Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea

We present a case of an endometrial cancer patient with germline mutation in MutS homolog 6 (MSH6), associated with Lynch syndrome. A 60-year-old Korean woman had a personal history of colon cancer 23 years ago. She also had a family history of endometrial cancer and colon cancer of her sisters and...

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Autores principales: Lee, Hyun Jung, Lee, Min Hee, Choi, Min Chul, Jung, Sang Geun, Joo, Won Duk, Kim, Tae Hoen, Lee, Chan, Jang, Ja-Hyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Menopause 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5432470/
https://www.ncbi.nlm.nih.gov/pubmed/28523262
http://dx.doi.org/10.6118/jmm.2017.23.1.69
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author Lee, Hyun Jung
Lee, Min Hee
Choi, Min Chul
Jung, Sang Geun
Joo, Won Duk
Kim, Tae Hoen
Lee, Chan
Jang, Ja-Hyun
author_facet Lee, Hyun Jung
Lee, Min Hee
Choi, Min Chul
Jung, Sang Geun
Joo, Won Duk
Kim, Tae Hoen
Lee, Chan
Jang, Ja-Hyun
author_sort Lee, Hyun Jung
collection PubMed
description We present a case of an endometrial cancer patient with germline mutation in MutS homolog 6 (MSH6), associated with Lynch syndrome. A 60-year-old Korean woman had a personal history of colon cancer 23 years ago. She also had a family history of endometrial cancer and colon cancer of her sisters and brothers. Immunohistochemistry was negative for MutL homolog 1 (MLH1) and positive for MutS homolog 2 (MSH2). Based on these findings, she underwent genetic counseling and testing that revealed a frameshift germline mutation at MSH6 (c. 3261dupC).
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spelling pubmed-54324702017-05-18 Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea Lee, Hyun Jung Lee, Min Hee Choi, Min Chul Jung, Sang Geun Joo, Won Duk Kim, Tae Hoen Lee, Chan Jang, Ja-Hyun J Menopausal Med Case Report We present a case of an endometrial cancer patient with germline mutation in MutS homolog 6 (MSH6), associated with Lynch syndrome. A 60-year-old Korean woman had a personal history of colon cancer 23 years ago. She also had a family history of endometrial cancer and colon cancer of her sisters and brothers. Immunohistochemistry was negative for MutL homolog 1 (MLH1) and positive for MutS homolog 2 (MSH2). Based on these findings, she underwent genetic counseling and testing that revealed a frameshift germline mutation at MSH6 (c. 3261dupC). The Korean Society of Menopause 2017-04 2017-04-28 /pmc/articles/PMC5432470/ /pubmed/28523262 http://dx.doi.org/10.6118/jmm.2017.23.1.69 Text en Copyright © 2017 by The Korean Society of Menopause http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/).
spellingShingle Case Report
Lee, Hyun Jung
Lee, Min Hee
Choi, Min Chul
Jung, Sang Geun
Joo, Won Duk
Kim, Tae Hoen
Lee, Chan
Jang, Ja-Hyun
Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea
title Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea
title_full Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea
title_fullStr Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea
title_full_unstemmed Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea
title_short Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea
title_sort case report of menopausal woman diagnosed with endometrial cancer after colon cancer with germline mutation in msh6 in korea
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5432470/
https://www.ncbi.nlm.nih.gov/pubmed/28523262
http://dx.doi.org/10.6118/jmm.2017.23.1.69
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