Overview

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

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 1.19% of all cancers with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, prostate adenocarcinoma, and squamous cell lung carcinoma having the greatest prevalence of alterations [3].

ERCC3 GENIE Cases - Top Diseases

The most common alterations in ERCC3 are ERCC3 Mutation (1.03%), ERCC3 Nonsense (0.07%), ERCC3 Loss (0.05%), ERCC3 Amplification (0.04%), 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 +

Colorectal Carcinoma +

Cervical Carcinoma +

Non-Hodgkin Lymphoma +

Primary Peritoneal Carcinoma +

Endometrial Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Non-Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Cholangiocarcinoma +

Fallopian Tube Carcinoma +

Penile Carcinoma +

Malignant Small Intestinal Neoplasm +

Melanoma +

Malignant Intestinal Neoplasm +

Bladder Urothelial Carcinoma +

Urothelial Carcinoma +

Diffuse Large B-Cell Lymphoma +

Small Cell Lung Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Mesothelioma +

Malignant Ovarian Epithelial Tumor +

Ampulla Of Vater Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Esophageal Carcinoma +

Malignant Esophagogastric Neoplasm +

Gastrointestinal Stromal Tumor +

Soft Tissue Sarcoma +

Pancreatic Carcinoma +

Pancreatic Adenocarcinoma +

Clear Cell Renal Cell Carcinoma +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Anal Carcinoma +

Mantle Cell Lymphoma +

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

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 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.