Department of Internal Medicine, The Ohio State University, Columbus, OH 43240, USA.
Cancer J. 2012 Jul-Aug;18(4):334-7. doi: 10.1097/PPO.0b013e31826094b2.
Lynch syndrome, which is associated with mutations in 1 of 4 mismatch repair genes (MLH1, MSH2, MSH6, and PMS2), is a well-described hereditary cancer predisposition syndrome associated with a substantial risk of colon, rectum, and endometrial cancer. Historically, individuals with Lynch syndrome were identified using clinical classification criteria that have since been shown to be ineffective in most clinical settings, giving way to a more molecular diagnostic approach. These techniques have been repeatedly discussed in the literature, and there are multiple considerations in determining the best approach for a specific family. We review these approaches here as well as the clinical presentation of Lynch syndrome. Although still a relatively rare condition, we stress the importance of the identification of individuals with Lynch syndrome, given the clear data that predictive testing of at-risk family members and subsequent screening for cancers can reduce mortality associated with colorectal and endometrial cancer in these families.
林奇综合征是由 4 个错配修复基因（MLH1、MSH2、MSH6 和 PMS2）中的 1 个突变引起的，是一种明确的遗传性癌症易感性综合征，与结直肠和子宫内膜癌的高风险相关。历史上，林奇综合征患者是通过临床分类标准来识别的，但这些标准在大多数临床环境中已被证明无效，因此采用了更具分子诊断性的方法。这些技术在文献中已被反复讨论，并且在确定特定家族的最佳方法时有多种考虑因素。我们在这里回顾这些方法以及林奇综合征的临床表现。尽管林奇综合征仍然是一种相对罕见的疾病，但鉴于明确的数据表明对高危家庭成员进行预测性检测和随后对这些家族的结直肠癌和子宫内膜癌进行筛查可以降低死亡率，我们强调识别林奇综合征患者的重要性。
