Article
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families.
Human molecular genetics - 15 Feb 2001
Vallon-Christersson J, Cayanan C, Haraldsson K, Loman N, Bergthorsson J T, Brøndum-Nielsen K, Gerdes A M, Møller P, Kristoffersson U, Olsson H, Borg A, Monteiro A N
Abstract excerpt
Germline mutations in the breast and ovarian cancer susceptibility gene BRCA1 are responsible for the majority of cases involving hereditary breast and ovarian cancer. Whereas all truncating mutations are considered as functionally deleterious, most of the missense variants identified to date cannot be readily distinguished as either disease-associated mutations or benign polymorphisms. The C-terminal domain of...
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