Genetic Variant of Uncertain Significance

This information is designed to help you understand the results of your genetic test and is best reviewed with your healthcare provider. Please verify that your test result matches the following information 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 COLARIS®: Full sequence and large rearrangement analysis of the MLH1 and MSH2 genes.
  • Gene-Specific COLARIS®: Analysis of only one of the genes
    responsible for HNPCC syndrome: MLH1, MSH2, or MSH6.

Your Test Result

  • Genetic Variant of Uncertain Significance

Overview of Your Test Result

Mutations in MLH1, MSH2, and MSH6 cause most cases of hereditary nonpolyposis colorectal cancer (HNPCC), a syndrome that involves various cancers, primarily colon/rectal (colorectal) and endometrial (uterine).

  • A change was detected in either the MLH1, MSH2, or MSH6 gene but it is not known if this change is linked to 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.
  • You may want to consider testing for other HNPCC genes that were not analyzed.

Your Cancer Risks

  • Your cancer risks should be estimated based on your personal and family history of 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 HNPCC syndrome.
    • Other non-hereditary factors (for example: environment).
    • Another hereditary cancer syndrome.
    • A mutation in one of the HNPCC genes that was not analyzed by your genetic test(s).
    • 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 HNPCC 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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