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    • Financial toxicity in BRCA1 and BRCA2 carriers.
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    • Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
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    • Case report
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    • Reversion mutations in germline BRCA1/2-mutant tumors reveal a BRCA-mediated phenotype in non-canonical histologies.
    • Murciano-Goroff YR, Schram AM, Rosen EY, Won H, Gong Y, Noronha AM, Janjigian YY, Stadler ZK, Chang JC, Yang SR, Mandelker D, Offit K, Berger MF, Donoghue MTA, Bandlamudi C, Drilon A.
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    • Oocyte Quality Assessment in Breast Cancer: Implications for Fertility Preservation.
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    • A genome-wide association study of mammographic texture variation.
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    • A common IGF1R gene variant predicts later life breast cancer risk in women with preeclampsia.
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    • Relationship between Baseline [18F]FDG PET/CT Semiquantitative Parameters and BRCA Mutational Status and Their Prognostic Role in Patients with Invasive Ductal Breast Carcinoma.
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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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    • Frequent cleft lip and palate in families with pathogenic germline CDH1 variants.
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    • Inherited heterozygous Fanconi anemia gene mutations in a therapy-related CMML patient with a rare NUP98-HOXC11 fusion: a case report and literature review.
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    • Fanconi Anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood.
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    • Comment, Letter

    Reply, Letter:

    Hereditary Cancer Syndromes-A Broader Clinical Spectrum Than Previously Understood?-Reply.

    Original research:

    Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.

    • Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to FANCD1/BRCA2 during adulthood: description of an emerging phenotype.
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    • Review
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    • Dual BRCA1 and BRCA2 pathogenic variants in an adolescent with syndromic intellectual disability.
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    • Clin Case Rep. 2022 Aug 8;10(8):e6202. doi: 10.1002/ccr3.6202.
    • Identification of Two Genetic Loci Associated with Leukopenia after Chemotherapy in Breast Cancer Patients.
    • Fasching PA, Liu D, Scully S, Ingle JN, Lyra PC, Rack B, Hein A, Ekici AB, Reis A, Schneeweiss A, Tesch H, Fehm TN, Heinrich G, Beckmann MW, Ruebner M, Huebner H, Lambrechts D, Madden E, Shen J, Romm J, Doheny K, Jenkins GD, Carlson EE, Li L, Fridley BL, Cunningham JM, Janni W, Monteiro ANA, Schaid DJ, Häberle L, Weinshilboum RM, Wang L.
    • Clin Cancer Res. 2022 Aug 2;28(15):3342-3355. doi: 10.1158/1078-0432.CCR-20-4774.
    • Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
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    Research news:

    Novel Germline Loci Are Associated with Clonal Hematopoiesis Risk.

    Research news: New Clonal Hematopoiesis Genetic Risk Loci Identified in UK Biobank Study. (Precision Oncology News)

    • Fertility Counseling in BRCA1/2-Mutated Women with Breast Cancer and Healthy Individuals.
    • Kufel-Grabowska J, Podolak A, Maliszewski D, Bartoszkiewicz M, Ramlau R, Lukaszuk K.
    • J Clin Med. 2022 Jul 10;11(14):3996. doi: 10.3390/jcm11143996.
    • Effect of risk-reducing salpingo-oophorectomy on sex steroid hormone serum levels among postmenopausal women: an NRG Oncology/Gynecologic Oncology Group study.
    • Mai PL, Miller A, Black A, Falk RT, Boggess JF, Tucker K, Stuckey AR, Rodriguez GC, Wong C, Amatruda TT, Wilkinson KJ, Modesitt SC, Yamada SD, Bixel KL, Glaser GE, Rose PG, Greene MH, Sherman ME.
    • Am J Obstet Gynecol. 2022 Jul;227(1):61.e1-61.e18. doi: 10.1016/j.ajog.2022.02.022. Epub 2022 Feb 22.
    • Subfertility, use of fertility treatments and BRCA mutation status and the risk of ovarian cancer.
    • Lerner-Geva L, Chetrit A, Farhi A, Lubin F, Sadezki S; National Israel Ovarian Cancer Study Group.
    • Arch Gynecol Obstet. 2022 Jul;306(1):209-217. doi: 10.1007/s00404-021-06355-6. Epub 2022 Jan 18.
    • Bone health after RRBSO among BRCA1/2 mutation carriers: a population-based study.
    • do Valle HA, Kaur P, Kwon JS, Cheifetz R, Dawson L, Hanley GE.
    • J Gynecol Oncol. 2022 Jul;33(4):e51. doi: 10.3802/jgo.2022.33.e51. Epub 2022 Mar 30.
    • BRCA Variants Do Not Increase the Risk of Adverse Reactions in Patients With Ovarian Cancer: A Single-Center Real-World Study.
    • Li K, Zeng J, Zhang M, Yin R, Li Z.
    • Front Oncol. 2022 Jun 30;12:807748. doi: 10.3389/fonc.2022.807748.
    • Antiprogestins reduce epigenetic field cancerization in breast tissue of young healthy women.
    • Bartlett TE, Evans I, Jones A, Barrett JE, Haran S, Reisel D, Papaikonomou K, Jones L, Herzog C, Pashayan N, Simões BM, Clarke RB, Evans DG, Ghezelayagh TS, Ponandai-Srinivasan S, Boggavarapu NR, Lalitkumar PG, Howell SJ, Risques RA, Rådestad AF, Dubeau L, Gemzell-Danielsson K, Widschwendter M.
    • Genome Med. 2022 Jun 15;14(1):64. doi: 10.1186/s13073-022-01063-5.

    EudraCT number: 2009-009014-40: Pre-treatment with Mifepristone prior to Mirena insertion for optimizing bleeding pattern in pre-menopausal women. (EU Clinical Trials Register)

    Identifier: NCT01898312: BRCA1/2 and Effect of Mifepristone on the Breast. (ClinicalTrials.gov)

    EudraCT number: 2015-001587-19: A pilot prevention study of the effects of the anti-progestin Ulipristal Acetate (UA) on surrogate markers of breast cancer risk. (EU Clinical Trials Register)

    • Associations of Plasma Bioactive Adrenomedullin Levels with Cardiovascular Risk Factors in BRCA1/2 Mutation Carriers.
    • Lammert J, Basrai M, Struck J, Hartmann O, Engel C, Bischoff SC, Berling-Ernst A, Halle M, Kiechle M, Grill S.
    • Geburtshilfe Frauenheilkd. 2022 Jun 3;82(6):601-609. doi: 10.1055/a-1811-2164.

    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)

    • Are Mutation Carrier Patients Different from Non-Carrier Patients? Genetic, Pathology, and US Features of Patients with Breast Cancer.
    • Pintican RM, Chiorean A, Duma M, Feier D, Szep M, Eniu D, Goidescu I, Dudea S.
    • Cancers (Basel). 2022 Jun 2;14(11):2759. doi: 10.3390/cancers14112759.
    • Genetic Aspects of Mammographic Density Measures Associated with Breast Cancer Risk.
    • Li S, Nguyen TL, Nguyen-Dumont T, Dowty JG, Dite GS, Ye Z, Trinh HN, Evans CF, Tan M, Sung J, Jenkins MA, Giles GG, Hopper JL, Southey MC.
    • Cancers (Basel). 2022 Jun 2;14(11):2767. doi: 10.3390/cancers14112767.
    • Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.
    • Zeng C, Bastarache LA, Tao R, Venner E, Hebbring S, Andujar JD, Bland ST, Crosslin DR, Pratap S, Cooley A, Pacheco JA, Christensen KD, Perez E, Zawatsky CLB, Witkowski L, Zouk H, Weng C, Leppig KA, Sleiman PMA, Hakonarson H, Williams MS, Luo Y, Jarvik GP, Green RC, Chung WK, Gharavi AG, Lennon NJ, Rehm HL, Gibbs RA, Peterson JF, Roden DM, Wiesner GL, Denny JC.
    • JAMA Oncol. 2022 Jun 1;8(6):835-844. doi: 10.1001/jamaoncol.2022.0373.

    Commentary:

    A Phenome-Wide Association Study and the Discovery of a New Clinical Spectrum of Hereditary Cancer Genes.

    Comment, Letter:

    Hereditary Cancer Syndromes—A Broader Clinical Spectrum Than Previously Understood?

