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Symbol APC contributors: shn/pgu - updated : 05-05-2017
HGNC name adenomatosis polyposis coli
HGNC id 583
corresponding disease(s) CHRPE , HDD , FAP , CLSS2
related resource Adenomatous polyposis coli
Familial Adenomatous Polyposis at GeneDis
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral somatic mutation      
in prostate carcinoma
tumoral   LOH    
in pancreatoblastoma
tumoral       loss of function
in colon, thyroid, stomach, intestine cancer, hepatocellular carcinoma, in progression
constitutional     --low  
in lung carcinoma
tumoral     --other  
loss of APC through aberrant methylation is associated with the aggressive behavior of both sporadic and familial breast cancer
constitutional       loss of function
tissue-dependent consequences of APC inactivation on proliferation and differentiation of ciliated cell progenitors by coordinating WNT and NOTCH1 signaling
Susceptibility to autism spectrum disorder
Variant & Polymorphism SNP SNP 8636C>A in the 3'-untranslated region associated with autism spectrum disorder (ASD)
Candidate gene
  • APC I1307K variant is a reliable marker for overall cancer risk
  • strong associations between APC, GSTP1 and SOCS1 gene promoter methylation and the risk of HCC, suggesting these to be promising biomarkers for hepatocellular carcinoma (HCC)
  • APC promoter methylation may be the potential testing for prostate cancer diagnosis
  • Therapy target
  • Mice with Apc nonsense mutation have multiple intestinal neoplasia
  • mice with homozygous truncated mutation in Apc gene die in utero before day 8 of gestation. Heterozygous mice develop multiple polyps mostly in the small intestine
  • chain-termination mutation in exon 15 of the mouse Apc gene leads to development of intestinal tumors
  • predisposes to mammary carcinomas and focal alveolar hyperplasias in mice harboring Apc gene point mutation
  • Dpc4 mutation into the Apc(delta716) knockout mice lead to development of intestinal polyps and more malignant tumors
  • treatment of Apc delta716 mice with a novel COX-2 inhibitor reduced the polyp number suggesting that COX-2 can a therapeutic agent for colorectal polyposis and cancer
  • cells carrying a truncated APC gene (Min) are defective in chromosome segregation
  • COX-2 inhibits intestinal polyps in Apc(Delta716) mice and may be useful as chemopreventive and therapeutic agents in humans at risk for colorectal neoplasia
  • mouse embryonic stem cells homozygous for multiple intestinal neoplasia or Apc1638T alleles display extensive chromosome and spindle aberrations
  • Apc+/Delta716 Cdx2+/- compound mutant mice develop six times more adenomatous polyps
  • zebrafish with truncation of apc gene have excessive endocardial cushions
  • BubR1(+/-)Apc(Min)(/+) compound mutant mice develop ten times more colonic tumors
  • Apc-deficient zebrafish display developmental abnormalities of both the lens and retina
  • rat carrying a knockout allele in apc gene develops multiple neoplasms with a distribution between the colon and small intestine
  • simultaneous deletion of both Apc and Myc in the adult murine small intestine rescued the phenotypes of perturbed differentiation, migration, proliferation and apoptosis, which occur on deletion of Apc
  • hematopoietic system of mice with the Apc(min) allele showed no abnormality in steady state hematopoiesis, bone marrow from Apc(min) mice showed enhanced repopulation potential but was unable to repopulate secondary recipients because of loss of the quiescent HSC population