Article
Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes.
Journal of medical genetics - 1 Nov 2011
Akbari Mohammad R, Zhang Shiyu, Fan Isabel, Royer Robert, Li Song, Risch Harvey, McLaughlin John, Rosen Barry, Sun Ping, Narod Steven A
Abstract excerpt
Women who carry a pathogenic mutation in BRCA1 or BRCA2 have high risks of developing breast and ovarian cancers. The functional effect of many missense variants on BRCA1 and BRCA2 protein function is not known. Here, the authors construct a historical cohort of 4030 female first-degree relatives of 1345 unselected patients with ovarian cancer who have been screened for BRCA1 and BRCA2 mutations. The authors...
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