    Reply, Letter:

    Hereditary Cancer Syndromes-A Broader Clinical Spectrum Than Previously Understood?-Reply.

    Research news: Phenome-Wide Association Study Links Hereditary Cancer Genes to Additional Phenotypes. (GenomeWeb)

    • Fanconi anemia gene-associated germline predisposition in aplastic anemia and hematologic malignancies.
    • Nie D, Zhang J, Wang F, Li X, Liu L, Zhang W, Cao P, Chen X, Zhang Y, Chen J, Ma X, Zhou X, Wu Q, Liu M, Liu M, Tian W, Liu H.
    • Front Med. 2022 Jun;16(3):459-466. doi: 10.1007/s11684-021-0841-x. Epub 2021 Nov 6.
    • Association between Breast Cancer Polygenic Risk Score and Chemotherapy-Induced Febrile Neutropenia: Null Results.
    • Ong SS, Ho PJ, Khng AJ, Lim EH, Wong FY, Tan BK, Lim SH, Tan EY, Tan SM, Tan VKM, Dent R, Tan TJY, Ngeow J, Madhukumar P, Hamzah JLB, Sim Y, Lim GH, Pang JS, Alcantara VS, Chan PMY, Chen JJC, Kuah S, Seah JCM, Buhari SA, Tang SW, Ng CWQ, Li J, Hartman M.
    • Cancers (Basel). 2022 May 31;14(11):2714. doi: 10.3390/cancers14112714.
    • Promotion Effects of Smoking in Polyp Development in Monozygotic Twins with Atypical Colorectal Polyposis.
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    • Case Rep Gastroenterol. 2022 Jun 13 [eCollection 2022 May-Aug];16(2):375-381. doi: 10.1159/000524944.
    • Hereditary breast cancer and fertility preservation outcomes.
    • Arab S, Tulandi T, Buckett W.
    • J Assist Reprod Genet. 2022 May;39(5):1163-1168. doi: 10.1007/s10815-022-02486-0. Epub 2022 Apr 11.
    • 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.
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    • Rare coding variants in DNA damage repair genes associated with timing of natural menopause.
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    • Delineating the role of osteoprotegerin as a marker of breast cancer risk among women with a BRCA1 mutation.
    • Park SS, Uzelac A, Kotsopoulos J.
    • Hered Cancer Clin Pract. 2022 Apr 13;20(1):14. doi: 10.1186/s13053-022-00223-3.
    • Clonal Hematopoiesis-Associated Gene Mutations in a Clinical Cohort of 448 Patients With Ovarian Cancer.
    • Weber-Lassalle K, Ernst C, Reuss A, Möllenhoff K, Baumann K, Jackisch C, Hauke J, Dietrich D, Borde J, Park-Simon TW, Hanker L, Prieske K, Schmidt S, Weber-Lassalle N, Pohl-Rescigno E, Kommoss S, Marmé F, Heitz F, Stingl JC, Schmutzler RK, Harter P, Hahnen E.
    • J Natl Cancer Inst. 2022 Apr 11;114(4):565-570. doi: 10.1093/jnci/djab231.

    Commentary:

    Untangling the Relationship Between Clonal Hematopoiesis and Ovarian Cancer Therapies.

    • Cancer in children with biallelic BRCA1 variants and Fanconi anemia-like features: Report of a malignant brain tumor in a young child.
    • Borlin PR, Brazzola P, Frontzek K, Zanoni P, Morscher RJ, Hench J, Frank S, Kottke R, Rushing EJ, Goeggel Simonetti B, Steindl K, Guerreiro Stucklin AS.
    • Pediatr Blood Cancer. 2022 Apr 4:e29680. doi: 10.1002/pbc.29680. Epub ahead of print.
    • Case report
    • BRCA1: An Endocrine and Metabolic Regulator.
    • Werner H.
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    • Influence of cellular models and individual factor in the biological response to chest CT scan exams.
    • Devic C, Bodgi L, Sonzogni L, Pilleul F, Ribot H, Charry C, Le Moigne F, Paul D, Carbillet F, Munier M, Foray N.
    • Eur Radiol Exp. 2022 Mar 17;6(1):14. doi: 10.1186/s41747-022-00266-0.
    • A multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes.
    • Mortlock S, Corona RI, Kho PF, Pharoah P, Seo JH, Freedman ML, Gayther SA, Siedhoff MT, Rogers PAW, Leuchter R, Walsh CS, Cass I, Karlan BY, Rimel BJ; Ovarian Cancer Association Consortium, International Endometriosis Genetics Consortium, Montgomery GW, Lawrenson K, Kar SP.
    • Cell Rep Med. 2022 Mar 15;3(3):100542. doi: 10.1016/j.xcrm.2022.100542.

    Research news: Ovarian Cancer Subtypes, Endometriosis Show Genetic Overlap in Study. (GenomeWeb)

    • Familial Aspects of Mammographic Density Measures Associated with Breast Cancer Risk.
    • Nguyen TL, Li S, Dowty JG, Dite GS, Ye Z, Nguyen-Dumont T, Trinh HN, Evans CF, Tan M, Sung J, Jenkins MA, Giles GG, Southey MC, Hopper JL.
    • Cancers (Basel). 2022 Mar 14;14(6):1483. doi: 10.3390/cancers14061483.
    • Treatment Patterns, Safety, and Patient Reported Outcomes among Adult Women with Human Epidermal Growth Factor Receptor 2–Negative Advanced Breast Cancer with or without or with Unknown BRCA1/2 Mutation(s): Results of a Real-World Study from the United States, United Kingdom, and Four EU Countries.
    • Lux MP, Lewis K, Rider A, Niyazov A.
    • Breast Care (Basel). 2022 Mar 11. doi: 10.1159/000523970. Epub ahead of print.
    • Axillary lymphadenopathy in a high-risk breast screening patient following the COVID-19 vaccine: a diagnostic conundrum.
    • Musaddaq B, Brown A, Dluzewski S, Marafioti T, Malhotra A.
    • BJR Case Rep. 2022 Mar 9;7(6):20210063. doi: 10.1259/bjrcr.20210063.
    • The Impact of Mediterranean Dietary Intervention on Metabolic and Hormonal Parameters According to BRCA1/2 Variant Type.
    • Oliverio A, Radice P, Colombo M, Paradiso A, Tommasi S, Daniele A, Terribile DA, Magno S, Guarino D, Manoukian S, Peissel B, Bruno E, Pasanisi P.
    • Front Genet. 2022 Mar 9;13:820878. doi: 10.3389/fgene.2022.820878.
    • Ovarian stimulation for fertility treatments and risk of breast cancer: a matched cohort study.
    • Machtinger R, Fallach N, Goldstein I, Chodick G, Schiff E, Orvieto R, Mashiach R.
    • Hum Reprod. 2022 Mar 1;37(3):577-585. doi: 10.1093/humrep/deab270.
    • Single-cell analysis of somatic mutation burden in mammary epithelial cells of pathogenic BRCA1/2 mutation carriers.
    • Sun S, Brazhnik K, Lee M, Maslov AY, Zhang Y, Huang Z, Klugman S, Park BH, Vijg J, Montagna C.
    • J Clin Invest. 2022 Mar 1;132(5):e148113. doi: 10.1172/JCI148113.
    • Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums.
    • Muthusamy K, El-Jabali A, Ongie LJ, Dhamija R, Babovic-Vuksanovic D.
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    • Case report
    • Predictive and prognostic significance of BRCAness in HER2-negative breast cancer.
    • Sueta A, Yamamoto-Ibusuki M, Tomiguchi M, Fujiki Y, Goto-Yamaguchi L, Iwase H, Yamamoto Y.
    • Breast Cancer. 2022 Mar;29(2):368-376. doi: 10.1007/s12282-021-01319-9. Epub 2022 Jan 5.
    • Impact of BRCA mutations and hormone receptor status on reproductive potential in breast cancer patients undergoing fertility preservation.
    • Kim SW, Kim TH, Han JY, Kim SK, Lee JR, Jee UC, Suh CS, Kim SH.
    • Gynecol Endocrinol. 2022 Mar;38(3):227-230. doi: 10.1080/09513590.2021.2002294. Epub 2021 Nov 13.
    • Computerized morphometry analysis of epithelial fimbriae nuclear symmetry in BRCA carriers may identify patients at risk for developing ovarian cancer.
    • Amit A, Sabo E, Petruseva A, Stroller L, Reiss A, Klorin G.
    • Microsc Res Tech. 2022 Mar;85(3):892-899. doi: 10.1002/jemt.23958. Epub 2021 Oct 9.
    • The neglected members of the family: non-BRCA mutations in the Fanconi anemia/BRCA pathway and reproduction.
    • Vanni VS, Campo G, Cioffi R, Papaleo E, Salonia A, Viganò P, Lambertini M, Candiani M, Meirow D, Orvieto R.
    • Hum Reprod Update. 2022 Feb 28;28(2):296-311. doi: 10.1093/humupd/dmab045.
    • Review
    • Incidence and Prevalence of Intraductal Papillary Mucinous Neoplasms in Individuals With BRCA1 and BRCA2 Pathogenic Variant.
    • Shah I, Silva-Santisteban A, Germansky KA, Wadhwa V, Tung N, Huang DC, Kandasamy C, Mlabasati J, Bilal M, Sawhney MS.
    • J Clin Gastroenterol. 2022 Feb 28. doi: 10.1097/MCG.0000000000001683. Epub ahead of print.
    • 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.
    • Next-Generation Sequencing Reveals a Very Low Prevalence of Deleterious Mutations of Homologous Recombination Repair Genes and Homologous Recombination Deficiency in Ovarian Clear Cell Carcinoma.
    • Liu H, Zhang Z, Chen L, Pang J, Wu H, Liang Z.
    • Front Oncol. 2022 Jan 12;11:798173. doi: 10.3389/fonc.2021.798173.
    • Family History of Breast Cancer and Mammographic Breast Density in Premenopausal Women.
    • Han Y, Moore JX, Colditz GA, Toriola AT.
    • JAMA Netw Open. 2022 Feb 1;5(2):e2148983. doi: 10.1001/jamanetworkopen.2021.48983.

