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Gene

ERCC2

ERCC2 is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (10), Actionable biomarkers (1), Trial mentions (6), and 7 more evidence types, each linked to its source.

Ensembl ENSG00000104884 UniProt P18074 Matched to Ensembl and UniProt
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Assay-provider ledger Assay-provider ledger 10 Actionable biomarkers Actionable biomarkers 1 Trial mentions Trial mentions 6 Target-disease associations Target-disease associations 589 Vendor sourcing Vendor sourcing 48 Trial-cited literature Trial-cited literature 108 Protein variant mentions Protein variant mentions 45 Human sample screening reference Human sample screening reference 5 Assay-provider ledger Assay-provider ledger 10 Actionable biomarkers Actionable biomarkers 1 Trial mentions Trial mentions 6 Target-disease associations Target-disease associations 589 Vendor sourcing Vendor sourcing 48 Trial-cited literature Trial-cited literature 108 Protein variant mentions Protein variant mentions 45 Human sample screening reference Human sample screening reference 5

Rows recorded per section (log scale)

2 more sections with rows · 2 sections measured, none recorded

Cancer actionable (CGI)

Curated as clinically actionable in cancer by the Cancer Genome Interpreter.

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The PDF carries up to 50 rows of each section, where the page shows the first few, with the sources listed. Enter a work email and confirm it from the message we send, and the report follows by email.

Evidence over time

Share of that year: what fraction of the trials and papers our biomarker dictionary matched in a year mention ERCC2. The denominator is documents that mention any gene, not every registered document, so improving the matcher moves both halves and never rewrites history. Gene named in free-text trial records. A mention, not a validated biomarker. Actionable-biomarker and target-disease-association evidence carries no date in our sources, so it is not on this chart. Publication mentions cover only papers cited by a registered clinical trial, not all of PubMed.

Trial mentions: plotted from 1990 to 2026, the years our matched corpus covers.

Publication mentions: plotted from 1990 to 2023, the years our matched corpus covers. Not plotted: 2 at the structurally incomplete recent edge.

ERCC2 has 6 trial mentions across 6 years. That is too few to read as a trend, so the years are listed instead.

The yearly numbers
ERCC2 per year, by evidence type, the most recent 10 years, newest first; the chart covers 1990 to 2026. The share is of the trials and papers our biomarker dictionary matched that year, not of the literature at large, and a blank year is one our matched corpus does not cover at all.
Year Trial mentions Share of that year Publication mentions Share of that year
2026 0 of 8,738 0.00% not measured
2025 0 of 8,875 0.00% not measured
2024 1 of 8,597 0.01% not measured
2023 0 of 8,275 0.00% 1 of 11,460 0.01%
2022 0 of 8,285 0.00% 6 of 13,598 0.04%
2021 0 of 8,692 0.00% 11 of 15,045 0.07%
2020 0 of 7,640 0.00% 6 of 14,459 0.04%
2019 0 of 7,300 0.00% 9 of 12,159 0.07%
2018 1 of 6,927 0.01% 9 of 11,854 0.08%
2017 1 of 6,558 0.02% 8 of 11,595 0.07%

Assay-provider ledger (10)

Shown in this order: most recent publication first.

Assay-provider ledger
Company Provider class Validation Papers Most recent publication
Belay Diagnostics Diagnostic provider Clinical validationAnalytical validation 1 July 01, 2025
Acornmed Biotechnology Diagnostic provider Clinical validation 1 October 01, 2024
Genetron Health Diagnostic provider Clinical validation 1 September 27, 2024
THERMO FISHER SCIENTIFIC (Click-iT EdU kit, TaqMan Low-Density Array reagents, ExpressionSuite/DataAssist software) Reagent supplier Clinical validation 2 September 27, 2024
ZYMO Research (Orange, CA) Reagent supplier Clinical validation 1 September 27, 2024

Actionable biomarkers (1)

Shown in this order: fixed catalogue order, not ranked.

