The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability

Both colorectal (CRC, 15%) and endometrial cancers (EC, 30%) exhibit microsatellite instability (MSI) due to MLH1 hypermethylation and silencing. The MLH1 promoter polymorphism, rs1800734 is associated with MSI CRC risk, increased methylation and reduced MLH1 expression. In EC samples, we investigat...

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Autores principales: Russell, Holly, Kedzierska, Katarzyna, Buchanan, Daniel D., Thomas, Rachael, Tham, Emma, Mints, Miriam, Keränen, Anne, Giles, Graham G., Southey, Melissa C., Milne, Roger L., Tomlinson, Ian, Church, David, Spurdle, Amanda B., O’Mara, Tracy A., Lewis, Annabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7346630/
https://www.ncbi.nlm.nih.gov/pubmed/32641106
http://dx.doi.org/10.1186/s13148-020-00889-3
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author Russell, Holly
Kedzierska, Katarzyna
Buchanan, Daniel D.
Thomas, Rachael
Tham, Emma
Mints, Miriam
Keränen, Anne
Giles, Graham G.
Southey, Melissa C.
Milne, Roger L.
Tomlinson, Ian
Church, David
Spurdle, Amanda B.
O’Mara, Tracy A.
Lewis, Annabelle
author_facet Russell, Holly
Kedzierska, Katarzyna
Buchanan, Daniel D.
Thomas, Rachael
Tham, Emma
Mints, Miriam
Keränen, Anne
Giles, Graham G.
Southey, Melissa C.
Milne, Roger L.
Tomlinson, Ian
Church, David
Spurdle, Amanda B.
O’Mara, Tracy A.
Lewis, Annabelle
author_sort Russell, Holly
collection PubMed
description Both colorectal (CRC, 15%) and endometrial cancers (EC, 30%) exhibit microsatellite instability (MSI) due to MLH1 hypermethylation and silencing. The MLH1 promoter polymorphism, rs1800734 is associated with MSI CRC risk, increased methylation and reduced MLH1 expression. In EC samples, we investigated rs1800734 risk using MSI and MSS cases and controls. We found no evidence that rs1800734 or other MLH1 SNPs were associated with the risk of MSI EC. We found the rs1800734 risk allele had no effect on MLH1 methylation or expression in ECs. We propose that MLH1 hypermethylation occurs by different mechanisms in CRC and EC.
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spelling pubmed-73466302020-07-14 The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability Russell, Holly Kedzierska, Katarzyna Buchanan, Daniel D. Thomas, Rachael Tham, Emma Mints, Miriam Keränen, Anne Giles, Graham G. Southey, Melissa C. Milne, Roger L. Tomlinson, Ian Church, David Spurdle, Amanda B. O’Mara, Tracy A. Lewis, Annabelle Clin Epigenetics Short Report Both colorectal (CRC, 15%) and endometrial cancers (EC, 30%) exhibit microsatellite instability (MSI) due to MLH1 hypermethylation and silencing. The MLH1 promoter polymorphism, rs1800734 is associated with MSI CRC risk, increased methylation and reduced MLH1 expression. In EC samples, we investigated rs1800734 risk using MSI and MSS cases and controls. We found no evidence that rs1800734 or other MLH1 SNPs were associated with the risk of MSI EC. We found the rs1800734 risk allele had no effect on MLH1 methylation or expression in ECs. We propose that MLH1 hypermethylation occurs by different mechanisms in CRC and EC. BioMed Central 2020-07-08 /pmc/articles/PMC7346630/ /pubmed/32641106 http://dx.doi.org/10.1186/s13148-020-00889-3 Text en © The Author(s) 2020 Open AccessThis 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Short Report
Russell, Holly
Kedzierska, Katarzyna
Buchanan, Daniel D.
Thomas, Rachael
Tham, Emma
Mints, Miriam
Keränen, Anne
Giles, Graham G.
Southey, Melissa C.
Milne, Roger L.
Tomlinson, Ian
Church, David
Spurdle, Amanda B.
O’Mara, Tracy A.
Lewis, Annabelle
The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability
title The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability
title_full The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability
title_fullStr The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability
title_full_unstemmed The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability
title_short The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability
title_sort mlh1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability
topic Short Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7346630/
https://www.ncbi.nlm.nih.gov/pubmed/32641106
http://dx.doi.org/10.1186/s13148-020-00889-3
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