    Research news: Breast Density Linked to Familial Breast Cancer Risk. (Medscape)

    • The DNA methylome of cervical cells can predict the presence of ovarian cancer.
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    Press: Methylation Signatures Within Cervical Cells Capture Ovarian, Breast Cancer Risk. (GenomeWeb)

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    Press: Methylation Signatures Within Cervical Cells Capture Ovarian, Breast Cancer Risk. (GenomeWeb)

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    • Press, Conference report

    Original research:

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

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    • Clin Case Rep. 2021 Sep 22;9(9):e04838. doi: 10.1002/ccr3.4838.
    • Clinical consequences of BRCA2 hypomorphism.
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    • COVID-19 Vaccination Induced Lymphadenopathy in a Specialized Breast Imaging Clinic in Israel: Analysis of 163 cases.
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    • 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.

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    • Review
    • A homozygous nonsense mutation early in exon 5 of BRCA2 is associated with very severe Fanconi anemia.
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    • Characterization of Benign Breast Diseases and Association With Age, Hormonal Factors, and Family History of Breast Cancer Among Women in Sweden.
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    • Enhancing the sensitivity of ovarian cancer cells to olaparib via microRNA-20b-mediated cyclin D1 targeting.
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    • Case report
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    • What’s Autism Got To Do With It?
    • [No author given]
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    Letter:

    Should we or should we not? Risk reduction bilateral salpingectomy for BRCA mutation carriers.

    Letter, Reply:

    Response to: Should we or should we not? Risk reduction bilateral salpingectomy for BRCA mutation carriers.

    • Precursor fractions of neurotensin and enkephalin might point to molecular mechanisms of cancer risk modulation during a lifestyle-intervention in germline BRCA1/2 gene mutation carriers.
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    • Case report
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    • Case report
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    • In Response to "Pregnancy After Breast Cancer in Patients With Germline BRCA Mutations".
    • Narod SA, Giannakeas V.
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    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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    Letter, Commentary:

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

    Letter, Commentary:

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    • Case report
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    • Case report, [Article in Hebrew]
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    • Impact of Taxanes, Endocrine Therapy, and Deleterious Germline BRCA Mutations on Anti-müllerian Hormone Levels in Early Breast Cancer Patients Treated With Anthracycline- and Cyclophosphamide-Based Chemotherapy.
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    • Front Oncol. 2019 Jul 12;9:575. doi: 10.3389/fonc.2019.00575. eCollection 2019.
    • Association between the cervicovaginal microbiome, BRCA1 mutation status, and risk of ovarian cancer: a case-control study.
    • Nené NR, Reisel D, Leimbach A, Franchi D, Jones A, Evans I, Knapp S, Ryan A, Ghazali S, Timms JF, Paprotka T, Bjørge L, Zikan M, Cibula D, Colombo N, Widschwendter M.
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    Commentary:

    Of microbes and women: BRCA1, vaginal microbiota, and ovarian cancer.

    • Night Shift Work, DNA Methylation and Telomere Length: An Investigation on Hospital Female Nurses.
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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.
    • Qian F, Rookus MA, Leslie G, Risch HA, Greene MH, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arnold N, Arun BK, Ausems MGEM, Azzollini J, Barrowdale D, Barwell J, Benitez J, Białkowska K, Bonadona V, Borde J, Borg A, Bradbury AR, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Carter J, Chiquette J, Chung WK, Claes KBM, Collée JM, Collonge-Rame MA, Couch FJ, Daly MB, Delnatte C, Diez O, Domchek SM, Dorfling CM, Eason J, Easton DF, Eeles R, Engel C, Evans DG, Faivre L, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Gehrig A, Glendon G, Godwin AK, Gómez Garcia EB, Hamann U, Hauke J, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jakubowska A, Janavicius R, John EM, Karlan BY, Kets CM, Laitman Y, Lázaro C, Leroux D, Lester J, Lesueur F, Loud JT, Lubiński J, Łukomska A, McGuffog L, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Mouret-Fourme E, Nathanson KL, Nehoray B, Neuhausen SL, Nevanlinna H, Nielsen FC, Offit K, Olah E, Ong KR, Oosterwijk JC, Ottini L, Parsons MT, Peterlongo P, Pfeiler G, Pradhan N, Radice P, Ramus SJ, Rantala J, Rennert G, Robson M, Rodriguez GC, Salani R, Scheuner MT, Schmutzler RK, Shah PD, Side LE, Simard J, Singer CF, Steinemann D, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Terry MB, Thomassen M, Tischkowitz M, Tognazzo S, Toland AE, Tung N, van Asperen CJ, van Engelen K, van Rensburg EJ, Venat-Bouvet L, Vierstraete J, Wagner G, Walker L, Weitzel JN, Yannoukakos D; KConFab Investigators; HEBON Investigators; GEMO Study Collaborators; EMBRACE Collaborators, Antoniou AC, Goldgar DE, Olopade OI, Chenevix-Trench G, Rebbeck TR, Huo D; CIMBA.
    • Br J Cancer. 2019 Jun 19. doi: 10.1038/s41416-019-0492-8. [Epub ahead of print]
    • BRCA2 deficiency is a potential driver for human primary ovarian insufficiency.
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    • Cell Death Dis. 2019 Jun 17;10(7):474. doi: 10.1038/s41419-019-1720-0.
    • Talking Genes in Breast and Pancreatic Malignancies.
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    • Breast Density in a Contemporary Cohort of Women With Ductal Carcinoma In Situ (DCIS).
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    • Curation and bioinformatic analysis of strabismus genes supports functional heterogeneity and proposes candidate genes with connections to RASopathies.
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    • Aspirin Treatment Effect and Association with PIK3CA Mutation in Breast Cancer: A Biomarker Analysis.
    • Zhou Y, Simmons J, Jordan CD, Sonbol MB, Maihle N, Tang SC.
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    • A comprehensive gene-environment interaction analysis in Ovarian Cancer using genome-wide significant common variants.
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    • Int J Cancer. 2019 May 1;144(9):2192-2205. doi: 10.1002/ijc.32029. Epub 2019 Jan 20.
    • BRCA1-No Matter How You Splice It.
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    • Review
    • Effects of Breast Cancer Genes 1 and 2 on Cardiovascular Diseases.
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    • Curr Probl Cardiol. 2019 Apr 12:100421. doi: 10.1016/j.cpcardiol.2019.04.001. [Epub ahead of print]
    • Review
    • Association of BRCA Mutations and Anti-müllerian Hormone Level in Young Breast Cancer Patients.
    • Son KA, Lee DY, Choi D.
    • Front Endocrinol (Lausanne). 2019 Apr 11;10:235. doi: 10.3389/fendo.2019.00235. eCollection 2019.
    • β-hCG induced mutant BRCA1 ignites drug resistance in susceptible breast tissue.
    • Sengodan SK, Hemalatha SK, Nadhan R, Somanathan T, Mathew AP, Chil A, Kopczynski J, Nair RS, Kumar JM, Srinivas P.
    • Carcinogenesis. 2019 Apr 9. pii: bgz070. doi: 10.1093/carcin/bgz070. [Epub ahead of print]
    • Beyond Trophic Factors: Exploiting the Intrinsic Regenerative Properties of Adult Neurons.
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    • Front Cell Neurosci. 2019 Apr 5;13:128. doi: 10.3389/fncel.2019.00128. eCollection 2019.
    • Chronic pancreatitis changes in high-risk individuals for pancreatic ductal adenocarcinoma.
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    • Gastrointest Endosc. 2019 Apr;89(4):842-851.e1. doi: 10.1016/j.gie.2018.08.029. Epub 2018 Aug 24.
    • Risk Haplotypes Uniquely Associated with Radioiodine-Refractory Thyroid Cancer Patients of High African Ancestry.
    • Hurst Z, Liyanarachchi S, He H, Brock P, Sipos J, Nabhan F, Kebebew E, Green P, Cote GJ, Sherman S, Walker CJ, Chang YS, Xue S, Hollingsworth B, Li W, Genutis L, Menq E, de la Chapelle A, Jhiang SM.
    • Thyroid. 2019 Apr;29(4):530-539. doi: 10.1089/thy.2018.0687. Epub 2019 Feb 13.
    • 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.
    • BRCA2 in Ovarian Development and Function.
    • Qin Y, Zhang F, Chen ZJ.
    • N Engl J Med. 2019 Mar 14;380(11):1086. doi: 10.1056/NEJMc1813800.
    • Letter, Case report, Comment

