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Article

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

Clinical epigenetics - 8 Jul 2020

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

Abstract excerpt

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...

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Source

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Identifiers

PMID: 32641106
DOI: 10.1186/s13148-020-00889-3
PMCID: PMC7346630

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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