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Genetic Counseling and Evaluation for BRCA1/2 Testing

Cancer Genetic Counseling

Genetic counseling by a suitably trained health care provider is important to help women make informed decisions about genetic testing. In a genetic counseling session for breast and ovarian cancer, the health care provider will typically collect a detailed family and medical history and discuss the following questions:

  • Do I have an increased risk for breast or ovarian cancer because of my family history?
  • What are the BRCA1/2 genes and how are they related to cancer?
  • What is the chance that I might have a BRCA1/2 mutation?
  • If I do have a BRCA1/2 mutation, what is the chance I will get breast or ovarian cancer?
  • Who in my family should be the first to have the BRCA1/2 genetic testing?
  • How accurate is genetic testing for BRCA1/2 mutations?
  • What are the possible results of the genetic testing and what do they mean?
  • What are the potential risks and limitations of BRCA1/2 genetic testing?
  • How will knowing if I carry a BRCA1/2 mutation help me to lower my risks for cancer?
  • How will the results of BRCA1/2 genetic testing affect my family members?

Following the genetic counseling session, a woman may decide she does not want BRCA1/2 testing, or she may learn that testing is not appropriate for her circumstances. For a woman who chooses to undergo BRCA1/2 testing, counseling can help her better understand the meaning of her test results. In addition, the careful evaluation of family history performed as part of a genetic consultation, may identify other, less common hereditary causes of cancer.

Medical Options

Several medical options are available for managing breast and ovarian cancer risk in women who have BRCA1/2 mutations. These options have risks and benefits and should be discussed with a health care provider knowledgeable about medical management for women with BRCA1/2 mutations.

The most effective option for preventing cancer from developing is undergoing surgery to remove the breasts and ovaries.

Other available options may reduce the chance of developing cancer, or improve the likelihood of detecting it earlier, but the effectiveness of these options is less certain.

  • Screening with breast magnetic resonance imaging (MRI) and/or mammogram, starting at a younger age and done more frequently
  • Screening for ovarian cancer with transvaginal ultrasound and CA125 blood tests
  • Taking medications to lower the chance of developing breast or ovarian cancer
  • Lifestyle modifications

Importance to family

BRCA1/2 test results can provide important information for family members.

  • For families where a person is found to have a BRCA1/2 mutation—
    • On average, half (50%) of this person’s first-degree relatives will also have the mutation.
    • Family members who do have the mutation may benefit from the medical options discussed above.
    • Family members who do not have the mutation can benefit from learning they are not at higher risk than the average person for breast and/or ovarian cancer. They also cannot pass the mutation on to their children.
  • For families with a strong history of breast and/or ovarian cancer where a BRCA1/2 mutation is not found—
    • Relatives will remain at some increased risk for the cancers in their family.
    • The level of risk, appropriate screening and prevention options, and whether additional genetic testing is needed will vary for each person and each family.

Understanding and coping with a strong family history of breast or ovarian cancer can be challenging for individuals and families. Genetic counselors can help by providing information, resources, and support to families both with and without BRCA1/2 mutations.

Learn more about family history risk categories


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