    Original research:

    Essential Role of BRCA2 in Ovarian Development and Function.

    Letter, Comment:

    BRCA2 in Ovarian Development and Function.

    Letter, Reply:

    BRCA2 in Ovarian Development and Function. Reply.

    • DHA Oral Supplementation Modulates Serum Epoxydocosapentaenoic Acid (EDP) Levels in Breast Cancer Patients.
    • Molfino A, Amabile MI, Lionetto L, Spagnoli A, Ramaccini C, De Luca A, Simmaco M, Monti M, Muscaritoli M.
    • Oxid Med Cell Longev. 2019 Mar 5;2019:1280987. doi: 10.1155/2019/1280987. eCollection 2019.
    • Association between hereditary predisposition to common cancers and congenital multimalformations.
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    • The role of menopausal hormone therapy in women with or at risk of ovarian and breast cancers: Misconceptions and current directions.
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    • Cancer. 2019 Feb 15;125(4):499-514. doi: 10.1002/cncr.31911. Epub 2018 Dec 20.
    • Review
    • BRCA1/2 gene mutations do not affect the capacity of oocytes from breast cancer candidates for fertility preservation to mature in vitro.
    • Grynberg M, Dagher Hayeck B, Papanikolaou EG, Sifer C, Sermondade N, Sonigo C.
    • Hum Reprod. 2019 Feb 1;34(2):374-379. doi: 10.1093/humrep/dey358.
    • Association of Prepubertal and Adolescent Androgen Concentrations With Timing of Breast Development and Family History of Breast Cancer.
    • Houghton LC, Knight JA, Wei Y, Romeo RD, Goldberg M, Andrulis IL, Bradbury AR, Buys SS, Daly MB, John EM, Chung WK, Santella RM, Stanczyk FZ, Terry MB.
    • JAMA Netw Open. 2019 Feb 1;2(2):e190083. doi: 10.1001/jamanetworkopen.2019.0083.
    • A case of gastric cancer metastasis to the breast in a female with BRCA2 germline mutation and literature review.
    • Dulskas A, Al Bandar M, Choi YY, Shin SJ, Beom SH, Son T, Kim HI, Cheong JH, Hyung WJ, Noh SH.
    • Acta Chir Belg. 2019 Feb;119(1):59-63. doi: 10.1080/00015458.2017.1411554. Epub 2017 Dec 5.
    • Case report
    • Induced in vivo knockdown of the Brca1 gene in skeletal muscle results in skeletal muscle weakness.
    • Tarpey MD, Valencia AP, Jackson KC, Amorese AJ, Balestrieri NP, Renegar RH, Pratt SJP, Ryan TE, McClung JM1,, Lovering RM, Spangenburg EE.
    • J Physiol. 2019 Feb;597(3):869-887. doi: 10.1113/JP276863. Epub 2018 Dec 16.
    • Genetic variation and radiation quality impact cancer promoting cellular phenotypes in response to HZE exposure.
    • Sridharan DM, Enerio S, Wang C, LaBarge MA, Stampfer MR, Pluth JM.
    • Life Sci Space Res (Amst). 2019 Feb;20:101-112. doi: 10.1016/j.lssr.2018.10.002. Epub 2018 Oct 21.
    • Coexistence of tooth agenesis and ovarian cancer - a systematic literature review.
    • Gawron-Jakubek W, Spaczynska J, Pitynski K, Loster BW.
    • Ginekol Pol. 2019;90(12):707-710. doi: 10.5603/GP.2019.0121.
    • G2 Chromosomal Radiosensitivity Assay for Testing Individual Radiation Sensitivity.
    • Haskins JS, Kato TA.
    • Methods Mol Biol. 2019;1984:39-45. doi: 10.1007/978-1-4939-9432-8_5.
    • Book, Review
    • Loss of BRCA1 Spontaneously Induces the Tumorigenesis in Lacrimal Gland.
    • Kim SE, Baek HJ, Park EJ, Lim SC, Kim SS.
    • Anal Cell Pathol (Amst). 2018 Dec 17;2018:8120579. doi: 10.1155/2018/8120579. eCollection 2018.
    • Differences in the Neanderthal BRCA2 gene might be related to their distinctive cognitive profile.
    • Benítez-Burraco A.
    • Hereditas. 2018 Dec 13;155:38. doi: 10.1186/s41065-018-0076-2. eCollection 2018.

    Original Research:

    Unique divergence of the breast cancer 2 (BRCA2) gene in Neanderthals.

    • 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.
    • BRCA1/BRCA2 Mutations Shaped by Ancient Consanguinity Practice in Southern Mediterranean Populations
    • Belaiba F, Medimegh I, Bidet Y, Boussetta S, Baroudi O, Mezlini A, Bignon YJ, Benammar El gaaied A.
    • Asian Pac J Cancer Prev. 2018 Oct 26;19(10):2963-2972.
    • BRCA1 deficiency and synthetic lethality in leukemias; not only gene mutation matters.
    • Piwocka K, Podszywałow-Bartnicka P, Skorski T.
    • Postepy Biochem. 2018 Oct 15;64(2):141-147.
    • Essential Role of BRCA2 in Ovarian Development and Function.
    • Weinberg-Shukron A, Rachmiel M, Renbaum P, Gulsuner S, Walsh T, Lobel O, Dreifuss A, Ben-Moshe A, Zeligson S, Segel R, Shore T, Kalifa R, Goldberg M, King MC, Gerlitz O, Levy-Lahad E, Zangen D.
    • N Engl J Med. 2018 Sep 13;379(11):1042-1049. doi: 10.1056/NEJMoa1800024.
    • Case report

    Letter, Comment, Case report:

    BRCA2 in Ovarian Development and Function.

    Letter, Comment:

    BRCA2 in Ovarian Development and Function.

    Letter, Reply:

    BRCA2 in Ovarian Development and Function. Reply.

