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Rare Disease Forum by Genetidoc Genetic Clinic Forums Cancer Genetics Hereditary Cancer Syndromes Lynch syndrome Does a negative test mean I have no risk for Lynch syndrome at all?

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    • #278
      Anonymous
      Moderator

      Does a negative test mean I have no risk for Lynch syndrome at all?

    • #282
      Sana Fathima K S
      Keymaster

      Not necessarily, and the interpretation depends heavily on context:

      *If a specific familial variant has already been identified in a relative and your test doesn’t show it, this is a “true negative” and your risk returns to that of the general population.
      *If no familial variant has been identified and you test negative on a broad panel, this is less conclusive. It may mean the cancers in your family are due to a different cause, or that current testing technology hasn’t identified the responsible change yet, however negative testing does imply that the genetic cause is likely to be low.
      *A result may also come back as a “variant of uncertain significance” (VUS) – a genetic change that hasn’t yet been classified as harmful or harmless as the current research on the variant are insufficient to classify them. This does not confirm or rule out Lynch syndrome and is usually reviewed again over time as more data becomes available.

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