The polymorphic variant rs1800734 influences methylation acquisition and allele-specific TFAP4 binding in the MLH1 promoter leading to differential mRNA expression.
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...
Main Authors: | Thomas, R, Trapani, D, Goodyer-Sait, L, Tomkova, M, Fernandez-Rozadilla, C, Sahnane, N, Woolley, C, Davis, H, Chegwidden, L, Kriaucionis, S, Maughan, T, Leedham, S, Palles, C, Furlan, D, Tomlinson, I, Lewis, A |
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Format: | Journal article |
Language: | English |
Published: |
Nature Research
2019
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