Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934576
rs28934576
0.030 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: rs11540652
rs11540652
0.020 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: rs1019340046
rs1019340046
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: 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

1996

dbSNP: rs1048943
rs1048943
0.100 GeneticVariation BEFREE Thus, this study gives support to the value of the cytochrome P450 IA1 Ile462Val polymorphism as a practical high-risk marker of lung cancer in populations, especially those in southeast Asia, in which this variant is more common. 9610791

1998

dbSNP: rs1052133
rs1052133
0.100 GeneticVariation BEFREE We, therefore, examined allele distributions of the Ser326Cys polymorphism in a case-control study of male lung cancer in Okinawa. 10744126

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: rs28934576
rs28934576
0.030 GeneticVariation BEFREE Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53RE). A comparative study between the p53REs of the MDM2, WAFI/Cip1 and Bax genes in the lung cancer environment. WAFI/Cip1 = WAF1/Cip1. 10226602

1999

dbSNP: rs1174612410
rs1174612410
0.010 GeneticVariation BEFREE Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53RE). A comparative study between the p53REs of the MDM2, WAFI/Cip1 and Bax genes in the lung cancer environment. WAFI/Cip1 = WAF1/Cip1. 10226602

1999

dbSNP: rs774352237
rs774352237
0.010 GeneticVariation BEFREE Modulation of wild-type p53 activity by mutant p53 R273H depends on the p53 responsive element (p53RE). A comparative study between the p53REs of the MDM2, WAFI/Cip1 and Bax genes in the lung cancer environment. WAFI/Cip1 = WAF1/Cip1. 10226602

1999

dbSNP: rs1042522
rs1042522
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

2000

dbSNP: rs1048943
rs1048943
0.100 GeneticVariation BEFREE In this Chinese cohort, with CYP1A1 valine allele frequency intermediate between Japanese and Caucasian populations, the I462V polymorphism is not related to lung cancer overall, but it might play a role at lower levels of cigarette smoking among subjects with impaired carcinogen detoxification as assessed by the GSTM1-null genotype. 11008920

2000

dbSNP: rs1131691014
rs1131691014
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

2000

dbSNP: rs878854066
rs878854066
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

2000

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE However, we found no evidence for an association between the MTHFR C677T and A1298C polymorphisms and risk of lung cancer in either all of the subjects or the low folate intake subgroup; nor did we find evidence for an interaction between these two MTHFR polymorphisms and dietary folate intake or alcohol use. 11319182

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
0.100 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
0.100 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: rs397507444
rs397507444
0.090 GeneticVariation BEFREE However, we found no evidence for an association between the MTHFR C677T and A1298C polymorphisms and risk of lung cancer in either all of the subjects or the low folate intake subgroup; nor did we find evidence for an interaction between these two MTHFR polymorphisms and dietary folate intake or alcohol use. 11319182

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: 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: rs1799782
rs1799782
0.100 GeneticVariation BEFREE In addition, the Arg194Trp variant reduced the risk of lung cancer associated with increased serum carotenoids compared to those with the homozygous wild-type allele. 12680158

2003