Location [1]
Protein [2]
General transcription and DNA repair factor IIH helicase subunit XPD
Synonyms [1]

Excision repair cross-complementation group 2 (ERCC2) is a gene that encodes a protein that functions in the nucleotide excision repair pathway. Missense mutations and silent mutations are observed in cancers such as colon cancer, stomach cancer, and ovarian cancer.

ERCC2 is altered in 1.97% of all cancers with bladder urothelial carcinoma, lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

ERCC2 GENIE Cases - Top Diseases

The most common alterations in ERCC2 are ERCC2 Mutation (1.56%), ERCC2 Amplification (0.24%), ERCC2 Loss (0.11%), ERCC2 N238S (0.06%), and ERCC2 D732G (0.07%) [3].

ERCC2 GENIE Cases - Top Alterations

Significance of ERCC2 in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Ovarian Carcinoma +

Breast Carcinoma +

Colorectal Carcinoma +

Cervical Carcinoma +

Primary Peritoneal Carcinoma +

Endometrial Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Non-Hodgkin Lymphoma +

Non-Small Cell Lung Carcinoma +

Fallopian Tube Carcinoma +

Bladder Urothelial Carcinoma +

Urothelial Carcinoma +

Penile Carcinoma +

Mantle Cell Lymphoma +

Anal Carcinoma +

Malignant Intestinal Neoplasm +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Esophageal Carcinoma +

Malignant Esophagogastric Neoplasm +

Diffuse Large B-Cell Lymphoma +

Small Cell Lung Carcinoma +

Malignant Small Intestinal Neoplasm +

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

Malignant Ovarian Epithelial Tumor +

High Grade Ovarian Serous Adenocarcinoma +

Pancreatic Carcinoma +

Cholangiocarcinoma +

Pancreatic Adenocarcinoma +

Gastrointestinal Stromal Tumor +

Soft Tissue Sarcoma +

Ampulla Of Vater Carcinoma +

Vaginal Carcinoma +

Vulvar Carcinoma +


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.