Muir-Torre syndrome

    Muir-Torre Syndrome (MTS) is a subtype of Lynch syndrome. It is an inherited condition that increases a person’s lifetime risk for developing rare types of skin, colorectal, and genitourinary tract cancers.

    The facts

    • Muir-Torre Syndrome (MTS) is an inherited disorder sometimes found in people with colorectal cancer.
    • As with Lynch syndrome, MTS is caused by an inherited harmful change (mutation) in one of the DNA mismatch repair (MMR) genes.
    • The mutation is passed from one generation to the next, and in a family with a parent who has an inherited change in their DNA, each child has 50% of being diagnosed with MTS.

    • The MLH1 and MSH2 genes are most commonly mutated in MTS patients.

      More about mutations

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    Skin cancer and MTS

    The presence of specific types of skin or internal cancers are the primary symptoms of MTS.

    Skin Cancers

    • Sebaceous adenoma is the most frequent symptom in people with MTS (80-99%).
    • Sebaceous carcinoma of the eyelid is an aggressive cancer that spreads to the eye orbit and can be fatal.
    • Additional skin cancers include sebaceous epitheliomas and keratoacanthomas.
    young person caring for an older individual

    Internal cancers

    • 30-79% of MTS patients have colon cancer or stomach cancer.
    • 5-29% of MTS patients have endometrial (uterine) or breast cancer.
    • About 60% of people with MTS develop metastatic disease.
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    Diagnosis and risks

    Since MTS is a subtype of Lynch syndrome, the diagnosis, risk factors, and treatment of this disorder is very similar.

    Top resources

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