a Turkish family with early-onset breast cancer.
    • Celik E, Ermis Tekkus K, Akcay IM, Alkurt Sal G, Ezberci F, Dinler Doganay G, Doganay L.
    • Clin Case Rep. 2018 Jul 17;6(9):1751-1755. doi: 10.1002/ccr3.1625. eCollection 2018 Sep.
    • Breast cancer in an 18-year-old female: A fatal case report and literature review.
    • Jóźwik M, Posmyk R, Jóźwik M, Semczuk A, Gogiel-Shields M, Kuś-Słowińska M, Garbowicz M, Klukowski M, Wojciechowicz J.
    • Cancer Biol Ther. 2018 Jul 3;19(7):543-548. doi: 10.1080/15384047.2017.1416931.
    • Risk of Different Cancers Among First-degree Relatives of Pancreatic Cancer Patients: Influence of Probands’ Susceptibility Gene Mutation Status.
    • Antwi SO, Fagan SE, Chaffee KG, Bamlet WR, Hu C, Polley EC, Hart SN, Shimelis H, Lilyquist J, Gnanaolivu RD, McWilliams RR, Oberg AL, Couch FJ, Petersen GM.
    • J Natl Cancer Inst. 2018 Jul 2. doi: 10.1093/jnci/djx272. [Epub ahead of print]
    • Testing Ashkenazi Jewish Women for Mutations Predisposing to Breast Cancer in Genes Other Than BRCA1 and BRCA2.
    • Narod S, Sopik V, Cybulski C.
    • JAMA Oncol. 2018 Jul 1;4(7):1012. doi: 10.1001/jamaoncol.2018.0595.
    • Letter

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

    Letter, Reply:

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

    • Mortality and Risk of Cancer After Prophylactic Bilateral Oophorectomy in Women With a Family History of Cancer.
    • Abildgaard J, Ahlström MG, Daugaard G, Nielsen DL, Tønnes Pedersen A, Lindegaard B, Obel N.
    • JNCI Cancer Spectrum. 2018 Jul 1;2(3):pky034. doi: 10.1093/jncics/pky034.
    • Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations.
    • Singh J, Thota N, Singh S, Padhi S, Mohan P, Deshwal S, Sur S, Ghosh M, Agarwal A, Sarin R, Ahmed R, Almel S, Chakraborti B, Raina V, DadiReddy PK, Smruti BK, Rajappa S, Dodagoudar C, Aggarwal S, Singhal M, Joshi A, Kumar R, Kumar A, Mishra DK, Arora N, Karaba A, Sankaran S, Katragadda S, Ghosh A, Veeramachaneni V, Hariharan R, Mannan AU.
    • Breast Cancer Res Treat. 2018 Jul;170(1):189-196. doi: 10.1007/s10549-018-4726-x. Epub 2018 Feb 22.
    • Uptake of risk-reducing surgery in BRCA gene carriers in Wales, UK.
    • Long J, Evans TG, Bailey D, Lewis MH, Gower-Thomas K, Murray A.
    • Breast J. 2018 Jul;24(4):580-585. doi: 10.1111/tbj.12978. Epub 2017 Dec 29.
    • The impact of patient age on breast cancer risk prediction models.
    • Coopey SB, Acar A, Griffin M, Cintolo-Gonzalez J, Semine A, Hughes KS.
    • Breast J. 2018 Jul;24(4):592-598. doi: 10.1111/tbj.12976. Epub 2018 Jan 8.
    • Increased access to TP53 analysis through breast cancer multi-gene panels: clinical considerations.
    • Azzollini J, Mariani M, Peissel B, Manoukian S.
    • Fam Cancer. 2018 Jul;17(3):317-319. doi: 10.1007/s10689-017-0020-z.

    Next generation sequencing is informing phenotype: a TP53 example.

    • Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study.
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    Research review, Commentary: Does expanded genetic testing benefit Jewish women diagnosed with breast cancer? (FORCE. XRAYS. 2017 Sep 13.)

