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    • Case report
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    • RE: Heterozygous BRCA1/BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.
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    Related:

    •• Letter, Reply:

    Reply to Evans and Woodward.

    •• Original research:

    Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.

    • BRCA-CRisk: A Contralateral Breast Cancer Risk Prediction Model for BRCA Carriers.
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    • Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia.
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    • Contraceptives and cancer risks in BRCA1/2 pathogenic variant carriers: a systematic review and meta-analysis.
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    • Details Emerge About Why Cancers Caused by BRCA Mutations Recur.
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    • Inside Precision Medicine. Topics. Oncology. 2022 Nov 16.

    Related:

    •• Original research:

    Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

    • Genetic Characterization in High-Risk Individuals from a Low-Resource City of Peru.
    • Zavaleta E, Solis N, Palacios MI, Zevallos-Escobar LE, Vasquez Corales E, Bazo-Alvarez JC, Dominguez-Barrera C, Campos A, Wernhoff P, Ekstrøm PO, Møller P, Visnovska T, Hovig E, Balazar-Palacios J, Alvarez-Valenzuela K, Nakken S, Dominguez-Valentin M.
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    • Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.
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    • J Natl Cancer Inst. 2022 Nov 14;114(11):1523-1532. doi: 10.1093/jnci/djac151.

    Related:

    •• Letter, Commentary:

    RE: Heterozygous BRCA1/BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.

    •• Letter, Reply:

    Reply to Evans and Woodward.

    • Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
    • Shah JB, Pueschl D, Wubbenhorst B, Fan M, Pluta J, D'Andrea K, Hubert AP, Shilan JS, Zhou W, Kraya AA, Llop Guevara A, Ruan C, Serra V, Balmaña J, Feldman M, Morin PJ, Nayak A, Maxwell KN, Domchek SM, Nathanson KL.
    • Nat Commun. 2022 Nov 7;13(1):6728. doi: 10.1038/s41467-022-34523-y.

    Related:

    •• Research news: Details Emerge About Why Cancers Caused by BRCA Mutations Recur. (Inside Precision Medicine)

    • Multigene panel testing might explain the increased risk of secondary malignancies after radiotherapy in Japanese breast cancer patients.
    • Altundag K.
    • Breast Cancer Res Treat. 2022 Nov;196(2):439. doi: 10.1007/s10549-022-06742-w. Epub 2022 Sep 10.

    Related:

    Original research:

    Risk of secondary malignancy after radiotherapy for breast cancer: long-term follow-up of Japanese patients with breast cancer.

    • Trajectories of metabolic parameters after bilateral oophorectomy in premenopausal women.
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    • IN VIVO ASSIGNMENT OF METHYLMALONIC ACID IN BREAST TISSUE USING 2D MAGNETIC RESONANCE SPECTROSCOPY AND RELATIONSHIP WITH BREAST DENSITY, MENOPAUSAL STATUS AND CANCER RISK.
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    • Prevalence of BRCA1 and BRCA2 pathogenic variants in 8627 unselected patients with breast cancer: stratification of age at diagnosis, family history and molecular subtype.
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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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    • Características clínicas de pacientes con Cáncer de Mama y / o Cáncer de Ovario con mutaciones en los genes BRCA1 y BRCA2 en Córdoba, Argentina. [Clinical characteristics of patients with Breast and / or Ovarian Cancer with mutations in the BRCA1 and BRCA2 genes in Córdoba, Argentina.]
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    • Constitutional Mosaicism: A Critical Issue in the Definition of BRCA-Inherited Cancer Risk.
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    • Study Confirms BRCA1 and BRCA2 Linked to Seven Cancers.
    • Alexander W.
    • Medscape Oncology. 2022 Jul 12.

    Related:

    Original research:

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

    • Functions of Breast Cancer Predisposition Genes: Implications for Clinical Management.
    • Yoshimura A, Imoto I, Iwata H.
    • Int J Mol Sci. 2022 Jul 5;23(13):7481. doi: 10.3390/ijms23137481.
    • An Overview on Radiation Sensitivity in Hereditary Breast and Ovarian Cancer Syndrome.
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    • Occlusione intestinale maligna in una donna con carcinosi peritoneale da carcinoma ovarico sieroso di alto grado BRCA mutato: un caso clinico [Malignant bowel obstruction in peritoneal carcinosis from a serous ovarian carcinoma in a woman carrying high grade BRCA mutation: a case report].
    • Brofferio L, Gonella S.
    • Assist Inferm Ric. 2022 Jul-Sep;41(3):143-157. Italian. doi: 10.1702/3920.39050.
    • Case report. [Article in Italian]
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    • Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study.
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    • JCO Glob Oncol. 2022 Jul;8:e2200104. doi: 10.1200/GO.22.00104.
    • Bone health after RRBSO among BRCA1/2 mutation carriers: a population-based study.
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    • Germline mutations in Chinese ovarian cancer with or without breast cancer.
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    • EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer.
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    • A patient with relapsed high-grade serous ovarian carcinoma with somatic RAD51C mutations treated with PARPi monotherapy: a case report.
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    • Cancer Drug Resist. 2022 Jun 22;5(3):662-666. doi: 10.20517/cdr.2022.12.
    • Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer.
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    • The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.
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    • Common Multiple Primary Cancers Associated With Breast and Gynecologic Cancers and Their Risk Factors, Pathogenesis, Treatment and Prognosis: A Review.
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    • Associations of Plasma Bioactive Adrenomedullin Levels with Cardiovascular Risk Factors in BRCA1/2 Mutation Carriers.
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    • Geburtshilfe Frauenheilkd. 2022 Jun 3;82(6):601-609. doi: 10.1055/a-1811-2164.

    Related:

    Identifier: NCT02087592: Feasibility of Lifestyle Intervention in BRCA1/2 Mutation Carriers (LIBRE). (ClinicalTrials.gov)

    Identifier: NCT02516540: Efficacy of Lifestyle Intervention in BRCA1/2 Mutation Carriers (LIBRE-2). (ClinicalTrials.gov)

    • 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.

    Related:

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

    • A BRCA1 Splice Site Variant Responsible for Familial Ovarian Cancer in a Han-Chinese Family.
    • Hu PZ, Chen XY, Xiong W, Yang ZJ, Li XR, Deng WZ, Gong LN, Deng H, Yuan LM.
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    • Case report
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    • A Healthy Lifestyle in Men at Increased Genetic Risk for Prostate Cancer.
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    • Eur Urol. 2022 May 27:S0302-2838(22)02342-9. doi: 10.1016/j.eururo.2022.05.008. Epub ahead of print.
    • 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.
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    • Fam Cancer. 2022 May 21. doi: 10.1007/s10689-022-00296-y. Epub ahead of print.
    • Whole-Genome Sequencing Identifies PPARGC1A as a Putative Modifier of Cancer Risk in BRCA1/2 Mutation Carriers.
    • Zhu Q, Wang J, Yu H, Hu Q, Bateman NW, Long M, Rosario S, Schultz E, Dalgard CL, Wilkerson MD, Sukumar G, Huang RY, Kaur J, Lele SB, Zsiros E, Villella J, Lugade A, Moysich K, Conrads TP, Maxwell GL, Odunsi K.
    • Cancers (Basel). 2022 May 10;14(10):2350. doi: 10.3390/cancers14102350.
    • CDH1 germline mutations in families with hereditary lobular breast cancer.
    • Girardi A, Magnoni F, Vicini E, Kouloura A, La Vecchia C, Veronesi P, Corso G.
    • Eur J Cancer Prev. 2022 May 1;31(3):274-278. doi: 10.1097/CEJ.0000000000000688.
    • Review
    • Correlation between the risk of ovarian cancer and BRCA recurrent pathogenic variants in Japan.
    • Sekine M, Enomoto T, Arai M, Yokoyama S, Nomura H, Nishino K, Ikeuchi T, Kuriyama Y, Nakamura S; Registration Committee of the Japanese Organization of Hereditary Breast and Ovarian Cancer.
    • J Hum Genet. 2022 May;67(5):267-272. doi: 10.1038/s10038-021-01002-z. Epub 2022 Jan 4.
    • Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.
    • Molina-Zayas M, Garrido-Navas C, García-Puche JL, Barwell J, Pedrinaci S, Atienza MM, García-Linares S, de Haro-Muñoz T, Lorente JA, Serrano MJ, Poyatos-Andújar A.
    • Mol Genet Genomics. 2022 May;297(3):859-871. doi: 10.1007/s00438-022-01891-5. Epub 2022 Apr 22.
    • Dermatological and Dermoscopic Baselines in BRCA Mutation Carriers.
    • Paolino G, Pampena R, Di Nicola MR, Longo C, Rognone A, Zambelli S, Bianchini G, Mercuri SR.
    • Front Med (Lausanne). 2022 Apr 29;9:863468. doi: 10.3389/fmed.2022.863468.
    • 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.
    • Sci Rep. 2022 Apr 25;12(1):6704. doi: 10.1038/s41598-022-10519-y.
    • Oral Contraceptive Use in BRCA1 and BRCA2 Mutation Carriers: Absolute Cancer Risks and Benefits.
    • Schrijver LH, Mooij TM, Pijpe A, Sonke GS, Mourits MJE, Andrieu N, Antoniou AC, Easton DF, Engel C, Goldgar D, John EM, Kast K, Milne RL, Olsson H, Phillips KA, Terry MB, Hopper JL, van Leeuwen FE, Rookus MA.
    • J Natl Cancer Inst. 2022 Apr 11;114(4):540-552. doi: 10.1093/jnci/djac004.

    Related:

    Commentary:

    Oral Contraceptives and BRCA Cancer: A Balancing Act.

    • 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.

    Related:

    Commentary:

    Patchwork Cancer Predisposition.

    • Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey.
    • Bora E, Caglayan AO, Koc A, Cankaya T, Ozkalayci H, Kocabey M, Kemer D, Aksoy S, Alicikus ZA, Akin IB, Durak MG, Gurel D, Yavuzsen T, Sevinc A, Somali I, Gorken I, Balci P, Karaoglu A, Saydam S, Ulgenalp A.
    • Cancer Genet. 2022 Apr;262-263:118-133. doi: 10.1016/j.cancergen.2022.02.006. Epub 2022 Feb 16.
    • A comprehensive reference for BRCA1/2 genes pathogenic variants in Iran: published, unpublished and novel.
    • Majidzadeh-A K, Zarinfam S, Abdoli N, Yadegari F, Esmaeili R, Farahmand L, Teimourzadeh A, Taghizadeh M, Salehi M, Zamani M.
    • Fam Cancer. 2022 Apr;21(2):137-142. doi: 10.1007/s10689-021-00242-4. Epub 2021 Mar 23.
    • 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. 2022 Mar 15;128(6):1275-1283. doi: 10.1002/cncr.34056. Epub 2021 Dec 7.
    • Prevalence of BRCA1 and BRCA2 Germline Mutations in Patients of African Descent with Early-Onset and Familial Colombian Breast Cancer.
    • Vargas E, de Deugd R, Villegas VE, Gil F, Mora L, Viaña LF, Bruges R, Gonzalez A, Galvis JC, Hamann U, Torres D.
    • Oncologist. 2022 Mar 4;27(2):e151-e157. doi: 10.1093/oncolo/oyab026.
    • Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2-negative individuals who had genetic testing in a large urban comprehensive cancer center.
    • Tatineni S, Tarockoff M, Abdallah N, Purrington KS, Assad H, Reagle R, Petrucelli N, Simon MS.
    • Cancer Med. 2022 Mar;11(6):1465-1473. doi: 10.1002/cam4.4541. Epub 2022 Jan 17.
    • The risks of breast and ovarian cancer associated with the Ashkenazi Jewish founder allele BRCA2 6174delT.
    • Finch A, Metcalfe K, Akbari M, Friedman E, Tung N, Rosen B, Eisen A, Karlan B, Foulkes W, Neuhausen SL, Senter L, McKinnon W, Elser C, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group.
    • Clin Genet. 2022 Mar;101(3):317-323. doi: 10.1111/cge.14098. Epub 2022 Jan 26.
    • Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.
    • McGuigan A, Whitworth J, Andreou A, Hearn T; Genomics England Research Consortium, Tischkowitz M, Maher ER.
    • Eur J Hum Genet. 2022 Mar;30(3):265-270. doi: 10.1038/s41431-021-01013-6. Epub 2022 Jan 4.

    Related:

    Commentary:

    The simplest explanation does not have to be preferred: co-occurrence of pathogenic variants in cancer-predisposing genes.

    • Breast and prostate cancer risk: The interplay of polygenic risk, rare pathogenic germline variants, and family history.
    • Hassanin E, May P, Aldisi R, Spier I, Forstner AJ, Nöthen MM, Aretz S, Krawitz P, Bobbili DR, Maj C.
    • Genet Med. 2022 Mar;24(3):576-585. doi: 10.1016/j.gim.2021.11.009. Epub 2021 Nov 18.
    • Genetic predisposition to cancer across people of different ancestries in Qatar: a population-based, cohort study.
    • Saad M, Mokrab Y, Halabi N, Shan J, Razali R, Kunji K, Syed N, Temanni R, Subramanian M, Ceccarelli M; Qatar Genome Programme Research Consortium, Rafii Tabrizi A, Bedognetti D, Chouchane L.
    • Lancet Oncol. 2022 Mar;23(3):341-352. doi: 10.1016/S1470-2045(21)00752-X. Epub 2022 Feb 9.

    Related:

    Commentary:

    Genetic risk of cancer: a tale of diversity from the Middle East.

    Research news: Genetic Cancer Risk Varies by Ancestry in Qatari Population, New Analysis Finds. (GenomeWeb)

    Research news: Qatar Genome Program Reports Genetic Cancer Risk in Diverse Arab Populations. (Inside Precision Medicine)

    • Hereditary Breast and Ovarian Cancer: An Updated Primer for OB/GYNs.
    • Bellcross CA.
    • Obstet Gynecol Clin North Am. 2022 Mar;49(1):117-147. doi: 10.1016/j.ogc.2021.11.005.
    • Review
    • Predictors of cardiopulmonary fitness in cancer-affected and -unaffected women with a pathogenic germline variant in the genes BRCA1/2 (LIBRE-1).
    • Berling-Ernst A, Yahiaoui-Doktor M, Kiechle M, Engel C, Lammert J, Grill S, Dukatz R, Rhiem K, Baumann FT, Bischoff SC, Erickson N, Schmidt T, Niederberger U, Siniatchkin M, Halle M.
    • Sci Rep. 2022 Feb 21;12(1):2907. doi: 10.1038/s41598-022-06913-1.
    • 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

    Related:

    Original research:

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

    • Breast cancer risk in BRCA mutation carriers after diagnosis of epithelial ovarian cancer is lower than in carriers without ovarian cancer.
    • Nañez A, Stram DA, Bethan Powell C, Garcia C.
    • Gynecol Oncol Rep. 2021 Dec 4 [eCollection 2022 Feb];39:100899. doi: 10.1016/j.gore.2021.100899.
    • [SCREENING WOMEN AT HIGH RISK FOR BREAST CANCER - BRCA AND BEYOND].
    • Hermann N, Westergard S, McCready DR.
    • Harefuah. 2022 Feb;161(2):95-100. Hebrew.
    • [Article in Hebrew]
    • 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.
    • J Med Genet. 2022 Feb;59(2):133-140. doi: 10.1136/jmedgenet-2020-107356. Epub 2021 Feb 10.

    Related:

    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.
    • Genes (Basel). 2022 Jan 29;13(2):268. doi: 10.3390/genes13020268.
    • Population-Based Penetrance of Deleterious Clinical Variants.
    • Forrest IS, Chaudhary K, Vy HMT, Petrazzini BO, Bafna S, Jordan DM, Rocheleau G, Loos RJF, Nadkarni GN, Cho JH, Do R.
    • JAMA. 2022 Jan 25;327(4):350-359. doi: 10.1001/jama.2021.23686.

    Related:

    Press: Chance Most “Pathogenic” Variants Will Actually Cause Disease Is Low. (Inside Precision Medicine)

    Press: Pathogenic Variants in Disease-Causing Genes Have Low Penetrance on Average, Study Finds. (GenomeWeb)

    • Associations of genetic susceptibility to 16 cancers with risk of breast cancer overall and by intrinsic subtypes.
    • Choi J, Jia G, Wen W, Tao R, Long J, Shu XO, Zheng W.
    • HGG Adv. 2021 Dec 10 [eCollection 2022 Jan 13];3(1):100077. doi: 10.1016/j.xhgg.2021.100077.
    • Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort.
    • Tran VT, Nguyen ST, Pham XD, Phan TH, Nguyen VC, Nguyen HT, Nguyen HP, Doan PTT, Le TA, Nguyen BT, Jasmine TX, Nguyen DS, Nguyen HL, Nguyen NM, Do DX, Tran VU, Nguyen HHT, Le MP, Nguyen YN, Do TTT, Truong DK, Tang HS, Phan MD, Nguyen HN, Giang H, Tu LN.
    • Front Oncol. 2022 Jan 5;11:789659. doi: 10.3389/fonc.2021.789659.
    • Pregnancy induced hyperplasia of residual breast tissue following risk reducing contralateral mastectomy - simply interesting or a clinically important observation.
    • Pitiyarachchi O, Phillips KA, Friedlander M.
    • Cancer Treat Res Commun. 2022 Jan 1;30:100504. doi: 10.1016/j.ctarc.2021.100504. Epub ahead of print.
    • Mutations of BRCA1/2 Genes in the West of Turkey and Genotype-Phenotype Correlations.
    • Gun-Bilgic D, Aydin-Gumus A, Bilgic A, Cam FS.
    • Clin Lab. 2022 Jan 1;68(1). doi: 10.7754/Clin.Lab.2021.210425.
    • Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients.
    • Tsaousis GN, Papadopoulou E, Agiannitopoulos K, Pepe G, Tsoulos N, Boukovinas I, Floros T, Iosifidou R, Katopodi O, Koumarianou A, Markopoulos C, Papazisis K, Venizelos V, Kapsimalis A, Xepapadakis G, Psyrri A, Banu E, Eniu DT, Blidaru A, Stanculeanu DL, Ungureanu A, Ozmen V, Tansan S, Tekinel M, Yalcin S, Nasioulas G.
    • Cancer Genomics Proteomics. 2022 Jan-Feb;19(1):60-78. doi: 10.21873/cgp.20304.
    • Dominant-negative pathogenic variant BRIP1 c.1045G>C is a high-risk allele for non-mucinous epithelial ovarian cancer: a case-control study.
    • Flaum N, van Veen EM, Smith O, Amico S, Newman WG, Crosbie EJ, Edmondson R, Smith MJ, Evans DG.
    • Clin Genet. 2022 Jan;101(1):48-54. doi: 10.1111/cge.14068. Epub 2021 Oct 7.
    • 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.
    • Risk of cancer in heterozygous relatives of patients with Fanconi anemia.
    • McReynolds LJ, Giri N, Leathwood L, Risch MO, Carr AG, Alter BP.
    • Genet Med. 2022 Jan;24(1):245-250. doi: 10.1016/j.gim.2021.08.013. Epub 2021 Nov 30.
    • New Perspectives on the Recurrent Monoallelic Germline Mutations of DNA Repair and Checkpoint Genes and Clinical Variability.
    • Sahin I, Saat H.
    • Genet Test Mol Biomarkers. 2022 Jan;26(1):17-25. doi: 10.1089/gtmb.2021.0108.
    • 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.
    • Germline variant of BRCA1 c.5332G>A has clinical features of hereditary breast and ovarian cancer syndrome.
    • Saita C, Aruga T, Adachi M, Kumaki Y, Iwamoto N, Yonekura R, Nakatsugawa N, Inokuchi T, Ishiba T, Honda Y, Yamaguchi T.
    • Int Cancer Conf J. 2021 Sep 22 [2022 Jan];11(1):12-16. doi: 10.1007/s13691-021-00512-z.
    • Homologous Recombination Deficiencies and Hereditary Tumors.
    • Yamamoto H, Hirasawa A.
    • Int J Mol Sci. 2021 Dec 29;23(1):348. doi: 10.3390/ijms23010348.
    • Association of Family Cancer History With Pathogenic Variants in Specific Breast Cancer Susceptibility Genes.
    • Kurian AW, Abrahamse P, Ward KC, Hamilton AS, Deapen D, Berek JS, Hoang L, Yussuf A, Dolinsky J, Brown K, Slavin T, Hofer TP, Katz SJ.
    • JCO Precis Oncol. 2021 Dec 22;5:PO.21.00261. doi: 10.1200/PO.21.00261.
    • 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
    • Healthy lifestyle, genetic risk, and incidence of cancer: A prospective cohort study of 13 cancer types.
    • Byrne S, Boyle T, Ahmed M, Lee SH, Benyamin B, Hyppönen E.
    • medRxiv. 2021 Dec 7. doi: 10.1101/2021.12.07.21267341. Unpublished preprint.

