Overview

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

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 2.11% 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 (1.63%), ERCC5 Amplification (0.20%), ERCC5 Loss (0.13%), ERCC5 E548K (0.03%), and ERCC5 P571L (0.02%) [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 +

Colorectal Carcinoma +

Cervical Carcinoma +

Endometrial Carcinoma +

Non-Small Cell Lung Carcinoma +

Non-Hodgkin Lymphoma +

Head And Neck Squamous Cell Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Fallopian Tube Carcinoma +

Mantle Cell Lymphoma +

Penile Carcinoma +

Anal Carcinoma +

Diffuse Large B-Cell Lymphoma +

Malignant Small Intestinal Neoplasm +

Malignant Intestinal Neoplasm +

Small Cell Lung Carcinoma +

Urothelial Carcinoma +

Malignant Ovarian Epithelial Tumor +

Bladder Urothelial Carcinoma +

Malignant Esophagogastric Neoplasm +

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

High Grade Ovarian Serous Adenocarcinoma +

Esophageal Carcinoma +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Cholangiocarcinoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Soft Tissue Sarcoma +

Gastrointestinal Stromal Tumor +

Ampulla Of Vater Carcinoma +

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 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.