Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934576
rs28934576
0.010 GeneticVariation BEFREE Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence. 8336941

1993

dbSNP: rs863224682
rs863224682
0.010 GeneticVariation BEFREE Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence. 8336941

1993

dbSNP: rs1048943
rs1048943
0.100 GeneticVariation BEFREE Association of Ile462Val (Exon 7) polymorphism of cytochrome P450 IA1 with lung cancer in the Asian population: further evidence from a case-control study in Okinawa. 9610791

1999

dbSNP: rs1695
rs1695
0.100 GeneticVariation BEFREE In this study we have addressed the possible role of the Ile105Val GSTP1 polymorphism in lung cancer susceptibility. 10334644

1999

dbSNP: rs587781991
rs587781991
0.010 GeneticVariation BEFREE To investigate the ability of human lung cancer cells to adequately process and present a mutant p53-derived CTL epitope, we transfected the human cell line HMy-2.C1R and the p53-null human lung cancer cell lines H358 and H1299 with an expression vector containing a human mutant p53 (135 Cys to Tyr). 9816244

1999

dbSNP: rs1052133
rs1052133
0.100 GeneticVariation BEFREE hOGG1 Ser326Cys polymorphism and lung cancer susceptibility. 10744126

2000

dbSNP: rs1048943
rs1048943
0.100 GeneticVariation BEFREE CYP1A1 I462V genetic polymorphism and lung cancer risk in a cohort of men in Shanghai, China. 11008920

2001

dbSNP: rs11540654
rs11540654
0.100 GeneticVariation BEFREE The amino acid replacement of arginine by proline at codon 72 of TP53 appears not to be important in determining lung cancer risk in this population. 11097227

2001

dbSNP: rs1799782
rs1799782
0.100 GeneticVariation BEFREE Conversely, individuals with the variant Arg194Trp allele who were alcohol drinkers seemed to be at lower risk for lung cancer compared with those with the homozygous wild-type genotype. 11219768

2001

dbSNP: rs1799793
rs1799793
0.080 GeneticVariation BEFREE We therefore examined XPD polymorphisms at Lys751Gln and Asp312Asn in 341 white lung cancer cases and 360 age-, sex-, ethnicity-, and smoking-matched controls accrued in a hospital-based molecular epidemiological study of susceptibility markers for lung cancer. 11245433

2001

dbSNP: rs25489
rs25489
0.060 GeneticVariation BEFREE In addition, individuals with the variant Arg280His allele who were alcohol drinkers seemed to be at higher risk for lung cancer compared with those with the homozygous wild-type genotype. 11219768

2001

dbSNP: rs369576054
rs369576054
0.010 GeneticVariation BEFREE Functional characterization of naturally occurring mutants (P405R and P425L) of p73alpha and p73beta found in neuroblastoma and lung cancer. 11429704

2001

dbSNP: rs538874513
rs538874513
0.010 GeneticVariation BEFREE Functional characterization of naturally occurring mutants (P405R and P425L) of p73alpha and p73beta found in neuroblastoma and lung cancer. 11429704

2001

dbSNP: rs550227292
rs550227292
0.010 GeneticVariation BEFREE Functional characterization of naturally occurring mutants (P405R and P425L) of p73alpha and p73beta found in neuroblastoma and lung cancer. 11429704

2001

dbSNP: rs1052133
rs1052133
0.100 GeneticVariation BEFREE Association of the hOGG1 Ser326Cys polymorphism with lung cancer risk. 11927502

2002

dbSNP: rs1048943
rs1048943
0.100 GeneticVariation BEFREE The odds ratio (OR) of lung cancer for the variant CYP1A1 Ile(462)Val polymorphism (Ile/Val, Val/Val) was 2.99 [95% confidence interval (95%CI) 1.51-5.91]; this effect was stronger on lung adenocarcinoma (OR 4.85, 95%CI 2.03-11.6). 12771031

2003

dbSNP: rs13181
rs13181
0.100 GeneticVariation BEFREE We have described statistically significant interactions between the ERCC2 polymorphisms (Asp312Asn and Lys751Gln) and smoking in lung cancer risk. 12692111

2003

dbSNP: rs25487
rs25487
0.100 GeneticVariation BEFREE In this case-control study of 1091 Caucasian lung cancer patients and 1240 controls, we explored the gene-environment interactions between the XRCC1 Arg399Gln polymorphism, alone or in combination with the two ERCC2 polymorphisms, and cumulative smoking exposure in the development of lung cancer. 12692111

2003

dbSNP: rs1799793
rs1799793
0.080 GeneticVariation BEFREE We have described statistically significant interactions between the ERCC2 polymorphisms (Asp312Asn and Lys751Gln) and smoking in lung cancer risk. 12692111

2003

dbSNP: rs17655
rs17655
0.030 GeneticVariation BEFREE We investigated the relationship between the His1104Asp polymorphism in the XPG gene and the risk of lung cancer. 12869423

2003

dbSNP: rs1048943
rs1048943
0.100 GeneticVariation BEFREE In summary, our case-control study of lung cancer among women in northeast China revealed an elevated risk associated with the CYP1A1 I462V genotype, but no interaction with smoking or indoor air pollution was found. 15363546

2004

dbSNP: rs13181
rs13181
0.100 GeneticVariation BEFREE Among men, carriers of the variant allele of XPD Lys751Gln had a non-significantly increased risk of lung cancer in the youngest age interval (RR=6.38, 95% CI=0.74-54.90). 14757194

2004

dbSNP: rs1695
rs1695
0.100 GeneticVariation BEFREE In a population-based case-cohort study where cases and the subcohort sample were matched on duration of smoking, we investigated the occurrence of lung cancer and histological subtypes of lung cancer in relation to deletion polymorphism in both GSTM1 and GSTT1, single nucleotide polymorphisms (SNPs) in GSTP1 (Ile105Val and Ala114Val) and a 3 base pair deletion polymorphism in GSTM3. 15069685

2004

dbSNP: rs25487
rs25487
0.100 GeneticVariation BEFREE Gene-environment interactions between the smoking habit and polymorphisms in the DNA repair genes, APE1 Asp148Glu and XRCC1 Arg399Gln, in Japanese lung cancer risk. 15044328

2004

dbSNP: rs1799793
rs1799793
0.080 GeneticVariation BEFREE In a case-cohort study, we have investigated the occurrence of lung cancer in relation to a high-risk haplotype, previously identified for breast cancer among post-menopausal women, and in relation to the closely linked polymorphisms XPD Asp312Asn and Lys751Gln. 14757194

2004