    Related:

    News: Lifestyle Choices Can Influence Genetic Risks for Cancer. (Medscape Oncology)

    • A risk prediction tool for individuals with a family history of breast, ovarian, or pancreatic cancer: BRCAPANCPRO.
    • Blackford AL, Childs EJ, Porter N, Petersen GM, Rabe KG, Gallinger S, Borgida A, Syngal S, Cote ML, Schwartz AG, Goggins MG, Hruban RH, Parmigiani G, Klein AP.
    • Br J Cancer. 2021 Dec;125(12):1712-1717. doi: 10.1038/s41416-021-01580-x. Epub 2021 Oct 26.
    • Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.
    • Tudini E, Davidson AL, Dressel U, Andrews L, Antill Y, Crook A, Field M, Gattas M, Harris R, Kirk J, Pachter N, Salmon L, Susman R, Townshend S, Trainer AH, Tucker KM, Mitchell G, James PA, Ward RL, Mar Fan H, Poplawski NK, Spurdle AB.
    • J Med Genet. 2021 Dec;58(12):853-858. doi: 10.1136/jmedgenet-2020-107140. Epub 2020 Nov 9.
    • Somatic mosaics in hereditary tumor predisposition syndromes.
    • Steinke-Lange V, de Putter R, Holinski-Feder E, Claes KB.
    • Eur J Med Genet. 2021 Dec;64(12):104360. doi: 10.1016/j.ejmg.2021.104360. Epub 2021 Oct 13.
    • Most Genetic Counselors Encounter Discrepant Variant Classifications, Must Work Out Interpretations.
    • Curtin C.
    • Precision Oncology News. Diagnostics. Molecular Diagnostics. 2021 Nov 19.
    • Press, Conference report

    Related:

    Original research:

    Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.

    • Family history of breast cancer as a second primary malignancy in relatives: a nationwide cohort study.
    • Zheng G, Sundquist J, Sundquist K, Ji J.
    • BMC Cancer. 2021 Nov 12;21(1):1210. doi: 10.1186/s12885-021-08925-y.
    • What does the ‘breast cancer gene’ mean for men? For some, pancreatic and prostate cancer.
    • Simpson M.
    • FORCE. Blog. 2021 Nov 3.
    • Association of Premenopausal Bilateral Oophorectomy With Cognitive Performance and Risk of Mild Cognitive Impairment.
    • Rocca WA, Lohse CM, Smith CY, Fields JA, Machulda MM, Mielke MM.
    • JAMA Netw Open. 2021 Nov 1;4(11):e2131448. doi: 10.1001/jamanetworkopen.2021.31448.

    Related:

    Commentary:

    Long-term Risk of Cognitive Impairment and Dementia Following Bilateral Oophorectomy in Premenopausal Women-Time to Rethink Policies?

    • Concomitant diagnosis of endometrial and breast cancer - does the sequence matters?
    • Stern T, Peleg Hasson S, Saad A, Levanon K, Michaan N, Laskov I, Wolf I, Safra T.
    • Gynecol Oncol Rep. 2021 Sep 20;38:100863. doi: 10.1016/j.gore.2021.100863. eCollection 2021 Nov.
    • 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.
    • NPJ Breast Cancer. 2021 Oct 11;7(1):135. doi: 10.1038/s41523-021-00339-0.
    • Towards a CRISPeR understanding of homologous recombination with high-throughput functional genomics.
    • Hayward SB, Ciccia A.
    • Curr Opin Genet Dev. 2021 Sep 25;71:171-181. doi: 10.1016/j.gde.2021.08.006. Epub ahead of print.
    • Review
    • 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.
    • 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.
    • 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.

    Related:

    Commentary:

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

    • Risk of cardiovascular disease among women carrying BRCA mutations after risk-reducing bilateral salpingo-oophorectomy: A population-based study.
    • do Valle HA, Kaur P, Kwon JS, Cheifetz R, Dawson L, Hanley GE.
    • Gynecol Oncol. 2021 Sep;162(3):707-714. doi: 10.1016/j.ygyno.2021.06.022. Epub 2021 Jul 1.
    • 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.
    • Germline mutations in Black patients with ovarian, fallopian tube and primary peritoneal carcinomas.
    • Somasegar S, Weiss AS, Norquist BM, Khasnavis N, Radke M, Manhardt E, Pennil C, Pennington KP, Eckert MA, Chryplewicz A, Lengyel E, Swisher EM.
    • Gynecol Oncol. 2021 Aug 24:S0090-8258(21)01315-9. doi: 10.1016/j.ygyno.2021.08.017. Epub ahead of print.
    • 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.
    • 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.
    • 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.
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    Related:

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

    Original research:

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

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    Related:

    Blog post: Genetic Testing Challenges in Oncology: BRCA1-Positive Breast Cancer Patient Told She’s Negative. (My Gene Counsel)

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    Related:

    Letter, Comment:

    Reply to S. A. Narod et al.

    Original research:

    Pregnancy After Breast Cancer in Patients With Germline BRCA Mutations.

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    • J Clin Oncol. 2020 Sep 10;38(26):3012-3023. doi: 10.1200/JCO.19.02399. Epub 2020 Jul 16.

    Related:

    Letter, Commentary:

    In Response to "Pregnancy After Breast Cancer in Patients With Germline BRCA Mutations".

    Letter, Commentary:

    Reply to S. A. Narod et al.

    • Comparison Between Familial Colorectal Cancer Type X and Lynch Syndrome: Molecular, Clinical, and Pathological Characteristics and Pedigrees.
    • Xu Y, Li C, Zhang Y, Guo T, Zhu C, Xu Y, Liu F.
    • Front Oncol. 2020 Sep 2;10:1603. doi: 10.3389/fonc.2020.01603.
    • BRCA2 c.8827C>T pathogenic mutation in a consanguineous Chinese family with hereditary breast cancer.
    • Wang J, Qin J, Xi C, Zhang Y.
    • Mol Genet Genomic Med. 2020 Sep;8(9):e1411. doi: 10.1002/mgg3.1411. Epub 2020 Jul 20.
    • Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis.
    • Yoshida R.
    • Breast Cancer. 2020 Aug 29. doi: 10.1007/s12282-020-01148-2. Epub ahead of print.
    • Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency.
    • Chirita-Emandi A, Andreescu N, Popa C, Mihailescu A, Riza AL, Plesea R, Ioana M, Arghirescu S, Puiu M.
    • J Med Genet. 2020 Aug 25:jmedgenet-2020-107198. doi: 10.1136/jmedgenet-2020-107198. Epub ahead of print.
    • Case report
    • Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.
    • Fahed AC, Wang M, Homburger JR, Patel AP, Bick AG, Neben CL, Lai C, Brockman D, Philippakis A, Ellinor PT, Cassa CA, Lebo M, Ng K, Lander ES, Zhou AY, Kathiresan S, Khera AV.
    • Nat Commun. 2020 Aug 20;11(1):3635. doi: 10.1038/s41467-020-17374-3.

    Related:

    Research news: Polygenic Variation Affects Disease Risk From Monogenic Variants, Study Finds. (GenomeWeb)

    • Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer.
    • Hartman TR, Demidova EV, Lesh RW, Hoang L, Richardson M, Forman A, Kessler L, Speare V, Golemis EA, Hall MJ, Daly MB, Arora S.
    • Sci Rep. 2020 Aug 11;10(1):13518. doi: 10.1038/s41598-020-70449-5.
    • Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC).
    • El Ansari FZ, Jouali F, Marchoudi N, Bennani MM, Ghailani NN, Barakat A, Fekkak J.
    • BMC Cancer. 2020 Aug 10;20(1):747. doi: 10.1186/s12885-020-07250-0.
    • Frequency and spectrum of founder and non-founder BRCA1 and BRCA2 mutations in a large series of Russian breast cancer and ovarian cancer patients.
    • Sokolenko AP, Sokolova TN, Ni VI, Preobrazhenskaya EV, Iyevleva AG, Aleksakhina SN, Romanko AA, Bessonov AA, Gorodnova TV, Anisimova EI, Savonevich EL, Bizin IV, Stepanov IA, Krivorotko PV, Berlev IV, Belyaev AM, Togo AV, Imyanitov EN.
    • Breast Cancer Res Treat. 2020 Aug 9. doi: 10.1007/s10549-020-05827-8. Epub ahead of print.
    • Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.
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    • Penetrance of Breast and Ovarian Cancer in Women Who Carry a BRCA1/2 Mutation and Do Not Use Risk-Reducing Salpingo-Oophorectomy: An Updated Meta-Analysis.
    • Chen J, Bae E, Zhang L, Hughes K, Parmigiani G, Braun D, Rebbeck TR.
    • JNCI Cancer Spectr. 2020 Apr 23 [eCollection 2020 Aug.];4(4):pkaa029. doi: 10.1093/jncics/pkaa029.
    • Clinicopathological characteristics of gene-positive breast cancer in the United Arab Emirates.
    • Altinoz A, Al Ameri M, Qureshi W, Boush N, Nair SC, Abdel-Aziz A.
    • Breast. 2020 Jul 27;53:119-124. doi: 10.1016/j.breast.2020.07.005. Epub ahead of print.
    • Population genetic screening efficiently identifies carriers of autosomal dominant diseases.
    • Grzymski JJ, Elhanan G, Morales Rosado JA, Smith E, Schlauch KA, Read R, Rowan C, Slotnick N, Dabe S, Metcalf WJ, Lipp B, Reed H, Sharma L, Levin E, Kao J, Rashkin M, Bowes J, Dunaway K, Slonim A, Washington N, Ferber M, Bolze A, Lu JT.
    • Nat Med. 2020 Jul 27. doi: 10.1038/s41591-020-0982-5. Epub ahead of print.
    • BRCA1 and BRCA2 pathogenic variant carriers and endometrial cancer risk: A cohort study.
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    • Complex Characterization of Germline Large Genomic Rearrangements of the BRCA1 and BRCA2 Genes in High-Risk Breast Cancer Patients-Novel Variants from a Large National Center.
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    • MSK Researches Find High Prevalence of Germline Mutations in Patients With Early-Onset Cancers.
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    • GenomeWeb. 2020 Jun 22.
    • Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in BRCA1/2: A Review of Secondary Prevention Guidelines.
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    • J Oncol. 2020 Jun 20;2020:9873954. doi: 10.1155/2020/9873954.
    • 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.
    • Qin N, Wang Z, Liu Q, Song N, Wilson CL, Ehrhardt MJ, Shelton K, Easton J, Mulder H, Kennetz D, Edmonson MN, Rusch MC, Downing JR, Hudson MM, Nichols KE, Zhang J, Robison LL, Yasui Y.
    • J Clin Oncol. 2020 Jun 4:JCO1902760. doi: 10.1200/JCO.19.02760. Epub ahead of print.

