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The polymorphic variant rs1800734 influences methylation acquisition and allele-specific TFAP4 binding in the MLH1 promoter leading to differential mRNA expression.

Abstract:

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...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/s41598-019-49952-x

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Role:
Author
ORCID:
0000-0001-7330-4804
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Publisher:
Nature Research Publisher's website
Journal:
Scientific Reports Journal website
Volume:
9
Issue:
1
Article number:
13463
Publication date:
2019-09-17
Acceptance date:
2019-08-29
DOI:
EISSN:
2045-2322
Pmid:
31530880
Source identifiers:
1054592
Language:
English
Keywords:
Pubs id:
pubs:1054592
UUID:
uuid:8a5ed646-d962-42f2-b725-1cd9e9547517
Local pid:
pubs:1054592
Deposit date:
2019-10-11

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