    • 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.
    • Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin.
    • Rafnar T, Sigurjonsdottir GR, Stacey SN, Halldorsson G, Sulem P, Pardo LM, Helgason H, Sigurdsson ST, Gudjonsson T, Tryggvadottir L, Olafsdottir GH, Jonasson JG, Alexiusdottir K, Sigurdsson A, Gudmundsson J, Saemundsdottir J, Sigurdsson JK, Johannsdottir H, Uitterlinden A, Vermeulen SH, Galesloot TE, Allain DC, Lacko M, Sigurgeirsson B, Thorisdottir K, Johannsson OT, Sigurdsson F, Ragnarsson GB, Isaksson H, Hardardottir H, Gudbjartsson T, Gudbjartsson DF, Masson G, Kiemeney LAML, Ewart Toland A, Nijsten T, Peters WHM, Olafsson JH, Jonsson S, Thorsteinsdottir U, Thorleifsson G, Stefansson K.
    • J Natl Cancer Inst. 2018 Sep 1;110(9):967-974. doi: 10.1093/jnci/djy002.

    Research News:

    Mixing Mutation Location With Carcinogen Exposure: A Recipe for Tissue Specificity in BRCA2-Associated Cancers?

    • 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.
    • Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia.
    • Kasak L, Punab M, Nagirnaja L, Grigorova M, Minajeva A, Lopes AM, Punab AM, Aston KI, Carvalho F, Laasik E, Smith LB; GEMINI Consortium, Conrad DF, Laan M.
    • Am J Hum Genet. 2018 Aug 2;103(2):200-212. doi: 10.1016/j.ajhg.2018.07.005.
    • Case report
    • 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.
    • Effect of exercise on metabolic syndrome in black women by family history and predicted risk of breast cancer: The FIERCE Study.
    • Dash C, Taylor TR, Makambi KH, Hicks J, Hagberg JM, Adams-Campbell LL.
    • Cancer. 2018 Aug;124(16):3355-3363. doi: 10.1002/cncr.31569. Epub 2018 Jul 5.
    • New developments in the genetic diagnosis of short stature.
    • Jee YH, Baron J, Nilsson O.
    • Curr Opin Pediatr. 2018 Aug;30(4):541-547. doi: 10.1097/MOP.0000000000000653.
    • Review
    • Influence of tumour suppressor gene (TP53, BRCA1 and BRCA2) polymorphisms on polycystic ovary syndrome in South Indian women.
    • Siddamalla S, Reddy TV, Govatati S, Guruvaiah P, Deenadayal M, Shivaji S, Bhanoori M.
    • Eur J Obstet Gynecol Reprod Biol. 2018 Aug;227:13-18. doi: 10.1016/j.ejogrb.2018.05.027. Epub 2018 May 24.
    • 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.
    • BRCA1 and BRCA2 gene variants and nonsyndromic cleft lip/palate.
    • Rodriguez N, Maili L, Chiquet BT, Blanton SH, Hecht JT, Letra A.
    • Birth Defects Res. 2018 Jul 17;110(12):1043-1048. doi: 10.1002/bdr2.1346. Epub 2018 Jun 19.
    • A systematic review on the frequency of BRCA promoter methylation in breast and ovarian carcinomas of BRCA germline mutation carriers: Mutually exclusive, or not?
    • Vos S, van Diest PJ, Moelans CB.
    • Crit Rev Oncol Hematol. 2018 Jul;127:29-41. doi: 10.1016/j.critrevonc.2018.05.008. Epub 2018 May 14.
    • Impact of BRCA mutations on outcomes among patients with serous endometrial cancer.
    • Kadan Y, Raviv O, Segev Y, Lavie O, Bruchim I, Fishman A, Michaelson R, Beller U, Helpman L.
    • Int J Gynaecol Obstet. 2018 Jul;142(1):91-96. doi: 10.1002/ijgo.12486. Epub 2018 Apr 2.
    • Immunogenomic Analyses of Advanced Serous Ovarian Cancer Reveal Immune Score is a Strong Prognostic Factor and an Indicator of Chemosensitivity.
    • Hao D, Liu J, Chen M, Li J, Wang L, Li X, Zhao Q, Di L
    • Clin Cancer Res. 2018 Jun 12. doi: 10.1158/1078-0432.CCR-17-3862. [Epub ahead of print]
    • Orbital Metastases from Breast Cancer with BRCA2 Mutation: A Case Report and Literature Review.
    • Barber E, Lyou Y, Mehta R, Lin E, Lane K, Parajuli R.
    • Case Rep Oncol. 2018 Jun 7;11(2):360-364. doi: 10.1159/000489698. eCollection 2018 May-Aug.
    • Increased centrosome number in BRCA-related breast cancer specimens determined by immunofluorescence analysis.
    • Watanabe G, Chiba N, Nomizu T, Furuta A, Sato K, Miyashita M, Tada H, Suzuki A, Ohuchi N, Ishida T.
    • Cancer Sci. 2018 Jun;109(6):2027-2035. doi: 10.1111/cas.13595. Epub 2018 May 15.
    • Leucocytes telomere length and breast cancer risk/ susceptibility: A case-control study.
    • Pavanello S, Varesco L, Gismondi V, Bruzzi P, Bolognesi C.
    • PLoS One. 2018 May 21;13(5):e0197522. doi: 10.1371/journal.pone.0197522. eCollection 2018.
    • Role of BRCA1 in Neuronal Death in Alzheimer's Disease.
    • Wezyk M, Zekanowski C.
    • ACS Chem Neurosci. 2018 May 16;9(5):870-872. doi: 10.1021/acschemneuro.8b00149. Epub 2018 Apr 10.
    • Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.
    • Seo A, Steinberg-Shemer O, Unal S, Casadei S, Walsh T, Gumruk F, Shalev S, Shimamura A, Akarsu NA, Tamary H3, King MC.
    • Proc Natl Acad Sci U S A. 2018 May 15;115(20):5241-5246. doi: 10.1073/pnas.1801796115. Epub 2018 Apr 30.
    • Mammographic density changes in surgical weight loss-an indication for personalized screening.
    • Partain N, Mokdad A, Puzziferri N, Porembka J, Seiler S, Christie A, Farr D, Rivers A, Marilyn Leitch A, Wooldridge R, Huth J, Rao R.
    • BMC Med Imaging. 2018 May 9;18(1):10. doi: 10.1186/s12880-017-0242-4.
    • Metabolomic profiles in breast cancer:a pilot case-control study in the breast cancer family registry.
    • Dougan MM, Li Y, Chu LW, Haile RW, Whittemore AS, Han SS, Moore SC, Sampson JN, Andrulis IL, John EM, Hsing AW.
    • BMC Cancer. 2018 May 5;18(1):532. doi: 10.1186/s12885-018-4437-z.
    • BRCA1 and BRCA2 tumor suppressors in neural crest cells are essential for craniofacial bone development.
    • Kitami K, Kitami M, Kaku M, Wang B, Komatsu Y.
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    • Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
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    • Review
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    • Case report, Review
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    • Conference abstract
    • A16 Arsenic as a marker of cancer risk.
    • Derkacz R, Marciniak W, Baszuk P, Kuświk M, Kaczmarek K, Muszyńska M, Lener M, Huzarski T, Gronwald J, Oszurek O, Tołoczko-Grabarek A, Cybulski C, Dębniak T, Morawski A, Jakubowska A, Lubiński J.
    • Hered Cancer Clin Pract. 2018 Feb 28;16(Suppl 1):A16. Meeting abstracts from Clinical Genetics of Cancer 2017; Szczecin, Poland. 21-22 September 2017. doi: 10.1186/s13053-018-0087-z.
    • Conference abstract
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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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    • Reproductive potential and performance of fertility preservation strategies in BRCA-mutated breast cancer patients.
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    • Ann Oncol. 2018 Jan 1;29(1):237-243. doi: 10.1093/annonc/mdx639.

    Introductory article:

    BRCA 1 and 2 mutation status: the elephant in the room during oncofertility counseling for young breast cancer patients.

    Introductory article: BRCA 1 and 2 Mutation Status: The Elephant in the Room During Oncofertility Counseling for Young Breast Cancer Patients. (Medscape, Free full text)

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    • Review
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    • Paraneoplastic fasciitis and polyarthritis syndrome as a manifestation of breast cancer recurrence in a BRCA1 gene-positive patient.
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    • Letter
    • BRCA1 mutation carriers have a lower number of mature oocytes after ovarian stimulation for IVF/PGD.
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    • Association between single nucleotide polymorphism rs9534275 and the risk of coronary artery disease and ischemic stroke.
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    • Lipids Health Dis. 2017 Oct 5;16(1):193. doi: 10.1186/s12944-017-0584-5.
    • Lower Urinary Tract Symptoms and Benign Prostate Hyperplasia Features Among Male BRCA Mutation Carriers.
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    • Tumor characteristics and family history in relation to mammographic density and breast cancer: The French E3N cohort.
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    • Telomere Length Is Predictive of Breast Cancer Risk in BRCA2 Mutation Carriers.
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    • Hormone receptor status of a first primary breast cancer predicts contralateral breast cancer risk in the WECARE study population.
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    • Identification of differentially methylated BRCA1 and CRISP2 DNA regions as blood surrogate markers for cardiovascular disease.
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    • Immune Gene Expression Is Associated with Genomic Aberrations in Breast Cancer.
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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.