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    • Frequency of pathogenic germline mutations in cancer susceptibility genes in breast cancer patients.
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    • The BRCA1 and BRCA2 Genes in Early-Onset Breast Cancer Patients.
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    • Pathogenic Germline Variants in 10,389 Adult Cancers.
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    • Association of sporadic and familial Barrett's esophagus with breast cancer.
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    • High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.
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    • Predictors of survival for breast cancer patients with a BRCA1 mutation.
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    • Assessing the effectiveness of NICE criteria for stratifying breast cancer risk in a UK cohort.
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    • Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.
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    • Clinicopathological and Molecular Study of Triple-Negative Breast Cancer in Algerian Patients.
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    • Prospective evaluation of body size and breast cancer risk among BRCA1 and BRCA2 mutation carriers.
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    • Short report: Follow-up of Bahamian women with a BRCA1 or BRCA2 mutation.
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    • 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.
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    • Review
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    • Promoter Methylation of BRCA1, DAPK1 and RASSF1A is Associated with Increased Mortality among Indian Women with Breast Cancer.
    • Yadav P, Masroor M, Nandi K, Kaza RCM, Jain SK, Khurana N, Saxena A.
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    • 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.
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    • Survival and mutation status in breast cancer patients under age 40.
    • [No author given]
    • FORCE. XRAYS. 2018 Feb 15.

    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?

    • Male BRCA mutation carriers: clinical characteristics and cancer spectrum.
    • Ibrahim M, Yadav S, Ogunleye F, Zakalik D.
    • BMC Cancer. 2018 Feb 13;18(1):179. doi: 10.1186/s12885-018-4098-y.
    • Patient-Centered Care in Breast Cancer Genetic Clinics.
    • Brédart A, Anota A, Dick J, Kuboth V, Lareyre O, De Pauw A, Cano A, Stoppa-Lyonnet D, Schmutzler R, Dolbeault S, Kop JL.
    • Int J Environ Res Public Health. 2018 Feb 12;15(2). pii: E319. doi: 10.3390/ijerph15020319.
    • 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.
    • 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.
    • Should biannual MRIs replace annual mammograms in high-risk women?
    • [No author given]
    • FORCE. XRAYS. 2018 Feb 1.

    Press: Biannual MRI Better Than Annual Mammogram at Detecting Breast Cancer in High-risk Women, Study Finds. (Breast Cancer News)

    Press: For women with genetic risk, semi-annual MRI beats mammograms. (ScienceDaily)

    • 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.
    • 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.
    • Combined annotation-dependent depletion score for BRCA1/2 variants in patients with breast and/or ovarian cancer.
    • Nakagomi H, Mochizuki H, Inoue M, Hirotsu Y, Amemiya K, Sakamoto I, Nakagomi S, Kubota T, Omata M.
    • Cancer Sci. 2018 Feb;109(2):453-461. doi: 10.1111/cas.13464. Epub 2018 Jan 17.
    • 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.

    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)

    • Influence of Risk Category and Screening Round on the Performance of an MR Imaging and Mammography Screening Program in Carriers of the BRCA Mutation and Other Women at Increased Risk.
    • Vreemann S, Gubern-Mérida A, Schlooz-Vries MS, Bult P, van Gils CH, Hoogerbrugge N, Karssemeijer N, Mann RM.
    • Radiology. 2018 Feb;286(2):443-451. doi: 10.1148/radiol.2017170458. Epub 2017 Oct 16.
    • Factors associated with false positive results on screening mammography in a population of predominantly Hispanic women.
    • McGuinness JE, Ueng W, Trivedi MS, Yi HS, David R, Vanegas A, Vargas J, Sandoval R, Kukafka R, Crew KD.
    • Cancer Epidemiol Biomarkers Prev. 2018 Jan 30. pii: cebp.0009.2017. doi: 10.1158/1055-9965.EPI-17-0009. [Epub ahead of print]
    • Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a Romanian population.
    • Goidescu IG, Caracostea G, Eniu DT, Stamatian FV.
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    • 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.
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    • Double Heterozygosity for BRCA1 Pathogenic Variant and BRCA2 Polymorphic Stop Codon K3326X: A Case Report in a Southern Italian Family.
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    • A plasma telomeric cell-free DNA level in unaffected women with BRCA1 or/and BRCA2 mutations: a pilot study.
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    • Biannual MRI Better Than Annual Mammogram at Detecting Breast Cancer in High-risk Women, Study Finds.
    • Inacio, P.
    • Breast Cancer News. 2018 Jan 5.

    Research News: Should biannual MRIs replace annual mammograms in high-risk women? (FORCE, XRAYS)

    • Characterization of basal-like subtype in a Danish consecutive primary breast cancer cohort.
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