BRCA1 and BRCA2 Gene Mutation Testing & Associated Cancers


The BRCA1 and BRCA2 genes are two of the most common genes known to be associated with an increased risk of cancer, most notably breast cancer and ovarian cancer. When working properly, BRCA1 and BRCA2 are tumor-suppressor genes that protect the body from developing certain cancers.

What cancers are associated with the BRCA1 and BRCA2 genetic mutations?

If a person inherits a mutation in one of their BRCA genes, they have an increased risk for the associated cancers. It is important to understand that having a BRCA1 or BRCA2 mutation does not mean that a person will develop cancer; it only means that they have an increased risk.

Women who have a BRCA1 or BRCA2 genetic mutation are at an increased risk of breast, ovarian, and pancreatic cancers.

Men who have a BRCA1 or BRCA2 genetic mutation are at an increased risk of prostate, pancreatic, and breast cancers.

The age at diagnosis and type of cancer can vary among people who have a BRCA1 or BRCA2 genetic mutation, even within the same family.

2022 BRCA Symposium Videos
Watch sessions from the 2022 BRCA Symposium.

What can a person do to manage their BRCA1- or BRCA2-associated cancer risk?

For women who have a BRCA1 or BRCA2 mutation:

  • To reduce the risk of breast cancer, we recommend frequent and specialized breast exams. Women may also consider risk-reducing bilateral mastectomy to address their risk.
  • To reduce the risk of ovarian cancer, we recommend that women remove their ovaries and fallopian tubes after family planning. This procedure is known as bilateral salpingo-oophorectomy.

For men who have a BRCA1 or BRCA2 mutation:

Depending on the family history of cancer, a genetic counselor may also discuss screening for pancreatic cancer done on a research basis.

Recommendations on the best way for you to manage your individual cancer risk should be discussed with a genetic counselor or doctor who is experienced in the care of people with BRCA1 or BRCA2 genetic mutations.

How are BRCA1 and BRCA2 genetic mutations passed down through a family?

BRCA1 and BRCA2 genetic mutations can be passed from a mother or father to a son or daughter.

People with a first-degree relative (a parent, sibling, or child) with a BRCA1 or BRCA2 mutation have a 50% chance of having inherited the mutation.

Mutations in the BRCA1 and BRCA2 genes have been found in people all over the world. However, some genetic mutations may be more common in certain ancestral groups. For example, three BRCA1 and BRCA2 genetic mutations are particularly common among Ashkenazi Jewish families. Ashkenazi Jewish families typically have origins in Eastern Europe. One in 40 Ashkenazi Jewish individuals carry one of these common BRCA mutations.

Through MSK’s RISE Program and CATCH Program, our experts help people who have an increased risk of cancer shape personalized long-term surveillance plans.