    • Truncating Titin (TTN) Variants in Chemotherapy-Induced Cardiomyopathy.
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    • Case report
    • Chronic Pancreatitis-Like Change in BRCA2 Mutation Carriers.
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    • Pancreas. 2017 May/Jun;46(5):679-683. doi: 10.1097/MPA.0000000000000814.
    • Antimüllerian hormone levels are lower in BRCA2 mutation carriers.
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    • A brother and sister with breast cancer, BRCA2 mutations and bilateral supernumerary nipples.
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    • Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay.
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    • Utilizing fluorescent life time imaging microscopy technology for identify carriers of BRCA2 mutation.
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    • Letter
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    • Case report
    • Analysis of alternative lengthening of telomere markers in BRCA1 defective cells.
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    • Serum AMH levels in healthy women from BRCA1/2 mutated families: are they reduced?
    • van Tilborg TC, Derks-Smeets IA, Bos AM, Oosterwijk JC, van Golde RJ, de Die-Smulders CE, van der Kolk LE, van Zelst-Stams WA, Velthuizen ME, Hoek A, Eijkemans MJ, Laven JS, Ausems MG, Broekmans FJ.
    • Hum Reprod. 2016 Nov;31(11):2651-2659. Epub 2016 Oct 5.
    • Plasma folate, vitamin B-6, and vitamin B-12 and breast cancer risk in BRCA1- and BRCA2-mutation carriers: a prospective study.
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    • Cardiovascular risk of BRCA1/2 mutation carriers: A review.
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    • Review
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    • Reduced BRCA1 transcript levels in freshly isolated blood leukocytes from BRCA1 mutation carriers is mutation specific.
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    • Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers.
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    • Cancer Epidemiol Biomarkers Prev. 2016 Aug;25(8):1251-8. doi: 10.1158/1055-9965.EPI-16-0182. Epub 2016 Jun 8.
    • Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
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    • J Med Genet. 2016 Aug;53(8):548-558. doi: 10.1136/jmedgenet-2015-103570. Epub 2016 Apr 8.

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

    • Do BRCA1/2 mutation carriers have an earlier onset of natural menopause?
    • van Tilborg TC, Broekmans FJ, Pijpe A, Schrijver LH, Mooij TM, Oosterwijk JC, Verhoef S, Gómez Garcia EB, van Zelst-Stams WA, Adank MA, van Asperen CJ, van Doorn HC, van Os TA, Bos AM, Rookus MA, Ausems MG.
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    • [Article in Chinese]
    • Thyroid Hormones and Vitamin D in Patients with Breast Cancer with Mutations in BRCA1 or BRCA2 Genes.
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    • Case report

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Cancer risks for transgender patient

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    • Diagnostic and therapeutic ionizing radiation and the risk of a first and second primary breast cancer, with special attention for BRCA1 and BRCA2 mutation carriers: A critical review of the literature.
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    • Review
    • BRCA1 alterations are associated with endometriosis, but BRCA2 alterations show no detectable endometriosis risk: a study in Indian population.
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    • Review, [Article in French]
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    • Hereditary Cancer in Clinical Practice 2015, 13(Suppl 2):A11; Meeting abstracts from the Annual Conference on Hereditary Cancers 2014. doi:10.1186/1897-4287-13-S2-A11
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    Editorial:

    Breast cancer in Wilms tumor survivors: New insights into primary and secondary prevention.

    Letter, Comment:

    Wilms tumor and breast cancer.

    Letter, Reply:

    Wilms tumor and breast cancer.

    • Circulating estrogens and estrogens within the breast among postmenopausal BRCA1/2 mutation carriers.
    • Loud JT.
    • Breast Cancer Res Treat. 2014 Dec;148(3):691-2. doi: 10.1007/s10549-014-3186-1.
    • Letter, Comment

    Circulating estrogens and estrogens within the breast among postmenopausal BRCA1/2 mutation carriers.

    Letter, Comment:

    Concerns about methods for determination of estrogens in body fluids.

    • FMR1 CGG allele length in Israeli BRCA1/BRCA2 mutation carriers and the general population display distinct distribution patterns.
    • Laitman Y, Ries-Levavi L, Berkensdadt M, Korach J, Perri T, Pras E, Friedman E.
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    • Retraction: Relation between HPV genotypes and BRCA mutation in familial breast cancer.
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    • Lymphocyte Telomere Length Is Long in BRCA1 and BRCA2 Mutation Carriers Regardless of Cancer-Affected Status.
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    • Cancer Epidemiol Biomarkers Prev. 2014 Jun;23(6):1018-24. doi: 10.1158/1055-9965.EPI-13-0635-T. Epub 2014 Mar 18.
    • Association of BRCA2 variants with cardiovascular disease in Saudi Arabia.
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    • Age-Related Decline in DNA Repair Function Explains Diminished Ovarian Reserve, Earlier Menopause, and Possible Oocyte Vulnerability to Chemotherapy in Women With BRCA Mutations.
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    • J Clin Oncol. 2014 Apr 1;32(10):1093-4. doi: 10.1200/JCO.2013.53.5369. Epub 2014 Feb 18.

    Chemotherapy-Induced Amenorrhea in Patients With Breast Cancer With a BRCA1 or BRCA2 Mutation.

    • Is there a link between ovarian cancer and tooth agenesis?
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    • Surgically treated ovarian endometriosis association with BRCA1 and BRCA2 mutations.
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    • Case report
    • Preliminary monocentric results of biological characteristics of pregnancy associated breast cancer.
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    • Genomic analysis of primordial dwarfism reveals novel disease genes.
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    • Establishing the origin of metastatic deposits in the setting of multiple primary malignancies: the role of massively parallel sequencing.
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    • Telomere Length Shows No Association with BRCA1 and BRCA2 Mutation Status.
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    • A Two-Stage Association Study Suggests BRAP as a Susceptibility Gene for Schizophrenia.
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    • Acute skin toxicity in Korean breast cancer patients carrying BRCA mutations.
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    • MicroRNA-based molecular classification of non-BRCA1/2 hereditary breast tumours.
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    • Women with familial risk for breast cancer have an increased frequency of aldehyde dehydrogenase expressing cells in breast ductules.
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    • BMC Clin Pathol. 2013 Nov 4;13(1):28. doi: 10.1186/1472-6890-13-28.
    • Chemotherapy-induced amenorrhea in patients with breast cancer with a BRCA1 or BRCA2 mutation.
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    Letter, Comment:

    Age-related decline in DNA repair function explains diminished ovarian reserve, earlier menopause, and possible oocyte vulnerability to chemotherapy in women with BRCA mutations.

    • Do BRCA1 and BRCA2 Mutation Carriers Have Earlier Natural Menopause Than Their Noncarrier Relatives? Results From the Kathleen Cuningham Foundation Consortium for Research Into Familial Breast Cancer.
    • Collins IM, Milne RL, McLachlan SA, Friedlander M, Hickey M, Weideman PC, Birch KE, Hopper JL, Phillips KA.
    • J Clin Oncol. 2013 Nov 1;31(31):3920-5. doi: 10.1200/JCO.2013.49.3007. Epub 2013 Sep 30.
    • The impact of pregnancy on breast cancer survival in women who carry a BRCA1 or BRCA2 mutation.
    • Valentini A, Lubinski J, Byrski T, Ghadirian P, Moller P, Lynch HT, Ainsworth P, Neuhausen SL, Weitzel J, Singer CF, Olopade OI, Saal H, Lyonnet DS, Foulkes WD, Kim-Sing C, Manoukian S, Zakalik D, Armel S, Senter L, Eng C, Grunfeld E, Chiarelli AM, Poll A, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group.
    • Breast Cancer Res Treat. 2013 Nov;142(1):177-85. doi: 10.1007/s10549-013-2729-1. Epub 2013 Oct 18.
    • Increased Proliferative Background in Healthy Women with BRCA1/2 Haploinsufficiency Is Associated with High Risk for Breast Cancer.
    • Nisman B, Kadouri L, Allweis T, Maly B, Hamburger T, Gronowitz S, Peretz T.
    • Cancer Epidemiol Biomarkers Prev. 2013 Nov;22(11):2110-5. doi: 10.1158/1055-9965.EPI-13-0193. Epub 2013 Aug 21.
    • The sex hormone system in carriers of BRCA1/2 mutations: a case-control study.
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    • Lancet Oncol. 2013 Nov;14(12):1226-32. doi: 10.1016/S1470-2045(13)70448-0. Epub 2013 Oct 17.

