A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer

Lynch syndrome is a genetic disorder related to cancer predisposition, including colorectal cancer, endometrial cancer, and ovarian cancer. Germline mutations in mismatch repair genes, including MLH1, MSH2, MSH6, and PMS2, are responsible for this condition. Cancer tissue specimens resected from sma...

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Autores principales: Akizawa, Yoshika, Yamamoto, Toshiyuki, Tamura, Kazuo, Kanno, Toshiyuki, Takahashi, Nobuko, Ohki, Takeshi, Omori, Teppei, Tokushige, Katsutoshi, Yamamoto, Masakazu, Saito, Kayoko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6013486/
https://www.ncbi.nlm.nih.gov/pubmed/30083359
http://dx.doi.org/10.1038/s41439-018-0013-y
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author Akizawa, Yoshika
Yamamoto, Toshiyuki
Tamura, Kazuo
Kanno, Toshiyuki
Takahashi, Nobuko
Ohki, Takeshi
Omori, Teppei
Tokushige, Katsutoshi
Yamamoto, Masakazu
Saito, Kayoko
author_facet Akizawa, Yoshika
Yamamoto, Toshiyuki
Tamura, Kazuo
Kanno, Toshiyuki
Takahashi, Nobuko
Ohki, Takeshi
Omori, Teppei
Tokushige, Katsutoshi
Yamamoto, Masakazu
Saito, Kayoko
author_sort Akizawa, Yoshika
collection PubMed
description Lynch syndrome is a genetic disorder related to cancer predisposition, including colorectal cancer, endometrial cancer, and ovarian cancer. Germline mutations in mismatch repair genes, including MLH1, MSH2, MSH6, and PMS2, are responsible for this condition. Cancer tissue specimens resected from small bowel adenocarcinoma in a Japanese patient showed decreased expression of MLH1 and PMS2 by immunohistochemistry testing. Finally, a novel MLH1 mutation, c.1833dup, was identified in this patient.
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spelling pubmed-60134862018-08-06 A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer Akizawa, Yoshika Yamamoto, Toshiyuki Tamura, Kazuo Kanno, Toshiyuki Takahashi, Nobuko Ohki, Takeshi Omori, Teppei Tokushige, Katsutoshi Yamamoto, Masakazu Saito, Kayoko Hum Genome Var Data Report Lynch syndrome is a genetic disorder related to cancer predisposition, including colorectal cancer, endometrial cancer, and ovarian cancer. Germline mutations in mismatch repair genes, including MLH1, MSH2, MSH6, and PMS2, are responsible for this condition. Cancer tissue specimens resected from small bowel adenocarcinoma in a Japanese patient showed decreased expression of MLH1 and PMS2 by immunohistochemistry testing. Finally, a novel MLH1 mutation, c.1833dup, was identified in this patient. Nature Publishing Group UK 2018-06-21 /pmc/articles/PMC6013486/ /pubmed/30083359 http://dx.doi.org/10.1038/s41439-018-0013-y Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Akizawa, Yoshika
Yamamoto, Toshiyuki
Tamura, Kazuo
Kanno, Toshiyuki
Takahashi, Nobuko
Ohki, Takeshi
Omori, Teppei
Tokushige, Katsutoshi
Yamamoto, Masakazu
Saito, Kayoko
A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer
title A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer
title_full A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer
title_fullStr A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer
title_full_unstemmed A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer
title_short A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer
title_sort novel mlh1 mutation in a japanese family with lynch syndrome associated with small bowel cancer
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6013486/
https://www.ncbi.nlm.nih.gov/pubmed/30083359
http://dx.doi.org/10.1038/s41439-018-0013-y
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