Vasen H F
The Netherlands Foundation for the Detection of Hereditary Tumours, Utrecht/Leiden.
Anticancer Res. 1994 Jul-Aug;14(4B):1613-5.
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominantly inherited disease associated with a marked increase in cancer susceptibility, especially cancer of the colorectum. It is one of the most common cancer predisposing syndromes affecting as many as one in 400 individuals in the Western World. Two (mismatch repair) genes (hMSH2 on chromosome 2p and hMLH1 on chromosome 3p) have recently been identified which appear to be involved in the development of cancer in most of the HNPCC families. Colorectal cancer in HNPCC differs from sporadic colorectal cancer by an early age of onset, a proclivity for the proximal colon, and an excess of synchronous and metachronous colorectal cancers. A variety of extracolonic tumors may be encountered in HNPCC, including cancers of the endometrium, stomach, small bowel, urinary tract (renal pelvis and ureter), biliary system and ovary. The diagnosis HNPCC is currently based upon the combined patient and family data. Future identification of HNPCC will be facilitated by the introduction of genetic markers. Identification of HNPCC families is extremely important, because periodic examination may prevent development of disease and death from cancer.
遗传性非息肉病性结直肠癌（HNPCC）是一种常染色体显性遗传病，与癌症易感性显著增加有关，尤其是结直肠癌。它是最常见的癌症易感综合征之一，在西方世界每400人中就有1人受其影响。最近发现了两个（错配修复）基因（位于2号染色体p臂上的hMSH2和位于3号染色体p臂上的hMLH1），在大多数HNPCC家族中，它们似乎与癌症的发生有关。HNPCC中的结直肠癌与散发性结直肠癌不同，其发病年龄较早，好发于近端结肠，且同时性和异时性结直肠癌的发生率较高。HNPCC患者可能会出现多种结肠外肿瘤，包括子宫内膜癌、胃癌、小肠癌、泌尿系统（肾盂和输尿管）癌、胆道系统癌和卵巢癌。目前HNPCC的诊断基于患者和家族的综合数据。基因标记的引入将有助于未来对HNPCC的识别。识别HNPCC家族极其重要，因为定期检查可能预防疾病的发生和癌症导致的死亡。
