BRACAnalysis® Positive for a Deleterious Mutation
or Suspected Deleterious

This information is designed for individuals who have been tested for a hereditary cancer syndrome. It will help you understand the results of your test and is best reviewed with your healthcare provider. Please choose the link below that matches your test result by looking at the patient copy of your test result or contacting the healthcare provider who ordered your test.

The Genetic Test You Received

  • Comprehensive BRACAnalysis®: Full sequence and large rearrangement analysis of the BRCA1 and BRCA2 genes.
  • Single Site BRACAnalysis®: Mutation-specific analysis for individuals with a previously identified BRCA1or BRCA2 mutation in the family.
  • Multisite 3 BRACAnalysis®: Analysis of the three most common BRCA1 and BRCA2 mutations in individuals of Ashkenazi Jewish ancestry.

Your Test Result

  • Positive for a Deleterious Mutation
  • Genetic Variant, Suspected Deleterious

Overview of Your Test Result

Mutations in BRCA1 and BRCA2 cause most cases of hereditary breast and ovarian cancer (HBOC), a syndrome that involves various cancers, primarily breast and ovarian.

  • You have a mutation or alteration in either the BRCA1 or BRCA2 gene.
  • You have HBOC syndrome.
  • HBOC syndrome increases the risk of various cancers, primarily breast and ovarian.
  • The risk of developing these cancers is less than 100% so not everyone with HBOC syndrome will develop cancer.

Your Cancer Risks

Having a BRCA1 or BRCA2 mutation increases the risk of certain cancers. If you have already had a cancer diagnosis, you have an increased risk for developing another cancer.

If you have NOT had breast or ovarian cancer Mutation
Carrier		 General
Population
Breast cancer by age 50 33-50% 2%
Breast cancer by age 70 56-87% 7%
Ovarian cancer by age 70 27-44% <2%
Male breast cancer by age 70 6% .05%
If you HAVE had breast or ovarian cancer Mutation
Carrier		 General
Population
Ovarian cancer 15% not available
Breast cancer after 5 years 27% 11%
Breast cancer by age 70 64% 11%
Other cancer risks* Mutation
Carrier		 General
Population
Prostate cancer by age 80 20% 15%
Pancreatic cancer by age 80 2-4% <1%

*Less information is available about the risks of these and other cancers than about breast and ovarian.

Managing Your Risks

Options for reducing cancer risk are available whether or not you have already had a cancer diagnosis. The following are medical management guidelines for BRCA1 and BRCA2 mutationpositive individuals. Discuss these options with the appropriate medical professionals to determine how you will manage your cancer risks.

Increased Surveillance

  • Monthly breast self-exams beginning between the ages of 18 to 21 and annual or semiannual clinical breast exams, beginning between the ages of 25 to 35.
  • Yearly mammography and/or breast MRI beginning between the ages of 25 to 35.*
  • Annual or semiannual transvaginal ultrasound with color doppler and testing for CA-125 to screen for ovarian cancer beginning between the ages of 25 to 35.*
  • Adhere to population screening guidelines for colon cancer.
    * May need to be individualized based on earliest age of onset in family.

Chemoprevention

  • Drugs such as tamoxifen have been shown to reduce the risk of breast cancer.
  • Oral contraceptives may reduce the risk of ovarian cancer.

Preventive Surgery

  • Preventive removal of the breasts (mastectomy) significantly reduces the risk of breast cancer.
  • Preventive removal of the ovaries (oophorectomy) significantly reduces the risk of ovarian cancer, and also breast cancer.

For Men

  • Regular monthly breast self-exam.
  • Annual clinical breast exam.
  • Talk to your healthcare provider about mammography.
  • Adhere to population screening guidelines for prostate and colon cancer.

Note: Some families also have an increased incidence of pancreatic tumors and melanoma. Consider full body skin exam for melanoma and investigational protocols for pancreatic cancer.

It's a Family Affair

BRCA1 and BRCA2 mutations are passed on in a family. Now that a mutation has been identified in you:

  • Your close blood relatives (parents, children, brothers, and sisters) have a 50% chance of having the same mutation.
  • More distant relatives (cousins, uncles, and aunts) also have a chance of having the mutation that runs in your family.
  • Generally, the mutation is only going to be found on the side of your family (father's or mother's) that has the history of breast and ovarian cancer.

Your relatives can be offered Single Site BRACAnalysis®* to determine whether or not they have the same mutation.

  • Relatives interested in genetic testing will need to know your specific mutation. It is best to provide your relatives with a copy of your test result which you can obtain from your healthcare provider.
  • Single Site BRACAnalysis® costs much less than a comprehensive test and may be covered by insurance.
  • If your relative is:
    • Positive for the mutation, he/she has the increased cancer risks associated with BRCA1 and BRCA2 mutations and can benefit from appropriate medical management.
    • Negative for the mutation, he/she has an average risk of cancer and can follow general population screening guidelines.

Your healthcare provider can assist in determining which of your relatives should consider genetic testing.

If you need a copy of your genetic test result, please contact the healthcare provider who ordered your test.

* If you had a Multisite3 testing, your relatives may need Multisite3 testing instead of Single Site analysis; talk to your doctor about this possibility.

Next Steps

Please work with your healthcare provider to determine the most appropriate next steps for you.

  • Obtain a copy of your test result.
  • Schedule consultations with appropriate healthcare providers.
  • Create a plan for medical management
    Increased surveillance:
    Chemoprevention:
    Preventive surgery:
  • Share your genetic test result with your relatives (identify your specific mutation so relatives can have Single Site testing).
  • Re-contact your healthcare provider on a regular basis for new information about HBOC.

Additional Resources

Myriad has resources available to help you with your genetic test result.

  • Contact Myriad's Medical Services Department at 1-800-469-7423 for:
    • Answers to questions about your test result.
    • Information about genetic testing for your relatives.
  • Online tools:

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