BRCA2 Gene Mutation

BRCA2 Gene Mutation

The BRCA2 mutation is a genetic change that significantly elevates the risk of breast and ovarian cancer. Among Ethiopian Israelis in Israel, a specific mutation (BRCA2 c.156_157insAlu) has been identified at a carrier rate of 1.8% — elevated relative to the general population. Carriers are not ill, but they benefit from dedicated medical surveillance.

Important news: Starting September 2025, BRCA2 testing for members of the Ethiopian-Israeli community has entered the Israeli national health basket. This means the test is available and subsidized through all health plans, without requiring a special referral. This is a significant achievement resulting from advocacy by community organizations.

Mutation carriers are advised to: undergo annual surveillance with mammography and MRI (for women); receive genetic counseling for family members; and in some cases, consider preventive interventions (such as prophylactic surgery). All of these are discussed with specialist geneticists and oncologists, accessible via referral from a family doctor.

Early diagnosis saves lives. The survival rate for breast cancer diagnosed at Stage 1 is 98% — compared with 28% at Stage 4. A simple blood test can completely change the outcome.