BRCA1 and BRCA2 genes are the most well-known genes associated with breast cancer, but other genes have been identified as well.
Depending on an individual’s personal and family history, multigene panel genetic testing may be used to evaluate other breast cancer–associated genes.
Known Genetic Mutations for Increased Breast Cancer Risk:
- BRCA1 and BRCA2
- TP53 (associated with Li-Fraumeni syndrome)
- PTEN (associated with Cowden syndrome)
- CDH1 (associated with hereditary diffuse gastric cancer syndrome)
New research findings may discover other breast cancer–associated genes.
We recommend that people who have these mutations talk to a genetic counselor or doctor experienced in the care of people with hereditary cancer genetic mutations to discuss recommendations for managing the risk associated with these mutations.
Learn about making a Genetic Counseling and Genetic Testing Appointment for Hereditary Cancer at MSK.