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Constitutional mismatch repair deficiency is a rare inherited condition in which a child has two faulty copies of a DNA spell-checking gene, one from each parent, and develops brain, blood and bowel cancers from early childhood. Six-monthly brain scans and early bowel checks find tumours sooner, and these cancers often respond to immunotherapy.
Caused by biallelic pathogenic variants in MLH1, MSH2, MSH6 or PMS2, the genes that cause Lynch syndrome in a single copy. Confers a very high, lifelong risk of haematological, brain and gastrointestinal cancers; the commonest non-cancer features are café-au-lait macules reminiscent of NF1, other pigmented patches and brain developmental venous anomalies.
The 2024 ERN GENTURIS guideline (82 recommendations, modified Delphi, 72 experts and a patient representative) sets testing criteria, diagnostic criteria and surveillance: clinical examination every six months; brain MRI every six months in childhood (both prospective cohorts that evaluated earlier protocols support this interval) and annually from age 20; colonoscopy from age 6 with upper endoscopy and capsule endoscopy started at the same time, at intervals of no more than a year, shortening to about six months once polyps are found; whole-body MRI optional. Prospective C4CMMRD and IRRDC cohorts showed a survival benefit for those under surveillance. Temozolomide is no longer recommended; checkpoint immunotherapy should be considered front-line for high-grade glioma and is recommended front-line for large, unresectable or metastatic colorectal tumours.
In plain words · MLH1 (DNA mismatch repair protein Mlh1) is a gene. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Ovarian cancer, Endometrial cancer and 4 more.
Showing the target this term concerns: MLH1.
Shares Inherited susceptibility to acute lymphoblastic leukaemia (PAX5, ETV6, IKZF1), Colonoscopy, Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Inherited susceptibility to acute lymphoblastic leukaemia (PAX5, ETV6, IKZF1), Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Colonoscopy, Hereditary cancer syndromes, Germline (hereditary) testing, Colorectal cancer and the tag hereditary.
Shares Whole-body MRI, Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Capsule endoscopy (PillCam, EndoCapsule, CapsoCam), Colonoscopy, Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Colonoscopy, Hereditary cancer syndromes, Germline (hereditary) testing, Colorectal cancer and the tag hereditary.
Shares Colonoscopy, Hereditary cancer syndromes, Germline (hereditary) testing, Colorectal cancer and the tag hereditary.
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