Published on 24/02/2012
Scientists have identified a new gene mutation that may increase the risk of breast cancer.
The two well-known genes that increase the risk of breast cancer are the BRCA1 and BRCA2 genes. It has been known that BRCA genes do not act alone in causing breast cancer, and the newly discovered gene mutation in the Abraxas gene could be one of the contributors.
Abraxas organises 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.
Researchers in Finland screened the members of 125 families with a history of breast cancer, and found women with both the Abraxas mutation and breast cancer in four of them.
The mutation was not found in anyone without breast cancer in the study.
The mutated Abraxas gene may also increase the risk of other cancers. One patient was diagnosed with both breast and endometrial cancer.
Most patients with the mutation in the study had a type of breast cancer called lobular carcinoma, which is harder to detect on a mammogram. Knowing that a patient has the Abraxas mutation might mean doctors use additional screening methods, such as MRI.
"Identifying more of these mutations will make it easier for patients to know their risk of developing breast cancer," said Dr. Kristin Byrne, chief of breast imaging at Lenox Hill Hospital in New York City, who was not involved in the study.
© ActiveQuote Ltd. 2012Categories: Medical