Overview

Location [1]
5q22.2
Pathway
Beta-Catenin/WNT signaling
Synonyms [1]
DP2, DP2.5, PPP1R46, GS, DP3, DESMD, BTPS2

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.

Significance of APC in Diseases

Medulloblastoma +

Familial Adenomatous Polyposis +

Medulloblastoma, Non-WNT/Non-SHH +

Medulloblastoma, WNT-Activated +

Anaplastic Astrocytoma +

Central Nervous System Embryonal Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Desmoplastic/Nodular Medulloblastoma +

Glioblastoma +

Large Cell/Anaplastic Medulloblastoma +

Medulloblastoma With Extensive Nodularity +

Medulloepithelioma +

Adenocarcinoma Of The Gastroesophageal Junction +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Ependymoma +

Anaplastic Oligodendroglioma +

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

Anaplastic Pleomorphic Xanthoastrocytoma +

Atypical Teratoid/Rhabdoid Tumor +

Bladder Carcinoma +

Breast Carcinoma +

Colorectal Carcinoma +

Diffuse Glioma +

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 Adenocarcinoma +

Esophageal Squamous Cell Carcinoma +

Gastric Adenocarcinoma +

Gastric Squamous Cell Carcinoma +

Head And Neck Carcinoma +

High-Grade Glioma, NOS +

Intracranial Primitive Neuroectodermal Neoplasm +

Lymphoma +

Malignant Glioma +

Malignant Solid Tumor +

Medulloblastoma, SHH-Activated +

Melanoma +

Non-Small Cell Lung Carcinoma +

Ovarian Carcinoma +

Pancreatic Carcinoma +

Pineoblastoma +

Sarcoma +

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 8. 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.