Overview

Location [1]
13q33.1
Protein [2]
DNA repair protein complementing XP-G cells
Synonyms [1]
ERCM2, UVDR, COFS3, XPGC, XPG, ERCC5-201

Excision repair cross-complementation group 5 (ERCC5) is a gene that encodes a protein that is involved in DNA excision repair following UV-induced damage. Missense mutations, silent mutations, nonsense mutations, and frameshift deletions are observed in cancers such as parathyroid cancer, colon cancer, and endometrial cancer.

ERCC5 is altered in 1.81% of all cancers with colon adenocarcinoma, lung adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and prostate adenocarcinoma having the greatest prevalence of alterations [3].

ERCC5 GENIE Cases - Top Diseases

The most common alterations in ERCC5 are ERCC5 Mutation (1.67%), ERCC5 Amplification (0.18%), ERCC5 Loss (0.13%), ERCC5 K917Nfs*65 (0.04%), and ERCC5 A1105G (0.01%) [3].

ERCC5 GENIE Cases - Top Alterations

Significance of ERCC5 in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Ovarian Carcinoma +

Breast Carcinoma +

Primary Peritoneal Carcinoma +

Non-Hodgkin Lymphoma +

Cervical Carcinoma +

Fallopian Tube Carcinoma +

Endometrial Carcinoma +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Urothelial Carcinoma +

Cholangiocarcinoma +

Head And Neck Squamous Cell Carcinoma +

Diffuse Large B-Cell Lymphoma +

Malignant Intestinal Neoplasm +

Hepatocellular Carcinoma +

Malignant Ovarian Epithelial Tumor +

Bladder Urothelial Carcinoma +

Clear Cell Renal Cell Carcinoma +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Malignant Esophagogastric Neoplasm +

Kidney Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Esophageal Carcinoma +

Soft Tissue Sarcoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Gastrointestinal Stromal Tumor +

Histiocytic And Dendritic Cell Neoplasm +

Malignant Small Intestinal Neoplasm +

Mantle Cell Lymphoma +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Mesothelioma +

Penile Carcinoma +

Small Cell Lung Carcinoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

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.