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Endometrial Cancer as a Familial Tumor: Pathology and Molecular Carcinogenesis (Review)
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 fam...
Autores principales: | , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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Bentham Science Publishers Ltd.
2009
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2699824/ https://www.ncbi.nlm.nih.gov/pubmed/19794885 http://dx.doi.org/10.2174/138920209787847069 |
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author | Banno, Kouji Yanokura, Megumi Kobayashi, Yusuke Kawaguchi, Makiko Nomura, Hiroyuki Hirasawa, Akira Susumu, Nobuyuki Aoki, Daisuke |
author_facet | Banno, Kouji Yanokura, Megumi Kobayashi, Yusuke Kawaguchi, Makiko Nomura, Hiroyuki Hirasawa, Akira Susumu, Nobuyuki Aoki, Daisuke |
author_sort | Banno, Kouji |
collection | PubMed |
description | 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. |
format | Text |
id | pubmed-2699824 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2009 |
publisher | Bentham Science Publishers Ltd. |
record_format | MEDLINE/PubMed |
spelling | pubmed-26998242009-10-01 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 Curr Genomics Article 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. Bentham Science Publishers Ltd. 2009-04 /pmc/articles/PMC2699824/ /pubmed/19794885 http://dx.doi.org/10.2174/138920209787847069 Text en ©2009 Bentham Science Publishers Ltd. http://creativecommons.org/licenses/by/2.5/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.5/), which permits unrestrictive use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Article 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) |
title | Endometrial Cancer as a Familial Tumor: Pathology and Molecular Carcinogenesis (Review) |
title_full | Endometrial Cancer as a Familial Tumor: Pathology and Molecular Carcinogenesis (Review) |
title_fullStr | Endometrial Cancer as a Familial Tumor: Pathology and Molecular Carcinogenesis (Review) |
title_full_unstemmed | Endometrial Cancer as a Familial Tumor: Pathology and Molecular Carcinogenesis (Review) |
title_short | Endometrial Cancer as a Familial Tumor: Pathology and Molecular Carcinogenesis (Review) |
title_sort | endometrial cancer as a familial tumor: pathology and molecular carcinogenesis (review) |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2699824/ https://www.ncbi.nlm.nih.gov/pubmed/19794885 http://dx.doi.org/10.2174/138920209787847069 |
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