In a new study in Science Translational Medicine, researchers at the University of Pennsylvania School of Medicine report their discovery of the association between the risk of hereditary breast cancer and mutations in a gene called Abraxas, says MyHealthNewsDaily's Rachael Rettner. The mutation is not common, occurring in about 2.4 percent of families with a history of breast cancer, Rettner says. But the researchers also report they did not find the mutation in anyone without breast cancer. "Because the study was conducted in Finland, future studies will need to investigate how common the mutation is in other countries," she adds. Study author Roger Greenberg tells Rettner that women with a family history of breast cancer may be tested for the Abraxas mutation in the future.
"Greenberg and colleagues found the Abraxas mutation in three of 125 breast cancer patients from families with a history of the condition. This gene had been suspected to play a role in breast cancer risk because it interacts with BRCA1," Rettner says. "The mutated Abraxas gene prevents cells from fixing damaged DNA, increasing the risk that a cell will become cancerous. The gene may increase the risk of other cancers as well. Indeed, one patient in the study was diagnosed with both breast and endometrial cancer, and some patients with the Abraxas mutation had family members with lung cancer, lip cancer and lymphoma."