Variant "ERCC2:c.934G>A(p.Asp312Asn)"
Search results: 2 records
Variant information
Gene:
ERCC2 
Variant:
ERCC2:c.934G>A(p.Asp312Asn) 
Genomic location:
chr19:45867259(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000400.3:c.934G>A(p.Asp312Asn)
protein_coding NM_001130867.1:c.862G>A(p.Asp288Asn)
Alias:
ERCC2:Asp(312)Asn(G>A) 
dbSNP ID:
rs1799793  
GWAS trait:
no data 
Modifier statisitcs
Record:
2 
Disorder:
2 
Reference:
2 
Effect type:
Expressivity(2)  
Modifier effect:
Risk factor(2)  
Details：
  • Target disease:
    Breast Cancer (DOID_1612)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    2.6-fold risk (95% CI: 1.02-6.48) 
    Effect:
    The combined effect of ERCC2 Asp(312)Asn and ERCC4 Ser(836)Ser genotypes might be associated with breast cancer risk in Korean women. Women with both ERCC2 A allele- and ERCC4 C allele-containing genotypes showed a 2.6-fold risk (95% CI: 1.02-6.48) of breast cancer compared to women concurrently carrying the ERCC2 GG and ERCC4 TT genotypes.
    Alias in reference:
    ERCC2:Asp(312)Asn(G>A)
    Reference:
    PMID15886521
    Title:
    Obesity and genetic polymorphism of ERCC2 and ERCC4 as modifiers of risk of breast cancer.
    Species studied:
    Human
    Abstract:
    To evaluate the relationship of genetic polymorphisms of ERCC2 and ERCC4 genes, both involved in nucleotide excision repair (NER), and the risk of breast cancer, a hospital-based case-control study was conducted in Korea. Histologically confirmed breast cancer cases (n = 574) and controls (n = 502) with no present or previous history of cancer were recruited from three teaching hospitals in Seoul during 1995-2001. Information on selected characteristics was collected by interviewed questionnaire. ERCC2 Asp(312)Asn (G>A) was genotyped by single-base extension assay and ERCC4 Ser(835)Ser (T>C) by dynamic allele-specific hybridization system. Although no significant association was observed between the genetic polymorphisms and the risk of breast cancer, women with both ERCC2 A allele- and ERCC4 C allele-containing genotypes showed a 2.6-fold risk (95% CI: 1.02-6.48) of breast cancer compared to women concurrently carrying the ERCC2 GG and ERCC4 TT genotypes. The breast cancer risk increased as the number of at risk genotypes increased with a borderline significance (P for trend = 0.07). Interactive effect was also observed between ERCC4 genotype and body mass idnex (BMI) for the breast cancer risk; the ERCC4 C allele containing genotypes posed a 1.7-fold (95% CI: 0.96-2.93) breast cancer risk in obese women (BMI>25 kg/m(2)) with a borderline significance. Our finding suggests that the combined effect of ERCC2 Asp(312)Asn and ERCC4 Ser(835)Ser genotypes might be associated with breast cancer risk in Korean women.
  • Target disease:
    Pancreatic Cancer (DOID_1793)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=0.46, 95% CI: 0.24-0.88 
    Effect:
    Stratified analyses showed ever smokers carrying the Asn(312)Asn genotype had a significantly reduced risk when compared with those carrying the (312)Asp allele (OR=0.46, 95% confidence interval 0.24-0.88) (P for interaction=0.03).
    Alias in reference:
    ERCC2:c.934G>A(p.Asp312Asn)
    Reference:
    PMID16458430
    Title:
    The XPD Asp312Asn and Lys751Gln polymorphisms, corresponding haplotype, and pancreatic cancer risk.
    Species studied:
    Human
    Abstract:
    We evaluated the association between the XPD exon 10 Asp(312)Asn and exon 23 Lys(751)Gln polymorphisms and the risk of pancreatic cancer in a hospital-based study of 344 patients and 386 controls frequency matched by age, gender, and race. Stratified analyses showed ever smokers carrying the Asn(312)Asn genotype had a significantly reduced risk when compared with those carrying the (312)Asp allele (OR=0.46, 95% confidence interval 0.24-0.88) (P for interaction=0.03). The (312)Asp-(751)Gln was identified as the putative at risk haplotype. Our study shows that the XPD gene polymorphism could be a genetic risk modifier for smoking-related pancreatic cancer.