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Breast and Ovarian Cancer and Genetic Testing

BRCA1 and BRCA2 (BRCA1/2) are genes that normally protect people from getting certain cancers. Women who inherit a mutation (mistake) in the BRCA1 or BRCA2 gene have a greatly increased risk to develop breast and/or ovarian cancer. Important steps can be taken to help lower the risk for cancer in these women. BRCA1/2 mutations are more likely to be present in families with a strong history of breast and/or ovarian cancer. Because mutations in BRCA1 or BRCA2 can be passed down from one generation to the next, they are said to cause hereditary breast and ovarian cancer or HBOC.

Genetic testing is available to determine if a woman has inherited a BRCA1 or BRCA2 mutation. However, because most breast and ovarian cancer is not caused by mutations in these genes, BRCA1/2 genetic testing will only be helpful for a small number of women.

The United States Preventive Services Task Force (USPSTF) recommends that primary care providers use family health history information to identify women that may have an increased risk for harmful mutations in the BRCA1 or BRCA2 genes. Women at increased risk based on family health history could benefit from genetic counseling and evaluation for BRCA genetic testing. Access the USPSTF recommendations and clinical considerations [PDF 195.88 KB].

To learn whether your family might be at increased risk for harmful BRCA mutations, collect the following information about both your mother’s and father’s sides of the family and share it with your health care provider.

  • Number of close relatives with breast or ovarian cancer: mother, sister(s), daughter(s), aunt(s), niece(s), and granddaughter(s).
  • Ages when the cancers were diagnosed.
  • Whether anyone had cancer of both breasts (bilateral).
  • Whether anyone had both breast and ovarian cancer.
  • Presence of breast cancer in a male relative.
  • Ashkenazi (Eastern European) Jewish ancestry.

    Note: Update your family history on a regular basis and notify your doctor if additional cases of breast or ovarian cancer occur.

Important Information to Consider

  • Most women identified as at increased risk for BRCA1/2 mutations based on family health history will not have BRCA1/2 mutations.
  • Some women who do have BRCA1/2 mutations will not be identified as at increased risk based on family health history information.
  • Whenever possible, BRCA1/2 genetic testing in the family should start with a person who has already had breast or ovarian cancer.
  • Because BRCA1/2 genetic testing is complex, the USPSTF recommends women be referred to a genetic counselor or other suitably trained health care provider to carefully evaluate their family history and discuss the benefits and limitations of testing.

Learn more about the types of family history risk categories for which genetic counseling may be appropriate and about genetic counseling and evaluation for BRCA1/2 testing.

Read quick facts about Breast and Ovarian Cancer and BRCA1/2 Genes.

Keep reading to understand your risks for breast and ovarian cancer and whether genetic testing might be right for you:

The CDC Office of Public Health Genomics makes available the above information as a public service only. Providing this information does not constitute endorsement by the CDC. Note that some links may become invalid over time.  Top of Page