Gene Information
APC regulator of WNT signaling pathway [Source:HGNC Symbol;Acc:HGNC:583]
APC variants are associated with 5 diseases including attenuated familial adenomatous polyposis and Cenani-Lenz syndactyly syndrome and 3 others, with 53 documented clinical phenotypes.
The APC gene is associated with 5 medical conditions, including:
Research has identified 53 phenotypic features associated with APC variants:
Small intestine carcinoid
HP:0006722
Hereditary nonpolyposis colorectal carcinoma
HP:0006716
Colorectal polyposis
HP:0200063
Transitional cell carcinoma of the bladder
HP:0006740
Stomach cancer
HP:0012126
Congenital hypertrophy of retinal pigment epithelium
HP:0007649
Abdominal pain
HP:0002027
Young adult onset
HP:0011462
Uterine leiomyosarcoma
HP:0002891
Supernumerary tooth
HP:0011069
Colon cancer
HP:0003003
Keloids
HP:0010562
Multiple gastric polyps
HP:0004394
Osteoma
HP:0100246
Melena
HP:0002249
ClinVar contains 10 variants associated with APC. Below are some notable variants:
NM_000038.6(APC):c.1171del (p.Ile391fs)
PathogenicVCV004527658
Review: criteria provided, single submitter
NM_000038.6(APC):c.947_948dup (p.Ser317fs)
PathogenicVCV004525789
Review: criteria provided, single submitter
NM_000038.6(APC):c.5026dup (p.Arg1676fs)
PathogenicVCV004294255
Review: criteria provided, single submitter
NM_000038.6(APC):c.2055_2065delinsAAT (p.Trp685_Ala689delinsTer)
Likely pathogenicVCV004293618
Review: criteria provided, single submitter
NM_000038.6(APC):c.939A>C (p.Glu313Asp)
Uncertain significanceVCV004282294
Review: criteria provided, single submitter
There are 11,789 publications about APC indexed in PubMed. Below are some recent papers:
Automated real-time imaging of intestinal barrier integrity and molecular profiling for early outcome prediction in inflammatory bowel disease - Endo-Histo-Barrier-Omics study.
Iacucci M, Majumder S, Zammarchi I
PMID: 41259666
•
2025 Nov 19
•
J Crohns Colitis
Cancer Incidence and Mortality Estimates in Latin America and the Caribbean: A Systematic Analysis of the GLOBOCAN 2022.
Leite LF, da Conceição LD, Saldanha EF
PMID: 41259656
•
2025 Nov 19
•
Cancer Res Commun
Differential impacts of grazing on vegetation patterning in drylands: A comparative study.
Sahoo K, Koley J, Ghorai S
PMID: 41258803
•
2025 Nov 1
•
Chaos
Global trends in prostate cancer burden among adults aged 80 years and older from 1990 to 2021 based on the global burden of disease 2021.
Zhu X, Zhou Y, Yang X
PMID: 41258591
•
2025 Nov 12
•
Discov Oncol
Robotic-assisted treatment of flank hernias with progressive intracorporeal fascial traction (PIFT): A novel technique for secure fascial adaptation.
Hannebauer A, Al-Mawsheki A, Bockhorn M
PMID: 41258167
•
2025 Nov 19
•
Hernia
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Trusted Data Sources
Last updated: 11/20/2025