Next Article in Journal
RNA Interference in Moths: Mechanisms, Applications, and Progress
Next Article in Special Issue
Evaluation of Methylation Biomarkers for Detection of Circulating Tumor DNA and Application to Colorectal Cancer
Previous Article in Journal
Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders
Article Menu

Export Article

Open AccessArticle
Genes 2016, 7(10), 86; doi:10.3390/genes7100086

Methylation Analysis of DNA Mismatch Repair Genes Using DNA Derived from the Peripheral Blood of Patients with Endometrial Cancer: Epimutation in Endometrial Carcinogenesis

Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo 160-8582, Japan
*
Author to whom correspondence should be addressed.
Academic Editor: Nora Nock
Received: 7 July 2016 / Revised: 28 August 2016 / Accepted: 6 October 2016 / Published: 14 October 2016
(This article belongs to the Special Issue Cancer Genetics)
View Full-Text   |   Download PDF [4071 KB, uploaded 14 October 2016]   |  

Abstract

Germline mutation of DNA mismatch repair (MMR) genes is a cause of Lynch syndrome. Methylation of MutL homolog 1 (MLH1) and MutS homolog 2 (MSH2) has been detected in peripheral blood cells of patients with colorectal cancer. This methylation is referred to as epimutation. Methylation of these genes has not been studied in an unselected series of endometrial cancer cases. Therefore, we examined methylation of MLH1, MSH2, and MSH6 promoter regions of peripheral blood cells in 206 patients with endometrial cancer using a methylation-specific polymerase chain reaction (MSP). Germline mutation of MMR genes, microsatellite instability (MSI), and immunohistochemistry (IHC) were also analyzed in each case with epimutation. MLH1 epimutation was detected in a single patient out of a total of 206 (0.49%)—1 out of 58 (1.72%) with an onset age of less than 50 years. The patient with MLH1 epimutation showed high level MSI (MSI-H), loss of MLH1 expression and had developed endometrial cancer at 46 years old, complicated with colorectal cancer. No case had epimutation of MSH2 or MSH6. The MLH1 epimutation detected in a patient with endometrial cancer may be a cause of endometrial carcinogenesis. This result indicates that it is important to check epimutation in patients with endometrial cancer without a germline mutation of MMR genes. View Full-Text
Keywords: Lynch syndrome; epimutation; endometrial cancer; mismatch repair genes; methylation Lynch syndrome; epimutation; endometrial cancer; mismatch repair genes; methylation
Figures

Figure 1

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. (CC BY 4.0).

Scifeed alert for new publications

Never miss any articles matching your research from any publisher
  • Get alerts for new papers matching your research
  • Find out the new papers from selected authors
  • Updated daily for 49'000+ journals and 6000+ publishers
  • Define your Scifeed now

SciFeed Share & Cite This Article

MDPI and ACS Style

Takeda, T.; Banno, K.; Yanokura, M.; Adachi, M.; Iijima, M.; Kunitomi, H.; Nakamura, K.; Iida, M.; Nogami, Y.; Umene, K.; Masuda, K.; Kobayashi, Y.; Yamagami, W.; Hirasawa, A.; Tominaga, E.; Susumu, N.; Aoki, D. Methylation Analysis of DNA Mismatch Repair Genes Using DNA Derived from the Peripheral Blood of Patients with Endometrial Cancer: Epimutation in Endometrial Carcinogenesis. Genes 2016, 7, 86.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Genes EISSN 2073-4425 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top