|(G;G)||0||common in complete genomics|
|Disease Association||Defects in ERCC4 are the cause of xeroderma pigmentosum, complementation group F (XP-F) (MIM:278760); also known as xeroderma pigmentosum VI (XP6). XP-F is an autosomal recessive disease characterized by hypersensitivity of the skin to sunlight followed by high incidence of skin cancer and frequent neurologic abnormalities.|
[PMID 20150366] DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma
[PMID 22768293] Association between XPF Polymorphisms and Cancer Risk: A Meta-Analysis
[PMID 17299578] Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis.
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18544627] Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk.
[PMID 18701435] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
[PMID 18709642] Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans.
[PMID 18767034] Nucleotide excision repair polymorphisms may modify ionizing radiation-related breast cancer risk in US radiologic technologists.
[PMID 18990748] International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.
[PMID 19029193] Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk.
[PMID 19124519] DNA repair gene variants associated with benign breast disease in high cancer risk women.
[PMID 19252927] Bladder cancer SNP panel predicts susceptibility and survival.
[PMID 19318433] Nucleotide excision repair pathway polymorphisms and pancreatic cancer risk: evidence for role of MMS19L.
[PMID 21423097] Polymorphisms of the DNA repair genes XRCC1 and ERCC4 are not associated with smoking- and drinking-dependent larynx cancer in a Polish population.
|qualified_impact||Insufficiently evaluated not reviewed|
[PMID 22848636] Association between single nucleotide polymorphisms in ERCC4 and risk of squamous cell carcinoma of the head and neck.
[PMID 24036326] Genotoxic effect of exposure to metal(loid)s. A molecular epidemiology survey of populations living and working in Panasqueira mine area, Portugal
[PMID 24938470] Association of polymorphisms of the xeroderma pigmentosum complementation group F gene with increased glioma risk
[PMID 25292041] Associations of ERCC4 rs1800067 Polymorphism with Cancer Risk: an Updated Meta-analysis
[PMID 26339355] Genetic polymorphisms in nucleotide excision repair pathway influences response to chemotherapy and overall survival in osteosarcoma
[PMID 26436406] Genetic variability of genes involved in DNA repair influence treatment outcome in osteosarcoma
[PMID 26843108] A Comprehensive Meta-analysis of Genetic Associations Between Key Polymorphic Loci in DNA Repair Genes and Glioma Risk.