    Related:

    Research news: Secondary Tumor Risk in Pediatric Cancer Survivors Linked to Germline Variants, Treatment Type. (GenomeWeb)

    • Double mutation of APC and BRCA1 in an Italian family.
    • Vietri MT, D'Elia G, Caliendo G, Casamassimi A, Resse M, Passariello L, Cioffi M, Molinari AM.
    • Cancer Genet. 2020 Jun;244:32-35. doi: 10.1016/j.cancergen.2020.04.074. Epub 2020 Apr 28.
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    • Executive Summary of the Early-Onset Breast Cancer Evidence Review Conference.
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    • Obstet Gynecol. 2020 Jun;135(6):1457-1478. doi: 10.1097/AOG.0000000000003889.
    • Ancestry-specific predisposing germline variants in cancer.
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    • Genome Med. 2020 May 29;12(1):51. doi: 10.1186/s13073-020-00744-3.
    • Clinicopathological characteristics of BRCA-associated breast cancer in Asian patients.
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    • A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families.
    • Capoluongo E, De Matteis E, Cucinotto I, Ronzino G, Santonocito C, Tornesello A, De Giorgio MR, Lucci Cordisco E, Minucci A, Genuardi M.
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    • Case report, Letter
    • Functional evaluation of five BRCA2 unclassified variants identified in a Sri Lankan cohort with inherited cancer syndromes using a mouse embryonic stem cell-based assay.
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    • Breast Cancer Res. 2020 May 11;22(1):43. doi: 10.1186/s13058-020-01272-z.
    • The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer.
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    • BMC Cancer. 2020 May 6;20(1):391. doi: 10.1186/s12885-020-06917-y.
    • Identifying Ashkenazi Jewish BRCA1/2 founder variants in individuals who do not self-report Jewish ancestry.
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    • Sci Rep. 2020 May 6;10(1):7669. doi: 10.1038/s41598-020-63466-x.
    • Tissue-Specific Carcinogens as Soil to Seed BRCA1/2-Mutant Hereditary Cancers.
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    • Review, Commentary
    • Prevalence of clinically actionable disease variants in exceptionally long-lived families.
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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.
    • Patel AP, Wang M, Fahed AC, Mason-Suares H, Brockman D, Pelletier R, Amr S, Machini K, Hawley M, Witkowski L, Koch C, Philippakis A, Cassa CA, Ellinor PT, Kathiresan S, Ng K, Lebo M, Khera AV.
    • JAMA Netw Open. 2020 Apr 1;3(4):e203959. doi: 10.1001/jamanetworkopen.2020.3959.

    Related:

    Press: Family History Insufficient to Determine High Risk of Gene-Linked CVD or Cancer. (Clinical OMICs)

    • Clinicopathological analysis of early-stage breast cancer patients that meet indications for BRCA1/2 genetic testing.
    • Xiang H, Xin L, Liu Q, Zhang H, Zhang S, Ye J, Cheng Y, Li T, Liu Y, Xu L.
    • Chin J Cancer Res. 2020 Apr;32(2):163-174. doi: 10.21147/j.issn.1000-9604.2020.02.04.
    • The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?
    • Høberg-Vetti H, Ognedal E, Buisson A, Vamre TBA, Ariansen S, Hoover JM, Eide GE, Houge G, Fiskerstrand T, Haukanes BI, Bjorvatn C, Knappskog PM.
    • Eur J Hum Genet. 2020 Mar 20. doi: 10.1038/s41431-020-0612-1. [Epub ahead of print]
    • Familial risk of breast cancer by dynamic, accumulative, and static definitions of family history.
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    • Cancer. 2020 Mar 10. doi: 10.1002/cncr.32815. [Epub ahead of print]
    • Use of oral contraceptives in BRCA mutation carriers and risk for ovarian and breast cancer: a systematic review.
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    • Arch Gynecol Obstet. 2020 Mar 5. doi: 10.1007/s00404-020-05458-w. [Epub ahead of print]
    • Review
    • Is hormonal therapy after risk-reducing salpingo-oophorectomy associated with an increased risk of malignancy in pathogenic variant carriers?
    • Mills KA, Joshi TV, West L, Kuznicki M, Kent L, Hokenstad AN, Cripe JC, Woolfolk C, Senter L, Bakkum-Gamez JN, Wenham RM, Cohn DE, Bae-Jump V, Thaker PH.
    • Gynecol Oncol. 2020 Mar 3. pii: S0090-8258(20)30179-7. doi: 10.1016/j.ygyno.2020.02.033. [Epub ahead of print]
    • [Breast cancer in six families from Tolima and Huila: BRCA1 3450del4 mutation].
    • Benavides J, Suárez J, Estrada A, Bohórquez M, Ramírez C, Olaya J, Sánchez Y, Mateus G, Carvajal L, Echeverry MM.
    • Biomedica. 2020 Mar 1;40(1):185-194. doi: 10.7705/biomedica.4673.
    • BRCA1/BRCA2 Pathogenic Variant Breast Cancer: Treatment and Prevention Strategies.
    • Lee A, Moon BI, Kim TH.
    • Ann Lab Med. 2020 Mar;40(2):114-121. doi: 10.3343/alm.2020.40.2.114.
    • Review

    Related:

    Introductory article:

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

    • Non-Surgical Cancer Risk Reduction in BRCA1 Mutation Carriers: Disabling the Remote Control.
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    • BMC Med Genomics. 2020 Feb 10;13(1):21. doi: 10.1186/s12920-019-0652-y.
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    • Genome Med. 2019 Dec 31;12(1):2. doi: 10.1186/s13073-019-0691-1.
    • Increased Overall Mortality Even after Risk Reducing Surgery for BRCA-Positive Women in Western Sweden.
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    • Spectrum and clinical relevance of PALB2 germline mutations in 7657 Chinese BRCA1/2-negative breast cancer patients.
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    • J Transl Med. 2019 Nov 14;17(1):374. doi: 10.1186/s12967-019-2122-x.
    • Incidence of germline BRCA1/2 mutations in women with tubo-ovarian high-grade serous carcinomas with and without serous tubal intra-epithelial carcinomas.
    • Dowson CB, Stewart C, O'Sullivan S, Pachter N, Schofield L, Cohen PA.
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    • The BRCA1 c.4096+3A>G Variant Displays Classical Characteristics of Pathogenic BRCA1 Mutations in Hereditary Breast and Ovarian Cancers, But Still Allows Homozygous Viability.
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    • Prevalence and founder effect of the BRCA1 p.(Val1833Met) variant in the Greek population, with further evidence for pathogenicity and risk modification.
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    Related:

    Commentary:

    New name for breast-cancer syndrome could help to save lives.

    • The NCCN Criterion "Young Age at Onset" Alone is Not an Indicator of Hereditary Breast Cancer in Iranian Population.
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    • A novel BRCA1 germline mutation promotes triple-negative breast cancer cells progression and enhances sensitivity to DNA damage agents.
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    • DNA Damage and Hormone Related Cancer: a repair pathway view.
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    • Hum Mol Genet. 2019 Aug 22. pii: ddz206. doi: 10.1093/hmg/ddz206. [Epub ahead of print]
    • Review
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    • BRCA mutation frequency and clinical features of ovarian cancer patients: A report from a Chinese study group.
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    Related:

    Letter:

    Cancer: more genetic BRCA testing for men.

