MLH1
HGNC ↗8 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
Universal Tumor Screening in Colorectal Cancer: Role of MMR Immunohistochemistry for Lynch Syndrome and Early-Onset CRC.
Lynch syndrome — universal tumour screening in colorectal cancer
Genetic Landscape of Lynch Syndrome in a High-Risk Serbian Cohort: Predominance of MLH1 Variants and Implications for Risk-Based Testing.
Lynch syndrome
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
Mismatch Repair Deficiency in Upper Gastrointestinal and Pancreaticobiliary Cancers: Integrating Multimodal Molecular Data in Clinical Practice.
Lynch syndrome and upper gastrointestinal cancers
Real-world uptake of Lynch syndrome testing among patients with mismatch repair-deficient endometrial cancer in Québec
Lynch syndrome — endometrial cancer
Frequently asked questions
How many Geno'X publications cover the MLH1 gene?+
8 publication(s) on MLH1 have been selected, summarised and scored by Geno'X on a public grading grid (domains: Cancer genetics).