NTHL1 germline biallelic pathogenic variants
Deterministische Ansicht der Quelle YAML Entität. Klinische Autorität bleibt mit den zitierten Quell-IDs und Rezensenten Sign-off Zustand.
| ID | BIO-NTHL1-GERMLINE |
|---|---|
| Art | Biomarker |
| Aliase | NTHL1 germline pathogenic variant (biallelic)NTHL1 germline біалельні патогенні варіанти |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Erkrankungen | DIS-CRC |
| Quellen | SRC-NCCN-GENETIC-FAMILIAL-CRC-2025 |
Biomarker-Fakten
| Biomarker-Typ | gene_mutation |
|---|---|
| Angaben zur Mutation | {"functional_impact": "loss_of_function", "gene": "NTHL1", "gene_hugo_id": "HGNC:8028", "variant_type": "missense_or_truncating"} |
| Verwandte Biomarker | None declared |
Anmerkungen
NTHL1 germline biallelic — drives NTHL1-associated polyposis / NTHL1 tumor syndrome (autosomal recessive). Base-excision-repair defect → C>T mutational signature, adenomatous polyposis + early CRC, breast cancer (~67% lifetime in females), endometrial, urothelial, head/neck, and other primaries (multiple primary tumours frequent). Surveillance: colonoscopy from late teens, breast MRI for female carriers, dermatologic + urinary. Heterozygotes near population risk. STUB pending two-Co-Lead signoff.
Verwendet von
Therapeutische Relevanz
BMA-NTHL1-GERMLINE-NAP-BIALLELIC- NTHL1 keimlinienbiallelic (homozygot oder zusammengesetzt heterozygot) pathogene Varianten verursachen...