Actionable biomarkers
Alteration Drug Response Disease Source
ERCC2 oncogenic mutation CISPLATIN response-associated No disease recorded Cancer Genome Interpreter

Trial mentions (6)

Shown in this order: fixed catalogue order, not by date.

Trial mentions
Trial Source
NCT00728000 Trial eligibility (AACT)
NCT03061188 Trial eligibility (AACT)
NCT03448718 Trial eligibility (AACT)
NCT06439225 Trial eligibility (AACT)
NCT00515216 Trial outcomes (AACT)

Target-disease associations (589)

Shown in this order: fixed catalogue order, not ranked.

Target-disease associations
Disease Therapeutic area Source
ALDH18A1-related de Barsy syndrome genetic, familial or congenital disease Mouse knockout (IMPC)
Abnormality of the gastrointestinal tract phenotype GWAS credible sets
Acanthamoeba keratitis disorder of visual system Mouse knockout (IMPC)
Acute Leukemia cancer or benign tumor Literature (Europe PMC)
Adrenal Gland Neuroblastoma cancer or benign tumor Cancer Gene Census

Vendor sourcing (48)

Shown in this order: alphabetical by organization.

Vendor sourcing
Organization Role Tier Evidence Citation
3billion, Inc. (South Korea) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission It is not observed in the gnomAD v2.1.1 dataset (PM2). Missense changes are a common disease-causing mechanism (PP2). In silico tool predictions suggest no d... View ClinVar record SCV002011915.1
AbbVie Inc. Trial collaborator Named in trial inclusion criteriaTrial eligibility criteria : * Patients must have a histologically documented (either primary or metastatic site) diagnosis of advanced solid tumor cancer (stage IV or unresectable) o... View trial NCT03061188
AbbVie Inc. Trial collaborator Mentioned in trial textTrial free-text mention ERCC2 View trial NCT03061188
Ambry Genetics (United States) Testing lab / CRO (runs the assay) Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein ... View ClinVar record SCV002605615.2
Astrazeneca Plc Trial collaborator Named in trial inclusion criteriaTrial eligibility criteria #8) may have an ECOG Performance Status of ≤ 2. * Histological or cytological evidence/confirmation of urothelial cancer. * Metastatic and/or unresectable (c... View trial NCT03448718

Trial-cited literature (108)

Shown in this order: newest first, then most cited.

Trial-cited literature
Publication Journal Year Citations
Phase II Trial of Risk-Enabled Therapy After Neoadjuvant Chemotherapy for Muscle-Invasive Bladder Cancer (RETAIN 1). Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2025 55
Daily yogurt consumption does not affect bone turnover markers in men and postmenopausal women of Caribbean Latino descent: a randomized controlled trial. BMC nutrition 2024 9
Gemcitabine and cisplatin plus nivolumab as organ-sparing treatment for muscle-invasive bladder cancer: a phase 2 trial. Nature medicine 2023 131
A pan-cancer compendium of chromosomal instability. Nature 2022 234
DNA damage response and repair genes in advanced bone and soft tissue sarcomas: An 8-gene signature as a candidate predictive biomarker of response to trabectedin and olaparib combination. Frontiers in oncology 2022 12

Protein variant mentions (45)

Shown in this order: alphabetical by variant.

Protein variant mentions
Variant Distinct papers Year range Sample papers
p.A182V 1 2015 PMID 25741868
p.A717G 2 2015 to 2018 PMID 29607586, PMID 25741868
p.D312E 2 2001 to 2009 PMID 20066159, PMID 11751380
p.D423N 1 2015 PMID 25741868
p.D609G 1 2014 PMID 25096233

Human sample screening reference (5)

Shown in this order: alphabetical by variant.

