Author

S. Thorn

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Open access Sep 2026

Heterozygous germline mutations in MSH3, and probably MLH3, act as classical tumour suppressors, leading to excess somatic deletion mutations, signature ID4 and increased colorectal cancer risk.

BACKGROUND MSH3 and MLH3 are non-canonical DNA mismatch repair genes, involved in repairing insertion-deletion mutations. Colorectal cancer (CRC) and adenomas have been reported in patients with bi-allelic germline MSH3 mutations, and in a very few bi-allelic MLH3 mutation carriers. OBJECTIVES We hypothesised that ge...

I. Soriano, K. Sherwood, Joseph C. Ward et al. · Gut · 0 citations

Open access Aug 2026

DNA methylation signatures of sporadic colorectal cancer with microsatellite instability

ABSTRACT Colorectal cancer (CRC) is a heterogeneous disease shaped by genetic and epigenetic alterations. Approximately 20% of CRCs exhibit widespread CpG island hypermethylation, termed the CpG Island Methylator Phenotype (CIMP), frequently accompanied by MLH1 promoter hypermethylation, deficient mismatch repair (dMMR...

Rebecca Ward, Molly Endicott, B. Mallabar-Rimmer et al. · Epigenetics · 0 citations