Mayo research sorts if rare BRCA2 mutations increase breast cancer risk

Discovery establishes whether thousands of BRCA2 genetic variants are significant, giving patients peace of mind instead of uncertainty.

A mammogram scan on a computer screen at a hospital in Odessa, Texas, in 2021. A team of researchers led by Mayo Clinic has found that only 250 of 3,500 less-common mutations in the BRCA2 gene increase the risk of breast cancer. (Eli Hartman/Odessa American via AP)

Mayo Clinic researchers have made significant progress in addressing a long-standing issue in genetic cancer screening: understanding “variants of uncertain significance” in the BRCA2 gene. These variants often leave patients in limbo, with no clear indication of whether they are at increased cancer risk.

Leveraging advanced gene-editing technology, the Mayo team analyzed thousands of these genetic variations. Their findings, published in Nature, revealed that only 250 mutations in a specific region of the BRCA2 gene are pathogenic, meaning they elevate cancer risk, while 3,500 are benign. This breakthrough allows genetic testing labs to provide clearer guidance to patients whose tests identify these variants.

The research doesn’t impact already-known high-risk mutations but offers critical clarity for rarer ones, which could benefit thousands of patients. By identifying whether these variants are harmful or harmless, the findings empower individuals to make better-informed decisions about cancer prevention and care.

Although it remains unclear how quickly this information will filter into routine genetic testing, the potential to reduce patient anxiety and improve healthcare outcomes is substantial.

You can read the full article here.