Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2009 Apr;10(2):127-32.
doi: 10.2174/138920209787847069.

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

Kouji Banno  1 , Megumi Yanokura, Yusuke Kobayashi, Makiko Kawaguchi, Hiroyuki Nomura, Akira Hirasawa, Nobuyuki Susumu, Daisuke Aoki
Affiliations

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

Kouji Banno et al. Curr Genomics. 2009 Apr.

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.

Keywords: DNA mismatch repair gene; Endometrial cancer; HNPCC; hMLH1; hMSH6..

PubMed Disclaimer

Figures

Fig. (1)
Fig. (1)
The DNA mismatch repair (MMR) mechanism in humans.
Fig. (2)
Fig. (2)
Clinical characteristics of HNPCC.
See this image and copyright information in PMC

References

    1. Lynch HT, Krush AJ. The cancer family syndrome and cancer control. Surg. Gynecol. Obstet. 1971;132:247–250. - PubMed
    1. Lynch HT, Lynch JF. Hereditary nonpolyposis colorectal cancer. Semin. Surg. Oncol. 2000;18:305–13. - PubMed
    1. Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. Dis. Colon. Rectum. 1991;34:424–25. - PubMed
    1. Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Colaboratory Group on HNPCC. Gastroenterology. 1999;116:1453–56. - PubMed
    1. Miyaki M, Konishi M, Tanaka K, Kikuchi-Yanoshita R, Muraoka M, Yasuno M, Igari T, Koike M, Chiba M, Mori T. Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet. 1997;17:271–72. - PubMed

LinkOut - more resources