Overview

Location [1]
2q14.3
Protein [2]
General transcription and DNA repair factor IIH helicase subunit XPB
Synonyms [1]
XPB, BTF2, TFIIH, RAD25, TTD2, GTF2H

Excision repair cross-complementation group 3 (ERCC3) is a gene that encodes a protein that is involved in nucleotide excision repair. Missense mutations, silent mutations, nonsense mutations, and in-frame deletions are observed in cancers such as colon cancer, skin cancer, and stomach cancer.

ERCC3 is altered in 1.03% of all cancers with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, bladder urothelial carcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

ERCC3 GENIE Cases - Top Diseases

The most common alterations in ERCC3 are ERCC3 Mutation (1.05%), ERCC3 Amplification (0.04%), ERCC3 Loss (0.04%), ERCC3 R742W (0.02%), and ERCC3 V129I (0.02%) [3].

ERCC3 GENIE Cases - Top Alterations

Significance of ERCC3 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 +

Melanoma +

Malignant Intestinal Neoplasm +

Bladder Urothelial Carcinoma +

Mesothelioma +

High Grade Ovarian Serous Adenocarcinoma +

Malignant Ovarian Epithelial Tumor +

Kidney Carcinoma +

Malignant Esophagogastric Neoplasm +

Pancreatic Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Clear Cell Renal Cell Carcinoma +

Diffuse Large B-Cell Lymphoma +

Esophageal Carcinoma +

Gastric Carcinoma +

Gastrointestinal Stromal Tumor +

Hepatocellular Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Malignant Gastric Neoplasm +

Malignant Small Intestinal Neoplasm +

Mantle Cell Lymphoma +

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

Pancreatic Adenocarcinoma +

Penile Carcinoma +

Small Cell Lung 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.