APC Gene

Alternative Names

  • APC
  • Deleted in Polyposis 2.5
  • DP2.5

Associated Diseases

Breast Cancer
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OMIM Number

611731

NCBI Gene ID

324

Uniprot ID

P25054

Length

138,742 bases

No. of Exons

20

No. of isoforms

3

Protein Name

Adenomatous polyposis coli protein

Molecular Mass

311646 Da

Amino Acid Count

2843

Genomic Location

chr5:112,707,498-112,846,239

Gene Map Locus
5q22.2

Description

This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Mutations in the APC gene have been found to occur in most colorectal cancers. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000038.6:c.2876C>T Lebanonchr5:112838470Uncertain SignificanceBreast CancerNG_008481.4:g.150950C>T; NM_000038.6:c.2876C>T; NP_000029.2:p.Ser959Phe757526267411384
NM_000038.6:c.423-4_423-2delSaudi ArabiaNC_000005.10:g.112775625_112775627delUncertain SignificanceLikely PathogenicNG_008481.4:g.88105_88107del; NM_000038.6:c.423-4_423-2del876657408411534
NM_000038.6:c.6821C>T Lebanonchr5:112842415Benign, Likely BenignUncertain SignificanceBreast CancerNG_008481.4:g.154895C>T; NM_000038.6:c.6821C>T ; NP_000029.2:p.Ala2274Val3491918741511

Other Reports

Arab

Al-Shamsi et al. 2021 delineated the somatic mutational spectrum and frequency in Arab women with breast cancer. 78 women mostly with stage 3 or 4 breast cancer exhibited mutations and mutation rates in the following genes: TP53, 23.1%; ATM, 2.6%; IDH1, 2.6%; IDH2, 3.8%; PTEN, 7.7%; PIK3CA, 15.4%; APC, 7.7%; NPM1, 2.5%; MPL, 1.3%; JAK2, 2.5%; KIT, 7.7%; KRAS, 3.8%; and NRAS, 3.8%

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