Miscellaneous Phenotypes
~ Genetics of Breast & Ovarian Cancer

Non-cancer phenotypes and miscellaneous cancer-related phenotypes

List was last updated on Dec 1, 2019 @ 8:14 am.


    • Digital dermatoglyphics in the evaluation of the genetic basis of breast cancer in Bosnian-Herzegovinian population - quantitative analysis.
    • Mušanović J, Metović A, Husremović F, Bejić S, Hasković A, Babić A, Šljuka S.
    • Med Glas (Zenica). 2020 Feb 1;17(1). doi: 10.17392/1041-20. [Epub ahead of print]
    • Assessment of ovarian reserve and reproductive outcomes in BRCA1 or BRCA2 mutation carriers.
    • Ponce J, Fernandez-Gonzalez S, Calvo I, Climent M, Peñafiel J, Feliubadaló L, Teulé A, Lázaro C, Brunet JM, Candás-Estébanez B, Durán Retamal M.
    • Int J Gynecol Cancer. 2019 Nov 27. pii: ijgc-2019-000626. doi: 10.1136/ijgc-2019-000626. [Epub ahead of print]
    • Do BRCA1 and BRCA2 gene mutation carriers have a reduced ovarian reserve? Protocol for a prospective observational study.
    • Winship AL, Willson C, Hansen KR, Hutt KJ, Hickey M.
    • BMJ Open. 2019 Nov 25;9(11):e033810. doi: 10.1136/bmjopen-2019-033810.
    • Prophylactic breast irradiation reduces background parenchymal enhancement (BPE) on MRI: A secondary analysis.
    • Ben-David MA, Corn BW, Evron E, Goldberg H, Pfeffer RM, Abdah-Bortnyak R, Matceyevsky D, Weinstein Y, Golan O, Sklair-Levy M.
    • Breast. 2019 Nov 6;49:70-73. doi: 10.1016/j.breast.2019.10.011. [Epub ahead of print]
    • Fatty acid profiles in erythrocyte membranes following the Mediterranean diet - data from a multicenter lifestyle intervention study in women with hereditary breast cancer (LIBRE).
    • Seethaler B, Basrai M, Vetter W, Lehnert K, Engel C, Siniatchkin M, Halle M, Kiechle M, Bischoff SC.
    • Clin Nutr. 2019 Nov 2. pii: S0261-5614(19)33126-7. doi: 10.1016/j.clnu.2019.10.033. [Epub ahead of print]
    • Differences in cysteine peptidases-like activity in sera of patients with breast cancer.
    • Kilar E, Siewiński M, Hirnle L, Skiba T, Goła B K, Gburek J, Murawski M, Janocha A.
    • Cancer Biomark. 2019 Oct 25. doi: 10.3233/CBM-190327. [Epub ahead of print]
    • Abdominal Imaging of Pancreatic Cysts and Cyst-Associated Pancreatic Cancer in BRCA1/2 Mutation Carriers: A Retrospective Cross-Sectional Study.
    • Cao CX, Sharib JS, Blanco AM, Goldberg D, Bracci P, Mukhtar RA, Esserman LJ, Kirkwood KS.
    • J Am Coll Surg. 2019 Oct 21. pii: S1072-7515(19)32137-4. doi: 10.1016/j.jamcollsurg.2019.09.019. [Epub ahead of print]
    • Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.
    • Homma TK, Freire BL, Honjo Kawahira RS, Dauber A, Funari MFA, Lerario AM, Nishi MY, Albuquerque EV, Vasques GA, Collett-Solberg PF, Miura Sugayama SM, Bertola DR, Kim CA, Arnhold IJP, Malaquias AC, Jorge AAL.
    • J Pediatr. 2019 Oct 17. pii: S0022-3476(19)31082-0. doi: 10.1016/j.jpeds.2019.08.024. [Epub ahead of print]
    • Salivary Gland Function, Antioxidant Defence and Oxidative Damage in the Saliva of Patients with Breast Cancer: Does the BRCA1 Mutation Disturb the Salivary Redox Profile?
    • Sawczuk B, Maciejczyk M, Sawczuk-Siemieniuk M, Posmyk R, Zalewska A, Car H.
    • Cancers (Basel). 2019 Oct 8;11(10). pii: E1501. doi: 10.3390/cancers11101501.
    • Patients with BRCA mutated ovarian cancer may have fewer circulating MDSC and more peripheral CD8+ T cells compared with women with BRCA wild-type disease during the early disease course.
    • Lee JM, Botesteanu DA, Tomita Y, Yuno A, Lee MJ, Kohn EC, Annunziata CM, Matulonis U, MacDonald LA, Nair JR, Macneill KM, Trepel JB.
    • Oncol Lett. 2019 Oct;18(4):3914-3924. doi: 10.3892/ol.2019.10731. Epub 2019 Aug 7.
    • Older breast cancer survivors may harbor hereditary cancer predisposition pathogenic variants and are at risk for clonal hematopoiesis.
    • Slavin TP, Sun CL, Chavarri-Guerra Y, Sedrak MS, Katheria V, Castillo D, Herzog J, Dale W, Hurria A, Weitzel JN.
    • J Geriatr Oncol. 2019 Sep 28. pii: S1879-4068(19)30174-2. doi: 10.1016/j.jgo.2019.09.004. [Epub ahead of print]
    • Mouse mammary tumor virus (MMTV) - like exogenous sequences are associated with sporadic but not hereditary human breast carcinoma.
    • Naccarato AG, Lessi F, Zavaglia K, Scatena C, Al Hamad MA, Aretini P, Menicagli M, Roncella M, Ghilli M, Caligo MA, Mazzanti CM, Bevilacqua G.
    • Aging (Albany NY). 2019 Sep 13;11. doi: 10.18632/aging.102252. [Epub ahead of print]
    • Is it safe for BRCA mutation carriers to become pregnant following breast cancer?
    • [No author given]
    • FORCE. XRAYS. 2019 Sep 4.
    • Association of a Pathway-Specific Genetic Risk Score With Risk of Radiation-Associated Contralateral Breast Cancer.
    • Watt GP, Reiner AS, Smith SA, Stram DO, Capanu M, Malone KE, Lynch CF, John EM, Knight JA, Mellemkjær L, Bernstein L, Brooks JD, Woods M, Liang X, Haile RW, Riaz N, Conti DV, Robson M, Duggan D, Boice JD Jr, Shore RE, Tischkowitz M, Orlow I, Thomas DC, Concannon P, Bernstein JL.
    • JAMA Netw Open. 2019 Sep 4;2(9):e1912259. doi: 10.1001/jamanetworkopen.2019.12259.
    • Relationship Between Hereditary Cancer Syndromes and Oncotype DX Recurrence Score.
    • Casasanta N, Kipnis ST, Linville L, Lipinski S, Knoedler A, Marino A, McHenry A, Biagi T, Stark E, Amdur R, Denduluri N, Rodriguez P, Isaacs C, Kaltman R.
    • Clin Breast Cancer. 2019 Aug 21. pii: S1526-8209(19)30646-9. doi: 10.1016/j.clbc.2019.07.004. [Epub ahead of print]
    • Vascular endothelium function among male carriers of BRCA 1&2 germline mutation.
    • Witberg G, Lev E, Ber Y, Tabachnik T, Sela S, Belo I, Leshem-Lev D, Margel D.
    • Oncotarget. 2019 Aug 20;10(49):5041-5051. doi: 10.18632/oncotarget.27118. eCollection 2019 Aug 20.
    • Prediagnosis aspirin use, DNA methylation, and mortality after breast cancer: A population-based study.
    • Wang T, McCullough LE, White AJ, Bradshaw PT, Xu X, Cho YH, Terry MB, Teitelbaum SL, Neugut AI, Santella RM, Chen J, Gammon MD.
    • Cancer. 2019 Aug 12. doi: 10.1002/cncr.32364. [Epub ahead of print]
    • BRCA1 and BRCA2 Gene Expression: Diurnal Variability and Influence of Shift Work.
    • Bracci M, Ciarapica V, Zabaleta ME, Tartaglione MF, Pirozzi S, Giuliani L, Piva F, Valentino M, Ledda C, Rapisarda V, Stevens RG, Santarelli L.
    • Cancers (Basel). 2019 Aug 9;11(8). pii: E1146. doi: 10.3390/cancers11081146.
    • Correlation between Candidate Single Nucleotide Variants and Several Clinicopathological Risk Factors Related to Breast Cancer in Jordanian Women: A Genotype-Phenotype Study.
    • Al-Eitan LN, Rababa'h DM, Alghamdi MA, Khasawneh RH.
    • J Cancer. 2019 Aug 8;10(19):4647-4654. doi: 10.7150/jca.33857. eCollection 2019.
    • Peritoneal involvement by salpingoliths clinical significance and cytological challenges of interpretation.
    • El Hussein S, Guerrero D, Khader SN.
    • Diagn Cytopathol. 2019 Aug 7. doi: 10.1002/dc.24299. [Epub ahead of print]
    • Case report
    • [A CASE REPORT OF THROMBOTIC THROMBOCYTOPENIC PURPURA (TTP) IN A BREAST CANCER PATIENT].
    • Ben Naftali Y, Duek OS, Ullmann Y.
    • Harefuah. 2019 Aug;158(8):503-505.
    • Case report, [Article in Hebrew]
    • Chromosomal radiosensitivity of triple negative breast cancer patients.
    • Francies FZ, Herd O, Cairns A, Nietz S, Murdoch M, Slabbert J, Claes KB, Vral A, Baeyens A.
    • Int J Radiat Biol. 2019 Jul 26:1-30. doi: 10.1080/09553002.2019.1649502. [Epub ahead of print]
    • A PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms.
    • Kasamo K, Nakamura M, Daimou Y, Sano A.
    • Neurosci Res. 2019 Jul 23. pii: S0168-0102(19)30197-X. doi: 10.1016/j.neures.2019.07.006. [Epub ahead of print]
    • Case report
    • Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.
    • Brandão RD, Mensaert K, López-Perolio I, Tserpelis D, Xenakis M, Lattimore V, Walker LC, Kvist A, Vega A, Gutiérrez-Enríquez S, Díez O; KConFaB Investigators, de la Hoya M, Spurdle AB, De Meyer T, Blok MJ.
    • Int J Cancer. 2019 Jul 15;145(2):401-414. doi: 10.1002/ijc.32114. Epub 2019 Feb 7.
    • 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.
    • Lambertini M, Olympios N, Lequesne J, Calbrix C, Fontanilles M, Loeb A, Leheurteur M, Demeestere I, Di Fiore F, Perdrix A, Clatot F.
    • 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.
    • Lancet Oncol. 2019 Jul 9. pii: S1470-2045(19)30340-7. doi: 10.1016/S1470-2045(19)30340-7. [Epub ahead of print]

