Article
Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families.
Human mutation - 1 Mar 2010
De Brakeleer Sylvia, De Grève Jacques, Loris Remy, Janin Nicolas, Lissens Willy, Sermijn Erica, Teugels Erik
Abstract excerpt
Fifteen years ago BRCA1 and BRCA2 were reported as high penetrant breast cancer predisposing genes. However, mutations in these genes are found in only a fraction of high risk families. BARD1 is a candidate breast cancer gene, but only a limited number of missense mutations with rather unclear pathogenic consequences have been reported.We screened 196 high risk breast cancer families for the occurrence of BARD1...
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