Overview

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

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 1.38% 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 (1.41%), ERCC4 Amplification (0.12%), ERCC4 E527D (0.03%), ERCC4 G559D (0.01%), and ERCC4 Loss (0.01%) [3].

ERCC4 GENIE Cases - Top Alterations

Significance of ERCC4 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 +

Urothelial Carcinoma +

Non-Small Cell Lung Carcinoma +

Cholangiocarcinoma +

Head And Neck Squamous Cell Carcinoma +

Malignant Intestinal Neoplasm +

Small Cell Lung Carcinoma +

Malignant Esophagogastric Neoplasm +

Bladder Urothelial Carcinoma +

Esophageal Carcinoma +

Clear Cell Renal Cell Carcinoma +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Kidney Carcinoma +

Malignant Ovarian Epithelial Tumor +

Pancreatic Carcinoma +

Pancreatic Adenocarcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Diffuse Large B-Cell Lymphoma +

Gastrointestinal Stromal Tumor +

Hepatocellular Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Malignant Small Intestinal Neoplasm +

Mantle Cell Lymphoma +

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

Mesothelioma +

Penile Carcinoma +

Soft Tissue Sarcoma +

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.