A second gene may predispose women to breast cancer

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Scientists have discovered yet another gene that may advance the mission of BRCA1, and even act on its own to help breast cancer develop. The Abraxas gene has become a candidate for yet unexplained susceptibility to breast cancer. Recent research has shown it to directly interact with BRCA1 and contribute to the DNA damage associated with BRCA1. In the study, 125 breast cancer families were screened for Abraxas mutations. One such mutation, R361Q, was found in breast cancer patients from three of the families, but not in any of the more than 800 healthy controls included in the analysis.


The researchers demonstrated that R361Q blocks BRCA1 and other proteins from effectively repairing damaged DNA in cells. The mutated Abraxas gene appears to increase susceptibility to breast cancer, even in the absence of BRCA mutations. The Abraxas mutation may also predispose people to other cancers.


On the basis of its exclusive occurrence in familial cancers, its disruption of critical BRCA1 functions, and other factors, the authors conclude that Abraxas mutations connect to cancer predisposition (Sci Transl Med. 4[122]:122ra23). Women with Abraxas mutations potentially could have chemotherapy or radiation treatment specifically designed to target DNA repair deficits in those mutated cells. ONA

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