MLH1
HGNC ↗4 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
Performance of PREMM5, clinical criteria, and immunohistochemistry for MMR proteins in genetic risk assessment of Mexican patients with colorectal cancer.
Lynch syndrome and hereditary colorectal cancer predisposition
Frequently asked questions
How many Geno'X publications cover the MLH1 gene?+
4 publication(s) on MLH1 have been selected, summarised and scored by Geno'X on a public grading grid (domains: Cancer genetics).
