Autoszomális recesszív
Caused by changes in both copies of NTHL1, a DNA repair enzyme in the base excision repair pathway. A recurrent nonsense variant (p.Gln90*) accounts for many cases. People with one altered copy can also develop colon polyps or cancer, but less often than people with two: in one review, 15% had polyps and 18% had colon cancer.
Tünetek és jelek
Multiple colorectal adenomas (polyps), with an increased lifetime risk of bowel cancer. Breast and endometrial cancers are also more common. Less often there are other tumours, and some people develop several different cancers.
Mit változtat a diagnózis
Regular colonoscopy from early adulthood allows polyps to be removed; breast and other cancer screening may be considered. Brothers and sisters have a 1 in 4 chance of being affected, so genetic counselling and testing of relatives are recommended.
Vizsgált gének
