Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750217
rs63750217
0.010 GeneticVariation BEFREE No germline mutation was found in the whole coding sequences of hMSH2 and hMTH1, or in the conservative regions of hMLH1 in any patient, while one cancer DNA showed a somatic mutation at codon 682 (threonine to alanine) in hMSH2. 8766523

1996

dbSNP: rs63751002
rs63751002
0.010 GeneticVariation BEFREE No germline mutation was found in the whole coding sequences of hMSH2 and hMTH1, or in the conservative regions of hMLH1 in any patient, while one cancer DNA showed a somatic mutation at codon 682 (threonine to alanine) in hMSH2. 8766523

1996

dbSNP: rs1051740
rs1051740
0.050 GeneticVariation BEFREE Seventy-three Caucasian patients with ovarian cancer and 75 Caucasian-female controls without cancer were genotyped for the Tyr113His polymorphism by a polymerase chain reaction-restriction fragment length polymorphism assay. 8944076

1996

dbSNP: rs1800709
rs1800709
0.020 GeneticVariation BEFREE Testing of a sample of 413 unrelated individuals to examine the hypothesis that R841W might be a rare polymorphism detected one additional instance in a woman with breast cancer diagnosed at age 77 years, and cancer in one parent. 8968716

1996

dbSNP: rs149308960
rs149308960
0.010 GeneticVariation BEFREE Three patients with a family history of cancer were carrying a Gly160Cys germline substitution. 9195227

1997

dbSNP: rs1799930
rs1799930
0.030 GeneticVariation BEFREE The extraction method was combined with newly designed PCR-based assays for cancer susceptibility marker genes such as CYP1A1 (exon 7), CYP2E1 (Dra1, Rsa1), GSTM1 and NAT2 [NAT2*5A (C481T), NAT2*6A (G590A), NAT2*7A (G857A)]. 9214613

1997

dbSNP: rs1799931
rs1799931
0.020 GeneticVariation BEFREE The extraction method was combined with newly designed PCR-based assays for cancer susceptibility marker genes such as CYP1A1 (exon 7), CYP2E1 (Dra1, Rsa1), GSTM1 and NAT2 [NAT2*5A (C481T), NAT2*6A (G590A), NAT2*7A (G857A)]. 9214613

1997

dbSNP: rs1799929
rs1799929
0.010 GeneticVariation BEFREE The extraction method was combined with newly designed PCR-based assays for cancer susceptibility marker genes such as CYP1A1 (exon 7), CYP2E1 (Dra1, Rsa1), GSTM1 and NAT2 [NAT2*5A (C481T), NAT2*6A (G590A), NAT2*7A (G857A)]. 9214613

1997

dbSNP: rs28897672
rs28897672
0.020 GeneticVariation BEFREE The cancer-predisposing mutation C61G disrupts homodimer formation in the NH2-terminal BRCA1 RING finger domain. 9525870

1998

dbSNP: rs1800709
rs1800709
0.020 GeneticVariation BEFREE The approach is demonstrated in two cancer data sets: BRCA1 R841W and APC I1307K. 9585599

1998

dbSNP: rs1322051434
rs1322051434
APC
0.010 GeneticVariation BEFREE The approach is demonstrated in two cancer data sets: BRCA1 R841W and APC I1307K. 9585599

1998

dbSNP: rs1463038513
rs1463038513
APC
0.100 GeneticVariation BEFREE In the Ashkenazi Jewish population, the I1307K allele is unlikely to increase the risk of ovarian cancer or of cancer in general. 9679945

1998

dbSNP: rs1801155
rs1801155
APC
0.100 GeneticVariation BEFREE In the Ashkenazi Jewish population, the I1307K allele is unlikely to increase the risk of ovarian cancer or of cancer in general. 9679945

1998

dbSNP: rs587782529
rs587782529
0.010 GeneticVariation BEFREE Thus, the R337C mutant retains some functional activity yet leads to a predisposition to cancer, suggesting that even partial inactivation of p53 oligomerization is sufficient for accelerated tumour progression. 9704931

1998

dbSNP: rs1463038513
rs1463038513
APC
0.100 GeneticVariation BEFREE To evaluate the role of I1307K in cancer, we genotyped 5,081 Ashkenazi volunteers in a community survey. 9731533

1998

dbSNP: rs1801155
rs1801155
APC
0.100 GeneticVariation BEFREE To evaluate the role of I1307K in cancer, we genotyped 5,081 Ashkenazi volunteers in a community survey. 9731533

1998

dbSNP: rs1171303257
rs1171303257
ALB
0.010 GeneticVariation BEFREE The genotype spectrum discriminated on this strip includes the high-risk, or cancer-associated, HPV genotypes 16, 18, 26, 31, 33, 35, 39, 45, 51, 52, 55, 56, 58, 59, 68 (ME180), MM4 (W13B), MM7 (P291), and MM9 (P238A) and the low-risk, or non-cancer-associated, genotypes 6, 11, 40, 42, 53, 54, 57, 66, and MM8 (P155). 9738060

1998

dbSNP: rs1463038513
rs1463038513
APC
0.100 GeneticVariation BEFREE In addition, in this family, there appears to be no relationship between the I1307K polymorphism and the presence or absence of cancer. 9831355

1998

dbSNP: rs1801155
rs1801155
APC
0.100 GeneticVariation BEFREE In addition, in this family, there appears to be no relationship between the I1307K polymorphism and the presence or absence of cancer. 9831355

1998

dbSNP: rs1463038513
rs1463038513
APC
0.100 GeneticVariation BEFREE Recently, a germline missense mutation, I1307K, was identified in the adenomatous polyposis coli (APC) gene that was suggested to increase cancer predisposition in Ashkenazi Jews. 9869603

1999

dbSNP: rs1801155
rs1801155
APC
0.100 GeneticVariation BEFREE Recently, a germline missense mutation, I1307K, was identified in the adenomatous polyposis coli (APC) gene that was suggested to increase cancer predisposition in Ashkenazi Jews. 9869603

1999

dbSNP: rs1463038513
rs1463038513
APC
0.100 GeneticVariation BEFREE Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism. 9973276

1999

dbSNP: rs1801155
rs1801155
APC
0.100 GeneticVariation BEFREE Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism. 9973276

1999

dbSNP: rs1188383936
rs1188383936
F2
0.020 GeneticVariation BEFREE This study evaluated the prevalence of factor V Leiden (FVL, 1691G-->A), the most common inherited thrombophilic state, the prothrombin 20210G-->A polymorphism, and the thermolabile methylene tetrahydrofolate reductase (MTHFR, 677C-->T) variant in a group of children in whom ON developed during or after treatment for cancer. 10064667

1999

dbSNP: rs751377893
rs751377893
F5
0.010 GeneticVariation BEFREE This study evaluated the prevalence of factor V Leiden (FVL, 1691G-->A), the most common inherited thrombophilic state, the prothrombin 20210G-->A polymorphism, and the thermolabile methylene tetrahydrofolate reductase (MTHFR, 677C-->T) variant in a group of children in whom ON developed during or after treatment for cancer. 10064667

1999