Overview

Location [1]
3p22.1
Pathway
Beta-Catenin/WNT signaling
Protein [2]
Catenin beta-1
Synonyms [1]
CTNNB, MRD19, EVR7, armadillo

CTNNB1 (catenin (cadherin-associated protein), beta 1, 88kDa) is a gene that encodes catenin beta-1 protein (also known as beta-catenin). beta-catenin is part of a complex of proteins that form adherens junctions, which are important for the establishment and maintenance of epithelial cell layers by regulating cell growth and adhesion between adjacent cells (PMID: 17854762). Mutant beta-catenin has been implicated in the pathogenesis of several cancers including melanoma, colorectal cancer, hepatocelluar carcinoma, and ovarian cancer (PMID: 12781368).

CTNNB1 is altered in 2.75% of all cancers with lung adenocarcinoma, endometrial endometrioid adenocarcinoma, colon adenocarcinoma, hepatocellular carcinoma, and prostate adenocarcinoma having the greatest prevalence of alterations [3].

CTNNB1 GENIE Cases - Top Diseases

The most common alterations in CTNNB1 are CTNNB1 Mutation (3.84%), CTNNB1 S37F (0.38%), CTNNB1 S45F (0.24%), CTNNB1 T41A (0.23%), and CTNNB1 S45P (0.20%) [3].

CTNNB1 GENIE Cases - Top Alterations

Significance of CTNNB1 in Diseases

Medulloblastoma +

Medulloblastoma, Non-WNT/Non-SHH +

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, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Malignant Solid Tumor +

Gastric Adenocarcinoma +

Esophageal Adenocarcinoma +

Glioblastoma +

Diffuse Glioma +

Malignant Glioma +

Adenocarcinoma Of The Gastroesophageal Junction +

Anaplastic Astrocytoma +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Ependymoma +

Anaplastic Oligodendroglioma +

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 +

High-Grade Glioma, NOS +

Intracranial Primitive Neuroectodermal Neoplasm +

Pancreatic Ductal Adenocarcinoma +

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.