Human sample screening reference
Variant GDC project Disease / site Affected cases Profiled cases Observed frequency 95% interval
p.E86Q TCGA-BLCA Epithelial Neoplasms, NOS; Adenomas and Adenocarcinomas; Squamous Cell Neoplasms; Transitional Cell Papillomas and Carcinomas; Bladder 1 412 0.24% 0.04% to 1.36%
p.Q758E TCGA-BLCA Epithelial Neoplasms, NOS; Adenomas and Adenocarcinomas; Squamous Cell Neoplasms; Transitional Cell Papillomas and Carcinomas; Bladder 1 412 0.24% 0.04% to 1.36%
p.S44L TCGA-BLCA Epithelial Neoplasms, NOS; Adenomas and Adenocarcinomas; Squamous Cell Neoplasms; Transitional Cell Papillomas and Carcinomas; Bladder 3 412 0.73% 0.25% to 2.12%
p.T484M CPTAC-3 Not Applicable; Transitional Cell Papillomas and Carcinomas; Ductal and Lobular Neoplasms; Adenomas and Adenocarcinomas; Gliomas; Epithelial Neoplasms, NOS; Complex Epithelial Neoplasms; Complex Mixed and Stromal Neoplasms; Lipomatous Neoplasms; Squamous Cell Neoplasms; Myeloid Leukemias; Nevi and Melanomas; Stomach; Other and ill-defined sites in lip, oral cavity and pharynx; Unknown; Colon; Other and unspecified urinary organs; Floor of mouth; Other and unspecified parts of mouth; Gum; Bronchus and lung; Oropharynx; Other and unspecified parts of tongue; Base of tongue; Breast; Other and ill-defined sites; Larynx; Lip; Uterus, NOS; Hematopoietic and reticuloendothelial systems; Kidney; Brain; Skin; Pancreas; Tonsil 1 1,815 0.06% 0.01% to 0.31%
p.T484M TCGA-BLCA Epithelial Neoplasms, NOS; Adenomas and Adenocarcinomas; Squamous Cell Neoplasms; Transitional Cell Papillomas and Carcinomas; Bladder 1 412 0.24% 0.04% to 1.36%

Literature-extracted relations (26)

Shown in this order: chemicals, then diseases.

Literature-extracted relations
Related entity Kind Source relation label Paper Year
EVEROLIMUS Chemical associate Gene Expression Signature Correlates with Outcomes in Metastatic Renal Cell Carcinoma Patients Treated with Everolimus Alone or with a Vascular Disrupting Agent. 2021
CISPLATIN Chemical negative_correlate The DNA damage response network in the treatment of head and neck squamous cell carcinoma. 2021
CISPLATIN Chemical associate <i>ERCC2</i> Helicase Domain Mutations Confer Nucleotide Excision Repair Deficiency and Drive Cisplatin Sensitivity in Muscle-Invasive Bladder Cancer. 2019
CISPLATIN Chemical associate Somatic ERCC2 mutations correlate with cisplatin sensitivity in muscle-invasive urothelial carcinoma. 2014
Irinotecan Chemical associate Association of molecular markers with toxicity outcomes in a randomized trial of chemotherapy for advanced colorectal cancer: the FOCUS trial. 2009

Organizations publishing (130)

Shown in this order: most papers first.

Organizations publishing
Organization Type Papers Years
Memorial Sloan Kettering Cancer Center Hospital 9 2014 to 2021
Dana-Farber Cancer Institute Other 8 2014 to 2021
Government of the United States of America Government 8 2010 to 2022
Temple University Health System Academic 7 2015 to 2025
Harvard Medical School Academic 6 2014 to 2023

Where ERCC2 appears

  • animal disease
  • biological_process
  • cancer or benign tumor
  • cardiovascular disease
  • disorder of visual system
  • endocrine system disease
  • gastrointestinal disease
  • genetic, familial or congenital disease
  • hematologic disease
  • immune system disease
  • infectious disease
  • integumentary system disease
  • measurement
  • musculoskeletal or connective tissue disease
  • nervous system disease
  • nutritional or metabolic disease
  • phenotype
  • reproductive system or breast disease
  • urinary system disease

534 diseases touched.

Not on this page

Checked, with nothing recorded for this biomarker: fda companion diagnostic assertions and fda biomarker qualification projects.

Browse all biomarker evidence pages