AXIN2 germline pathogenic variants cause a Lynch-like attenuated polyposis + oligodontia...
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BMA-AXIN2-GERMLINE-CRC-OLIGODONTIA |
|---|---|
| Type | Actionability |
| Status | reviewed 2026-05-18 | pending_clinical_signoff | actionability review required |
| Diseases | DIS-CRC |
| Sources | SRC-NCCN-GENETIC-FAMILIAL-CRC-2025 |
Actionability Facts
| Biomarker | BIO-AXIN2-GERMLINE |
|---|---|
| Variant | AXIN2 germline pathogenic (oligodontia–colorectal cancer syndrome) |
| Disease | DIS-CRC |
| ESCAT tier | IIA |
| Recommended combinations | colonoscopy q1-2y starting age 25 (or 10y before earliest family CRC), polypectomy of all adenomas, consider EGD q3-5y from age 40 (mixed evidence — duodenal adenomas reported but rarer than FAP), dental record review at intake — oligodontia + family CRC = AXIN2 workup, cascade testing to first-degree relatives |
| Evidence summary | AXIN2 germline pathogenic variants cause a Lynch-like attenuated polyposis + oligodontia syndrome (Lammi et al. 2004) — characterized by congenital absence of multiple permanent teeth (oligodontia, often >6 teeth), early- onset adenomas, attenuated polyposis (typically <100 adenomas), and elevated colorectal cancer risk. AXIN2 is a WNT-pathway tumor suppressor; loss stabilizes β-catenin. Confirmed-carrier surveillance protocol follows attenuated FAP / Lynch-like template: colonoscopy q1-2y starting age 25 (or 10y before earliest family CRC), with polypectomy of all detected adenomas; if adenoma burden grows beyond endoscopic management, surgical consultation. Cascade testing to first-degree relatives. Oligodontia is a useful clinical flag — dental record review may identify undiagnosed carriers. ESCAT IIA. |
Notes
STUB — Wave A+B germline expansion. Linked Indication: IND-LYNCH-CARRIER- SURVEILLANCE used as closest-fit surveillance template (Lynch-like cadence, no AXIN2-specific Indication exists yet). Two-Clinical-Co-Lead signoff queued. AXIN2 syndrome is rare (~25 families reported) — penetrance + cancer spectrum estimates remain provisional; treat surveillance as attenuated-FAP / Lynch-overlap pragmatic protocol pending more data.
Used By
No reverse references found in the YAML corpus.