    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.
    • Carugno M, Maggioni C, Crespi E, Bonzini M, Cuocina S, Dioni L, Tarantini L, Consonni D, Ferrari L, Pesatori AC.
    • Int J Environ Res Public Health. 2019 Jun 28;16(13). pii: E2292. doi: 10.3390/ijerph16132292.
    • Predictors of mammographic density among women with a strong family history of breast cancer.
    • Moran O, Eisen A, Demsky R, Blackmore K, Knight JA, Panchal S, Ginsburg O, Zbuk K, Yaffe M, Metcalfe KA, Narod SA, Kotsopoulos J.
    • BMC Cancer. 2019 Jun 26;19(1):631. doi: 10.1186/s12885-019-5855-2.
    • 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.
    • Miao Y, Wang P, Xie B, Yang M, Li S, Cui Z, Fan Y, Li M, Xiong B.
    • Cell Death Dis. 2019 Jun 17;10(7):474. doi: 10.1038/s41419-019-1720-0.
    • Talking Genes in Breast and Pancreatic Malignancies.
    • Barbara M, Tsen A, Tenner L, Rosenkranz L.
    • Mater Sociomed. 2019 Jun;31(2):146-149. doi: 10.5455/msm.2019.31.146-149.
    • Breast Density in a Contemporary Cohort of Women With Ductal Carcinoma In Situ (DCIS).
    • Gooch JC, Chun J, Kaplowitz E, Kurz E, Guth A, Lee J, Schnabel F.
    • Ann Surg Oncol. 2019 May 30. doi: 10.1245/s10434-019-07479-5. [Epub ahead of print]
    • Curation and bioinformatic analysis of strabismus genes supports functional heterogeneity and proposes candidate genes with connections to RASopathies.
    • Ye XC, van der Lee R, Wasserman WW.
    • Gene. 2019 May 20;697:213-226. doi: 10.1016/j.gene.2019.02.020. Epub 2019 Feb 15.
    • 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.
    • Clin Breast Cancer. 2019 May 18. pii: S1526-8209(19)30066-7. doi: 10.1016/j.clbc.2019.05.004. [Epub ahead of print]
    • A comprehensive gene-environment interaction analysis in Ovarian Cancer using genome-wide significant common variants.
    • Kim S, Wang M, Tyrer JP, Jensen A, Wiensch A, Liu G, Lee AW, Ness RB, Salvatore M, Tworoger SS, Whittemore AS, Anton-Culver H, Sieh W, Olson SH, Berchuck A, Goode EL, Goodman MT, Doherty JA, Chenevix-Trench G, Rossing MA, Webb PM, Giles GG, Terry KL, Ziogas A, Fortner RT, Menon U, Gayther SA, Wu AH, Song H, Brooks-Wilson A, Bandera EV, Cook LS, Cramer DW, Milne RL, Winham SJ, Kjaer SK, Modugno F, Thompson PJ, Chang-Claude J, Harris HR, Schildkraut JM, Le ND, Wentzensen N, Trabert B, Høgdall E, Huntsman D, Pike MC, Pharoah PDP, Pearce CL, Mukherjee B.
    • 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.
    • Li D, Harlan-Williams LM, Kumaraswamy E, Jensen RA.
    • Cancer Res. 2019 Apr 16. doi: 10.1158/0008-5472.CAN-18-3190. [Epub ahead of print]
    • Review
    • Effects of Breast Cancer Genes 1 and 2 on Cardiovascular Diseases.
    • Zhou S, Jin J, Wang J, Zhang Z, Huang S, Zheng Y, Cai L.
    • 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.
    • Duraikannu A, Krishnan A, Chandrasekhar A, Zochodne DW.
    • 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.
    • Thiruvengadam SS, Chuang J, Huang R, Girotra M, Park WG.
    • 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.
    • Kwiatkowski F, Perthus I, Uhrhammer N, Francannet C, Arbre M, Bidet Y, Bignon YJ.
    • Congenit Anom (Kyoto). 2019 Feb 20. doi: 10.1111/cga.12329. [Epub ahead of print]
    • The role of menopausal hormone therapy in women with or at risk of ovarian and breast cancers: Misconceptions and current directions.
    • Temkin SM, Mallen A, Bellavance E, Rubinsak L, Wenham RM.
    • 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.
    • 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.
    • PLoS Genet. 2018 May 2;14(5):e1007340. doi: 10.1371/journal.pgen.1007340. [Epub ahead of print]
    • Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
    • Yehia L, Ni Y, Sesock K, Niazi F, Fletcher B, Chen HJL, LaFramboise T, Eng C.
    • PLoS Genet. 2018 Apr 23;14(4):e1007352. doi: 10.1371/journal.pgen.1007352. eCollection 2018 Apr.
    • Common genetic variation and novel loci associated with volumetric mammographic density.
    • Brand JS, Humphreys K, Li J, Karlsson R, Hall P, Czene K.
    • Breast Cancer Res. 2018 Apr 17;20(1):30. doi: 10.1186/s13058-018-0954-6.
    • Association of sporadic and familial Barrett's esophagus with breast cancer.
    • Chan MQ, Blum AE, Chandar AK, Emmons AMLK, Shindo Y, Brock W, Falk GW, Canto MI, Wang JS, Iyer PG, Shaheen NJ, Grady WM, Abrams JA, Thota PN, Guda KK, Chak A.
    • Dis Esophagus. 2018 Apr 1;31(4). doi: 10.1093/dote/doy007.
    • Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.
    • Catucci I, Osorio A, Arver B, Neidhardt G, Bogliolo M, Zanardi F, Riboni M, Minardi S, Pujol R, Azzollini J, Peissel B, Manoukian S, De Vecchi G, Casola S, Hauke J, Richters L, Rhiem K, Schmutzler RK, Wallander K, Törngren T, Borg Å, Radice P, Surrallés J, Hahnen E, Ehrencrona H, Kvist A, Benitez J, Peterlongo P.
    • Genet Med. 2018 Apr;20(4):452-457. doi: 10.1038/gim.2017.123. Epub 2017 Aug 24.
    • Case report