    Press: New Name of 'King Syndrome' for Hereditary BRCA Mutations. (Medscape Oncology)

    • Low Prevalence of the Four Common Colombian Founder Mutations in BRCA1 and BRCA2 in Early-Onset and Familial Afro-Colombian Patients with Breast Cancer.
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    • Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.
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    • A young woman's story of genetic testing and risk-reducing mastectomy.
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    Related:

    Narrative: I Had a Preventive Mastectomy—Then Found Out I Already Had Breast Cancer. (Health)

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    Related:

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

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    • Yurgelun MB, Chittenden AB, Morales-Oyarvide V, Rubinson DA, Dunne RF, Kozak MM, Qian ZR, Welch MW, Brais LK, Da Silva A, Bui JL, Yuan C, Li T, Li W, Masuda A, Gu M, Bullock AJ, Chang DT, Clancy TE, Linehan DC, Findeis-Hosey JJ, Doyle LA, Thorner AR, Ducar MD, Wollison BM, Khalaf N, Perez K, Syngal S, Aguirre AJ, Hahn WC, Meyerson ML, Fuchs CS, Ogino S, Hornick JL, Hezel AF, Koong AC, Nowak JA, Wolpin BM.
    • Genet Med. 2019 Jan;21(1):213-223. doi: 10.1038/s41436-018-0009-5. Epub 2018 Jul 2.
    • BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
    • Cline MS, Liao RG, Parsons MT, Paten B, Alquaddoomi F, Antoniou A, Baxter S, Brody L, Cook-Deegan R, Coffin A, Couch FJ, Craft B, Currie R, Dlott CC, Dolman L, den Dunnen JT, Dyke SOM, Domchek SM, Easton D, Fischmann Z, Foulkes WD, Garber J, Goldgar D, Goldman MJ, Goodhand P, Harrison S, Haussler D, Kato K, Knoppers B, Markello C, Nussbaum R, Offit K, Plon SE, Rashbass J, Rehm HL, Robson M, Rubinstein WS, Stoppa-Lyonnet D, Tavtigian S, Thorogood A, Zhang C, Zimmermann M; BRCA Challenge Authors, Burn J, Chanock S, Rätsch G, Spurdle AB.
    • PLoS Genet. 2018 Dec 26;14(12):e1007752. doi: 10.1371/journal.pgen.1007752. eCollection 2018 Dec.

    Related:

    Research news:

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

    • Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families.
    • Castéra L, Harter V, Muller E, Krieger S, Goardon N, Ricou A, Rousselin A, Paimparay G, Legros A, Bruet O, Quesnelle C, Domin F, San C, Brault B, Fouillet R, Abadie C, Béra O, Berthet P; French Exome Project Consortium, Frébourg T, Vaur D.
    • Genet Med. 2018 Dec;20(12):1677-1686. doi: 10.1038/s41436-018-0005-9. Epub 2018 Jul 10.
    • Germline pathogenic variants identified in women with ovarian tumors.
    • 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.
    • Risk of cardiovascular disease in women with BRCA1 and BRCA2 mutations.
    • Powell CB, Alabaster A, Armstrong MA, Stoller N, Raine-Bennett T.
    • Gynecol Oncol. 2018 Dec;151(3):489-493. doi: 10.1016/j.ygyno.2018.10.010. Epub 2018 Oct 10.
    • Germline BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance associated with breast/ovarian cancer: a report from North India.
    • Mehta A, Vasudevan S, Sharma SK, Kumar D, Panigrahi M, Suryavanshi M, Gupta G.
    • Cancer Manag Res. 2018 Nov 30;10:6505-6516. doi: 10.2147/CMAR.S186563. eCollection 2018.
    • Non-Coding Variants in BRCA1 and BRCA2 Genes: Potential Impact on Breast and Ovarian Cancer Predisposition.
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    • The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations.
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    • Breast Cancer Res Treat. 2018 Nov;172(1):151-157. doi: 10.1007/s10549-018-4887-7. Epub 2018 Jul 16.
    • BRCA1/2 mutations, including large genomic rearrangements, among unselected ovarian cancer patients in Korea.
    • Kim DH, Cho CH, Kwon SY, Ryoo NH, Jeon DS, Lee W, Ha JS.
    • J Gynecol Oncol. 2018 Nov;29(6):e90. doi: 10.3802/jgo.2018.29.e90.
    • Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations.
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    • Mol Genet Genomic Med. 2018 Nov;6(6):1236-1242. doi: 10.1002/mgg3.460. Epub 2018 Aug 27.
    • 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.
    • Long-term mortality among women with epithelial ovarian cancer: a population-based study in British Columbia, Canada.
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    • BMC Cancer. 2018 Oct 25;18(1):1039. doi: 10.1186/s12885-018-4970-9.
    • Familial risks of second primary cancers and mortality in ovarian cancer patients.
    • Zheng G, Chattopadhyay S, Försti A, Sundquist K, Hemminki K.
    • Clin Epidemiol. 2018 Oct 11;10:1457-1466. doi: 10.2147/CLEP.S174173. eCollection 2018.
    • Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry.
    • Slavin TP, Van Tongeren LR, Behrendt CE, Solomon I, Rybak C, Nehoray B, Kuzmich L, Niell-Swiller M, Blazer KR, Tao S, Yang K, Culver JO, Sand S, Castillo D, Herzog J, Gray SW, Weitzel JN.
    • J Natl Cancer Inst. 2018 Oct 1;110(10):1059-1066. doi: 10.1093/jnci/djy027.

    Related:

    Introductory article, Editorial:

    The Ancestral Pace of Variant Reclassification.

    Related:

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

    • [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]
    • 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.
    • Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
    • Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Heather Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF.
    • JAMA Netw Open. 2018 Sep 21;1(5): e182140. doi: 10.1001/jamanetworkopen.2018.2140.

    Related:

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

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

    Related:

    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.
    • A Dietary Intervention to Lower Serum Levels of IGF-I in BRCA Mutation Carriers.
    • Pasanisi P, Bruno E, Venturelli E, Morelli D, Oliverio A, Baldassari I, Rovera F, Iula G, Taborelli M, Peissel B, Azzolini J, Manoukian S.
    • Cancers (Basel). 2018 Sep 4;10(9). pii: E309. doi: 10.3390/cancers10090309.
    • Clinicopathologic features and BRCA mutations in primary fallopian tube cancer in Japanese women.
    • Sakurada S, Watanabe Y, Tokunaga H, Takahashi F, Yamada H, Takehara K, Yaegashi N.
    • Jpn J Clin Oncol. 2018 Sep 1;48(9):794-798. doi: 10.1093/jjco/hyy095.
    • Change in Inflammatory Biomarkers and Adipose Tissue in BRCA1/2+ Breast Cancer Survivors Following a Yearlong Lifestyle Modification Program.
    • Sturgeon KM, Foo W, Heroux M, Schmitz K.
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    • Clinical outcomes of adolescents and young adults with advanced solid tumours participating in phase I trials.
    • Sundar R, McVeigh T, Dolling D, Petruckevitch A, Diamantis N, Ang JE, Chenard-Poiriér M, Collins D, Lim J, Ameratunga M, Khan K, Kaye SB, Banerji U, Lopez J, George AJ, de Bono JS, van der Graaf WT.
    • Eur J Cancer. 2018 Sep;101:55-61. doi: 10.1016/j.ejca.2018.06.003. Epub 2018 Jul 17.
    • A new pathogenic mutation of the BRCA1 gene in a patient with ovarian cancer: A case report.
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    • Medicine (Baltimore). 2018 Sep;97(38):e12371. doi: 10.1097/MD.0000000000012371.
    • BRCA1 and BRCA2 Mutations Other Than the Founder Alleles Among Ashkenazi Jewish in the Population of Argentina.
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    • Front Oncol. 2018 Aug 21;8:323. doi: 10.3389/fonc.2018.00323. eCollection 2018.
    • Frequent basal cell cancer development is a clinical marker for inherited cancer susceptibility.
    • Cho HG, Kuo KY, Li S, Bailey I, Aasi S, Chang ALS, Oro AE, Tang JY, Sarin KY.
    • JCI Insight. 2018 Aug 9;3(15). pii: 122744. doi: 10.1172/jci.insight.122744. eCollection 2018 Aug 9.
    • Family history of breast or prostate cancer and prostate cancer risk.
    • Barber LE, Gerke T, Markt SC, Peisch SF, Wilson KM, Ahearn TU, Giovannucci EL, Parmigiani G, Mucci LA.
    • Clin Cancer Res. 2018 Aug 6. pii: clincanres.0370.2018. doi: 10.1158/1078-0432.CCR-18-0370. [Epub ahead of print]
    • 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.

    Related:

    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)

    • Familial Ovarian Cancer Clusters with Other Cancers.
    • Zheng G, Yu H, Kanerva A, Försti A, Sundquist K, Hemminki K.
    • Sci Rep. 2018 Aug 1;8(1):11561. doi: 10.1038/s41598-018-29888-4.
    • 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.
    • Sputum Detection of Predisposing Genetic Mutations in Women with Pulmonary Nontuberculous Mycobacterial Disease.
    • Philley JV, Hertweck KL, Kannan A, Brown-Elliott BA, Wallace RJ Jr, Kurdowska A, Ndetan H, Singh KP, Miller EJ, Griffith DE, Dasgupta S.
    • Sci Rep. 2018 Jul 27;8(1):11336. doi: 10.1038/s41598-018-29471-x.
    • Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.
    • Chan GHJ, Ong PY, Low JJH, Kong HL, Ow SGW, Tan DSP, Lim YW, Lim SE, Lee SC.
    • Oncotarget. 2018 Jul 17;9(55):30649-30660. doi: 10.18632/oncotarget.25769. eCollection 2018 Jul 17.
    • Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
    • Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer , Casey , Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium, Tischkowitz MD, Maher ER.
    • Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14.
    • 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]
    • 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.
    • Penetrance estimates for BRCA1, BRCA2 (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk?
    • Evans DG, Woodward E, Harkness EF, Howell A, Plaskocinska I, Maher ER, Tischkowitz MD, Lalloo F.
    • J Med Genet. 2018 Jul;55(7):442-448. doi: 10.1136/jmedgenet-2017-105223. Epub 2018 Feb 26.
    • A multigene test could cost-effectively help extend life expectancy for women at risk of hereditary breast cancer-Reply to letter to the editor by Petelin et al.
    • Li Y, Devlin JJ.
    • Value Health. 2018 Jul;21(7):893-894. doi: 10.1016/j.jval.2018.02.010. Epub 2018 Apr 5.
    • Letter

    Related:

    Letter:

    Heterogeneity and Uncertainties Specific to Genome-Based Health Technological Assessments.

    Original Research:

    A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer.

