Peltomäki Päivi
Department of Medical Genetics, University of Helsinki, Finland.
J Clin Oncol. 2003 Mar 15;21(6):1174-9. doi: 10.1200/JCO.2003.04.060.
The DNA mismatch repair (MMR) system is necessary for the maintenance of genomic stability. In a broad sense, all main functions of the MMR system, including the correction of biosynthetic errors, DNA damage surveillance, and prevention of recombination between nonidentical sequences serve this important purpose. Failure to accomplish these functions may lead to cancer. It is therefore not surprising that inherited defects in the MMR system underlie one of the most prevalent cancer syndromes in humans, hereditary nonpolyposis colon cancer (HNPCC). In addition, acquired defects of the same system may account for 15% to 25%, or even a higher percentage, of sporadic cancers of different organs of the "HNPCC spectrum," including the colon and rectum, uterine endometrium, stomach, and ovaries. Recent studies indicate that the MMR genes may be involved in the pathogenesis of even a broader spectrum of tumors in one way or another. An updated review of the different features of the human MMR system will be provided, with the emphasis on their implications in cancer development.
DNA错配修复（MMR）系统对于维持基因组稳定性是必需的。从广义上讲，MMR系统的所有主要功能，包括纠正生物合成错误、DNA损伤监测以及防止非同源序列之间的重组，都服务于这一重要目的。无法完成这些功能可能会导致癌症。因此，MMR系统的遗传性缺陷是人类最常见的癌症综合征之一——遗传性非息肉病性结直肠癌（HNPCC）的基础，这并不奇怪。此外，同一系统的获得性缺陷可能占“HNPCC谱系”不同器官散发性癌症的15%至25%，甚至更高比例，这些器官包括结肠和直肠、子宫内膜、胃和卵巢。最近的研究表明，MMR基因可能以某种方式参与了更广泛谱系肿瘤的发病机制。本文将对人类MMR系统的不同特征进行更新综述，重点关注它们在癌症发展中的意义。
