Article
Phenotypic and genotypic heterogeneity of Lynch syndrome: a complex diagnostic challenge.
Familial cancer - 1 Jul 2018
Lynch Henry T, Lanspa Stephen, Shaw Trudy, Casey Murray Joseph, Rendell Marc, Stacey Mark, Townley Theresa, Snyder Carrie, Hitchins Megan, Bailey-Wilson Joan
Abstract excerpt
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 genomic landscape,...
Topics
Join the communities discussing this publication.