MLH1
HGNC ↗3 article(s) in the watch · Cancer genetics
MLH1 is a DNA mismatch-repair (MMR) gene. Germline pathogenic MLH1 variants are a major cause of Lynch syndrome (HNPCC), an autosomal-dominant predisposition to colorectal and endometrial cancer, associated with tumour microsatellite instability.
Curated publications
Clinical and Genetic Characterization of Constitutional MLH1 Promoter Hypermethylation: Implications for Lynch Syndrome Diagnosis.
Lynch syndrome due to constitutional MLH1 promoter hypermethylation
The germline MLH1 c.2054 C>T mutation disrupts DNA mismatch repair and is detectable by digital PCR.
Lynch syndrome
Gene-specific cancer risks in female Lynch syndrome carriers: A copula-based meta-analysis
Lynch syndrome — gene-specific cancer risks in female carriers