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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...

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Autores principales: Banno, Kouji, Yanokura, Megumi, Kobayashi, Yusuke, Kawaguchi, Makiko, Nomura, Hiroyuki, Hirasawa, Akira, Susumu, Nobuyuki, Aoki, Daisuke
Formato: Texto
Lenguaje:English
Publicado: Bentham Science Publishers Ltd. 2009
Materias:
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.
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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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