    Letter, Comment:

    Untangling BRCA mutations, sex hormones, and cancer risk.

    Press: Female hormones key to breast and ovarian cancer in BRCA gene carriers. (Medical Xpress)

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    • Br J Cancer. 2013 Oct 29;109(9):2331-9. doi: 10.1038/bjc.2013.587. Epub 2013 Oct 1.
    • Co-occurrence of multiple sclerosis and cancer in a BRCA1 positive family.
    • Holzmann C, Bauer I, Meyer P.
    • Eur J Med Genet. 2013 Oct;56(10):577-9. doi: 10.1016/j.ejmg.2013.07.006. Epub 2013 Aug 14.
    • Case report
    • BRCA1 is a novel target to improve endothelial dysfunction and retard atherosclerosis.
    • Singh KK, Shukla PC, Quan A, Al-Omran M, Lovren F, Pan Y, Brezden-Masley C, Ingram AJ, Stanford WL, Teoh H, Verma S.
    • J Thorac Cardiovasc Surg. 2013 Oct;146(4):949-960.e4. doi: 10.1016/j.jtcvs.2012.12.064. Epub 2013 Feb 14.
    • Pyrimidine base damage is increased in women with BRCA mutations.
    • Budzinski EE, Patrzyc HB, Dawidzik JB, Freund HG, Frederick P, Godoy HE, Voian NC, Odunsi K, Box HC.
    • Cancer Lett. 2013 Sep 28;338(2):267-70. doi: 10.1016/j.canlet.2013.04.001. Epub 2013 Apr 11.
    • Diagnostic chest X-rays and breast cancer risk before age 50 years for BRCA1 and BRCA2 mutation carriers.
    • John EM1, McGuire V, Thomas D, Haile R, Ozcelik H, Milne RL, Felberg A, West DW, Miron A, Knight JA, Terry MB, Daly M, Buys SS, Andrulis IL, Hopper JL, Southey MC, Giles GG, Apicella C, Thorne H; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), Whittemore AS.
    • Cancer Epidemiol Biomarkers Prev. 2013 Sep;22(9):1547-56. doi: 10.1158/1055-9965.EPI-13-0189. Epub 2013 Jul 12.
    • Deleterious BRCA1/2 mutation is an independent risk factor for carboplatin hypersensitivity reactions.
    • Moon DH, Lee JM, Noonan AM, Annunziata CM, Minasian L, Houston N, Hays JL, Kohn EC.
    • Br J Cancer. 2013 Aug 20;109(4):1072-8. doi: 10.1038/bjc.2013.389. Epub 2013 Jul 18.
    • Parkinson's disease genes do not segregate with breast cancer genes' Loci.
    • Kravitz E, Laitman Y, Hassin-Baer S, Inzelberg R, Friedman E.
    • Cancer Epidemiol Biomarkers Prev. 2013 Aug;22(8):1464-72. doi: 10.1158/1055-9965.EPI-13-0472. Epub 2013 Jun 13.
    • Exposure to diagnostic levels of radiation prior to age 30 increases the risk of breast cancer in BRCA1/2 carriers.
    • Haffty BG, Lee C.
    • Evid Based Med. 2013 Aug;18(4):e40. doi: 10.1136/eb-2012-101075. Epub 2012 Dec 5.
    • Comment

    Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK).

    • FMR1 low sub-genotype does not rescue BRCA1/2-mutated human embryos and does not explain primary ovarian insufficiency among BRCA1/2-carriers.
    • Brandão RD, van Roozendaal K, Tserpelis D, Blok MJ.
    • Hum Reprod. 2013 Aug;28(8):2308-11. doi: 10.1093/humrep/det254. Epub 2013 Jun 11.
    • 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.
    • Genetic predisposition to radiation induced sarcoma: possible role for BRCA and p53 mutations.
    • Kadouri L, Sagi M, Goldberg Y, Lerer I, Hamburger T, Peretz T.
    • Breast Cancer Res Treat. 2013 Jul;140(1):207-11. doi: 10.1007/s10549-013-2621-z. Epub 2013 Jul 4.
    • Case report
    • Parental origin of mutation and the risk of breast cancer in a prospective study of women with a BRCA1 or BRCA2 mutation.
    • Senst N, Llacuachaqui M, Lubinski J, Lynch H, Armel S, Neuhausen S, Ghadirian P, Sun P, Narod S; Hereditary Breast Cancer Study Group.
    • Clin Genet. 2013 Jul;84(1):43-6. doi: 10.1111/cge.12037. Epub 2012 Nov 7.
    • BRCA1 and BRCA2 mutations and female fertility.
    • Smith KR, Hanson HA, Hollingshaus MS.
    • Curr Opin Obstet Gynecol. 2013 Jun;25(3):207-13. doi: 10.1097/GCO.0b013e32835f1731.
    • Association of BRCA1/2 mutations with FMR1 genotypes: Effects on menarcheal and menopausal age.
    • Tea MK, Weghofer A, Wagner K, Singer CF.
    • Maturitas. 2013 Jun;75(2):148-51. doi: 10.1016/j.maturitas.2013.03.002. Epub 2013 Mar 23.
    • Mammographic density and breast cancer: a comparison of related and unrelated controls in the Breast Cancer Family Registry.
    • Linton L, Martin LJ, Li Q, Huszti E, Minkin S, John EM, Rommens J, Paterson AD, Boyd NF.
    • Breast Cancer Res. 2013 May 25;15(3):R43. doi: 10.1186/bcr3430.
    • High mammographic density in women of Ashkenazi Jewish descent.
    • Caswell JL, Kerlikowske K, Shepherd JA, Cummings SR, Hu D, Huntsman S, Ziv E.
    • Breast Cancer Res. 2013 May 13;15(3):R40. doi: 10.1186/bcr3424.
    • Comparison of age at natural menopause in BRCA1/2 mutation carriers with a non-clinic-based sample of women in northern California.
    • Lin WT, Beattie M, Chen LM, Oktay K, Crawford SL, Gold EB, Cedars M, Rosen M.
    • Cancer. 2013 May 1;119(9):1652-9. doi: 10.1002/cncr.27952. Epub 2013 Jan 29.

    Press: Early Menopause May Occur in Women With BRCA Gene. (ScienceDaily)

    Press: Cancer gene mutation linked to earlier menopause. (Reuters/Living Beyond Breast Cancer)

    • Frequency of premature menopause in women who carry a BRCA1 or BRCA2 mutation.
    • Finch A, Valentini A, Greenblatt E, Lynch HT, Ghadirian P, Armel S, Neuhausen SL, Kim-Sing C, Tung N, Karlan B, Foulkes WD, Sun P, Narod S; Hereditary Breast Cancer Study Group.
    • Fertil Steril. 2013 May;99(6):1724-8. doi: 10.1016/j.fertnstert.2013.01.109. Epub 2013 Feb 13.

    Comment:

    BRCA mutations and fertility: do not push the envelope!

    • Baseline E(2) levels are higher in BRCA2 mutation carriers: a potential target for prevention?
    • Kim J, Oktay K.
    • Cancer Causes Control. 2013 Mar;24(3):421-6. doi: 10.1007/s10552-012-0127-3. Epub 2012 Dec 28.
    • X chromosome inactivation pattern in BRCA gene mutation carriers.
    • Manoukian S, Verderio P, Tabano S, Colapietro P, Pizzamiglio S, Grati FR, Calvello M, Peissel B, Burn J, Pensotti V, Allemani C, Sirchia SM, Radice P, Miozzo M.
    • Eur J Cancer. 2013 Mar;49(5):1136-41. doi: 10.1016/j.ejca.2012.10.013. Epub 2012 Nov 9.
    • Impairment of BRCA1-Related DNA Double-Strand Break Repair Leads to Ovarian Aging in Mice and Humans.
    • Titus S, Li F, Stobezki R, Akula K, Unsal E, Jeong K, Dickler M, Robson M, Moy F, Goswami S, Oktay K.
    • Sci Transl Med. 2013 Feb 13;5(172):172ra21. doi: 10.1126/scitranslmed.3004925.

