Endometrial cancer as a familial tumor: Pathology and molecular carcinogenesis (review)

Kouji Banno, Megumi Yanokura, Yusuke Kobayashi, Makiko Kawaguchi, Hiroyuki Nomura, Akira Hirasawa, Nobuyuki Susumu, Daisuke Aoki

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Some cases of endometrial cancer are associated with a familial tumor and are referred to as hereditary nonpolyposis colorectal cancer (HNPCC or Lynch syndrome). Such tumors are thought to be induced by germline mutation of the DNA mismatch repair (MMR) gene, but many aspects of the pathology of familial endometrial cancer are unclear and no effective screening method has been established. However, the pathology of endometrial cancer with familial tumor has been progressively clarified in recent studies. At present, about 0.5% of all cases of endometrial cancers meet the clinical diagnostic criteria for HNPCC. A recent analysis of the three MMR genes (hMLH1, hMSH2 and hMSH6) revealed germline mutations in 18 of 120 cases (15.0%) of endometrial cancer with familial accumulation of cancer or double cancer, with a frameshift mutation of the hMSH6 gene being the most common. Many cases with mutation did not meet the current clinical diagnostic criteria for HNPCC, indicating that familial endometrial cancer is often not diagnosed as HNPCC. The results suggest that the hMSH6 gene mutation may be important in carcinogenesis in endometrial cancer and germline mutations of the MMR gene may be more prevalent in cases associated with familial accumulation of cancer. An international large-scale muticenter study is required to obtain further information about the pathology of endometrial cancer as a familial tumor.

Original languageEnglish
Pages (from-to)127-132
Number of pages6
JournalCurrent Genomics
Volume10
Issue number2
DOIs
Publication statusPublished - 2009

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Molecular Pathology
Endometrial Neoplasms
Carcinogenesis
DNA Mismatch Repair
Germ-Line Mutation
Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms
Genes
Pathology
Frameshift Mutation
Mutation

Keywords

  • DNA mismatch repair gene
  • Endometrial cancer
  • HMLH1
  • HMSH6
  • HNPCC

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Endometrial cancer as a familial tumor : Pathology and molecular carcinogenesis (review). / Banno, Kouji; Yanokura, Megumi; Kobayashi, Yusuke; Kawaguchi, Makiko; Nomura, Hiroyuki; Hirasawa, Akira; Susumu, Nobuyuki; Aoki, Daisuke.

In: Current Genomics, Vol. 10, No. 2, 2009, p. 127-132.

Research output: Contribution to journalArticle

Banno, Kouji ; Yanokura, Megumi ; Kobayashi, Yusuke ; Kawaguchi, Makiko ; Nomura, Hiroyuki ; Hirasawa, Akira ; Susumu, Nobuyuki ; Aoki, Daisuke. / Endometrial cancer as a familial tumor : Pathology and molecular carcinogenesis (review). In: Current Genomics. 2009 ; Vol. 10, No. 2. pp. 127-132.
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