Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. Issue 7 (1st July 2005)

• Record Type: Journal Article
• Authors: Antoniou, A C; Pharoah, P D P; Narod, S; Risch, H A; Eyfjord, J E; Hopper, J L; Olsson, H; Johannsson, O; Borg, Å; Pasini, B; Radice, P; Manoukian, S; Eccles, D M; Tang, N; Olah, E; Anton-Culver, H; Warner, E; Lubinski, J; Gronwald, J; Gorski, B; Tulinius, H; Thorlacius, S; Eerola, H; Nevanlinna, H; Syrjäkoski, K; Kallioniemi, O-P; Thompson, D; Evans, C; Peto, J; Lalloo, F; Evans, D G; Easton, D F;
• Is Part Of: Journal of medical genetics. Volume 42:Issue 7(2005)
• Page Start: 602
• Page End: 603
• Publication Date: 2005-07-01
• Subjects: BRCA1/2 penetrance -- meta-analysis -- founder mutation -- Ashkenazi; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.2004.024133
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : A recent report estimated the breast cancer risks in carriers of the three Ashkenazi founder mutations to be higher than previously published estimates derived from population based studies. In an attempt to confirm this, the breast and ovarian cancer risks associated with the three Ashkenazi founder mutations were estimated using families included in a previous meta-analysis of populatrion based studies. The estimated breast cancer risks for each of the founder BRCA1 and BRCA2 mutations were similar to the corresponding estimates based on all BRCA1 or BRCA2 mutations in the meta-analysis. These estimates appear to be consistent with the observed prevalence of the mutations in the Ashkenazi Jewish population.