Epigenetics and genetics in endometrial cancer: New carcinogenic mechanisms and relationship with clinical practice

Kouji Banno, Iori Kisu, Megumi Yanokura, Kenta Masuda, Arisa Ueki, Yusuke Kobayashi, Nobuyuki Susumu, Daisuke Aoki

Research output: Contribution to journalReview articlepeer-review

34 Citations (Scopus)


Endometrial cancer is the seventh most common cancer worldwide among females. An increased incidence and a younger age of patients are also predicted to occur, and therefore elucidation of the pathological mechanisms is important. However, several aspects of the mechanism of carcinogenesis in the endometrium remain unclear. Associations with genetic mutations of cancer-related genes have been shown, but these do not provide a complete explanation. Therefore, epigenetic mechanisms have been examined. Silencing of genes by DNA hypermethylation, hereditary epimutation of DNA mismatch repair genes and regulation of gene expression by miRNAs may underlie carcinogenesis in endometrial cancer. New therapies include targeting epigenetic changes using histone deacetylase inhibitors. Some cases of endometrial cancer may also be hereditary. Thus, patients with Lynch syndrome which is a hereditary disease, have a higher risk for developing endometrial cancer than the general population. Identification of such disease-related genes may contribute to early detection and prevention of endometrial cancer.

Original languageEnglish
Pages (from-to)147-162
Number of pages16
Issue number2
Publication statusPublished - 2012 Apr


  • DNA hypermethylation
  • DNA mismatch repair
  • HDAC inhibitor
  • Lynch syndrome
  • MMR
  • endometrial cancer
  • epimutation
  • hMLH1
  • lower uterine segment
  • miRNA

ASJC Scopus subject areas

  • Genetics
  • Cancer Research


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