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Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

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Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

The Lancet Oncology

Fecha de publicación: 7 de junio de 2021

Autores: The International Mismatch Repair Consortium 

DOI: https://doi.org/10.1016/S1470-2045(21)00189-3

Background: 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.

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