Overview

Location [1]
19q13.32
Protein [2]
General transcription and DNA repair factor IIH helicase subunit XPD
Synonyms [1]
TTD1, XPD, TFIIH, TTD, EM9, COFS2

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 1.54% 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 (1.52%), ERCC2 Amplification (0.20%), ERCC2 Loss (0.07%), ERCC2 N238S (0.04%), and ERCC2 D732G (0.03%) [3].

ERCC2 GENIE Cases - Top Alterations

Significance of ERCC2 in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Ovarian Carcinoma +

Breast Carcinoma +

Primary Peritoneal Carcinoma +

Non-Hodgkin Lymphoma +

Cervical Carcinoma +

Fallopian Tube Carcinoma +

Urothelial Carcinoma +

Endometrial Carcinoma +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Cholangiocarcinoma +

Head And Neck Squamous Cell Carcinoma +

Bladder Urothelial Carcinoma +

Malignant Intestinal Neoplasm +

Esophageal Carcinoma +

Clear Cell Renal Cell Carcinoma +

Malignant Esophagogastric Neoplasm +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

High Grade Ovarian Serous Adenocarcinoma +

Malignant Ovarian Epithelial Tumor +

Pancreatic Carcinoma +

Pancreatic Adenocarcinoma +

Kidney Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Diffuse Large B-Cell Lymphoma +

Gastrointestinal Stromal Tumor +

Hepatocellular Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Malignant Small Intestinal Neoplasm +

Mantle Cell Lymphoma +

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

Mesothelioma +

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.