    Press: Link Between Fanconi Anemia Genetic Mutations and Cancer Risk. (OncoTherapy Network)

    • Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia.
    • Bogliolo M, Bluteau D, Lespinasse J, Pujol R, Vasquez N, d'Enghien CD, Stoppa-Lyonnet D, Leblanc T, Soulier J, Surrallés J.
    • Genet Med. 2018 Apr;20(4):458-463. doi: 10.1038/gim.2017.124. Epub 2017 Aug 24.
    • Case report
    • Altered expression of telomere-associated genes in leukocytes among BRCA1 and BRCA2 carriers.
    • Tanaka H, Phipps EA, Wei T, Wu X, Goswami C, Liu Y, Sledge GW Jr, Mina L, Herbert BS.
    • Mol Carcinog. 2018 Apr;57(4):567-575. doi: 10.1002/mc.22773. Epub 2018 Jan 5.
    • The Assessment of Background Parenchymal Enhancement (BPE) in a High-Risk Population: What Causes BPE?
    • You C, Kaiser AK, Baltzer P, Krammer J, Gu Y, Peng W, Schönberg SO, Kaiser CG.
    • Transl Oncol. 2018 Apr;11(2):243-249. doi: 10.1016/j.tranon.2017.12.006. Epub 2018 Jan 28.
    • SYK expression level distinguishes control from BRCA1-mutated lymphocytes.
    • Zahavi T, Sonnenblick A, Shimshon Y, Kadouri L, Peretz T, Salmon AY, Salmon-Divon M.
    • Cancer Manag Res. 2018 Mar 26;10:589-598. doi: 10.2147/CMAR.S156359. eCollection 2018.
    • Premature ovarian aging in BRCA carriers: a prototype of systemic precocious aging?
    • Ben-Aharon I, Levi M, Margel D, Yerushalmi R, Rizel S, Perry S, Sharon E, Hasky N, Abir R, Fisch B, Tobar A, Shalgi R, Stemmer SM.
    • Oncotarget. 2018 Mar 23;9(22):15931-15941. doi: 10.18632/oncotarget.24638. eCollection 2018 Mar 23.
    • Cardiovascular Concerns in BRCA1 and BRCA2 Mutation Carriers.
    • Gast KC, Viscuse PV, Nowsheen S, Haddad TC, Mutter RW, Wahner Hendrickson AE, Couch FJ, Ruddy KJ.
    • Curr Treat Options Cardiovasc Med. 2018 Mar 1;20(2):18. doi: 10.1007/s11936-018-0609-z.
    • Review
    • Homozygous loss of function BRCA1 variant causing a fanconi-anemia-like phenotype, a clinical report and review of previous patients.
    • Freire BL, Homma TK, Funari MFA, Lerario AM, de Medeiros Leal A, Rodrigues Pereira Velloso ED, Malaquias AC, Jorge AAL.
    • Eur J Med Genet. 2018 Mar;61(3):130-133. doi: 10.1016/j.ejmg.2017.11.003. Epub 2017 Nov 10.
    • Case report, Review
    • Bone loss in women with BRCA1 and BRCA2 mutations.
    • Powell CB, Alabaster A, Stoller N, Armstrong MA, Salyer C, Hamilton I, Raine-Bennett T.
    • Gynecol Oncol. 2018 Mar;148(3):535-539. doi: 10.1016/j.ygyno.2018.01.013.
    • A15 Blood cadmium (Cd) level as a marker of cancer risk in BRCA1 (+) prospective cohort study.
    • Marciniak W, Derkacz R, 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):A15. Meeting abstracts from Clinical Genetics of Cancer 2017; Szczecin, Poland. 21-22 September 2017. doi: 10.1186/s13053-018-0087-z.
    • 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
    • Inherited factors contribute to an inverse association between preeclampsia and breast cancer.
    • Yang H, He W, Eriksson M, Li J, Holowko N, Chiesa F, Hall P, Czene K.
    • Breast Cancer Res. 2018 Jan 23;20(1):6. doi: 10.1186/s13058-017-0930-6.
    • A plasma telomeric cell-free DNA level in unaffected women with BRCA1 or/and BRCA2 mutations: a pilot study.
    • Dey S, Marino N, Bishop K, Dahlgren PN, Shendre A, Storniolo AM, He C, Tanaka H.
    • Oncotarget. 2017 Dec 29;9(3):4214-4222. doi: 10.18632/oncotarget.23767. eCollection 2018 Jan 9.
    • Reproductive potential and performance of fertility preservation strategies in BRCA-mutated breast cancer patients.
    • Lambertini M, Goldrat O, Ferreira AR, Dechene J, Azim HA Jr, Desir J, Delbaere A, t'Kint de Roodenbeke MD, de Azambuja E, Ignatiadis M, Demeestere I.
    • 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)

