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

作者：Lynch Henry T.^*; Lanspa Stephen; Shaw Trudy; Casey Murray Joseph; Rendell Marc; Stacey Mark; Townley Theresa; Snyder Carrie; Hitchins Megan; Bailey-Wilson Joan

来源：Familial Cancer, 2018, 17(3): 403-414.

DOI：10.1007/s10689-017-0053-3

• Lynch syndrome
• Hereditary nonpolyposis colorectal cancer
• Hereditary cancer
• Mismatch repair
• Colorectal cancer
• Endometrial cancer

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, and its implications for complex diagnosis, genetic counseling and putative implications for immunotherapy.

• 出版日期2018-7