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The information on this page was reviewed and approved by
Maurie Markman, MD, President, Medicine & Science at CTCA.

This page was updated on November 4, 2020.


What are BRCA1 and BRCA2?

The BRCA1 and BRCA2 genes produce tumor suppressor proteins, which work to repair damaged DNA. Although both genes essentially perform the same function, they work at different stages in DNA repair. When the BRCA1 and BRCA2 genes undergo a harmful mutation, they may no longer be able to repair DNA damage properly and may even stimulate more harmful mutations that in some cases lead to cancer and other diseases.

These mutations to the BRCA1 and BRCA2 genes are inherited, either from a person's mother or father, and they're linked to an increased risk for several types of cancermost notably, female breast and ovarian cancer. According to the National Cancer Institute, increased risk for these diseases is outlined below:

Breast cancer

  • An estimated 12 percent of women in the general population will develop breast cancer at some point in their lives.
  • An estimated 72 percent of women who inherit a harmful BRCA1 mutation and 69 percent of women who inherit a harmful BRCA2 mutation will develop the disease by age 80.

Ovarian cancer

  • An estimated 44 percent of women who inherit a harmful BRCA1 mutation and 17 percent of women who inherit a harmful BRCA2 mutation will develop the disease by age 80.

Does ethnicity affect risk for harmful BRCA1 and BRCA2 mutations?

Certain ethnic populations have a higher prevalence of harmful BRCA1 and BRCA2 mutations than others. In the United States, for example, people of Ashkenazi Jewish descent have a markedly higher incidence of these mutations than the rest of the population.

Who should be tested for BRCA1 and BRCA2 mutations?

The United States Preventive Services Task Force recommends that women with a family history of breast, ovarian, fallopian tube or peritoneal cancer undergo testing. Factors that may increase the risk of these mutations include:

  • A personal or famliy history of breast or ovarian cancer
  • A breast cancer diagnosis before the age of 50
  • Ashkenazi Jewish ethnicity

Genetic tests are available to look for known harmful mutations in the BRCA1 and BRCA2 genes. A positive result on these tests indicates a known harmful mutation was found on one of these genes. A negative result means no known harmful mutations were found, although it is possible for one to go undetected. A negative result may also mean the person has a mutation that hasn't been identified yet.

How can you manage cancer risk if you have a BRCA1 or BRCA2 mutation?

More frequent screenings starting at younger ages are the first steps to managing cancer risk when a harmful BRCA1 or BRCA2 mutation is identified. Other forms of management may include:

  • Prophylactic surgery, which removes as much of the "at-risk" tissue as possible
  • Chemoprevention, which uses certain drugs to try to reduce the risk of cancer development