    • BRCA mutations and reproduction.
    • Daum H, Peretz T, Laufer N.
    • Fertil Steril. 2018 Jan;109(1):33-38. doi: 10.1016/j.fertnstert.2017.12.004.
    • Review
    • Ovarian Stimulation in Patients With Cancer: Impact of Letrozole and BRCA Mutations on Fertility Preservation Cycle Outcomes.
    • Turan V, Bedoschi G, Emirdar V, Moy F, Oktay K.
    • Reprod Sci. 2018 Jan;25(1):26-32. doi: 10.1177/1933719117728800. Epub 2017 Sep 6.
    • Overactive BRCA1 Affects Presenilin 1 in Induced Pluripotent Stem Cell-Derived Neurons in Alzheimer's Disease.
    • Wezyk M, Szybinska A, Wojsiat J, Szczerba M, Day K, Ronnholm H, Kele M, Berdynski M, Peplonska B, Fichna JP, Ilkowski J, Styczynska M, Barczak A, Zboch M, Filipek-Gliszczynska A, Bojakowski K, Skrzypczak M, Ginalski K, Kabza M, Makalowska I, Barcikowska-Kotowicz M, Wojda U, Falk A, Zekanowski C.
    • J Alzheimers Dis. 2018;62(1):175-202. doi: 10.3233/JAD-170830.
    • Metabolomics reveals novel blood plasma biomarkers associated to the BRCA1-mutated phenotype of human breast cancer.
    • Roig B, Rodríguez-Balada M, Samino S, Lam EW, Guaita-Esteruelas S, Gomes AR, Correig X, Borràs J, Yanes O, Gumà J.
    • Sci Rep. 2017 Dec 19;7(1):17831. doi: 10.1038/s41598-017-17897-8.
    • A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.
    • Fouquet B, Pawlikowska P, Caburet S, Guigon C, Mäkinen M, Tanner L, Hietala M, Urbanska K, Bellutti L, Legois B, Bessieres B, Gougeon A, Benachi A, Livera G, Rosselli F, Veitia RA, Misrahi M.
    • Elife. 2017 Dec 12;6. pii: e30490. doi: 10.7554/eLife.30490.
    • Network Meta-Analysis on the Effects of DNA Damage Response-Related Gene Mutations on Overall Survival of Breast Cancer Based on TCGA Database.
    • Liu C, Chang H, Li XH, Qi YF, Wang JO, Zhang Y, Yang XH.
    • J Cell Biochem. 2017 Dec;118(12):4728-4734. doi: 10.1002/jcb.26140. Epub 2017 Jun 22.
    • Meta-Analysis
    • Dermatomyositis - key to diagnosing ovarian cancer, monitoring treatment and detecting recurrent disease: Case report.
    • Field C, Goff BA.
    • Gynecol Oncol Rep. 2017 Nov 28;23:1-3. doi: 10.1016/j.gore.2017.11.009. eCollection 2018 Feb.
    • Is there a difference in testosterone levels and its regulators in men carrying BRCA mutations?
    • Goldberg H, Grievink LS, Mano R, Ber Y, Ozalbo R, Tuval S, Baniel J, Margel D.
    • Oncotarget. 2017 Oct 10;8(61):103843-103850. doi: 10.18632/oncotarget.21802. eCollection 2017 Nov 28.
    • Adipokines in hereditary breast cancer patients and healthy relatives.
    • Sambiasi D, Summa S, Digennaro M, Pilato B, Paradiso A, Tommasi S.
    • Oncotarget. 2017 Sep 18;8(60):101255-101261. doi: 10.18632/oncotarget.21018. eCollection 2017 Nov 24.
    • Paraneoplastic fasciitis and polyarthritis syndrome as a manifestation of breast cancer recurrence in a BRCA1 gene-positive patient.
    • Kennedy N, Chapman P.
    • Int J Rheum Dis. 2017 Nov;20(11):1876-1878. doi: 10.1111/1756-185X.12773. Epub 2015 Oct 7.
    • Letter
    • BRCA1 mutation carriers have a lower number of mature oocytes after ovarian stimulation for IVF/PGD.
    • Derks-Smeets IAP, van Tilborg TC, van Montfoort A, Smits L, Torrance HL, Meijer-Hoogeveen M, Broekmans F, Dreesen JCFM, Paulussen ADC, Tjan-Heijnen VCG, Homminga I, van den Berg MMJ, Ausems MGEM, de Rycke M, de Die-Smulders CEM, Verpoest W, van Golde R.
    • J Assist Reprod Genet. 2017 Nov;34(11):1475-1482. doi: 10.1007/s10815-017-1014-3. Epub 2017 Aug 22.
    • Association between single nucleotide polymorphism rs9534275 and the risk of coronary artery disease and ischemic stroke.
    • Miao L, Yin RX, Yang S, Huang F, Chen WX, Cao XL.
    • 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.
    • Goldberg H, Grievink LS, Mano R, Ber Y, Ozalbo R, Tuval S, Baniel J, Margel D.
    • Urology. 2017 Oct;108:71-75. doi: 10.1016/j.urology.2017.05.036. Epub 2017 May 31.
    • Tumor characteristics and family history in relation to mammographic density and breast cancer: The French E3N cohort.
    • Maskarinec G, Dartois L, Delaloge S, Hopper J, Clavel-Chapelon F, Baglietto L.
    • Cancer Epidemiol. 2017 Aug;49:156-160. doi: 10.1016/j.canep.2017.07.003. Epub 2017 Jul 8.
    • Telomere Length Is Predictive of Breast Cancer Risk in BRCA2 Mutation Carriers.
    • Thorvaldsdottir B, Aradottir M, Stefansson OA, Bodvarsdottir SK, Eyfjörd JE.
    • Cancer Epidemiol Biomarkers Prev. 2017 Aug;26(8):1248-1254. doi: 10.1158/1055-9965.EPI-16-0946. Epub 2017 Feb 24.
    • Effect of Oral Docosahexaenoic Acid (DHA) Supplementation on DHA Levels and Omega-3 Index in Red Blood Cell Membranes of Breast Cancer Patients.
    • Molfino A, Amabile MI, Mazzucco S, Biolo G, Farcomeni A, Ramaccini C, Antonaroli S, Monti M, Muscaritoli M.
    • Front Physiol. 2017 Jul 28;8:549. doi: 10.3389/fphys.2017.00549. eCollection 2017.
    • Hormone receptor status of a first primary breast cancer predicts contralateral breast cancer risk in the WECARE study population.
    • Reiner AS, Lynch CF, Sisti JS, John EM, Brooks JD, Bernstein L, Knight JA, Hsu L, Concannon P, Mellemkjær L, Tischkowitz M, Haile RW, Shen R, Malone KE, Woods M, Liang X, Morrow M, Bernstein JL; WECARE Study Collaborative Group.
    • Breast Cancer Res. 2017 Jul 19;19(1):83. doi: 10.1186/s13058-017-0874-x.
    • Identification of differentially methylated BRCA1 and CRISP2 DNA regions as blood surrogate markers for cardiovascular disease.
    • Istas G, Declerck K, Pudenz M, Szic KSV, Lendinez-Tortajada V, Leon-Latre M, Heyninck K, Haegeman G, Casasnovas JA, Tellez-Plaza M, Gerhauser C, Heiss C, Rodriguez-Mateos A, Berghe WV.
    • Sci Rep. 2017 Jul 11;7(1):5120. doi: 10.1038/s41598-017-03434-0.
    • Normal breast tissue DNA methylation differences at regulatory elements are associated with the cancer risk factor age.
    • Johnson KC, Houseman EA, King JE, Christensen BC.
    • Breast Cancer Res. 2017 Jul 10;19(1):81. doi: 10.1186/s13058-017-0873-y.
    • Immune Gene Expression Is Associated with Genomic Aberrations in Breast Cancer.
    • Safonov A, Jiang T, Bianchini G, Győrffy B, Karn T, Hatzis C, Pusztai L.
    • Cancer Res. 2017 Jun 15;77(12):3317-3324. doi: 10.1158/0008-5472.CAN-16-3478. Epub 2017 Apr 20.
    • Pubertal development in girls by breast cancer family history: the LEGACY girls cohort.
    • Terry MB, Keegan THM, Houghton LC, Goldberg M, Andrulis IL, Daly MB, Buys SS, Wei Y, Whittemore AS, Protacio A, Bradbury AR, Chung WK, Knight JA, John EM.
    • Breast Cancer Res. 2017 Jun 8;19(1):69. doi: 10.1186/s13058-017-0849-y.
    • 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.

