- Cumulative adenoma count
- Lifetime total across all colonoscopies — the number that drives germline testing thresholds (≥20 recommended, 10–19 suggested).
- Multigene panel testing (MGPT)
- Germline NGS panel. ACG 2026 minimum gene set: APC, AXIN2, BMPR1A, EPCAM, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, POLD1, POLE, PMS2, PTEN, SMAD4, STK11.
- FAP / attenuated FAP
- Autosomal dominant APC syndromes. Classic FAP: >100 adenomas, onset in teens; AFAP: 10–100 adenomas, later onset, right-sided predominance.
- MUTYH-associated polyposis (MAP)
- Autosomal recessive (biallelic MUTYH). Typically 10–100 adenomas, onset 40s–50s; monoallelic carriers have modestly elevated CRC risk.
- Polymerase proofreading-associated polyposis (PPAP)
- Autosomal dominant POLE/POLD1 exonuclease-domain variants; oligo-polyposis with early CRC, endometrial and other tumors.
- Colonic polyposis of uncertain etiology (CPUE)
- Polyposis phenotype with a negative germline panel. Consider APC mosaicism testing; manage by cumulative colorectal and duodenal adenoma burden.
- Spigelman stage
- Duodenal polyposis score from polyp number, size, histology and dysplasia (1–3 points each). Stage 0 = 0, I = 1–4, II = 5–6, III = 7–8, IV = 9–12.
- CHRPE
- Congenital hypertrophy of the retinal pigment epithelium. Bilateral or multifocal lesions are an extracolonic FAP feature that triggers testing.
- Cribriform-morular thyroid carcinoma (CMTC)
- Rare thyroid cancer strongly associated with APC variants; formerly 'cribriform-morular variant of papillary thyroid carcinoma'.
- Desmoid tumor
- Locally aggressive fibromatosis; occurs in ~10–30% of FAP, often intra-abdominal after surgery. A personal history triggers germline testing.
- Serrated polyposis syndrome (SPS)
- WHO 2019: ≥5 serrated lesions proximal to the rectum all ≥5 mm with ≥2 ≥10 mm, OR >20 serrated lesions of any size throughout the colon (≥5 proximal). Surveillance usually every 1–3 years.