Overview

Location [1]
5q22.2
Pathway
Beta-Catenin/WNT signaling
Protein [2]
Adenomatous polyposis coli protein
Synonyms [1]
DP2, BTPS2, DP3, PPP1R46, GS, DP2.5

Adenomatous polyposis coli (APC) is a gene that encodes a tumor suppressor protein that is involved in the β-Catenin/Wnt signaling pathway. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions are observed in cancers such as intestinal cancer, stomach cancer, and thymus cancer.

APC is altered in 9.30% of all cancers with colon adenocarcinoma, colorectal adenocarcinoma, rectal adenocarcinoma, lung adenocarcinoma, and prostate adenocarcinoma having the greatest prevalence of alterations [3].

APC GENIE Cases - Top Diseases

The most common alterations in APC are APC Mutation (13.79%), APC R1450* (0.73%), APC R876* (0.60%), APC T1556Nfs*3 (0.54%), and APC E1309Dfs*4 (0.42%) [3].

APC GENIE Cases - Top Alterations

Significance of APC in Diseases

Medulloblastoma +

Familial Adenomatous Polyposis +

Medulloblastoma, Non-WNT/Non-SHH +

Anaplastic Astrocytoma +

Glioblastoma +

Central Nervous System Embryonal Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Desmoplastic/Nodular Medulloblastoma +

Large Cell/Anaplastic Medulloblastoma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Colorectal Carcinoma +

Malignant Solid Tumor +

Melanoma +

Anaplastic Oligodendroglioma +

Bladder Carcinoma +

Esophageal Adenocarcinoma +

Gastric Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Malignant Glioma +

Diffuse Glioma +

Lymphoma +

Ovarian Carcinoma +

Sarcoma +

Breast Carcinoma +

Pancreatic Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Ependymoma +

Anaplastic Oligodendroglioma, IDH-Mutant And 1p/19q-Codeleted +

Anaplastic Pleomorphic Xanthoastrocytoma +

Atypical Teratoid/Rhabdoid Tumor +

Diffuse Midline Glioma, H3 K27M-Mutant +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma +

Ependymoma, RELA Fusion-Positive +

Esophageal Squamous Cell Carcinoma +

Gastric Squamous Cell Carcinoma +

Head And Neck Carcinoma +

High-Grade Glioma, NOS +

Intracranial Primitive Neuroectodermal Neoplasm +

Medulloblastoma, SHH-Activated +

Pineoblastoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.