    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.
    • Linschoten M, Teske AJ, Baas AF, Vink A, Dooijes D, Baars HF, Asselbergs FW.
    • J Card Fail. 2017 Jun;23(6):476-479. doi: 10.1016/j.cardfail.2017.03.003. Epub 2017 Mar 14.
    • Case report
    • 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.
    • Antimüllerian hormone levels are lower in BRCA2 mutation carriers.
    • Johnson L, Sammel MD, Domchek S, Schanne A, Prewitt M, Gracia C.
    • Fertil Steril. 2017 May;107(5):1256-1265.e6. doi: 10.1016/j.fertnstert.2017.03.018.
    • A brother and sister with breast cancer, BRCA2 mutations and bilateral supernumerary nipples.
    • McKay M, Coad R.
    • Ann Transl Med. 2017 Mar;5(5):106. doi: 10.21037/atm.2017.03.02.
    • Familial Gastrointestinal Stromal Tumor with Germline KIT Mutations Accompanying Hereditary Breast and Ovarian Cancer Syndrome.
    • Sekido Y, Ohigashi S, Takahashi T, Hayashi N, Suzuki K, Hirota S.
    • Anticancer Res. 2017 Mar;37(3):1425-1431.
    • Case report
    • Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay.
    • Baert A, Depuydt J, Van Maerken T, Poppe B, Malfait F, Van Damme T, De Nobele S, Perletti G, De Leeneer K, Claes KB, Vral A.
    • Oncol Rep. 2017 Mar;37(3):1379-1386. doi: 10.3892/or.2017.5407. Epub 2017 Jan 25.
    • Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies.
    • Azzollini J, Pesenti C, Ferrari L, Fontana L, Calvello M, Peissel B, Portera G, Tabano S, Carcangiu ML, Riva P, Miozzo M, Manoukian S.
    • PLoS One. 2017 Feb 15;12(2):e0171663. doi: 10.1371/journal.pone.0171663. eCollection 2017.
    • An Exploratory Study to Determine Whether BRCA1 and BRCA2 Mutation Carriers Have Higher Risk of Cardiac Toxicity.
    • Sajjad M, Fradley M, Sun W, Kim J, Zhao X, Pal T, Md RI.
    • Genes (Basel). 2017 Feb 2;8(2). pii: E59. doi: 10.3390/genes8020059.
    • Distinct Brca1 Mutations Differentially Reduce Hematopoietic Stem Cell Function.
    • Mgbemena VE, Signer RA, Wijayatunge R, Laxson T, Morrison SJ, Ross TS.
    • Cell Rep. 2017 Jan 24;18(4):947-960. doi: 10.1016/j.celrep.2016.12.075.
    • HE4 Serum Levels in Patients with BRCA1 Gene Mutation Undergoing Prophylactic Surgery as well as in Other Benign and Malignant Gynecological Diseases.
    • Chudecka-Głaz A, Cymbaluk-Płoska A, Strojna A, Menkiszak J.
    • Dis Markers. 2017;2017:9792756. doi: 10.1155/2017/9792756. Epub 2017 Jan 15.
    • The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
    • Seemanova E, Varon R, Vejvalka J, Jarolim P, Seeman P, Chrzanowska KH, Digweed M, Resnick I, Kremensky I, Saar K, Hoffmann K, Dutrannoy V, Karbasiyan M, Ghani M, Barić I, Tekin M, Kovacs P, Krawczak M, Reis A, Sperling K, Nothnagel M.
    • PLoS One. 2016 Dec 9;11(12):e0167984. doi: 10.1371/journal.pone.0167984. eCollection 2016.
    • Utilizing fluorescent life time imaging microscopy technology for identify carriers of BRCA2 mutation.
    • Zahavi T, Yahav G, Shimshon Y, Gershanov S, Kaduri L, Sonneblick A, Fixler D, Salmon AY, Salmon-Divon M.
    • Biochem Biophys Res Commun. 2016 Nov 4;480(1):36-41. doi: 10.1016/j.bbrc.2016.10.013. Epub 2016 Oct 6.
    • Potential implications on female fertility and reproductive lifespan in BRCA germline mutation women.
    • de la Noval BD.
    • Arch Gynecol Obstet. 2016 Nov;294(5):1099-1103. Epub 2016 Aug 25.
    • Letter
    • 18F-FDG PET/CT Imaging of Cauda Equina Syndrome Secondary to Leptomeningeal Metastatic Breast Cancer.
    • Solnes LB, Javadi MS, Rowe SP.
    • Clin Nucl Med. 2016 Nov;41(11):e485-e486.
    • Case report
    • Analysis of alternative lengthening of telomere markers in BRCA1 defective cells.
    • Kargaran PK, Yasaei H, Anjomani-Virmouni S, Mangiapane G, Slijepcevic P.
    • Genes Chromosomes Cancer. 2016 Nov;55(11):864-76. doi: 10.1002/gcc.22386. Epub 2016 Jul 26.
    • 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.
    • Kim SJ, Zuchniak A, Sohn KJ, Lubinski J, Demsky R, Eisen A, Akbari MR, Kim YI, Narod SA, Kotsopoulos J.
    • Am J Clin Nutr. 2016 Sep;104(3):671-7. doi: 10.3945/ajcn.116.133470. Epub 2016 Jul 27.
    • Cardiovascular risk of BRCA1/2 mutation carriers: A review.
    • van Westerop LL, Arts-de Jong M, Hoogerbrugge N, de Hullu JA, Maas .
    • Maturitas. 2016 Sep;91:135-9. doi: 10.1016/j.maturitas.2016.06.012. Epub 2016 Jun 22.
    • Review
    • Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent.
    • Guo Y, Warren Andersen S, Shu XO, Michailidou K, Bolla MK, Wang Q, Garcia-Closas M, Milne RL, Schmidt MK, Chang-Claude J, Dunning A, Bojesen SE, Ahsan H, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bogdanova NV, Bonanni B, Børresen-Dale AL, Brand J, Brauch H, Brenner H, Brüning T, Burwinkel B, Casey G, Chenevix-Trench G, Couch FJ, Cox A, Cross SS, Czene K, Devilee P, Dörk T, Dumont M, Fasching PA, Figueroa J, Flesch-Janys D, Fletcher O, Flyger H, Fostira F, Gammon M, Giles GG, Guénel P, Haiman CA, Hamann U, Hooning MJ, Hopper JL, Jakubowska A, Jasmine F, Jenkins M, John EM, Johnson N, Jones ME, Kabisch M, Kibriya M, Knight JA, Koppert LB, Kosma VM, Kristensen V, Le Marchand L, Lee E, Li J, Lindblom A, Luben R, Lubinski J, Malone KE, Mannermaa A, Margolin S, Marme F, McLean C, Meijers-Heijboer H, Meindl A, Neuhausen SL, Nevanlinna H, Neven P, Olson JE, Perez JI, Perkins B, Peterlongo P, Phillips KA, Pylkäs K, Rudolph A, Santella R, Sawyer EJ, Schmutzler RK, Seynaeve C, Shah M, Shrubsole MJ, Southey MC, Swerdlow AJ, Toland AE, Tomlinson I, Torres D, Truong T, Ursin G, Van Der Luijt RB, Verhoef S, Whittemore AS, Winqvist R, Zhao H, Zhao S, Hall P, Simard J, Kraft P, Pharoah P, Hunter D, Easton DF, Zheng W.
    • PLoS Med. 2016 Aug 23;13(8):e1002105. doi: 10.1371/journal.pmed.1002105. eCollection 2016.
    • Reduced BRCA1 transcript levels in freshly isolated blood leukocytes from BRCA1 mutation carriers is mutation specific.
    • Chehade R, Pettapiece-Phillips R, Salmena L, Kotlyar M, Jurisica I, Narod SA, Akbari MR, Kotsopoulos J.
    • Breast Cancer Res. 2016 Aug 17;18(1):87. doi: 10.1186/s13058-016-0739-8.
    • Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers.
    • Vos JR, Oosterwijk JC, Aalfs CM, Rookus MA, Adank MA, van der Hout AH, van Asperen CJ, Gómez Garcia EB, Mensenkamp AR, Jager A, Ausems MG, Mourits MJ, de Bock GH; Hereditary Breast and Ovarian Cancer Research Group Netherlands.
    • 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.
    • Fackenthal JD, Yoshimatsu T, Zhang B, de Garibay GR, Colombo M, De Vecchi G, Ayoub SC, Lal K, Olopade OI, Vega A, Santamariña M, Blanco A, Wappenschmidt B, Becker A, Houdayer C, Walker LC, López-Perolio I, Thomassen M, Parsons M, Whiley P, Blok MJ, Brandão RD, Tserpelis D, Baralle D, Montalban G, Gutiérrez-Enríquez S, Díez O, Lazaro C; kConFaB Investigators, Spurdle AB, Radice P, de la Hoya M.
    • J Med Genet. 2016 Aug;53(8):548-558. doi: 10.1136/jmedgenet-2015-103570. Epub 2016 Apr 8.

