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

Holly Russell, Kasia Kedzierska, Daniel D Buchanan, Rachael Thomas, Emma Tham, Miriam Mints, Anne Keränen, Graham G. Giles, Melissa C. Southey, Roger L. Milne, Ian Tomlinson, David Church, Amanda B. Spurdle, Tracy A. O’Mara, Annabelle Lewis
January, 2021
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rs1800734 shows no evidence of association with endometrial cancer risk, MLH1 promoter methylation or MLH1 gene expression.

Abstract

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.

Type
Journal article
Publication
Clinical Epigenetics
uterus cancer endometrial cancer methylation genetics
Kasia Kedzierska
Kasia Kedzierska
DPhil Candidate in Genomic Medicine and Statistics

I’m a computational biologists (i.e. data scientist for genomic data). My research interests include ML for computational biology, epigenomics, tumor evolution and heterogeneity. I like plotting readable figures to illustrate the point I’m making.