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. This study aims to elucidate gene-specific adenoma detection rates and their association with post-colonoscopy CRC (PCCRC), which stands as an important issue in LS surveillance.

Conclusions

Carriers of MLH1/MSH2 pathogenic variants are at a higher risk of developing advanced adenomas(AAs) compared with those with MSH6/PMS2mutations, with MSH6 carriers exhibiting an intermediate risk profile. AAs are an independent risk factor for PCCRC. LS patients with AAs should be identified as high risk and undergo enhanced colonoscopy surveillance.

https://www.gastrojournal.org/article/S0016-5085(25)00650-X/abstract

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