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

    • 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.
    • Menopause. 2016 Aug;23(8):903-10. doi: 10.1097/GME.0000000000000633.
    • [BRCA1/2 gene mutation and clinicopathologic features of triple negative breast cancer].
    • Ma ZP, Wang W, Zhang W.
    • Zhonghua Bing Li Xue Za Zhi. 2016 Jun 8;45(6):397-400. doi: 10.3760/cma.j.issn.0529-5807.2016.06.009.
    • [Article in Chinese]
    • Thyroid Hormones and Vitamin D in Patients with Breast Cancer with Mutations in BRCA1 or BRCA2 Genes.
    • Kolben T, Hary T, Holdt LM, Schwarz TM, Goess C, Wuerstlein R, Gallwas J, Toth B, Weissenbacher T, Jeschke U, Harbeck N, Ditsch N.
    • Anticancer Res. 2016 Jun;36(6):3185-90.
    • Adult body mass index and risk of ovarian cancer by subtype: a Mendelian randomization study.
    • Dixon SC, Nagle CM, Thrift AP, Pharoah PD, Pearce CL, Zheng W, Painter JN, Chenevix-Trench AG, Fasching PA, Beckmann MW, Lambrechts D, Vergote I, Lambrechts S, Van Nieuwenhuysen E, Rossing MA, Doherty JA, Wicklund KG, Chang-Claude J, Rudolph A, Moysich KB, Odunsi K, Goodman MT, Wilkens LR, Thompson PJ, Shvetsov YB, Dörk T, Park-Simon TW, Hillemanns P, Bogdanova N, Butzow R, Nevanlinna H, Pelttari LM, Leminen A, Modugno F, Ness RB, Edwards RP, Kelley JL, Heitz F, Karlan BY, Kjær SK, Høgdall E, Jensen A, Goode EL, Fridley BL, Cunningham JM, Winham SJ, Giles GG, Bruinsma F, Milne RL, Southey MC, Hildebrandt MA, Wu X, Lu KH, Liang D, Levine DA, Bisogna M, Schildkraut JM, Berchuck A, Cramer DW, Terry KL, Bandera EV, Olson SH, Salvesen HB, Thomsen LC, Kopperud RK, Bjorge L, Kiemeney LA, Massuger LF, Pejovic T, Cook LS, Le ND, Swenerton KD, Brooks-Wilson A, Kelemen LE, Lubiński J, Huzarski T, Gronwald J, Menkiszak J, Wentzensen N, Brinton L, Yang H, Lissowska J, Høgdall CK, Lundvall L, Song H, Tyrer JP, Campbell I, Eccles D, Paul J, Glasspool R, Siddiqui N, Whittemore AS, Sieh W, McGuire V, Rothstein JH, Narod SA, Phelan C, Risch HA, McLaughlin JR, Anton-Culver H, Ziogas A, Menon U, Gayther SA, Ramus SJ, Gentry-Maharaj A, Wu AH, Pike MC, Tseng CC, Kupryjanczyk J, Dansonka-Mieszkowska A, Budzilowska A, Spiewankiewicz B, Webb PM; Ovarian Cancer Association Consortium.
    • Int J Epidemiol. 2016 Jun;45(3):884-95. doi: 10.1093/ije/dyw158. Epub 2016 Jul 10.
    • The LEGACY Girls Study: Growth and Development in the Context of Breast Cancer Family History.
    • John EM, Terry MB, Keegan TH, Bradbury AR, Knight JA, Chung WK, Frost CJ, Lilge L, Patrick-Miller L, Schwartz LA, Whittemore AS, Buys SS, Daly MB, Andrulis IL.
    • Epidemiology. 2016 May;27(3):438-48. doi: 10.1097/EDE.0000000000000456.
    • BRCA1 and BRCA2 sequence variations detected with next-generation sequencing in patients with premature ovarian insufficiency.
    • Yılmaz NK, Karagin PH, Terzi YK, Kahyaoğlu İ, Yılmaz S, Erkaya S, Şahin Fİ.
    • J Turk Ger Gynecol Assoc. 2016 Jan 12;17(2):77-82. doi: 10.5152/jtgga.2016.16035. eCollection [2016 Jun;].
    • Detection of Human Papillomavirus Genotypes and Major BRCA Mutations in Familial Breast Cancer.
    • Mohtasebi P, Rassi H, Maleki F, Hajimohammadi S, Bagheri Z, Fakhar Miandoab M, Naserbakht M.
    • Monoclon Antib Immunodiagn Immunother. 2016 Jun;35(3):135-40. doi: 10.1089/mab.2015.0081. Epub 2016 May 17.
    • Epigenetic reprogramming of fallopian tube fimbriae in BRCA mutation carriers defines early ovarian cancer evolution.
    • Bartlett TE, Chindera K, McDermott J, Breeze CE, Cooke WR, Jones A, Reisel D, Karegodar ST, Arora R, Beck S, Menon U, Dubeau L, Widschwendter M.
    • Nat Commun. 2016 May 24;7:11620. doi: 10.1038/ncomms11620.
    • Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation.
    • Baert A, Depuydt J, Van Maerken T, Poppe B, Malfait F, Storm K, van den Ende J, Van Damme T, De Nobele S, Perletti G, De Leeneer K, Claes KB, Vral A.
    • Breast Cancer Res. 2016 May 17;18(1):52. doi: 10.1186/s13058-016-0709-1.
    • Breast cancer in a male-to-female transsexual patient with a BRCA2 mutation.
    • Corman V, Potorac I, Manto F, Dassy S, Segers K, Thiry A, Bours V, Daly AF, Beckers A.
    • Endocr Relat Cancer. 2016 May;23(5):391-7. doi: 10.1530/ERC-16-0057. Epub 2016 Mar 21.
    • Case report

