Lynch Syndrome
ICD-10 Z15.0 · ICD-11 2B90.Y

Lynch Syndrome with Family History and No Personal History of Cancer

This scenario applies to a patient with no personal history of colorectal or another cancer, whose family history is suggestive of Lynch syndrome and who has a first-degree relative with a confirmed Lynch syndrome mutation.

Clinical Scenario

The patient carries no prior cancer diagnosis. A first-degree relative has a known Lynch syndrome mutation, and the broader family history raises clinical concern for Lynch syndrome. In this context, proactive evaluation is recommended rather than an expectant approach.

Approach (Partial)

The recommended step involves targeted germline genetic evaluation — the full protocol specifying how this is structured and sequenced is available below.

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.

If there is a first-degree relative with a known Lynch syndrome mutation, the AGA recommends that the patient be offered germline genetic testing for that mutation.

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