    • Hereditary breast and ovarian cancer in Andalusian families: a genetic population study.
    • Pajares B, Porta J, Porta JM, Sousa CF, Moreno I, Porta D, Durán G, Vega T, Ortiz I, Muriel C, Alba E, Márquez A.
    • BMC Cancer. 2018 Jun 8;18(1):647. doi: 10.1186/s12885-018-4537-9.
    • The association between smoking and cancer incidence in BRCA1 and BRCA2 mutation carriers.
    • Ko KP, Kim SJ, Huzarski T, Gronwald J, Lubinski J, Lynch HT, Armel S, Park SK, Karlan B, Singer CF, Neuhausen SL, Narod SA, Kotsopoulos J; Hereditary Breast Cancer Clinical Study Group.
    • Int J Cancer. 2018 Jun 1;142(11):2263-2272. doi: 10.1002/ijc.31257. Epub 2018 Jan 25.
    • Malignant Abnormalities in Male BRCA Mutation Carriers: Results From a Prospectively Screened Cohort.
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    • JAMA Oncol. 2018 Jun 1;4(6):872-874. doi: 10.1001/jamaoncol.2018.0271.
    • The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?
    • Teixeira N, van der Hout A, Oosterwijk JC, Vos JR; HEBON, Devilee P, van Engelen K, Meijers-Heijboer H, van der Luijt RB, Kriege M, Mensenkamp AR, Rookus MA, van Roozendaal KE, Mourits MJE, de Bock GH.
    • Eur J Hum Genet. 2018 Jun;26(6):848-857. doi: 10.1038/s41431-018-0111-9. Epub 2018 Feb 26.
    • Screening for founder and recurrent BRCA mutations in Hong Kong and US Chinese populations.
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    • Hong Kong Med J. 2018 Jun;24 Suppl 3(3):4-6.
    • Role of BRCA1 in Neuronal Death in Alzheimer's Disease.
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    • Complex Medical Decision-Making for a Trans-Feminine Youth with a BRCA1 Mutation.
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    • LGBT Health. 2018 May/Jun;5(4):221-225. doi: 10.1089/lgbt.2017.0149.
    • Case report
    • A Trans-Feminine Youth with a BRCA1 Mutation: Case Study.
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    • LGBT Health. 2018 May/Jun;5(4):270-272. doi: 10.1089/lgbt.2017.0148. Epub 2018 May 11.
    • Letter, Case report
    • Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.
    • Buchanan AH, Manickam K, Meyer MN, Wagner JK, Hallquist MLG, Williams JL, Rahm AK, Williams MS, Chen ZE, Shah CK, Garg TK, Lazzeri AL, Schwartz MLB, Lindbuchler DM, Fan AL, Leeming R, Servano PO 3rd, Smith AL, Vogel VG, Abul-Husn NS, Dewey FE, Lebo MS, Mason-Suares HM, Ritchie MD, Davis FD, Carey DJ, Feinberg DT, Faucett WA, Ledbetter DH, Murray MF.
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    • Evaluation of the relative effectiveness of the 2017 updated Manchester scoring system for predicting BRCA1/2 mutations in a Southeast Asian country.
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    • J Med Genet. 2018 May;55(5):344-350. doi: 10.1136/jmedgenet-2017-105073. Epub 2017 Dec 23.
    • Pathogenic Germline Variants in 10,389 Adult Cancers.
    • Huang KL, Mashl RJ, Wu Y, Ritter DI, Wang J, Oh C, Paczkowska M, Reynolds S, Wyczalkowski MA, Oak N, Scott AD, Krassowski M, Cherniack AD, Houlahan KE, Jayasinghe R, Wang LB, Zhou DC, Liu D, Cao S, Kim YW, Koire A, McMichael JF, Hucthagowder V, Kim TB, Hahn A, Wang C, McLellan MD, Al-Mulla F, Johnson KJ; Cancer Genome Atlas Research Network, Lichtarge O, Boutros PC, Raphael B, Lazar AJ, Zhang W, Wendl MC, Govindan R, Jain S, Wheeler D, Kulkarni S, Dipersio JF, Reimand J, Meric-Bernstam F, Chen K, Shmulevich I, Plon SE, Chen F, Ding L.
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    • Cost effectiveness of population based BRCA1 founder mutation testing in Sephardi Jewish women.
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    • High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.
    • Alhuqail AJ, Alzahrani A, Almubarak H, Al-Qadheeb S, Alghofaili L, Almoghrabi N, Alhussaini H, Park BH, Colak D, Karakas B.
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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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    • Fanconi anaemia and cancer: an intricate relationship.
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    • Combined annotation-dependent depletion score for BRCA1/2 variants in patients with breast and/or ovarian cancer.
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    • Women with hereditary breast cancer predispositions should avoid using their smartphones, tablets, and laptops at night.
    • Mortazavi SAR, Mortazavi SMJ.
    • Iran J Basic Med Sci. 2018 Feb;21(2):112-115. doi: 10.22038/IJBMS.2018.27711.6751.
    • Men seeking counselling in a Breast Cancer Risk Evaluation Clinic.
    • Freitas AC1, Opinião A, Fragoso S, Nunes H, Santos M, Clara A, Bento S, Luis A, Silva J, Moura C, Filipe B, Machado P, Santos S, André S, Rodrigues P, Parreira J, Vaz F.
    • Ecancermedicalscience. 2018 Jan 30;12:804. doi: 10.3332/ecancer.2018.804. eCollection 2018.
    • 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.
    • Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.
    • Gardner SA, Weymouth KS, Kelly WS, Bogdanova E, Chen W, Lupu D, Suhl J, Zeng Q, Geigenmüller U, Boles D, Okamoto PM, McDowell G, Hayden MA, Nagan N.
    • Hered Cancer Clin Pract. 2018 Jan 4;16:1. doi: 10.1186/s13053-017-0083-8. eCollection 2018.
    • The importance of a well-structured pancreatic screening program for familial and hereditary pancreatic cancer.
    • Vasen HFA.
    • Fam Cancer. 2018 Jan;17(1):1-3. doi: 10.1007/s10689-017-0066-y.

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    • A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.
    • Cock-Rada AM, Ossa CA, Garcia HI, Gomez LR.
    • Fam Cancer. 2018 Jan;17(1):23-30. doi: 10.1007/s10689-017-0004-z.
    • The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
    • Moghadasi S, Meeks HD, Vreeswijk MP, Janssen LA, Borg Å, Ehrencrona H, Paulsson-Karlsson Y, Wappenschmidt B, Engel C, Gehrig A, Arnold N, Hansen TVO, Thomassen M, Jensen UB, Kruse TA, Ejlertsen B, Gerdes AM, Pedersen IS, Caputo SM, Couch F, Hallberg EJ, van den Ouweland AM, Collée MJ, Teugels E, Adank MA, van der Luijt RB, Mensenkamp AR, Oosterwijk JC, Blok MJ, Janin N, Claes KB, Tucker K, Viassolo V, Toland AE, Eccles DE, Devilee P, Van Asperen CJ, Spurdle AB, Goldgar DE, García EG.
    • J Med Genet. 2018 Jan;55(1):15-20. doi: 10.1136/jmedgenet-2017-104560. Epub 2017 May 10.
    • The Preventive Intervention of Hereditary Breast Cancer.
    • Cao A, Huang L, Shao Z.
    • Adv Exp Med Biol. 2017 [2017 Dec 28];1026:41-57. doi: 10.1007/978-981-10-6020-5_3.
    • Review
    • Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.
    • Hirasawa A, Imoto I, Naruto T, Akahane T, Yamagami W, Nomura H, Masuda K, Susumu N, Tsuda H, Aoki D.
    • Oncotarget. 2017 Nov 28;8(68):112258-112267. doi: 10.18632/oncotarget.22733. eCollection 2017 Dec 22.
    • Clinical testing with a panel of 25 genes associated with increased cancer risk results in a significant increase in clinically significant findings across a broad range of cancer histories.
    • Rosenthal ET, Bernhisel R, Brown K, Kidd J, Manley S.
    • Cancer Genet. 2017 Dec;218-219:58-68. doi: 10.1016/j.cancergen.2017.09.003. Epub 2017 Sep 25.
    • Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version. Introduction. Risk Factors for Breast Cancer.
    • PDQ Cancer Genetics Editorial Board.
    • PDQ Cancer Information Summaries [Internet]. Bethesda, MD: National Cancer Institute. Updated 2017 Nov 30. Accessed 2017 Dec 8.
    • Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version. Penetrance of Inherited Susceptibility to Hereditary Breast and/or Gynecologic Cancers.
    • PDQ Cancer Genetics Editorial Board.
    • PDQ Cancer Information Summaries [Internet]. Bethesda, MD: National Cancer Institute. Updated 2017 Nov 30. Accessed 2017 Dec 8.
    • Non-BRCA1/2 Breast Cancer Susceptibility Genes: A New Frontier with Clinical Consequences for Plastic Surgeons.
    • Frey JD, Salibian AA, Schnabel FR, Choi M, Karp NS.
    • Plast Reconstr Surg Glob Open. 2017 Nov 20;5(11):e1564. doi: 10.1097/GOX.0000000000001564. eCollection 2017 Nov.
    • Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1).
    • Harter P, Hauke J, Heitz F, Reuss A, Kommoss S, Marmé F, Heimbach A, Prieske K, Richters L, Burges A, Neidhardt G, de Gregorio N, El-Balat A, Hilpert F, Meier W, Kimmig R, Kast K, Sehouli J, Baumann K, Jackisch C, Park-Simon TW, Hanker L, Kröber S, Pfisterer J, Gevensleben H, Schnelzer A, Dietrich D, Neunhöffer T, Krockenberger M, Brucker SY, Nürnberg P, Thiele H, Altmüller J, Lamla J, Elser G, du Bois A, Hahnen E, Schmutzler R.
    • PLoS One. 2017 Oct 20;12(10):e0186043. doi: 10.1371/journal.pone.0186043. eCollection 2017.
    • Risk of uterine cancer for BRCA1 and BRCA2 mutation carriers.
    • Lee YC, Milne RL, Lheureux S, Friedlander M, McLachlan SA, Martin KL, Bernardini MQ, Smith C, Picken S, Nesci S, Hopper JL, Phillips KA; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab).
    • Eur J Cancer. 2017 Oct;84:114-120. doi: 10.1016/j.ejca.2017.07.004. Epub 2017 Aug 10.
    • Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.
    • Gabaldó Barrios X, Sarabia Meseguer MD, Marín Vera M, Sánchez Bermúdez AI, Macías Cerrolaza JA, Sánchez Henarejos P, Zafra Poves M, García Hernández MR, Cuevas Tortosa E, Aliaga Baño Á, Castillo Guardiola V, Martínez Hernández P, Tovar Zapata I, Martínez Barba E, Ayala de la Peña F, Alonso Romero JL, Noguera Velasco JA, Ruiz Espejo F.
    • Fam Cancer. 2017 Oct;16(4):477-489. doi: 10.1007/s10689-017-9985-x.
    • Breast Cancer Survival of BRCA1/BRCA2 Mutation Carriers in a Hospital-Based Cohort of Young Women.
    • Schmidt MK, van den Broek AJ, Tollenaar RA, Smit VT, Westenend PJ, Brinkhuis M, Oosterhuis WJ, Wesseling J, Janssen-Heijnen ML, Jobsen JJ, Jager A, Voogd AC, van Leeuwen FE, van 't Veer LJ.
    • J Natl Cancer Inst. 2017 Aug 1;109(8). doi: 10.1093/jnci/djw329.
    • Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers.
    • Kuchenbaecker KB, McGuffog L, Barrowdale D, Lee A, Soucy P, Dennis J, Domchek SM, Robson M, Spurdle AB, Ramus SJ, Mavaddat N, Terry MB, Neuhausen SL, Schmutzler RK, Simard J, Pharoah PD, Offit K, Couch FJ, Chenevix-Trench G, Easton DF, Antoniou AC.
    • J Natl Cancer Inst. 2017 Jul 1;109(7). doi: 10.1093/jnci/djw302.
    • BRCA-associated Cancers: Role of Imaging in Screening, Diagnosis, and Management.
    • Lee MV, Katabathina VS, Bowerson ML, Mityul MI, Shetty AS, Elsayes KM, Balachandran A, Bhosale PR, McCullough AE, Menias CO.
    • Radiographics. 2017 Jul-Aug;37(4):1005-1023. doi: 10.1148/rg.2017160144. Epub 2017 May 26.
    • Review
    • Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia.
    • Feben C, Spencer C, Lochan A, Laing N, Fieggen K, Honey E, Wainstein T, Krause A.
    • Fam Cancer. 2017 Jul;16(3):441-446. doi: 10.1007/s10689-017-9968-y.
    • Case report
    • Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral.
    • Lieberman S, Tomer A, Ben-Chetrit A, Olsha O, Strano S, Beeri R, Koka S, Fridman H, Djemal K, Glick I, Zalut T, Segev S, Sklair M, Kaufman B, Lahad A, Raz A, Levy-Lahad E.
    • Genet Med. 2017 Jul;19(7):754-762. doi: 10.1038/gim.2016.182. Epub 2016 Dec 8.
    • Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.
    • Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, Jervis S, van Leeuwen FE, Milne RL, Andrieu N, Goldgar DE, Terry MB, Rookus MA, Easton DF, Antoniou AC; and the BRCA1 and BRCA2 Cohort Consortium, McGuffog L, Evans DG, Barrowdale D, Frost D, Adlard J, Ong KR, Izatt L, Tischkowitz M, Eeles R, Davidson R, Hodgson S, Ellis S, Nogues C, Lasset C, Stoppa-Lyonnet D, Fricker JP, Faivre L, Berthet P, Hooning MJ, van der Kolk LE, Kets CM, Adank MA, John EM, Chung WK, Andrulis IL, Southey M, Daly MB, Buys SS, Osorio A, Engel C, Kast K, Schmutzler RK, Caldes T, Jakubowska A, Simard J, Friedlander ML, McLachlan SA, Machackova E, Foretova L, Tan YY, Singer CF, Olah E, Gerdes AM, Arver B, Olsson H./li>
    • JAMA. 2017 Jun 20;317(23):2402-2416. doi: 10.1001/jama.2017.7112.

