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Colonoscopy surveillance in Lynch syndrome: what it prevents and what it does not.

Houlston RS, Dunlop MGJ Med Genet 2026 · May 2026
Relevance score
7/10
Disease / domain
Lynch syndrome (HNPCC) — effectiveness of colonoscopic surveillance
Source
PubMed
PMID 41825943
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Gene / mechanism

Critical review of prospective (PLSD) and historical data on colonoscopic surveillance in Lynch: impact on CRC incidence vs CRC mortality, accelerated MMR-deficient tumorigenesis pathways

Summary

This narrative review synthesizes data on the effectiveness of colonoscopic surveillance in Lynch syndrome. Recent prospective data (PLSD) consistently show high CRC incidence despite regular surveillance, but low CRC mortality — benefit through earlier-stage detection rather than primary prevention. Discordances with historical studies reflect methodological biases and an accelerated tumorigenesis pathway (MMR-deficient crypt foci bypassing conventional precursors). Less intensive surveillance is appropriate for PMS2 carriers.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Analysis

This text is essential for geneticists and gastroenterologists involved in Lynch follow-up: annual colonoscopy in MLH1/MSH2 reduces CRC mortality but insufficiently prevents incidence. This argues for complementary strategies — chemoprevention (aspirin), AI-assisted colonoscopy, chromoendoscopy. Gene-stratified surveillance (PMS2 = longer intervals) is confirmed by prospective data.

Why this score?

Clinical impact: 3/3 · Evidence strength: 2/3 · Novelty: 1/2 · Sample size: 0/1 · Journal quality: 1/1 → Total: 7/10

Keywords

Lynch syndromecolonoscopysurveillanceMMRcolorectal cancer
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