Table of Contents
Molecular Biology International
Volume 2011 (2011), Article ID 256063, 6 pages
Review Article

Relationship between DNA Mismatch Repair Deficiency and Endometrial Cancer

Department of Obstetrics and Gynecology, Keio University School of Medicine, Shinanomachi 35 Shinjuku-Ku, Tokyo 160-8582, Japan

Received 28 January 2011; Revised 25 August 2011; Accepted 20 September 2011

Academic Editor: Mark Berneburg

Copyright © 2011 Kenta Masuda et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Some cases of endometrial cancer are associated with a familial tumor and are referred to as hereditary nonpolyposis colorectal cancer (HNPCC or Lynch syndrome). Lynch syndrome is thought to be induced by germline mutation of the DNA mismatch repair (MMR) gene. An aberration in the MMR gene prevents accurate repair of base mismatches produced during DNA replication. This phenomenon can lead to an increased frequency of errors in target genes involved in carcinogenesis, resulting in cancerization of the cell. On the other hand, aberrant DNA methylation is thought to play a key role in sporadic endometrial carcinogenesis. Hypermethylation of unmethylated CpG islands in the promoter regions of cancer-related genes associated with DNA repair leads to the cell becoming cancerous. Thus, both genetic and epigenetic changes are intricately involved in the process through which cells become cancerous. In this review, we introduce the latest findings on the DNA mismatch repair pathway in endometrial cancer.