Phenotypic and genotypic heterogeneity of Lynch syndrome: a complex diagnostic challenge.

Lynch HT1, Lanspa S2,3, Shaw T2, Casey MJ2,4, Rendell M5, Stacey M2, Townley T6, Snyder C2, Hitchins M7, Bailey-Wilson J8.

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Abstract

Lynch syndrome is the hereditary disorder that most frequently predisposes to colorectal cancer as well as predisposing to a number of extracolonic cancers, most prominently endometrial cancer. It is caused by germline mutations in the mismatch repair genes. Both its phenotype and genotype show marked heterogeneity. This review gives a historical overview of the syndrome, its heterogeneity, its genomiclandscape, and its implications for complex diagnosis, genetic counseling and putative implications for immunotherapy.