Variant "ERCC2:c.2251A>C(p.Lys751Gln)"
Search results: 4 records
Variant information
Gene:
ERCC2 
Variant:
ERCC2:c.2251A>C(p.Lys751Gln) 
Genomic location:
chr19:45854919(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000400.3:c.2251A>C(p.Lys751Gln)
protein_coding NM_177417.2:c.*304T>G
Alias:
ERCC2:p.Lys751Gln, ERCC2:751AC/CC 
dbSNP ID:
rs13181  
GWAS trait:
lung carcinoma 
Modifier statisitcs
Record:
4 
Disorder:
4 
Reference:
4 
Effect type:
Expressivity(3) ,Penetrance(1)  
Modifier effect:
Risk factor(3) ,Altered incidence(1)  
Details：
  • Target disease:
    Hereditary Breast Cancer (Orphanet_227535)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    OR=1.31, 95% CI: 0.80–2.15; P=0.278 
    Effect:
    XRCC1 399Gln genotypes and without family history of breast cancer have a protective effect concerning this disease
    Alias in reference:
    ERCC2:p.Lys751Gln
    Reference:
    PMID17063276
    Title:
    DNA repair polymorphisms might contribute differentially on familial and sporadic breast cancer susceptibility: a study on a Portuguese population.
    Species studied:
    Human
    Abstract:
    The purpose of this study was to evaluate the role of polymorphisms in DNA repair genes as genetic indicators of susceptibility to familial and sporadic breast cancer. We analysed DNA samples from 285 breast cancer patients and 442 control subjects, for XRCC1 Arg399Gln, XPD Lys751Gln, RAD51 G135C and XRCC3 Thr241Met polymorphisms using PCR-RFLP. We observed that women carriers of XRCC1 399Gln genotypes and without family history of breast cancer have a protective effect concerning this disease (OR = 0.54 95% CI 0.35-0.84; p = 0.006). Furthermore, we found that carriers of XRCC3 241Met genotypes without FH have an increased susceptibility of breast cancer (OR = 2.21 95% CI 1.42-3.44; p < 0.001). Additionally, we verified an increased risk of breast cancer in women with FH and carrying RAD51 135C genotypes (OR = 2.17 95% CI 1.19-3.98; p = 0.012). Our results suggest XRCC1 Arg399Gln and XRCC3 Thr241Met DNA repair polymorphisms as important biomarkers to sporadic breast cancer susceptibility, as well as, RAD51 G135C polymorphism as a real risk modifier in familial breast cancer cases.
  • Target disease:
    Lung Adenocarcinoma (DOID_3910)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Adjusted OR=1.64, 95% CI: 1.06-2.52 
    Effect:
    ERCC2 751 polymorphism may be a genetic risk modifier for lung adenocarcinoma in non-smoking females in China
    Alias in reference:
    ERCC2:751AC/CC
    Reference:
    PMID20003391
    Title:
    ERCC2, ERCC1 polymorphisms and haplotypes, cooking oil fume and lung adenocarcinoma risk in Chinese non-smoking females.
    Species studied:
    Human
    Abstract:
    Excision repair cross-complementing group 1 (ERCC1) and group 2 (ERCC2) proteins play important roles in the repair of DNA damage and adducts. Single nucleotide polymorphisms (SNPs) of DNA repair genes are suspected to influence the risk of lung cancer. This study aimed to investigate the association between the ERCC2 751, 312 and ERCC1 118 polymorphisms and the risk of lung adenocarcinoma in Chinese non-smoking females.
  • Target disease:
    Pancreatic Cancer (DOID_1793)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    The XPD 312asp and 751lys alleles were in linkage disequilibrium (p<0.001; d′=0.64 and d′=0.68 for controls and patients, respectively) 
    Effect:
    The XPD gene polymorphism could be a genetic risk modifier for smoking-related pancreatic cancer.
    Alias in reference:
    ERCC2:c.2251A>C(p.Lys751Gln)
    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.
  • Target disease:
    Squamous Cell Carcinoma (DOID_1749)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=2.1; 95% CI: 1.2-3.7 
    Effect:
    The XPD Lys751Gln polymorphism was a significant modifier of the OC-SCC association
    Alias in reference:
    ERCC2:p.Lys751Gln
    Reference:
    PMID19554020
    Title:
    Oral contraceptives: a risk factor for squamous cell carcinoma
    Species studied:
    Human
    Abstract:
    Oral contraceptives (OCs) affect the risk of several cancers in women, but have been virtually unstudied for squamous cell carcinoma (SCC). We examined the hypothesis that OCs influence SCC risk in a case-control study among women and also examined whether polymorphisms in the DNA repair gene, Xeroderma pigmentosum group D (XPD), modified the risk. Incident cases of SCC were identified by a network of dermatologists and pathology laboratories. Population-based controls were frequency matched to cases by age and gender (n=261 SCC cases, 298 controls). Overall, OC use was associated with a 60% higher risk of SCC (odds ratio (OR), 1.6; 95% confidence interval (95% CI): 1.0-2.5). ORs for SCC were higher among those who last used OCs > or =25 years before diagnosis (OR: 2.1; 95% CI: 1.2-3.7), and among these women, SCC risk increased with duration of use (OR for < or =2 years, 1.7; 95% CI: 0.9-3.5; OR for 3-6 years, 2.6; 95% CI: 1.0-6.5; OR for > or =7 years, 2.7; 95% CI: 0.9-8.5, P(trend)=0.01). Furthermore, the XPD Lys751Gln polymorphism was a significant modifier of the OC-SCC association (P(interaction)=0.03). These findings lead us to hypothesize a potential relationship between OCs and SCC risk, and that this could involve DNA repair pathways.