Article
Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families.
American journal of human genetics - 1 Dec 1995
Friedman L S, Szabo C I, Ostermeyer E A, Dowd P, Butler L, Park T, Lee M K, Goode E L, Rowell S E, King M C
Abstract excerpt
Thirty-seven families with four or more cases of breast cancer or breast and ovarian cancer were analyzed for mutations in BRCA1. Twelve different germ-line mutations, four novel and eight previously observed, were detected in 16 families. Five families of Ashkenazi Jewish descent carried the 185delAG mutation and shared the same haplotype at eight polymorphic markers spanning approximately 850 kb at BRCA1....
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