Article
Missense mutations of BRCA1 gene affect the binding with p53 both in vitro and in vivo.
Oncology reports - 1 Oct 2006
Quaresima Barbara, Faniello Maria C, Baudi Francesco, Crugliano Telma, Di Sanzo Maddalena, Cuda Giovanni, Costanzo Francesco, Venuta Salvatore
Abstract excerpt
Women with BRCA1 gene mutations have an increased risk for breast and ovarian cancer (BOC). Classification of missense variants as neutral or disease causing is still a challenge and has major implications for genetic counseling. BRCA1 is organized in an N-terminal ring-finger domain and two BRCT (breast cancer C-terminus) domains, involved in protein-protein interaction. The integrity of the C-terminal, BRCT...
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