Variation in Lynch Syndrome : Correspondence

open access: Diseases of the Colon & Rectum

To the Editor—

In the latest version of “For Debate,” 2 articles are presented that discuss the variation in the clinical presentation of Lynch syndrome. The first, by Ponti et al,¹ deals with genetic anticipation by which affected members of a family with an hereditary syndrome develop disease at earlier ages in succeeding generations. The second, by Nancy You,² focuses more on variability in expression due to different genotypes and other, yet to be identified, genetic modifiers. There is really no debate here, with exception, perhaps, of the unresolved controversy over the existence of anticipation in hereditary colorectal cancer. As with other hereditary syndromes of colorectal cancer predisposition, different Lynch syndrome families, with different mutations, sometimes in different genes, have different clinical pictures. This is expected. It is more surprising that affected family members, carrying the same mutation, may also have different clinical presentations. This is clinically relevant given the suggestion that surveillance in Lynch syndromes families be designed around the family pattern of disease......

...... We can always relax surveillance when the safety of the relaxation becomes better established, but missing an early cancer because of a conservative approach from the start goes against the grain.