rs735482

This is a protein-altering variant in the ERCC1 gene.

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ClinVar annotation

Benign★★★☆
3 submitters2 publications
View on ClinVar →
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Research that mentions this SNP (4)

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Association of GSTP1 and ERCC1 polymorphisms with toxicity in locally advanced head and neck cancer platinum‐based chemoradiotherapy treatment
AssociationN=110Goretti Duran et al.(2019)· Head & Neck

A candidate gene study examining 36 SNPs in 29 genes for associations with acute toxicity in 110 locally advanced head and neck cancer patients treated with platinum-based chemoradiotherapy. ERCC1 rs11615-C allele (P=0.0066), ERCC1 rs735482-C allele (P=0.0204), and ERCC4 rs1799801-C allele (P=0.0286) were protective against grade 2-3 hematologic toxicity. GSTP1 G allele was protective against severe dysphagia (P=0.0004).

Traits studied:Acute toxicity in head and neck cancerDysphagiaHematologic toxicity
PubMedDOIMetascience Observatory
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PPP1R13L variant associated with prognosis for patients with rectal cancer
AssociationN=349Yee Soo Chae et al.(2013)· Journal of Cancer Research and Clinical Oncology

This study investigated the association between polymorphisms in ERCC1, CD3EAP, and PPP1R13L genes (located at 19q13.2-3) and colorectal cancer prognosis in 349 Korean patients undergoing curative surgery. PPP1R13L rs1970764 was significantly associated with relapse-free and disease-specific survival in a recessive model (HR = 1.743 and 1.734, P = 0.003 and 0.010, respectively). The prognostic impact was particularly strong in rectal cancer patients (HR = 3.307 and 3.180, both P < 0.001), suggesting this variant is a prognostic marker for rectal cancer outcomes.

Traits studied:Colon cancerColorectal cancerDisease-specific survivalRectal cancerRelapse-free survival
PubMedDOIMetascience Observatory
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Genetic sequence variants and the development of secondary primary cancers in patients with head and neck cancers
AssociationN=531Abul Kalam Azad et al.(2012)· Cancer

This case-control association study evaluated 23 genetic sequence variants in 17 genes across DNA repair, cell cycle, and other pathways in 531 stage I-II radiation-treated head and neck cancer (HNC) patients to identify associations with secondary primary cancers (SPCs). Among the variants tested, the DNMT3B C149T variant (rs2424913) showed a strong significant association with SPC development, with adjusted hazard ratios of 2.23 (95% CI, 1.32-3.78; P = .003) for TT versus CC genotype and 1.49 (95% CI, 1.15-1.95; P = .003) per T allele. A haplotype cluster of 5 DNMT3B variants in strong linkage disequilibrium also showed significant associations (P < .003), suggesting aberrant DNA methylation is an important modulator of field cancerization in HNC.

Traits studied:Head and neck cancerSecondary primary cancer (SPC)
PubMedDOIMetascience Observatory
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The importance of a sub-region on chromosome 19q13.3 for prognosis of multiple myeloma patients after high-dose treatment and stem cell support: a linkage disequilibrium mapping in RAI and CD3EAP
AssociationN=348Annette J. Vangsted et al.(2011)· Annals of Hematology

A study of 348 multiple myeloma patients examined associations between SNPs in chromosome 19q13.3 (specifically in RAI and CD3EAP genes) and treatment outcomes following high-dose chemotherapy with stem cell support. Polymorphisms RAI-intron1-1 (rs4572514) and CD3EAP G-21A (rs967591) were significantly associated with prolonged time-to-treatment failure (p=0.003) and overall survival (p=0.02). Combination analyses with the NFKB1 promoter polymorphism suggested potential functional effects related to NF-κB pathway involvement.

Traits studied:Multiple myelomaOverall survivalTime-to-treatment failureTreatment outcome after high-dose chemotherapy
PubMedDOIMetascience Observatory

About ERCC1

The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]

View all ERCC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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