The lancet oncology
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The lancet oncology · Jul 2021
Multicenter StudyVariation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study.
Existing clinical practice guidelines for carriers of pathogenic variants of DNA mismatch repair genes (Lynch syndrome) are based on the mean age-specific cumulative risk (penetrance) of colorectal cancer for all carriers of pathogenic variants in the same gene. We aimed to estimate the variation in the penetrance of colorectal cancer between carriers of pathogenic variants in the same gene by sex and continent of residence. ⋯ National Health and Medical Research Council, Australia.