Lynch Syndrome with Suggestive Family History and No Personal History of Colorectal or Other Cancer

This page addresses the clinical situation where a patient has a family history suggestive of Lynch syndrome but has no personal history of colorectal or another Lynch-associated cancer, and no known family history of a confirmed Lynch syndrome mutation.

Clinical scenario: The patient has no personal history of colorectal or another cancer. Family history is suggestive of Lynch syndrome, but no pathogenic mutation has been identified in the family. The probability of carrying a Lynch syndrome mutation is uncertain and requires formal assessment.

Recommended approach

Current evidence-based guidance suggests using a validated risk prediction model to formally estimate the likelihood of carrying a Lynch syndrome mutation — rather than proceeding empirically or taking no action. The full protocol specifies which models apply and how results inform next steps…

Instant Access to Structured Evidence-Based Regimens

References

DOI: 10.1053/j.gastro.2015.07.036

In patients without a personal history of colorectal or another cancer but with a family history suggestive of Lynch syndrome, the AGA suggests that risk prediction models be offered rather than doing nothing.

In the absence of that information, the probability of carrying a Lynch syndrome mutation can be estimated rather quickly and easily using the online model PREMM1,2,6 or by using free downloadable software that incorporates the MMRpro model.

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