NTHL1
Associated conditions:
- Colorectal cancer
NTHL1 makes a protein that fixes DNA damaged by oxidation, part of the everyday repair system that prevents mistakes building up. Genetic changes in this gene are associated with an autosomal recessive syndrome of bowel polyps and a raised risk of colorectal and other cancers when both copies are altered; a single carrier copy is not associated with an increased risk but matters for family planning. Knowing your genetic status enables regular bowel surveillance for those affected.
Conditions linked to NTHL1
Colorectal cancer
Colorectal cancer develops in the colon or rectum, usually from polyps that turn cancerous over years. An inherited predisposition raises lifetime risk and shifts it earlier, so it is highly preventable with earlier, more frequent colonoscopy that finds and removes polyps before they progress.
