Gene

ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit

Explore in graph →CI-GENE-00044916HGNC:3434 ENSG00000104884 NCBI 2068 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (23)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–23 of 23 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
ERCC2 D257N1
Chemotherapy	Bladder Carcinoma	Predictive	C	Does Not Support Sensitivity Response	2	submitted	EID11506 Variant found in a patient that was diagnosed with muscle-invasive bladder cancer in pretreatment transurethral resection tumor samples (Supplementary Table 4; Patients ID: CF0959). The patient was ca…

Cohorts

Alteration frequency by cohort (97)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved97 cohort rows (showing 47, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Non-Small Cell Lung Cancer (MSK, J Clin Oncol 2018) nsclc_pd1_msk_2018	Lung Non-Small Cell Carcinoma	Ssm

Literature

Linked publications (2)

25 per page, newest first.

pubmedPublishedShowing 1–2 of 2 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Common variations in ERCC2 are associated with response to cisplatin chemotherapy and clinical outcome in osteosarcoma patients.
· Pharmacogenomics J · 2009 · PMID 19434073 · validated civic_curation pubmed
Japanese-US common-arm analysis of paclitaxel plus carboplatin in advanced non-small-cell lung cancer: a model for assessing population-related pharmacogenomics.
· J Clin Oncol · 2009 · PMID 19470925 · validated civic_curation pubmed

ERCC2 E79D1
(functional)	—UNRESOLVED	Functional	D	Supports Loss Of Function	2	submitted	EID9690 Mutations in the nucleotide excision repair (NER) gene ERCC2 have been associated with response to cisplatin. The variant E79D lies in a highly conserved helicase motif and was shown to drastically re… (full text at CIViC) PMID 29980530 · Li et al., 2019 · Open in CIViC	civic

ERCC2 E79D1

(functional)

—UNRESOLVED

Functional

Supports Loss Of Function

submitted

EID9690

Mutations in the nucleotide excision repair (NER) gene ERCC2 have been associated with response to cisplatin. The variant E79D lies in a highly conserved helicase motif and was shown to drastically re… (full text at CIViC)

PMID 29980530 · Li et al., 2019 · Open in CIViC

ERCC2 K751Q2
Cisplatin	Osteosarcoma	Predictive	B	Supports Resistance	4	accepted	EID676 The ERCC2 K751Q variant was significantly correlated with a lower response to cisplatin chemotherapy in osteosarcoma patients and shorter event-free survival. 91 osteosarcoma patients with a median ag… (full text at CIViC) PMID 19434073 · Caronia et al., 2009 · Open in CIViC	civic
Carboplatin + PaclitaxelCombination	Lung Non-Small Cell CarcinomaCURATED_BROADER	Predictive	B	Supports Sensitivity Response	3	accepted	EID677 The ERCC2 K751Q variant is significantly correlated with increased response to paclitaxel and carboplatin therapies in non small cell lung cancer (NSCLC). The researchers utilized data from three prev… (full text at CIViC) PMID 19470925 · Gandara et al., 2009 · Open in CIViC	civic

ERCC2 Mutation + ERCC3 Mutation + ERCC4 Mutation + ERCC5 MutationERCC2 ERCC3 ERCC4 ERCC53
(prognostic)	Malignant NeoplasmALIAS	Prognostic	B	Supports Better Outcome	2	submitted	EID12645 In two independent retrospective pan-cancer cohorts without ICI treatment (TCGA cohort 1 n = 3292; MSK-MET cohort 2 n = 25,659), tumors harboring ERCC2/ERCC3/ERCC4/ERCC5 mutations showed improved OS v… (full text at CIViC) PMID 37626083 · Chen et al., 2023 · Open in CIViC	civic
Immune Checkpoint Inhibitor	Melanoma	Predictive	B	Supports Sensitivity Response	3	submitted	EID12646 In a retrospective pan-cancer ICI-treated cohort from MSKCC (cohort 3, n = 1661), ERCC2/ERCC3/ERCC4/ERCC5-mutated tumors demonstrated improved OS vs ERCC-WT tumors (HR 0.54, 95% CI 0.42-0.70; p < 0.00… (full text at CIViC) PMID 37626083 · Chen et al., 2023 · Open in CIViC	civic
〃	Lung Non-Small Cell CarcinomaCURATED_BROADER	Predictive	B	Supports Sensitivity Response	3	submitted	EID12647 In a retrospective pan-cancer ICI-treated cohort from MSKCC (cohort 3, n = 1661), ERCC2/ERCC3/ERCC4/ERCC5-mutated tumors demonstrated improved OS vs ERCC-WT tumors (HR 0.54, 95% CI 0.42-0.70; p < 0.00… (full text at CIViC) PMID 37626083 · Chen et al., 2023 · Open in CIViC	civic