Classic or attenuated familial adenomatous polyposis: genes and variants
Classic or attenuated familial adenomatous polyposis is linked to 2 analyzed proteins (MUTYH and APC). 1 DNA variants are known to cause it; 281 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Classic or attenuated familial adenomatous polyposis
MUTYH: Adenine DNA glycosylase
It removes adenines incorrectly paired with oxidized guanine, preventing characteristic G:C-to-T:A mutations during base-excision repair. Biallelic loss-of-function variants cause MUTYH-associated polyposis and substantially increase colorectal-cancer risk.
1 disease-causing and 0 uncertain variants in MUTYH are linked to Classic or attenuated familial adenomatous polyposis.
APC: Adenomatous polyposis coli protein
A tumor-suppressor protein that promotes the removal of beta-catenin and helps keep Wnt signaling under control. It also organizes microtubules and actin in the cell, and inherited APC disruption is strongly associated with familial adenomatous polyposis and colorectal tumor risk.
0 disease-causing and 281 uncertain variants in APC are linked to Classic or attenuated familial adenomatous polyposis.
Known disease-causing variants in Classic or attenuated familial adenomatous polyposis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MUTYH Y176C | 176 | Disease-causing (★★) |
Same protein, different disease
- Familial adenomatous polyposis is also caused by MUTYH variants; they fall mostly in different places as the Classic or attenuated familial adenomatous polyposis variants (27 disease-causing).
- Gastric cancer is also caused by MUTYH variants; they fall mostly in different places as the Classic or attenuated familial adenomatous polyposis variants (11 disease-causing).
Diseases related to Classic or attenuated familial adenomatous polyposis
- Familial adenomatous polyposis, also linked to APC and MUTYH
- Colorectal cancer, also linked to APC and MUTYH
- Gastric cancer, also linked to APC and MUTYH
- Ovarian cancer, also linked to APC
- Pilomatrixoma, also linked to MUTYH
- Hepatocellular carcinoma, also linked to APC
- Neoplasm of stomach, also linked to MUTYH
- Inherited polyposis and early onset colorectal cancer - germline testing, also linked to MUTYH
- Diffuse midline glioma, H3 K27-altered, also linked to MUTYH
- Desmoid disease, hereditary, also linked to APC
- Familial colorectal cancer, also linked to MUTYH
- Dysembryoplastic neuroepithelial tumor, also linked to MUTYH
Frequently asked questions
Which genes are linked to Classic or attenuated familial adenomatous polyposis?
In CATVariant, Classic or attenuated familial adenomatous polyposis is linked to 2 analyzed proteins: MUTYH (Adenine DNA glycosylase) and APC (Adenomatous polyposis coli protein).
How many genetic variants are linked to Classic or attenuated familial adenomatous polyposis?
284 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 281 are of uncertain significance or have conflicting reports.
Which uncertain variants in Classic or attenuated familial adenomatous polyposis look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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