PMS2: Cancer Risks
Cancer Risks Associated with Inherited Mutations
If you have tested positive for a PMS2 mutation, we recommend speaking with a genetics expert who can assess your personal and family history of cancer, and can help you decide on a plan to manage your cancer risk.
People with an inherited PMS2 mutation have an increased lifetime risk for several cancers. Additionally, the cancers tend to occur at a younger age than people in the general population. The following are the most common cancers.
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Cancer Type
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Lifetime Risk with PMS2 Mutation
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Lifetime Risk in General Population
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Average Age of Diagnosis with PMS2 Mutation
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Average Age of Diagnosis in General Population
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Colorectal
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8.7-20%
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4%
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61-66 years
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68 - 72 years
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Endometrial
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13-26%
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3.1%
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49-50 years
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60 years
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Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric; v. 1, 2025.
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Other cancers
For people with mutations in the other genes, research has shown an increased risk for several additional cancers beyond endometrial and colorectal. However, for people with PMS2 mutations, the risk for these other cancers may not be increased. More research is needed to learn if the lifetime risk for cancers other than colorectal and endometrial cancers is elevated compared to people without a mutation.