Cancer risk associated with inherited BRCA1 mutations
If you have tested positive for a BRCA1 mutation, we recommend that you consult with a genetics expert who can assess your personal and family history of cancer, and help you determine the best risk management plan.
Research on lifetime cancer risk for people with BRCA1 mutations has varied. The following risks are estimates based on review of different large studies. The average age of a cancer diagnosis is younger in people with a BRCA1 mutation than people who do not have a mutation.
Risks in women
- Breast cancer: The lifetime risk with a BRCA1 mutation is about 65 percent, compared with 12.5 percent for a woman of average risk.
- Ovarian cancer: The lifetime risk with a BRCA1 mutation is about 40-60 percent, compared with 1.3 percent for a woman of average risk.
- Second breast cancer in women who have already been diagnosed with breast cancer: The lifetime risk is about 40 percent.
- Uterine cancer: There is a small increased risk for a rare form of aggressive uterine cancer, the estimated risk to age 70 is up to 5 percent.
Risks in men
- Prostate cancer: The lifetime risk for a man with a BRCA1 mutation is about 20-30 percent, compared with 12 percent for a man of average risk. Prostate cancer in men with an inherited BRCA1 mutation may be more aggressive than in men without an inherited mutation.
- Male breast cancer: The lifetime risk with a BRCA1 mutation is about 2 percent.
Risks in both men and women
- Pancreatic cancer: The lifetime risk for a person with a BRCA1 mutation is about 5 percent compared with 1 percent for a person of average risk.
- Research on how mutations in the BRCA1 gene affect cancer risk is ongoing. Some research suggests that BRCA1 mutations may increase risk for melanoma. However, because these studies are not conclusive, genetics experts often look at a person’s family history of cancer to help people with BRCA1 mutations understand their risk for additional cancers.
The following studies are looking at cancer risks in people with a BRCA1 mutation.
- NCT00579488: Clinical Significance of Germline BRCA Mutations. The goal of this study is to help us learn more about the roles of genes and cancers that run in families.
- Identification and Analysis of Families With Genetic Susceptibility To Cancer Registry. The research laboratory at the Abramson Cancer Center is studying genetic sources of cancer risk. A number of research projects are performed in collaboration with this registry.