International Mismatch Repair Consortium
Lynch syndrome is a familial cancer syndrome caused by inherited mutations in the mismatch repair genes: MLH1, MSH2, MSH6 and PMS2, and the EPCAM gene. Mutation carriers are at increased risks of cancers of the bowel, uterus and several other sites; however, current estimates of cancer risks (penetrance) for specific mutation carriers are limited for clinical translation. Our vision is to collect and analyse Lynch syndrome families (a genetic predisposition to cancer), contributed by a very large worldwide consortium, to provide the most accurate and precise, person-specific estimates of cancer risk.
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