The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability.
Alleles
DNA Methylation
Endometrial Neoplasms
/ diagnosis
Epigenomics
/ methods
Female
Gene Silencing
Humans
Meta-Analysis as Topic
Microsatellite Instability
MutL Protein Homolog 1
/ genetics
Polymorphism, Single Nucleotide
/ genetics
Promoter Regions, Genetic
/ genetics
RNA, Messenger
/ genetics
Risk Assessment
Endometrial cancer
MLH1
Microsatellite instability
Mismatch repair pathway
Single nucleotide polymorphism
rs1800734
Journal
Clinical epigenetics
ISSN: 1868-7083
Titre abrégé: Clin Epigenetics
Pays: Germany
ID NLM: 101516977
Informations de publication
Date de publication:
08 07 2020
08 07 2020
Historique:
received:
25
03
2020
accepted:
23
06
2020
entrez:
10
7
2020
pubmed:
10
7
2020
medline:
19
8
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 32641106
doi: 10.1186/s13148-020-00889-3
pii: 10.1186/s13148-020-00889-3
pmc: PMC7346630
doi:
Substances chimiques
MLH1 protein, human
0
RNA, Messenger
0
MutL Protein Homolog 1
EC 3.6.1.3
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
102Subventions
Organisme : Wellcome Trust
ID : 090532/Z/09/Z
Pays : United Kingdom
Organisme : Cancer Research UK
ID : C26642/A27963
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/P000738/2
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/P000738/1
Pays : United Kingdom
Commentaires et corrections
Type : ErratumIn
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