Associated Genetic Biomarkers
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 0.22% of all cancers with colon adenocarcinoma, lung adenocarcinoma, endometrial endometrioid adenocarcinoma, high grade ovarian serous adenocarcinoma, and conventional glioblastoma multiforme having the greatest prevalence of alterations .
The most common alterations in ERCC1 are ERCC1 Mutation (0.54%), ERCC1 Amplification (0.08%), ERCC1 R156W (0.04%), ERCC1 S45T (0.03%), and ERCC1 V116M (0.03%) .
ERCC1 status serves as an inclusion eligibility criteria in 2 clinical trials, of which 1 is open and 1 is closed. Of the trials that contain ERCC1 status as an inclusion criterion, 2 are phase 2 (1 open).
Trials with ERCC1 status in the inclusion eligibility criteria most commonly target malignant solid tumor .
The most frequent alterations to serve as inclusion eligibility criteria are ERCC1 Deficient Expression, ERCC1 Loss, ERCC1 Mutation, and ERCC1 Overexpression .
Temozolomide and veliparib are the most frequent therapies in trials with ERCC1 as an inclusion criteria .
Significance of ERCC1 in Diseases
Malignant Solid Tumor +
Pancreatic Carcinoma +
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.