    Comments from NSGC Discussion Forum Cancer SIG

    Subject: Cancer risks for transgender patient

    • Anti-Müllerian hormone serum concentrations of women with germline BRCA1 or BRCA2 mutations.
    • Phillips KA, Collins IM, Milne RL, McLachlan SA, Friedlander M, Hickey M, Stern C, Hopper JL, Fisher R, Kannemeyer G, Picken S, Smith CD, Kelsey TW, Anderson RA; Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab).
    • Hum Reprod. 2016 May;31(5):1126-32. doi: 10.1093/humrep/dew044.
    • PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.
    • Pharoah PD, Song H, Dicks E, Intermaggio MP, Harrington P, Baynes C, Alsop K; Australian Ovarian Cancer Study Group, Bogdanova N, Cicek MS, Cunningham JM, Fridley BL, Gentry-Maharaj A, Hillemanns P, Lele S, Lester J, McGuire V, Moysich KB, Poblete S, Sieh W, Sucheston-Campbell L, Widschwendter M; Ovarian Cancer Association Consortium, Whittemore AS, Dörk T, Menon U, Odunsi K, Goode EL, Karlan BY, Bowtell DD, Gayther SA, Ramus SJ.
    • J Natl Cancer Inst. 2016 Jan 27;108(3). pii: djv347. doi: 10.1093/jnci/djv347. Print 2016 Mar.
    • The function of MiR-21 expression differences and pathogenesis on familial and triple negative breast Cancer serum.
    • Song N, Liang B, Wang D.
    • Pak J Pharm Sci. 2016 Mar;29(2 Suppl):679-84.
    • Brca1 deficiency causes bone marrow failure and spontaneous hematologic malignancies in mice.
    • Vasanthakumar A, Arnovitz S, Marquez R, Lepore J, Rafidi G, Asom A, Weatherly M, Davis EM, Neistadt B, Duszynski R, Vardiman JW, Le Beau MM, Godley LA, Churpek JE.
    • Blood. 2016 Jan 21;127(3):310-3. doi: 10.1182/blood-2015-03-635599. Epub 2015 Dec 7.
    • Hypodontia and ovarian cancer: A systematic review.
    • Iavazzo C, Papakiritsis M, Gkegkes ID.
    • J Turk Ger Gynecol Assoc. 2016 Jan 12;17(1):41-4. doi: 10.5152/jtgga.2015.15174. eCollection 2016.
    • DNA Methylation and microRNA patterns are in association with the expression of BRCA1 in ovarian cancer.
    • Shariati-Kohbanani M, Zare-Bidaki M, Taghavi MM, Taghipour Z, Shabanizadeh A, Kennedy D, Dahim H, Salahshoor MR, Jalili C, Kazemi Arababadi M.
    • Cell Mol Biol (Noisy-le-grand). 2016 Jan 11;62(1):16-23.
    • Review
    • Cardiac function in BRCA1/2 mutation carriers with history of breast cancer treated with anthracyclines.
    • Barac A, Lynce F, Smith KL, Mete M, Shara NM, Asch FM, Nardacci MP, Wray L, Herbolsheimer P, Nunes RA, Swain SM, Warren R, Peshkin BN, Isaacs C.
    • Breast Cancer Res Treat. 2016 Jan;155(2):285-93. doi: 10.1007/s10549-016-3678-2. Epub 2016 Jan 9.
    • BRCA2 gene mutations and coagulation-associated biomarkers.
    • Perez-Segura P, Zamorano-León JJ, Acosta D, Santos-Sancho JM, Modrego J, Caldés T, de la Hoya M, Díaz-Rubio E, Díaz-Millán I, de Las Heras N, Rico Zalba LA, Lahera V, Melander O, López Farré A.
    • Thromb Haemost. 2016 Jan;115(2):415-23. doi: 10.1160/TH15-06-0520. Epub 2015 Oct 8.
    • Gene-expression patterns in peripheral blood classify familial breast cancer susceptibility.
    • Piccolo SR, Andrulis IL, Cohen AL, Conner T, Moos PJ, Spira AE, Buys SS, Johnson WE, Bild AH.
    • BMC Med Genomics. 2015 Nov 4;8(1):72. doi: 10.1186/s12920-015-0145-6.
    • First description of a sporadic breast cancer in a woman with BRCA1 germline mutation.
    • Curtit E, Benhamo V, Gruel N, Popova T, Manie E, Cottu P, Mariani O, Stoppa-Lyonnet D, Pivot X, Stern MH, Vincent-Salomon A.
    • Oncotarget. 2015 Nov 3;6(34):35616-24. doi: 10.18632/oncotarget.5348.
    • BRCA mutation carriers show normal ovarian response in in vitro fertilization cycles.
    • Shapira M, Raanani H, Feldman B, Srebnik N, Dereck-Haim S, Manela D, Brenghausen M, Geva-Lerner L, Friedman E, Levi-Lahad E, Goldberg D, Perri T, Eldar-Geva T, Meirow D.
    • Fertil Steril. 2015 Nov;104(5):1162-7. doi: 10.1016/j.fertnstert.2015.07.1162. Epub 2015 Aug 31.
    • Frequency of diagnosis of cancer or high-risk lesion at operation for pathologic nipple discharge.
    • Dupont SC, Boughey JC, Jimenez RE, Hoskin TL, Hieken TJ.
    • Surgery. 2015 Oct;158(4):988-95. doi: 10.1016/j.surg.2015.05.020. Epub 2015 Aug 1.
    • Functional isogenic modeling of BRCA1 alleles reveals distinct carrier phenotypes.
    • Cochran RL, Cidado J, Kim M, Zabransky DJ, Croessmann S, Chu D, Wong HY, Beaver JA, Cravero K, Erlanger B, Parsons H, Heaphy CM, Meeker AK, Lauring J, Park BH.
    • Oncotarget. 2015 Sep 22;6(28):25240-51. doi: 10.18632/oncotarget.4595.
    • Prospective multicenter cohort study of estrogen and insulin-like growth factor system in BRCA mutation carriers.
    • Kim J, Johnson L, Skrzynia C, Buchanan A, Gracia C, Mersereau JE.
    • Cancer Causes Control. 2015 Aug;26(8):1087-92. doi: 10.1007/s10552-015-0601-9. Epub 2015 May 26.
    • Weight Change in Breast Cancer Survivors Compared to Cancer-Free Women: A Prospective Study in Women at Familial Risk of Breast Cancer.
    • Gross AL, May BJ, Axilbund JE, Armstrong DK, Roden RB, Visvanathan K.
    • Cancer Epidemiol Biomarkers Prev. 2015 Aug;24(8):1262-9. doi: 10.1158/1055-9965.EPI-15-0212. Epub 2015 Jul 15.
    • DNA repair capacity is impaired in healthy BRCA1 heterozygous mutation carriers.
    • Vaclová T, Gómez-López G, Setién F, Bueno JM, Macías JA, Barroso A, Urioste M, Esteller M, Benítez J, Osorio A.
    • Breast Cancer Res Treat. 2015 Jul;152(2):271-82. doi: 10.1007/s10549-015-3459-3. Epub 2015 Jun 14.
    • BRCA Mutations Increase Fertility in Families at Hereditary Breast/Ovarian Cancer Risk.
    • Kwiatkowski F, Arbre M, Bidet Y, Laquet C, Uhrhammer N, Bignon YJ.
    • PLoS One. 2015 Jun 5;10(6):e0127363. doi: 10.1371/journal.pone.0127363. eCollection 2015.
    • Effects of Radiation Therapy on Breast Epithelial Cells in BRCA1/2 Mutation Carriers.
    • Chiang HC, Elledge R, Larson P, Jatoi I, Li R, Hu Y.
    • Breast Cancer (Auckl). 2015 Jun 2;9:25-9. doi: 10.4137/BCBCR.S26774. eCollection 2015.
    • Hypodontia phenotype in patients with epithelial ovarian cancer.
    • Fekonja A, Cretnik A, Zerdoner D, Takac I.
    • Radiol Oncol. 2015 Mar 3;49(1):65-70. doi: 10.2478/raon-2014-0034. eCollection 2015.
    • 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.
    • Drooger JC, Hooning MJ, Seynaeve CM, Baaijens MH, Obdeijn IM, Sleijfer S, Jager A.
    • Cancer Treat Rev. 2015 Feb;41(2):187-196. doi: 10.1016/j.ctrv.2014.12.002. Epub 2014 Dec 8.
    • Review
    • BRCA1 alterations are associated with endometriosis, but BRCA2 alterations show no detectable endometriosis risk: a study in Indian population.
    • Govatati S, Challa K, Reddy SB, Pramod K, Deenadayal M, Chakravarty B, Shivaji S, Bhanoori M.
    • J Assist Reprod Genet. 2015 Feb;32(2):277-85. doi: 10.1007/s10815-014-0379-9. Epub 2014 Nov 8.
    • Sister chromatid exchange: A possible approach to characterize familial breast cancer patients.
    • De Pascalis I, Pilato B, Mazzotta A, Dell'Endice TS, Rubini V, Simone G, Paradiso A, Aiello V, Mangia A.
    • Oncol Rep. 2015 Feb;33(2):930-4. doi: 10.3892/or.2014.3628. Epub 2014 Nov 26.
    • Impact of chemotherapy on telomere length in sporadic and familial breast cancer patients.
    • Benitez-Buelga C, Sanchez-Barroso L, Gallardo M, Apellániz-Ruiz M, Inglada-Pérez L, Yanowski K, Carrillo J, Garcia-Estevez L, Calvo I, Perona R, Urioste M, Osorio A, Blasco MA, Rodriguez-Antona C, Benitez J.
    • Breast Cancer Res Treat. 2015 Jan;149(2):385-94. doi: 10.1007/s10549-014-3246-6. Epub 2014 Dec 21.
    • [Breast and ovarian cancer due to BRCA1&2 hereditary cancer predisposition syndrome and reproduction: Literature review.]
    • Jégu M, Der AS, Morcel K, Abadie C, Fritel X, Levêque J.
    • J Gynecol Obstet Biol Reprod (Paris). 2015 Jan;44(1):10-17. doi: 10.1016/j.jgyn.2014.10.011. Epub 2014 Nov 18.
    • Review, [Article in French]
    • Consanguinity Protecting Effect Against Breast Cancer among Tunisian Women: Analysis of BRCA1 Haplotypes.
    • Medimegh I, Troudi W, Omrane I, Ayari H, Uhrhummer N, Majoul H, Benayed F, Mezlini A, Bignon YJ, Sibille C, Elgaaied AB.
    • Asian Pac J Cancer Prev. 2015;16(9):4051-5.
    • The risk factors of toxicity during chemotherapy and radiotherapy in breast cancer patients according to the presence of BRCA gene mutation.
    • Huszno J, Budryk M, Kołosza Z, Nowara E.
    • Contemp Oncol (Pozn). 2015;19(1):72-6. doi: 10.5114/wo.2015.50014. Epub 2015 Mar 26.
    • The curious case of a woman with two BRCA1 mutations in trans.
    • Rodney J Scott, Michelle Wong-Brown, Mary McPhillips, Susan Dooley, Allan Spigelman, Margaret Gleeson, Cliff Meldrum.
    • 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
    • Conference Abstract
    • Breast cancer in female survivors of Wilms tumor: A report from the National Wilms Tumor late effects study.
    • Lange JM, Takashima JR, Peterson SM, Kalapurakal JA, Green DM, Breslow NE.
    • Cancer. 2014 Dec 1;120(23):3722-3730. doi: 10.1002/cncr.28908. Epub 2014 Oct 27.

