Genetic Variant of Uncertain Significance

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.

Overview of Adenomatous Polyposis Syndromes

Mutations in APC and MYH cause most cases of adenomatous polyposis syndromes. These syndromes include familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), and MYH-associated polyposis (MAP). These syndromes are associated with the development of varying numbers of adenomas (pre-cancerous polyps) in the colon and rectum. They also lead to an increased risk of colon/rectal (colorectal) cancer and, in some cases, other types of cancer.

The Genetic Test You Received

  • Comprehensive COLARIS AP®: Full sequence and large rearrangement analysis of the APC gene and a mutation panel of the MYH gene.
  • Gene-Specific COLARIS AP® MYH Analysis: Full sequence analysis of the MYH gene.
  • Gene-Specific COLARIS AP® APC Analysis: Full sequence and large rearrangement analysis of the APC gene.

Your Test Result

  • Genetic Variant of Uncertain Significance

Overview of Your Test Result

  • A change was detected in either the APC or MYH gene but it is not known if this change is linked to adenomas and cancer.
  • This change is called a genetic variant of uncertain significance.
  • Ongoing efforts to gather information about genetic variants of uncertain significance, such as the one identified in your test, will continue.
  • If new information becomes available about your variant, it will be sent to the healthcare provider who ordered your test.

Your Cancer Risks

  • Your cancer risks should be estimated based on your personal and family history of adenomas and cancer.
  • Your healthcare provider can assist you in understanding these risks.
  • The possibility remains that your cancer risks could be increased due to:
    • Ultimately finding that your variant causes an adenomatous polyposis syndrome.
    • Other non-hereditary factors (for example: environment).
    • Another hereditary cancer syndrome.
    • A mutation in one of the genes analyzed that current technology cannot detect.

Managing Your Risks

  • It is best to manage your cancer risks based on your personal and family history.
  • You and your healthcare provider can develop the most appropriate plan for your medical management.
  • Your healthcare provider can help you determine whether any further genetic testing should be offered to you or to a family member.

It’s a Family Affair

  • Based on your test result it is not clear if an adenomatous polyposis syndrome runs in your family.
  • Some of your relatives may be offered research testing at no charge to gather more information about your variant. Talk to your healthcare provider about this option.

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

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.
  • Share your genetic test result with your relatives.
  • Re-contact your healthcare provider on a regular basis for new information.

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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