Article
Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families.
Journal of human genetics - 1 Jan 2008
Guénard Frédéric, Labrie Yvan, Ouellette Geneviève, Joly Beauparlant Charles, Simard Jacques, Durocher Francine
Abstract excerpt
The BRIP1 gene encodes a helicase interacting with BRCA1, which contributes to BRCA1-associated DNA repair function. Germ-line BRIP1 mutations affecting the helicase domain activity have been identified in early onset breast cancer patients. In addition, BRIP1 was recently identified as deficient in Fanconi anemia (FA) complementation group J. Given the growing evidence now linking BRCA1, BRCA2, and the FA...
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