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Abstract：
Inherited mutations of the DNA Mismatch repair genes MLH1, MSH2, MSH6 and PMS2 can result in two hereditary tumor syndromes: the adult-onset autosomal dominant Lynch syndrome, previously referred to as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and the childhood-onset autosomal recessive Constitutional Mismatch Repair Deficiency syndrome. Both conditions are important to recognize clinically as their identification has direct consequences for clinical management and allows targeted preventive actions in mutation carriers. Lynch syndrome is one of the more common adult-onset hereditary tumor syndromes, with thousands of patients reported to date. Its tumor spectrum is well established and includes colorectal cancer, endometrial cancer and a range of other cancer types. However, surveillance for cancers other than colorectal cancer is still of uncertain value. Prophylactic surgery, especially for the uterus and its adnexa is an option in female mutation carriers. Chemoprevention of colorectal cancer with aspirin is actively being investigated in this syndrome and shows promising results. In contrast, the Constitutional Mismatch Repair Deficiency syndrome is rare, features a wide spectrum of childhood onset cancers, many of which are brain tumors with high mortality rates. Future studies are very much needed to improve the care for patients with this severe disorder.
摘要：
DNA错配修复基因MLH1，MSH2，MSH6和PMS2的遗传突变可导致两种遗传性肿瘤综合征：成人发作常染色体显性林奇综合征，以前被称为遗传性非息肉病性结直肠癌（HNPCC）和儿童期发病的常染色体隐性遗传体质错配修复缺陷综合征。这两种情况对于临床识别都很重要，因为它们的识别对临床管理具有直接影响，并允许在突变携带者中采取有针对性的预防措施。Lynch综合征是较常见的成人遗传性肿瘤综合征之一,迄今为止报告了成千上万的患者。它的肿瘤谱已经确立，包括结直肠癌，子宫内膜癌和一系列其他癌症类型。然而,对结直肠癌以外的其他癌症的监测仍然具有不确定的价值.预防性手术,特别是对于子宫及其附件是女性突变携带者的一种选择。在这种综合征中，正在积极研究阿司匹林对大肠癌的化学预防，并显示出有希望的结果。相比之下,宪法不匹配修复缺陷综合征是罕见的，具有广泛的儿童发病癌症，其中许多是高死亡率的脑肿瘤。非常需要未来的研究来改善对这种严重疾病患者的护理。
