Article
Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.
Human molecular genetics - 15 Feb 2006
Morris Joanna R, Pangon Laurent, Boutell Chris, Katagiri Toyomasa, Keep Nicholas H, Solomon Ellen
Abstract excerpt
The N-terminus of the Breast Cancer-1 predisposition protein (BRCA1) associates with the BRCA1-associated RING domain-1 protein (BARD1) to form a heterodimer, which exhibits ubiquitin ligase activity that is abrogated by known cancer-associated BRCA1 missense mutations. The majority of missense substitutions identified in patients with a personal or a family history of disease have not been followed in pedigrees,...
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