Overview

Location [1]
16p13.12
Protein [2]
DNA repair endonuclease XPF
Synonyms [1]
FANCQ, XFEPS, RAD1, XPF, ERCC11

Excision repair cross-complementation group 4 (ERCC4) is a gene that encodes a protein that is involved in nucleotide excision repair. Missense mutations, silent mutations, nonsense mutations, and frameshift deletions are observed in cancers such as endometrial cancer, colon cancer, and skin cancer.

ERCC4 is altered in 1.60% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, endometrial endometrioid adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

ERCC4 GENIE Cases - Top Diseases

The most common alterations in ERCC4 are ERCC4 Mutation (1.37%), ERCC4 Amplification (0.15%), ERCC4 E527D (0.08%), ERCC4 Loss (0.03%), and ERCC4 S540L (0.02%) [3].

ERCC4 GENIE Cases - Top Alterations

Significance of ERCC4 in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Colorectal Carcinoma +

Cervical Carcinoma +

Primary Peritoneal Carcinoma +

Endometrial Carcinoma +

Fallopian Tube Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Non-Small Cell Lung Carcinoma +

Non-Hodgkin Lymphoma +

Penile Carcinoma +

Esophageal Carcinoma +

Malignant Esophagogastric Neoplasm +

Small Cell Lung Carcinoma +

Urothelial Carcinoma +

Bladder Urothelial Carcinoma +

Malignant Intestinal Neoplasm +

Malignant Small Intestinal Neoplasm +

Anal Carcinoma +

Diffuse Large B-Cell Lymphoma +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Ampulla Of Vater Carcinoma +

Malignant Ovarian Epithelial Tumor +

Cholangiocarcinoma +

Pancreatic Carcinoma +

Pancreatic Adenocarcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Soft Tissue Sarcoma +

Gastrointestinal Stromal Tumor +

Mantle Cell Lymphoma +

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

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.