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NTHL1-associated polyposis is a rare inherited condition in which a person has two faulty copies of the NTHL1 gene and develops many bowel polyps, bowel cancer and, in women, womb cancer. Care is planned at a specialist centre because there are too few patients for a fixed schedule.
Autosomal recessive. Weren 2015 (Nature Genetics) found a homozygous NTHL1 nonsense variant, a base-excision repair gene, in seven people from three families with adenomatous polyposis; each family progressed to colorectal cancer in at least one member, all three affected women had an endometrial malignancy or premalignancy, and the tumours were not hypermutated but enriched for cytosine-to-thymine transitions. NTHL1 is one of the multiple-adenoma genes beyond APC and MUTYH, with GREM1, POLE, POLD1 and MSH3.
BSG 2020 found insufficient data for specific guidance and recommends referral to a multidisciplinary expert centre.
In plain words · NTHL1 (Endonuclease III-like protein 1) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Colorectal cancer.
Showing the target this term concerns: NTHL1.
Shares Colonoscopy, Hereditary cancer syndromes, Germline (hereditary) testing, Endometrial cancer and the tag hereditary.
Shares Colonoscopy, Hereditary cancer syndromes, Germline (hereditary) testing, Colorectal cancer and the tag hereditary.
Shares Quest Comprehensive Hereditary Cancer Panel (66 genes), Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Colonoscopy, Hereditary cancer syndromes, Colorectal cancer and the tag hereditary.
Shares Colonoscopy, Hereditary cancer syndromes, Germline (hereditary) testing, Colorectal cancer and the tag hereditary.
Shares 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 Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
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