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- W2161330222 abstract "Deleterious mutations in the BRCA1 and BRCA2 genes account for the majority of families with an inherited predisposition to breast and ovarian cancer, driving the age of onset and the probability of developing the disease [ 1 Miki Y Swensen J Shattuck-Eidens D Futreal P.A Harshman K Tavtigian S Liu Q Cochran C Bennett L.M Ding W Bell R Rosenthal J Hussey C Tran T McClure M Frye C Hattier T Phelps R Haugen-Strano A Katcher H Yakumo K Gholami Z Shaffer D Stone S Bayer S Wray C Bogden R Dayananth P Ward J Tonin P Narod S Bristow P.K Norris F.H Helvering L Morrison P Rosteck P Lai M Barrett Lewis C Neuhausen S Cannon-Albright L Goldgar D Wiseman R Kamb A Skolnick M.H A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994; 266: 66-71 Crossref PubMed Scopus (5211) Google Scholar , 2 Hall J.M Lee M.K Newman B Morrow J.E Anderson L.A Huey B King M.C Linkage of early-onset familial breast cancer to chromosome 17q21. Science. 1990; 250: 1684-1689 Crossref PubMed Scopus (2015) Google Scholar , 3 Wooster R Neuhausen S.L Mangion J Quirk Y Ford D Collins N Nguyen K Seal S Tran T Averill D Fields P Marshall G Narod S Lenoir G.M Lynch H Feunteun J Devilee P Cornelisse C.J Menko F.H Daly P.A Ormiston W McManus R Pye C Lewis C.M Cannon-Albright L.A Peto J Ponder B Skolnick M.H Easton D.F Goldgar D.E Stratton M.R Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12–13. Science. 1994; 265: 2088-2090 Crossref PubMed Scopus (1591) Google Scholar , 4 Wooster R Bignell G Lancaster J Swift S Seal S Mangion J Collins N Gregory S Gumbs C Micklem G Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995; 378: 789-792 Crossref PubMed Scopus (2895) Google Scholar ]. Mutation carriers have an estimated lifetime risk of breast cancer between 60% and 85%, and a lifetime risk of ovarian cancer between 15% and 40% [ 5 Thompson D Easton D.F Cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst. 2002; 94: 1358-1365 Crossref PubMed Scopus (897) Google Scholar , 6 Brose M.S Rebbeck T.R Calzone K.A Stopfer J.E Nathanson K.L Weber B.L Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst. 2002; 94: 1365-1372 Crossref PubMed Google Scholar ]. The identification of mutations in these genes also has led to major changes in the clinical management of affected individuals [ [7] Domchek S.M Eisen A Calzone K Stopfer J Blackwood A Weber B.L Application of breast cancer risk prediction models in clinical practice. J Clin Oncol. 2003; 21: 593-601 Crossref PubMed Scopus (148) Google Scholar ]." @default.
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- W2161330222 date "2004-04-01" @default.
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- W2161330222 title "BRCA1 IVS2-2delA: a deleterious mutation in a family of Asian descent" @default.
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- W2161330222 doi "https://doi.org/10.1016/j.cancergencyto.2003.08.024" @default.
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