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Genetic counseling after genetic testing is important to help you understand your test results and decide the next steps for you and your family:

If you have a positive test result, the test showed that you have a mutation known to cause hereditary breast and ovarian cancer.

What it means for you:

  • You can take steps to make it less likely that you will get cancer or to find cancer early if you do get it.
  • If you have already had breast or ovarian cancer, a positive test result can help guide your treatment decisions.

What it means for your family:

  • If other family members decide to get genetic testing, their test should check for the same mutation you have.
  • Your parents, children, sisters, and brothers each have a 1 in 2 (50%) chance of having the same mutation.

If you have a negative test result, the test didn’t find a mutation. However, what this means for you depends on whether you have already had breast or ovarian cancer and whether another relative is known to have a mutation.

If you have already had breast or ovarian cancer:

What it means for you:

  • A negative result means that the test did not find a mutation that caused your cancer.
  • Further testing might be available.

What it means for your family:

  • The breast and ovarian cancer in your family is less likely to be due to an inherited mutation unless another relative is known to have a mutation.
  • Genetic testing in your family members who have not had breast or ovarian cancer is unlikely to be helpful unless another relative is known to have a mutation.
  • In some cases, testing might still be helpful for another family member who has had breast or ovarian cancer. This is because it is still possible that there is an inherited mutation in your family, but you did not inherit it.

If you have NOT had breast or ovarian cancer:

What it means for you:

  • If a mutation has not already been found in another family member:
    • A negative test result is considered uninformative because the result could mean that:
      • The breast and ovarian cancers in your family are caused by one of the mutations included in the genetic test but you did not inherit the mutation.
        OR
      • The breast and ovarian cancers in your family were not caused by a mutation that was included in the genetic test.
    • You are still considered at increased risk for the cancers that run in your family. The level of risk, appropriate screening and prevention options, and need for additional genetic testing will vary for each person and each family.
  • If a mutation has already been found in another family member and the test showed you do not have the mutation:
    • You are not at higher risk than the average person for breast or ovarian cancer. You also cannot pass the mutation on to your children.

If you have a variant of uncertain significance (VUS) result, the test found a mutation in one of the genes associated with hereditary breast and ovarian cancer, but whether that specific mutation causes cancer is unknown. Some mutations prevent genes from working properly, while others have no effect. It is not always easy to tell whether or not a mutation in a gene has a harmful effect.

What it means for you:

  • If you have already had breast or ovarian cancer, it is unclear whether the mutation found in the test caused your cancer. Further testing might be available.
  • Whether or not you have already had breast or ovarian cancer, you are still considered at increased risk for the cancers that run in your family. The level of risk, appropriate screening and prevention options, and need for additional genetic testing will vary for each person and each family.

Sources: 

  1. Adapted from Center of Disease Control and Prevention, Talking to Your Family About Your BRCA1 or BRCA2 Mutation, https://www.cdc.gov/genomics/disease/breast_ovarian_cancer/talking_hboc.htm, accessed on August 14th, 2020. 

Additional Readings:

  1. Adapted from Center of Disease Control and Prevention, Medical Options for Women with BRCA 1 and BRCA 2 Mutations, https://www.cdc.gov/genomics/disease/breast_ovarian_cancer/medical_options.htm 

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