Overview

Location [1]
19q13.32
Protein [2]
DNA excision repair protein ERCC-1
Synonyms [1]
COFS4, RAD10, UV20

Excision repair cross-complementation group 1 (ERCC1) is a gene that encodes a protein that functions in the nucleotide excision repair pathway. Missense mutations, silent mutations, and nonsense mutations are observed in cancers such as endometrial cancer, skin cancer, and colon cancer.

ERCC1 is altered in 0.43% of all cancers.

The most common alterations in ERCC1 are ERCC1 Mutation (0.07%), ERCC1 Amplification (0.01%), ERCC1 R156W (0.01%), ERCC1 A265A (0.00%), and ERCC1 V116M (0.00%) [3].

ERCC1 GENIE Cases - Top Alterations

Significance of ERCC1 in Diseases

Malignant Solid Tumor +

Cholangiocarcinoma +

Clear Cell Renal Cell Carcinoma +

Mesothelioma +

Pancreatic Carcinoma +

Uveal Melanoma +

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.