Researchers Spot New Gene Mutation Linked to Breast Cancer

Study suggests Abraxas gene variant acts in concert with BRCA1 to raise disease risk

URL of this page: http://www.nlm.nih.gov/medlineplus/news/fullstory_122205.html (*this news item will not be available after 05/22/2012)

By Robert Preidt

Wednesday, February 22, 2012 HealthDay Logo

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WEDNESDAY, Feb. 22 (HealthDay News) -- Scientists have identified a new gene mutation linked to breast cancer.
The mutation is in the Abraxas gene, which interacts with the well-known breast cancer gene BRCA1. Abraxas organizes a large BRCA1 protein-containing complex that is needed to repair DNA damage.
The mutation affects the ability of the Abraxas protein to enter the nucleus and bind to sites adjacent to damaged DNA. This leads to genetic alterations that increase breast cancer risk, Roger Greenberg, an associate professor of cancer biology at the Perelman School of Medicine at the University of Pennsylvania, said in a university news release.
Greenberg and his colleagues screened the members of 125 families in Finland with a history of breast cancer, and found women with both the Abraxas mutation and breast cancer in four families.
The findings, published Feb. 22 in the journal Science Translational Medicine, appears to establish Abraxas as a breast cancer-susceptibility gene, according to the researchers.
It has been known that BRCA genes do not act alone in causing breast cancer, but it has proven difficult for scientists to identify other culprits. In time, this Abraxas mutation may be added to the list of 14 mutations for which women in families with a history of breast cancer can be tested, the researchers said.

SOURCES: University of Pennsylvania School of Medicine, news release, Feb. 22, 2012

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