rs1007616

This variant is located in the ERCC1 gene.

▶

ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
▶

Research that mentions this SNP (2)

▶
An exploratory case‐only analysis of gene‐hazardous air pollutant interactions and the risk of childhood medulloblastoma
AssociationN=98Lupo PJ et al.(2012)· Pediatric Blood & Cancer

A case-only study of 98 children with medulloblastoma/PNET examining gene-environment interactions between chlorinated solvent exposure and detoxification/DNA repair genotypes. Found 11 significant interactions; after multiple comparison correction, only the interaction between high trichloroethylene exposure and OGG1 rs293795 remained significant (OR = 9.24, 95% CI: 2.24-38.24). Two additional borderline significant interactions identified: OGG1 rs159150 with trichloroethylene (OR = 6.50) and NAT1 rs13253389 with vinyl chloride (OR = 0.05, protective).

Traits studied:Childhood CNS tumorsMedulloblastomaPrimitive neuroectodermal tumor (PNET)
PubMedDOIMetascience Observatory
▶
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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…