Specific genetic variants in the immune system are significantly associated with an earlier onset of breast cancer in women who carry a BRCA1 gene mutation, according to a new study published in the journal Science Advances. The research suggests that inherited mutations in genes responsible for detecting and destroying abnormal cells can influence when cancer develops in high-risk individuals.
The study, led by researchers from the University of California, San Francisco, analyzed genetic data from over 1,100 women with BRCA1 mutations. They found that women who also carried certain variants in immune-related genes, particularly those involved in the body's natural killer (NK) cell response, developed breast cancer an average of five to seven years earlier than those without the variants.
BRCA1 mutations are known to confer a high lifetime risk of breast and ovarian cancer, with estimates for breast cancer risk ranging from 60% to 80%. This new finding highlights that an individual's genetic background beyond BRCA1 itself can modify this risk profile. The researchers emphasize this is an association, not a direct cause, and more work is needed to understand the biological mechanism.
The discovery could eventually help refine risk assessment and screening schedules for carriers of BRCA1 mutations, potentially allowing for more personalized prevention strategies. However, the authors note that clinical application is not yet imminent and that the findings require validation in larger, independent studies.