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    Research news:

    Family history is strong risk factor in BRCA1 and BRCA2 carriers, study finds.

    Research news:

    Genetics: BRCA-mutant breast/ovarian cancer revealed.

    Press: Breast and ovarian cancers: Large study improves estimates of genetic risk. (Medical News Today)

    Press: Most Precise Estimates Ever of Cancer Risks With BRCA. (Medscape)

    • A Class of Environmental and Endogenous Toxins Induces BRCA2 Haploinsufficiency and Genome Instability.
    • Tan SLW, Chadha S, Liu Y, Gabasova E, Perera D, Ahmed K, Constantinou S, Renaudin X, Lee M, Aebersold R, Venkitaraman AR.
    • Cell. 2017 Jun 1;169(6):1105-1118.e15. doi: 10.1016/j.cell.2017.05.010.

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    Preview, Research news:

    Aldehydes Pose a Threat to BRCA2 Mutation Carriers.

    Research news:

    Aldehydes Promote BRCA2 Haploinsufficiency and Genomic Instability.

    Research report, Commentary:

    Thwarting endogenous stress: BRCA protects against aldehyde toxicity.

    • [Breast Cancer in Young Women - Correlation of Clinical Histomorphological, and Molecular-genetic Features of Breast Carcinoma in Women Younger than 35 Years of Age].
    • Metelková A, Skálová A, Fínek J.
    • Klin Onkol. 2017 Summer;30(3):202-209. doi: 10.14735/amko2017202.
    • Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.
    • Ryu JM, Kang G, Nam SJ, Kim SW, Yu J, Lee SK, Bae SY, Park S, Paik HJ, Kim JW, Park SS, Lee JE, Kim SW.
    • Breast. 2017 Jun;33:109-116. doi: 10.1016/j.breast.2017.03.006. Epub 2017 Mar 30.
    • Highlights of the San Antonio Breast Cancer Symposium 2016.
    • Benson JR, Jatoi I.
    • Future Oncol. 2017 Jun;13(15):1291-1295. doi: 10.2217/fon-2017-0088. Epub 2017 Jun 26.
    • Chronic Pancreatitis-Like Change in BRCA2 Mutation Carriers.
    • Mizrahi M, Tseng JF, Wong D, Tung N, Eskander MF, Berzin TM, Pleskow DK, Sawhney MS.
    • Pancreas. 2017 May/Jun;46(5):679-683. doi: 10.1097/MPA.0000000000000814.
    • Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.
    • Park B, Sohn JY, Yoon KA, Lee KS, Cho EH, Lim MC, Yang MJ, Park SJ, Lee MH, Lee SY, Chang YJ, Lee DO, Kong SY, Lee ES.
    • Breast Cancer Res Treat. 2017 May;163(1):139-150. doi: 10.1007/s10549-017-4142-7. Epub 2017 Feb 15.
    • Risk of breast cancer after a diagnosis of ovarian cancer in BRCA mutation carriers: Is preventive mastectomy warranted?
    • McGee J, Giannakeas V, Karlan B, Lubinski J, Gronwald J, Rosen B, McLaughlin J, Risch H, Sun P, Foulkes WD, Neuhausen SL, Kotsopoulos J, Narod SA; Hereditary Ovarian Cancer Clinical Study Group.
    • Gynecol Oncol. 2017 May;145(2):346-351. doi: 10.1016/j.ygyno.2017.02.032. Epub 2017 Mar 14.
    • A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer.
    • Li Y, Arellano AR, Bare LA, Bender RA, Strom CM, Devlin JJ.
    • Value Health. 2017 Apr;20(4):547-555. doi: 10.1016/j.jval.2017.01.006. Epub 2017 Feb 23.

    Letter:

    Heterogeneity and Uncertainties Specific to Genome-Based Health Technological Assessments.

    Letter:

    A multigene test could cost-effectively help extend life expectancy for women at risk of hereditary breast cancer-Reply to letter to the editor by Petelin et al.

    • Multiple primary cancers in BRCA 1/2 carriers - A review of literature and our observations.
    • Markowska A, Lubin J, Markowska J, Kasprzak B, Chajewska-Czekańska M, Madry R, Stawicka M.
    • Eur J Gynaecol Oncol. 2017;38(3):361-363.
    • Review
    • Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
    • He KY, Zhao Y, McPherson EW, Li Q, Xia F, Weng C, Wang K, He MM.
    • PLoS One. 2016 Dec 8;11(12):e0167847. doi: 10.1371/journal.pone.0167847. eCollection 2016.
    • Young premenopausal women with breast cancer, especially estrogen receptor negative, are at significantly increased risk for subsequent ovarian cancer.
    • Lehrer S, Rheinstein PH, Green S, Rosenzweig KE.
    • Discov Med. 2016 Oct;22(121):209-213.
    • The biological effects and clinical implications of BRCA mutations: where do we go from here?
    • Stoppa-Lyonnet D.
    • Eur J Hum Genet. 2016 Sep;24 Suppl 1:S3-9. doi: 10.1038/ejhg.2016.93.
    • BRCA1-hapoinsufficiency: Unraveling the molecular and cellular basis for tissue-specific cancer.
    • Sedic M, Kuperwasser C.
    • Cell Cycle. 2016 Mar 3;15(5):621-7. doi: 10.1080/15384101.2016.1141841.
    • Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.
    • Wong ESY, Shekar S, Met-Domestici M, Chan C, Sze M, Yap YS, Rozen SG, Tan MH, Ang P, Ngeow J, Lee ASG.
    • NPJ Genom Med. 2016 Jan 13;1:15003. doi: 10.1038/npjgenmed.2015.3. eCollection 2016.
    • Risk factors and biomarkers of life-threatening cancers.
    • Autier P.
    • Ecancermedicalscience. 2015 Nov 24;9:596. doi: 10.3332/ecancer.2015.596. eCollection 2015.
    • Patients Tested at a Laboratory for Hereditary Cancer Syndromes Show an Overlap for Multiple Syndromes in Their Personal and Familial Cancer Histories.
    • Saam J, Arnell C, Theisen A, Moyes K, Marino I, Roundy KM, Wenstrup RJ.
    • Oncology. [2015 Oct;]89(5):288-93. doi: 10.1159/000437307. Epub 2015 Aug 28.
    • Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
    • Yurgelun MB, Allen B, Kaldate RR, Bowles KR, Judkins T, Kaushik P, Roa BB, Wenstrup RJ, Hartman AR, Syngal S.
    • Gastroenterology. 2015 Sep;149(3):604-613.e20. doi: 10.1053/j.gastro.2015.05.006. Epub 2015 May 14.

