Lynch Henry T, Lanspa Stephen, Shaw Trudy, Casey Murray Joseph, Rendell Marc, Stacey Mark, Townley Theresa, Snyder Carrie, Hitchins Megan, Bailey-Wilson Joan
Hereditary Cancer Center, Creighton University, 202 Hixson-Lied Science Building, Omaha, NE, 68178, USA.
Gastrointestinal Division, Internal Medicine Department, Creighton University, Omaha, NE, 68178, USA.
Fam Cancer. 2018 Jul;17(3):403-414. doi: 10.1007/s10689-017-0053-3.
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.
林奇综合征是一种遗传性疾病，它最常导致结直肠癌，同时也易引发多种结外癌症，最显著的是子宫内膜癌。它由错配修复基因的种系突变引起。其表型和基因型都表现出明显的异质性。本文综述了该综合征的历史概况、异质性、基因组格局及其对复杂诊断、遗传咨询的影响以及对免疫治疗的潜在影响。
