Lynch syndrome is the most frequent hereditary colorectal cancer (CRC) syndrome, affecting approximately 1 in 300 in the Western population. It is caused by pathogenic variants in the mismatch repair (MMR) genes including MLH1, MSH2 (EPCAM), MSH6 and PMS2, and is associated with high risks of CRC, endometrial cancer and other cancers. In view of these risks, carriers of such variants are encouraged to participate in colonoscopic surveillance programs that are known to substantially improve their prognosis. In the last decade several important studies have been published that provide detailed cancer risk estimates and prognoses based on large numbers of patients. These studies also provided new insights regarding the pathways of carcinogenesis in CRC, which appear to differ depending on the specific MMR gene defect. In this report, we will discuss the implications of these new findings for the development of new surveillance protocols.

Lynch 综合征是最常见的遗传性结直肠癌 (CRC) 综合征，在西方人群中约有 300 人中有 1 人受到影响。它是由错配修复 (MMR) 基因中的致病变异引起的，包括MLH1、MSH2 ( EPCAM )、MSH6和PMS2，并且与 CRC、子宫内膜癌和其他癌症的高风险有关。鉴于这些风险，鼓励此类变异的携带者参与已知可显着改善其预后的结肠镜监测计划。在过去的十年中，已经发表了几项重要的研究，这些研究提供了基于大量患者的详细癌症风险估计和预后。这些研究还提供了关于 CRC 致癌途径的新见解，这些途径似乎因特定的 MMR 基因缺陷而异。在本报告中，我们将讨论这些新发现对开发新监测协议的影响。