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    Next Generation Multigene Panel Testing: The Next Step for Identification of Hereditary Colorectal Cancer Syndromes?

    • Molecular aspects of breast cancer resistance to drugs (Review).
    • Calaf GM, Zepeda AB, Castillo RL, Figueroa CA, Arias C, Figueroa E, Farías JG.
    • Int J Oncol. 2015 Aug;47(2):437-45. doi: 10.3892/ijo.2015.3055. Epub 2015 Jun 18.
    • Review
    • Synchronous Onset of Breast and Pancreatic Cancers: Results of Germline and Somatic Genetic Analysis.
    • Castro M, Vierkoetter K, Prager D, Montgomery S, Sedgwick K.
    • Case Rep Oncol. 2016 Jul 21;9(2):387-394.
    • Variability in Cancer Risk with BRCA Mutations.
    • [No authors listed]
    • Cancer Discov. 2015 Jul;5(7):OF16. doi: 10.1158/2159-8290.CD-NB2015-063. Epub 2015 May 7.
    • Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer.
    • Mantere T, Haanpää M, Hanenberg H, Schleutker J, Kallioniemi A, Kähkönen M, Parto K, Avela K, Aittomäki K, von Koskull H, Hartikainen JM, Kosma VM, Laasanen SL, Mannermaa A, Pylkäs K, Winqvist R.
    • Clin Genet. 2015 Jul;88(1):68-73. doi: 10.1111/cge.12447. Epub 2014 Jul 30.
    • Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup.
    • Miele E, Mastronuzzi A, Po A, Carai A, Alfano V, Serra A, Colafati GS, Strocchio L, Antonelli M, Buttarelli FR, Zani M, Ferraro S, Buffone A, Vacca A, Screpanti I, Giangaspero F, Giannini G, Locatelli F, Ferretti E.
    • Biomark Res. 2015 Jun 6;3:13. doi: 10.1186/s40364-015-0038-z. eCollection 2015.
    • Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features.
    • James PA, Sawyer S, Boyle S, Young MA, Kovalenko S, Doherty R, McKinley J, Alsop K, Beshay V, Harris M, Fox S, Lindeman GJ, Mitchell G.
    • Fam Cancer. 2015 Jun;14(2):287-95. doi: 10.1007/s10689-015-9785-0.
    • Letters from iceland.
    • [No authors listed]
    • Nat Genet. 2015 Apr 28;47(5):425. doi: 10.1038/ng.3277.

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

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

    • Population Distribution of Lifetime Risk of Ovarian Cancer in the United States.
    • Pearce CL, Stram DO, Ness RB, Stram DA, Roman LD, Templeman C, Lee AW, Menon U, Fasching PA, McAlpine JN, Doherty JA, Modugno F, Schildkraut JM, Rossing MA, Huntsman DG, Wu AH, Berchuck A, Pike MC, Pharoah PD.
    • Cancer Epidemiol Biomarkers Prev. 2015 Apr;24(4):671-6. doi: 10.1158/1055-9965.EPI-14-1128. Epub 2015 Jan 26.
    • A BRCA1-mutation associated DNA methylation signature in blood cells predicts sporadic breast cancer incidence and survival.
    • Anjum S, Fourkala EO, Zikan M, Wong A, Gentry-Maharaj A, Jones A, Hardy R, Cibula D, Kuh D, Jacobs IJ, Teschendorff AE, Menon U, Widschwendter M.
    • Genome Med. 2014 Jun 27;6(6):47. doi: 10.1186/gm567. eCollection 2014.

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    Press: Prospects for blood test to predict breast cancer risk. (PHG Foundation)

    • Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling.
    • Meyer S, Tischkowitz M, Chandler K, Gillespie A, Birch JM, Evans DG.
    • J Med Genet. 2014 Feb;51(2):71-5. doi: 10.1136/jmedgenet-2013-101642. Epub 2013 Nov 20.
    • BRCA1 and BRCA2 - update and implications on the genetics of breast cancer: a clinical perspective.
    • Foulkes W.
    • Clin Genet. 2014 Jan;85(1):1-4. doi: 10.1111/cge.12291. Epub 2013 Oct 25.
    • Editorial / Commentary
    • Clinical implications of genetic testing for BRCA1 and BRCA2 mutations in Austria.
    • Singer C, Muhr D, Rappaport C, Tea MK, Gschwantler-Kaulich D, Fink-Retter A, Pfeiler G, Berger A, Sun P, Narod S.
    • Clin Genet. 2014 Jan;85(1):72-5. doi: 10.1111/cge.12216. Epub 2013 Jul 16.
    • Central European BRCA2 mutation carriers: birth cohort status correlates with onset of breast cancer.
    • Tea MK, Kroiss R, Muhr D, Fuerhauser-Rappaport C, Oefner P, Wagner TM, Singer CF.
    • Maturitas. 2014 Jan;77(1):68-72. doi: 10.1016/j.maturitas.2013.09.012. Epub 2013 Oct 1.
    • Honing the Health Message on BRCA Mutations.
    • Schmidt C.
    • J Natl Cancer Inst. 2013 Dec 18;105(24):1843-4. doi: 10.1093/jnci/djt364. Epub 2013 Dec 6.
    • Increase in breast cancer gene screening: the Angelina Jolie effect.
    • Deborah Kotz.
    • Boston Globe. 2013 Dec 3.
    • Increased Rate of Phenocopies in All Age Groups in BRCA1/BRCA2 Mutation Kindred, but Increased Prospective Breast Cancer Risk Is Confined to BRCA2 Mutation Carriers.
    • Evans DG, Ingham SL, Buchan I, Woodward ER, Byers H, Howell A, Maher ER, Newman WG, Lalloo F.
    • Cancer Epidemiol Biomarkers Prev. 2013 Dec;22(12):2269-76. doi: 10.1158/1055-9965.EPI-13-0316-T. Epub 2013 Nov 27.

    Related:

    Comments on NSGC Discussion Forum Cancer SIG

    Subject: BRCA and "true negative"

    Subject: "True negative" not really "true negative"

    Subject: Article Request

    • Breast cancer in adolescents and young adults: a review with a focus on biology.
    • Tichy JR, Lim E, Anders CK.
    • J Natl Compr Canc Netw. 2013 Sep 1;11(9):1060-9.
    • Review
    • Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors.
    • Evans DG, Ingham SL.
    • Appl Clin Genet. 2013 Jul 24;6:53-61. doi: 10.2147/TACG.S35605. Print 2013.
    • Optimal age to start preventive measures in women with BRCA1/2 mutations or high familial breast cancer risk.
    • Tilanus-Linthorst MM, Lingsma HF, Evans DG, Thompson D, Kaas R, Manders P, van Asperen CJ, Adank M, Hooning MJ, Kwan Lim GE, Eeles R, Oosterwijk JC, Leach MO, Steyerberg EW.
    • Int J Cancer. 2013 Jul;133(1):156-63. doi: 10.1002/ijc.28014. Epub 2013 Feb 13.
    • Proven non-carriers in BRCA families have an earlier age of onset of breast cancer.
    • Vos JR, de Bock GH, Teixeira N, van der Kolk DM, Jansen L, Mourits MJ, Oosterwijk JC.
    • Eur J Cancer. 2013 Jun;49(9):2101-6. doi: 10.1016/j.ejca.2013.02.018. Epub 2013 Mar 13.
    • The prevalence of BRCA mutations among familial breast cancer patients in Korea: results of the Korean Hereditary Breast Cancer study.
    • Han SA, Kim SW, Kang E, Park SK, Ahn SH, Lee MH, Nam SJ, Han W, Bae YT, Kim HA, Cho YU, Chang MC, Paik NS, Hwang KT, Kim SJ, Noh DY, Choi DH, Noh WC, Kim LS, Kim KS, Suh YJ, Lee JE, Jung Y, Moon BI, Yang JH, Son BH, Yom CK, Kim SY, Lee H, Jung SH; KOHBRA Research Group and the Korean Breast Cancer Society.
    • Fam Cancer. 2013 Mar;12(1):75-81. doi: 10.1007/s10689-012-9578-7.
    • Evidence That BRCA1- or BRCA2-Associated Cancers Are Not Inevitable.
    • Levin B, Lech D, Friedenson B.
    • Mol Med. 2012 Dec 6;18:1327-37. doi: 10.2119/molmed.2012.00280.
    • Associations between BRCA Mutations in High-Risk Breast Cancer Patients and Familial Cancers Other than Breast or Ovary.
    • Noh JM, Choi DH, Baek H, Nam SJ, Lee JE, Kim JW, Ki CS, Park W, Huh SJ.
    • J Breast Cancer. 2012 Sep;15(3):283-7. doi: 10.4048/jbc.2012.15.3.283. Epub 2012 Sep 28.
    • Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
    • Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.
    • Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

    Related:

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: articles needed

    • A seldom case of primary urethral malignant melanoma and breast cancer detected by (18)F-FDG PET/CT.
    • Agrawal KL, Mittal BR, Manohar K, Bhattacharya A, Kumar S, Singh SK.
    • Hell J Nucl Med. 2012 May-Aug;15(2):157-8. doi: 10.1967/s002449910036. Epub 2012 Jun 27.
    • A surveillance conundrum: a case of 4 distinct primary malignancies in a BRCA-1 mutation carrier.
    • Ricci S, Shafer A, Nerenstone S, Mandavilli S, Sorosky J.
    • Int J Gynecol Pathol. 2012 Mar;31(2):145-8. doi: 10.1097/PGP.0b013e318227ad58.
    • Case Report
    • Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing.
    • De Leeneer K, Coene I, Crombez B, Simkens J, Van den Broecke R, Bols A, Stragier B, Vanhoutte I, De Paepe A, Poppe B, Claes K.
    • Breast Cancer Res Treat. 2012 Feb;132(1):87-95. doi: 10.1007/s10549-011-1544-9. Epub 2011 May 7.
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