Gene-Specific Detection Rate of Adenomas and Advanced Adenomas in Lynch Syndrome

Colonoscopy is expected to reduce colorectal cancer (CRC) incidence in Lynch syndrome (LS) by detecting and removing adenomas. The existence of gene-specific differences in adenoma detection has been proposed yet remains insufficiently explored.

Conclusions

Carriers of MLH1/MSH2 pathogenic variants are at a higher risk of developing AAs compared with those with MSH6/PMS2 mutations, with MSH6 carriers exhibiting an intermediate risk profile. Advanced adenomas(AA) are an independent risk factor for post-colonoscopy CRC . LS patients with AAs should be identified as high risk and undergo enhanced colonoscopy surveillance.

https://www.sciencedirect.com/science/article/abs/pii/S001650852500650X?dgcid=author

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