BRCA1 and BRCA2 are human genes that produce proteins that help repair damaged DNA. They are normally expressed in the cells of breast and other tissue, where they help repair damaged DNA or destroy cells if DNA cannot be repaired. If BRCA1 or BRCA2 itself is damaged by a BRCA mutation, damaged DNA is not repaired properly, and this increases the risk for breast cancer. BRCA1 and BRCA2 have been described as "breast cancer susceptibility genes" and "breast cancer susceptibility proteins".
Here are some key points about BRCA1 and BRCA2:
- Everyone has two copies of the BRCA1 and BRCA2 genes, one copy inherited from their mother and one from their father.
- Harmful variants in BRCA1 and BRCA2 increase the risk of several additional cancers, including fallopian tube cancer, primary peritoneal cancer, breast cancer, and prostate cancer.
- Women with BRCA1 or BRCA2 mutations have an increased risk of breast cancer.
- BRCA1/2 gene mutations are thought to explain a large portion of hereditary breast cancers.
- Women who have a BRCA1/2 inherited gene mutation may be called a BRCA1/2 carrier.
- Several options are available for reducing cancer risk in individuals who have inherited a harmful BRCA1 or BRCA2 variant, including enhanced screening, risk-reducing surgery, and chemoprevention.
- Family members who inherit BRCA1 and BRCA2 mutations usually share the same mutation.
It is important to note that not everyone who inherits a BRCA1 or BRCA2 mutation will get breast or ovarian cancer. However, if you are concerned that you could have a BRCA1, BRCA2, or other mutation related to breast and ovarian cancer, the first step is to collect your family health history and discuss it with your healthcare provider.