How do I know if a BRCA1 or BRCA2 mutation may run in my family?

David A. Fishman, MD
Gynecologic Oncology
Breast cancer gene 1 (BRCA1) and breast cancer gene 2 (BRCA2) are normal genes carried by all men and women. When functioning properly, these genes play a role in tumor suppression. Clues suggesting that a BRCA1 or BRCA2 mutation may be running in a family include: early-onset breast cancer (before menopause) in two or more relatives in different generations, ovarian cancer in addition to breast cancer among relatives, bilateral breast cancer, breast and ovarian cancer in the same woman, and male relatives with breast cancer.

Most families with very strong family histories of breast and ovarian cancer have mutations in the BRCA1 and BRCA2 genes. However, in some high-risk families and many families with more moderate clusters of breast and ovarian cancer, such cancers are not due to BRCA1 or BRCA2, suggesting the existence of other inherited susceptibility genes yet to be identified.

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