Overview

Location [1]
2p21
Protein [2]
Epithelial cell adhesion molecule
Synonyms [1]
EGP314, KS1/4, ESA, MIC18, EGP-2, M4S1, TACSTD1, DIAR5, MK-1, KSA, HNPCC8, EGP40, TROP1

Epithelial cell adhesion molecule (EPCAM) is a gene that encodes a protein that functions as a carcinoma-associated antigen. Missense mutations, silent mutations, nonsense mutations, and in-frame deletions are observed in cancers such as endometrial cancer, biliary tract cancer, and skin cancer.

EPCAM is altered in 0.47% of all cancers with lung adenocarcinoma, breast invasive ductal carcinoma, colon adenocarcinoma, prostate adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

EPCAM GENIE Cases - Top Diseases

The most common alterations in EPCAM are EPCAM Mutation (0.31%), EPCAM Amplification (0.06%), EPCAM Loss (0.03%), EPCAM H227Y (0.01%), and EPCAM Q54R (0.01%) [3].

EPCAM GENIE Cases - Top Alterations

Significance of EPCAM in Diseases

Malignant Solid Tumor +

Melanoma +

Bladder Carcinoma +

Malignant Uterine Neoplasm +

Central Nervous System Neoplasm +

Non-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Lung Carcinoma +

Breast Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Bile Duct Carcinoma +

Bronchogenic Carcinoma +

Cervical Carcinoma +

Constitutional Mismatch Repair Deficiency Syndrome +

Esophageal Carcinoma +

Esophageal Squamous Cell Carcinoma +

Gallbladder Carcinoma +

Gastric Adenocarcinoma +

Head And Neck Carcinoma +

Hepatocellular Carcinoma +

Lymphoma +

Lynch Syndrome +

Ovarian Carcinoma +

Pancreatic Carcinoma +

Xeroderma Pigmentosum +

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.