- Abstract:
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Expression of the mismatch repair gene MutL homolog 1 (MLH1) is silenced in a clinically important subgroup of sporadic colorectal cancers. These cancers exhibit hypermutability with microsatellite instability (MSI) and differ from microsatellite-stable (MSS) colorectal cancers in both prognosis and response to therapies. Loss of MLH1 is usually due to epigenetic silencing with associated promoter methylation; coding somatic mutations rarely occur. Here we use the presence of a colorectal can...
Expand abstract - Publication status:
- Published
- Peer review status:
- Peer reviewed
- Version:
- Publisher's Version
- Files:
-
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(pdf, 2.7mb)
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- Publisher copy:
- 10.1038/s41598-019-49952-x
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- Publisher:
- Nature Research Publisher's website
- Journal:
- Scientific Reports Journal website
- Volume:
- 9
- Issue:
- 1
- Pages:
- Article: 13463
- Publication date:
- 2019-09-17
- Acceptance date:
- 2019-08-29
- DOI:
- EISSN:
-
2045-2322
- Pubs id:
-
pubs:1054592
- URN:
-
uri:8a5ed646-d962-42f2-b725-1cd9e9547517
- UUID:
-
uuid:8a5ed646-d962-42f2-b725-1cd9e9547517
- Local pid:
- pubs:1054592
- Language:
- English
- Keywords:
- Copyright holder:
- Thomas et al.
- Copyright date:
- 2019
- Notes:
- Copyright © The Author(s) 2019. 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/.
Journal article
The polymorphic variant rs1800734 influences methylation acquisition and allele-specific TFAP4 binding in the MLH1 promoter leading to differential mRNA expression.
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