Lynch syndrome is a hereditary cancer predisposition syndrome caused by germline alterations in the mismatch repair genes and is the most common etiology of hereditary colorectal cancer. While Lynch syndrome was initially defined by the clinical Amsterdam criteria, these criteria lack the sensitivity needed for clinical utility. This review covers the evolution of screening for Lynch syndrome from the use of tumor microsatellite instability and/or somatic alterations in mismatch repair protein expression by immunohistochemistry to the newest methods using next-generation sequencing. Additionally, it discusses the clinical implications of the diagnosis of Lynch syndrome as it affects cancer therapeutics and the role of screening in noncolorectal Lynch-associated cancers. As molecular oncology continues to evolve, it is crucial to remain current on the increasing complexity of Lynch syndrome diagnostics and treatment options.

中文翻译：

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林奇综合症：从现代分子肿瘤学时代的筛查，诊断到治疗。

Lynch综合征是由错配修复基因的种系改变引起的遗传性癌症易感综合征，并且是遗传性大肠癌的最常见病因。Lynch综合征最初是由阿姆斯特丹的临床标准定义的，但这些标准缺乏临床实用性所需的敏感性。这篇综述涵盖了通过免疫组织化学使用肿瘤微卫星不稳定性和/或失配修复蛋白表达的体细胞变化到使用下一代测序的最新方法来筛查Lynch综合征的演变。此外，它还讨论了Lynch综合征的诊断的临床意义，因为它会影响癌症治疗方法以及在非结肠直肠Lynch相关癌症中进行筛查的作用。随着分子肿瘤学的不断发展，