    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.
    • Genet Res (Camb). 2014 Oct 8;96:e11. doi: 10.1017/S0016672314000147.
    • Retraction: Relation between HPV genotypes and BRCA mutation in familial breast cancer.
    • Rassi H, Mohammadian T, Salmanpor S, Gholami Roudmajani E.
    • J Microbiol Biotechnol. 2014 Oct 8. doi: 10.4014/jmb.1407.07011. [Epub ahead of print]
    • BRCA1/2 mutation carriers are potentially at higher cardiovascular risk.
    • Arts-de Jong M, Maas AH, Massuger LF, Hoogerbrugge N, de Hullu JA.
    • Crit Rev Oncol Hematol. 2014 Aug;91(2):159-71. doi: 10.1016/j.critrevonc.2014.01.008. Epub 2014 Jan 24.
    • Lymphocyte Telomere Length Is Long in BRCA1 and BRCA2 Mutation Carriers Regardless of Cancer-Affected Status.
    • Pooley KA, McGuffog L, Barrowdale D, Frost D, Ellis SD, Fineberg E, Platte R, Izatt L, Adlard J, Bardwell J, Brewer C, Cole T, Cook J, Davidson R, Donaldson A, Dorkins H, Douglas F, Eason J, Houghton C, Kennedy MJ, McCann E, Miedzybrodzka Z, Murray A, Porteous ME, Rogers MT, Side LE, Tischkowitz M, Walker L, Hodgson S, Eccles DM, Morrison PJ, Evans DG, Eeles RA, Antoniou AC, Easton DF, Dunning AM; EMBRACE;.
    • 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.
    • Alanazi M, Reddy NP, Shaik JP, Ajaj SA, Jafari AA, Saeed H, Khan Z, Khan AP.
    • Genet Mol Res. 2014 May 16;13(2):3876-84. doi: 10.4238/2014.May.16.13.
    • Age-Related Decline in DNA Repair Function Explains Diminished Ovarian Reserve, Earlier Menopause, and Possible Oocyte Vulnerability to Chemotherapy in Women With BRCA Mutations.
    • Oktay K, Moy F, Titus S, Stobezki R, Turan V, Dickler M, Goswami S.
    • 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?
    • Bonds J, Pollan-White S, Xiang L, Mues G, D'Souza R.
    • Eur J Med Genet. 2014 Apr;57(5):235-9. doi: 10.1016/j.ejmg.2014.02.013. Epub 2014 Mar 12.
    • Surgically treated ovarian endometriosis association with BRCA1 and BRCA2 mutations.
    • Aviel-Ronen S, Soriano D, Shmuel E, Schonman R, Rosenblatt K, Zadok O, Vituri A, Seidman D, Barshack I, Cohen Y.
    • Pathol Res Pract. 2014 Apr;210(4):250-5. doi: 10.1016/j.prp.2013.12.011. Epub 2014 Jan 10.
    • Male Breast Cancer and Hyperestrogenemia: A Thirteen-Year Review.
    • Tariq KB, Al-Saffar F, Ibrahim S, Pham D, Farhangi A, Rana F, Zaiden R.
    • World J Oncol. 2014 Apr;5(2):55-61. doi: 10.14740/wjon803w. Epub 2014 May 6.
    • Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) due to silicone implant incompatibility syndrome in three sisters.
    • Kappel RM, Cohen Tervaert JW, Pruijn GJ.
    • Clin Exp Rheumatol. 2014 Mar-Apr;32(2):256-8. Epub 2014 Apr 9.
    • Case report
    • Preliminary monocentric results of biological characteristics of pregnancy associated breast cancer.
    • Michieletto S, Saibene T, Evangelista L, Barbazza F, Grigoletto R, Rossi G, Ghiotto C, Bozza F.
    • Breast. 2014 Feb;23(1):19-25. doi: 10.1016/j.breast.2013.10.001. Epub 2013 Nov 1.
    • Genomic analysis of primordial dwarfism reveals novel disease genes.
    • Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, Alomar R, Sogaty S, Alkuraya FS.
    • Genome Res. 2014 Feb;24(2):291-9. doi: 10.1101/gr.160572.113. Epub 2014 Jan 3.
    • Establishing the origin of metastatic deposits in the setting of multiple primary malignancies: the role of massively parallel sequencing.
    • De Mattos-Arruda L, Bidard FC, Won HH, Cortes J, Ng CK, Peg V, Nuciforo P, Jungbluth AA, Weigelt B, Berger MF, Seoane J, Reis-Filho JS.
    • Mol Oncol. 2014 Feb;8(1):150-8. doi: 10.1016/j.molonc.2013.10.006. Epub 2013 Oct 31.
    • Telomere Length Shows No Association with BRCA1 and BRCA2 Mutation Status.
    • Killick E, Tymrakiewicz M, Cieza-Borrella C, Smith P, Thompson DJ, Pooley KA, Easton DF, Bancroft E, Page E, Leongamornlert D; IMPACT collaborators, Kote-Jarai Z, Eeles RA.
    • PLoS One. 2014 Jan 29;9(1):e86659. doi: 10.1371/journal.pone.0086659. eCollection 2014.
    • A Two-Stage Association Study Suggests BRAP as a Susceptibility Gene for Schizophrenia.
    • Zhang F, Liu C, Xu Y, Qi G, Yuan G, Cheng Z, Wang J, Wang G, Wang Z, Zhu W, Zhou Z, Zhao X, Tian L, Jin C, Yuan J, Zhang G, Chen Y, Wang L, Lu T, Yan H, Ruan Y, Yue W, Zhang D.
    • PLoS One. 2014 Jan 15;9(1):e86037. doi: 10.1371/journal.pone.0086037. eCollection 2014.
    • Lobulitis in nonneoplastic breast tissue from breast cancer patients: association with phenotypes that are common in hereditary breast cancer.
    • Gulbahce HE, Vanderwerf S, Blair C, Sweeney C.
    • Hum Pathol. 2014 Jan;45(1):78-84. doi: 10.1016/j.humpath.2013.08.008. Epub 2013 Oct 21.
    • Acute skin toxicity in Korean breast cancer patients carrying BRCA mutations.
    • Park H, Choi DH, Noh JM, Huh SJ, Park W, Nam SJ, Lee JE.
    • Int J Radiat Biol. 2014 Jan;90(1):90-4. doi: 10.3109/09553002.2013.835504. Epub 2013 Sep 19.
    • Explaining variance in the cumulus mammographic measures that predict breast cancer risk: a twins and sisters study.
    • Nguyen TL, Schmidt DF, Makalic E, Dite GS, Stone J, Apicella C, Bui M, Macinnis RJ, Odefrey F, Cawson JN, Treloar SA, Southey MC, Giles GG, Hopper JL.
    • Cancer Epidemiol Biomarkers Prev. 2013 Dec;22(12):2395-403. doi: 10.1158/1055-9965.EPI-13-0481. Epub 2013 Oct 15.
    • MicroRNA-based molecular classification of non-BRCA1/2 hereditary breast tumours.
    • Tanic M, Andrés E, M Rodriguez-Pinilla S, Marquez-Rodas I, Cebollero-Presmanes M, Fernandez V, Osorio A, Benítez J, Martinez-Delgado B.
    • Br J Cancer. 2013 Nov 12;109(10):2724-34. doi: 10.1038/bjc.2013.612. Epub 2013 Oct 8.
    • Women with familial risk for breast cancer have an increased frequency of aldehyde dehydrogenase expressing cells in breast ductules.
    • Isfoss BL, Holmqvist B, Jernström H, Alm P, Olsson H.
    • 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.
    • Valentini A, Finch A, Lubinski J, Byrski T, Ghadirian P, Kim-Sing C, Lynch HT, Ainsworth PJ, Neuhausen SL, Greenblatt E, Singer C, Sun P, Narod SA.
    • J Clin Oncol. 2013 Nov 1;31(31):3914-9. doi: 10.1200/JCO.2012.47.7893. Epub 2013 Aug 26.

    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.
    • Widschwendter M, Rosenthal AN, Philpott S, Rizzuto I, Fraser L, Hayward J, Intermaggio MP, Edlund CK, Ramus SJ, Gayther SA, Dubeau L, Fourkala EO, Zaikin A, Menon U, Jacobs IJ.
    • 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)

    • Aromatase inhibitor-induced modulation of breast density: clinical and genetic effects.
    • Henry NL, Chan HP, Dantzer J, Goswami CP, Li L, Skaar TC, Rae JM, Desta Z, Khouri N, Pinsky R, Oesterreich S, Zhou C, Hadjiiski L, Philips S, Robarge J, Nguyen AT, Storniolo AM, Flockhart DA, Hayes DF, Helvie MA, Stearns V.
    • 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.