    Comment:

    Ovarian aging: breaking up is hard to fix.

    • BRCA1 deficiency in skin epidermis leads to selective loss of hair follicle stem cells and their progeny.
    • Sotiropoulou PA, Karambelas AE, Debaugnies M, Candi A, Bouwman P, Moers V, Revenco T, Rocha AS, Sekiguchi K, Jonkers J, Blanpain C.
    • Genes Dev. 2013 Jan 1;27(1):39-51. doi: 10.1101/gad.206573.112. Epub 2012 Dec 27.
    • Increased incidence of brain metastases in BRCA1-related ovarian cancers.
    • Sekine M, Yoshihara K, Komata D, Haino K, Nishino K, Tanaka K.
    • J Obstet Gynaecol Res. 2013 Jan;39(1):292-6. doi: 10.1111/j.1447-0756.2012.01961.x. Epub 2012 Aug 13.
    • A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
    • Chung S, Low SK, Zembutsu H, Takahashi A, Kubo M, Sasa M, Nakamura Y.
    • Breast Cancer Res. 2013;15(5):R81.
    • Association of CYP2D6 metabolizer status with mammographic density change in response to tamoxifen treatment.
    • Li J, Czene K, Brauch H, Schroth W, Saladores P, Li Y, Humphreys K, Hall P.
    • Breast Cancer Res. 2013;15(5):R93.
    • The heritability of mammographic breast density and circulating sex-hormone levels: two independent breast cancer risk factors.
    • Varghese JS, Smith PL, Folkerd E, Brown J, Leyland J, Audley T, Warren RM, Dowsett M, Easton DF, Thompson DJ.
    • Cancer Epidemiol Biomarkers Prev. 2012 Dec;21(12):2167-75. doi: 10.1158/1055-9965.EPI-12-0789. Epub 2012 Oct 16.
    • Biopsychological stress factors in BRCA mutationcarriers.
    • Wenzel L, Osann K, Lester J, Kurz R, Hsieh S, Nelson EL, Karlan B.
    • Psychosomatics. 2012 Nov-Dec;53(6):582-90. doi: 10.1016/j.psym.2012.06.007.
    • Chromosomal instability induced by mammography X-rays in primary human fibroblasts from BRCA1 and BRCA2 mutation carriers.
    • Frankenberg-Schwager M, Gregus A.
    • Int J Radiat Biol. 2012 Nov;88(11):846-57. doi: 10.3109/09553002.2012.711500. Epub 2012 Oct 1.
    • Breast cancer: Radiation risk in BRCA carriers.
    • Hutchinson L.
    • Nat Rev Clin Oncol. 2012 Nov;9(11):611. doi: 10.1038/nrclinonc.2012.175. Epub 2012 Sep 25.
    • Comment

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Article Request

    Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK).

    • BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the "BRCA paradox"?
    • Weghofer A, Tea MK, Barad DH, Kim A, Singer CF, Wagner K, Gleicher N.
    • PLoS One. 2012;7(9):e44753. doi: 10.1371/journal.pone.0044753. Epub 2012 Sep 12.
    • Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK).
    • Pijpe A, Andrieu N, Easton DF, Kesminiene A, Cardis E, Noguès C, Gauthier-Villars M, Lasset C, Fricker JP, Peock S, Frost D, Evans DG, Eeles RA, Paterson J, Manders P, van Asperen CJ, Ausems MG, Meijers-Heijboer H, Thierry-Chef I, Hauptmann M, Goldgar D, Rookus MA, van Leeuwen FE; GENEPSO; EMBRACE; HEBON.
    • BMJ. 2012 Sep 6;345:e5660. doi: 10.1136/bmj.e5660.

    Comment:

    Exposure to diagnostic levels of radiation prior to age 30 increases the risk of breast cancer in BRCA1/2 carriers.

    Comment:

    Breast cancer: Radiation risk in BRCA carriers.

    Research News:

    X-rays increase breast cancer risk in women with gene mutation.

    Press: X-Rays May Up Breast Cancer Risk for Women With Certain Genes: Study (HealthDay)

    • Methylation profiles of the BRCA1 promoter in hereditary and sporadic breast cancer among Han Chinese.
    • Pang D, Zhao Y, Xue W, Shan M, Chen Y, Zhang Y, Zhang G, Liu F, Li D, Yang Y.
    • Med Oncol. 2012 Sep;29(3):1561-8. doi: 10.1007/s12032-011-0100-0. Epub 2011 Nov 11.
    • BRCA2 variants and cardiovascular disease in a multi-ethnic study.
    • Zbuk K, Xie C, Young R, Heydarpour M, Pare G, Davis AD, Miller R, Lanktree MB, Saleheen D, Danesh J, Yusuf S, Engert JC, Hegele RA, Anand SS.
    • BMC Med Genet. 2012 Jul 18;13:56. doi: 10.1186/1471-2350-13-56.
    • Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasms.
    • Schulz E, Valentin A, Ulz P, Beham-Schmid C, Lind K, Rupp V, Lackner H, Wölfler A, Zebisch A, Olipitz W, Geigl J, Berghold A, Speicher MR, Sill H.
    • J Med Genet. 2012 Jul;49(7):422-8. doi: 10.1136/jmedgenet-2011-100674. Epub 2012 May 31.
    • Anthropometric measures and risk of ovarian cancer among BRCA1 and BRCA2 mutation carriers.
    • McGee J, Kotsopoulos J, Lubinski J, Lynch HT, Rosen B, Tung N, Kim-Sing C, Karlan B, Foulkes WD, Ainsworth P, Ghadirian P, Senter L, Eisen A, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group.
    • Obesity (Silver Spring). 2012 Jun;20(6):1288-92. doi: 10.1038/oby.2011.394. Epub 2012 Jan 19.
    • Changes in the expression of plasma proteins associated with thrombosis in BRCA1 mutation carriers.
    • Custodio A, López-Farré AJ, Zamorano-León JJ, Mateos-Cáceres PJ, Macaya C, Caldés T, de la Hoya M, Olivera E, Puente J, Díaz-Rubio E, Pérez-Segura P.
    • J Cancer Res Clin Oncol. 2012 May;138(5):867-75. doi: 10.1007/s00432-012-1161-y. Epub 2012 Feb 7.
    • Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment.
    • Finegold DN, Baty CJ, Knickelbein KZ, Perschke S, Noon SE, Campbell D, Karlsson JM, Huang D, Kimak MA, Lawrence EC, Feingold E, Meriney SD, Brufsky AM, Ferrell RE.
    • Clin Cancer Res. 2012 Apr 15;18(8):2382-90. doi: 10.1158/1078-0432.CCR-11-2303. Epub 2012 Feb 20.
    • Effects of BRCA1 and BRCA2 mutations on female fertility.
    • Smith KR, Hanson HA, Mineau GP, Buys SS.
    • Proc Biol Sci. 2012 Apr 7;279(1732):1389-95. doi: 10.1098/rspb.2011.1697. Epub 2011 Oct 12.

    Comment:

    BRCA1/2 mutations, fertility and the grandmother effect.

    • Gamma-ray-induced mutagen sensitivity and risk of sporadic breast cancer in young women: a case-control study.
    • Wang LE, Han CH, Xiong P, Bondy ML, Yu TK, Brewster AM, Shete S, Arun BK, Buchholz TA, Wei Q.
    • Breast Cancer Res Treat. 2012 Apr;132(3):1147-55. doi: 10.1007/s10549-011-1940-1. Epub 2012 Jan 5.
    • Non-cancer endpoints in BRCA1/2 carriers after risk-reducing salpingo-oophorectomy.
    • Cohen JV, Chiel L, Boghossian L, Jones M, Stopfer JE, Powers J, Rebbeck TR, Nathanson KL, Domchek SM.
    • Fam Cancer. 2012 Mar;11(1):69-75. doi: 10.1007/s10689-011-9480-8.