rs1799790

This variant is located in the ERCC2 gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (1)

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Genetic variability in DNA repair and cell cycle control pathway genes and risk of smoking‐related lung cancer
AssociationN=1,651Shama C. Buch et al.(2012)· Molecular Carcinogenesis

This case-control study of 722 lung cancer cases and 929 controls examined 240 SNPs in DNA repair and cell cycle control pathway genes among smokers. Thirty-eight SNPs were associated with lung cancer risk at P<0.05, with strongest associations in GTF2H4 (rs2074508), LIG1 (rs10500298), PARP1 (rs747658, rs3219073), and XRCC1 (rs1799782, rs3213255). A genetic risk score combining 31 SNPs showed 3.44-fold increased risk in the highest versus lowest quartile.

Traits studied:AdenocarcinomaLung cancerNon-small cell lung cancerSmall cell lung cancerSmoking-related lung cancerSquamous cell carcinoma
PubMedDOIMetascience Observatory

About ERCC2

The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

View all ERCC2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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