林奇综合征
微卫星不稳定性
子宫内膜癌
医学
DNA错配修复
结直肠癌
基因检测
癌症
家族史
生物信息学
遗传学
内科学
生物
基因
微卫星
等位基因
作者
Henry T. Lynch,Carrie Snyder,Trudy G. Shaw,Christopher D. Heinen,Megan P. Hitchins
摘要
Lynch syndrome, which is now recognized as the most common hereditary colorectal cancer condition, is characterized by the predisposition to a spectrum of cancers, primarily colorectal cancer and endometrial cancer. We chronicle over a century of discoveries that revolutionized the diagnosis and clinical management of Lynch syndrome, beginning in 1895 with Warthin's observations of familial cancer clusters, through the clinical era led by Lynch and the genetic era heralded by the discovery of causative mutations in mismatch repair (MMR) genes, to ongoing challenges.
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