ERCC2 E86Q

CI-VAR-00000859Explore in graph →CIViC 3505

Curated evidence

Evidence by cancer (4 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–4 of 4 evidence items across 3 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Bladder Carcinoma1
ERCC2 E86Q	Chemotherapy	Predictive	C	Does Not Support Sensitivity Response	2	submitted	EID11503 Variant found in a patient that was diagnosed with muscle-invasive bladder cancer in pretreatment transurethral resection tumor samples (Supplementary Table 4; Patients ID: CF1000). The patient was ca… (full text at CIViC) PMID 25636205 · Groenendijk et al., 2016 · Open in CIViC	civic
Bladder Urothelial Carcinoma2
ERCC2 E86Q	(predisposing)	Predisposing	E	Supports Predisposition	1	submitted	EID9746 This study assessed the potential for mutated genes associated with urothelial bladder cancers as candidates for platinum-based neoadjuvant therapy. Nineteen patients (18 male, 3 female) diagnosed wit… (full text at CIViC) PMID 32984035 ·

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.

Unmapped disease1unmapped disease
ERCC2 E86Q	(functional)	Functional	D	Supports Loss Of Function	2	submitted	EID9691 Mutations in the nucleotide excision repair (NER) gene ERCC2 have been associated with response to cisplatin. The variant E86Q 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