What are BRCA1 and BRCA2 genes?

David A. Fishman, MD
Gynecologic Oncology
Research on families with very strong patterns of breast and ovarian cancer led to the discovery of breast cancer gene 1 (BRCA1) on chromosome 17 and breast cancer gene 2 (BRCA2) on chromosome 13. BRCA1 and BRCA2 are normal genes carried by all men and women. When functioning properly, these genes play a role in tumor suppression through cell cycle regulation and deoxyribonucleic acid (DNA) damage repair. Research continues in order to learn more about the precise role of BRCA1 and BRCA2 within the cell. 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.
BRCA1 and BRCA2 stand for breast cancer 1 and breast cancer 2. The BRCA1 and BRCA2 genes are present in all individuals. Everyone has two copies of each of these genes -- one from each parent.

A gene mutation is like a spelling error in the genetic code of a gene. Those who have a gene mutation in either the BRCA1 or BRCA 2 gene are at higher than average risk for developing certain cancers.

The BRCA1 and BRCA2 genes are responsible for the repair of certain types of DNA errors that may occur each time a human cell makes a copy of itself. Without a gene mutation, functional BRCA1 and BRCA2 genes help ensure the stability of cell's genetic material, or DNA, and help prevent uncontrolled cell growth.

Having an inherited gene mutation in BRCA1 or BRCA2 does not mean a person is guaranteed to develop cancer, but the chances are significantly higher than for someone who does not have a gene mutation.

Women and men who choose to learn if they have a gene mutation may make other health care decisions based on that knowledge. For example, someone with a BRCA1 or BRCA2 mutation may choose specialized follow-up care that may dramatically increase their chances for good health.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.