No Mutation Detected or Favor Polymorphism

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 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

  • No Mutation Detected
  • Genetic Variant, Favor Polymorphism

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).

If You Were Tested with BOTH Comprehensive COLARIS® and MSH6 Analysis and Your Test Result is "No Mutation Detected"

  • There were no mutations or alterations detected in either the MLH1, MSH2, or MSH6 gene.
  • The chance that you have HNPCC syndrome is significantly reduced but not completely ruled out.

If You Were Tested with ONLY Comprehensive COLARIS® and Your Test Result is "No Mutation Detected"

  • There were no mutations or alterations detected in either the MLH1 or MSH2 gene.
  • The chance that you have HNPCC syndrome is reduced but not ruled out.
  • You may want to consider MSH6 Analysis.

If You Were Tested with ONLY Gene-Specific COLARIS® and Your Test Result is "No Mutation Detected"

  • There were no mutations or alterations detected in one of the HNPCC genes.
  • The chance that you have HNPCC syndrome is reduced but not ruled out.
  • You may want to consider analysis of the other genes responsible for HNPCC syndrome.

If Your Test Result is "Genetic Variant, Favor Polymorphism"

  • A genetic change or variant was detected in either the MLH1, MSH2, or MSH6 gene.
  • It is normal to see some variation in genes – not everyone is alike.
  • These variants are called polymorphisms.
  • Polymorphisms do not cause HNPCC syndrome.
  • The chance that you have HNPCC syndrome is significantly reduced but not completely ruled out.

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:
    • 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

  • Your test result has given you some helpful information but it is still 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

  • Since no mutation was found in you, most often, your relatives would not be offered genetic testing.
  • In some cases, genetic testing should be offered to another relative who has been diagnosed with an HNPCC cancer in order to provide more information about hereditary risk in the family. 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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