Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801516
rs1801516
ATM
0.070 GeneticVariation BEFREE ATM rs1801516 polymorphism is not associated with overall cancer risk in total population. 30384829

2018

dbSNP: rs1801516
rs1801516
ATM
0.070 GeneticVariation BEFREE Single Nucleotide Polymorphism rs1801516 in Ataxia Telangiectasia-Mutated Gene Predicts Late Fibrosis in Cancer Patients After Radiotherapy: A PRISMA-Compliant Systematic Review and Meta-Analysis. 27057881

2016

dbSNP: rs1801516
rs1801516
ATM
0.070 GeneticVariation BEFREE Our meta-analyses confirmed the presence of a gene-environment interaction between the rs1801516 polymorphism and radiation exposure in carcinogenesis, whereas no association was found between the rs1801516 polymorphism and cancer risk for individuals without radiation exposure. 27764772

2016

dbSNP: rs1801516
rs1801516
ATM
0.070 GeneticVariation BEFREE Meta-analysis of associations between ATM Asp1853Asn and TP53 Arg72Pro polymorphisms and adverse effects of cancer radiotherapy. 25605158

2014

dbSNP: rs1801516
rs1801516
ATM
0.070 GeneticVariation BEFREE The IVS24-9 T/(-T), IVS38-8 T/C, 5557 G/A composite genotype alone or in combination with certain genetic background and/or environmental factors, could modify the cancer risk by increasing genetic instability or by altering the effect of the normal DNA damage response. 18433505

2008

dbSNP: rs1801516
rs1801516
ATM
0.070 GeneticVariation BEFREE Neither of the two common variants, 5557G>A and ivs38-8T>C, nor any haplotype containing them, was significantly associated with breast cancer risk, bilateral breast cancer or multiple primary cancers in any of the patient groups or subgoups. 16914028

2006

dbSNP: rs1801516
rs1801516
ATM
0.070 GeneticVariation BEFREE Based on the results, we propose a cancer risk-modifying effect for the ATM 5557G-->A, IVS38-8T-->C composite allele. 15756685

2005

dbSNP: rs189037
rs189037
ATM ; NPAT
0.020 GeneticVariation BEFREE Summary results indicated that an association was found between rs189037 and cancer risk. 30709340

2019

dbSNP: rs189037
rs189037
ATM ; NPAT
0.020 GeneticVariation BEFREE Results indicated a significant association of <i>ATM</i> rs189037 with cancer risk. 31201228

2019

dbSNP: rs587776551
rs587776551
ATM
0.010 GeneticVariation BEFREE Compared with 51 patients with classic A-T from the Dutch cohort, patients with <i>ATM</i> c.3576G>A had a longer survival and were less likely to develop cancer, respiratory disease or immunodeficiency. 30819809

2019

dbSNP: rs664143
rs664143
0.010 GeneticVariation BEFREE In the subgroup analysis by region, we also observed that individuals with ATM rs664143 GA or AA genotype had an obvious increased cancer risk among Asian people (GA vs. GG: OR = 1.40, 95% CI 1.20-1.63, AA vs. GG: OR = 1.37, 95% CI 1.16-1.62). 22203481

2012

dbSNP: rs664677
rs664677
ATM
0.010 GeneticVariation BEFREE In the subgroup analysis by cancer type, we observed that the ATM rs664143 polymorphism was significantly associated with lung cancer risk (GA vs. GG: OR = 1.48, 95% CI 1.18-1.85, AA vs. GG: OR = 1.51, 95% CI 1.18-1.93) and rs664677 polymorphism was associated with decreased lung cancr risk and increased breast cancer risk (for lung cancer: TC vs. TT: OR = 0.76, 95% CI 0.62-0.92, CC vs. TT: OR = 0.80, 95% CI 0.64-0.99 and for breast cancer: TC vs. TT: OR = 1.42, 95% CI 1.17-1.73, CC vs. TT: OR = 1.51, 95% CI 1.21-1.87). 22203481

2012

dbSNP: rs564652222
rs564652222
0.010 GeneticVariation BEFREE Genotype/phenotype relationships were compared: three deleterious missense variants were associated with an increased risk of cancer (c.6679C>T, c.7271T>G, and c.8494C>T). 18634022

2009

dbSNP: rs587779872
rs587779872
0.010 GeneticVariation BEFREE Genotype/phenotype relationships were compared: three deleterious missense variants were associated with an increased risk of cancer (c.6679C>T, c.7271T>G, and c.8494C>T). 18634022

2009

dbSNP: rs1800054
rs1800054
ATM
0.010 GeneticVariation BEFREE Multifactorially adjusted hazard ratios for ATM Ser49Cys heterozygotes versus noncarriers were 1.2 (95% CI, 0.9 to 1.5) for cancer overall, 0.8 (95% CI, 0.3 to 2.0) for breast cancer, 4.8 (95% CI, 2.2 to 11) for melanoma, 2.3 (95% CI, 1.1 to 5.0) for prostate cancer, and 3.4 (95% CI, 1.1 to 11) for cancer of the oral cavity/pharynx. 18565893

2008

dbSNP: rs4986761
rs4986761
ATM
0.010 GeneticVariation BEFREE Multifactorially adjusted hazard ratios for ATM Ser707Pro heterozygotes versus noncarriers were 0.8 (95% CI, 0.6 to 1.2) for cancer overall, 0.6 (95% CI, 0.2 to 1.6) for breast cancer, 10 (95% CI, 1.1 to 93) for thyroid/other endocrine tumors, and 2.7 (95% CI, 1.0 to 7.6) for cancer of corpus uteri. 18565893

2008

dbSNP: rs376676328
rs376676328
0.010 GeneticVariation BEFREE Interestingly, results from functional analysis of the breast cancer-associated ATM mutations indicated that cancer susceptibility is not restricted to mutations with dominant-negative effect on kinase activity, displayed only by 7570G>C, whereas 8734A>G showed only a partial defect in the phosphorylation of ATM substrates, and 6903insA seemed to be a null allele. 17166884

2007

dbSNP: rs769142993
rs769142993
0.010 GeneticVariation BEFREE Interestingly, results from functional analysis of the breast cancer-associated ATM mutations indicated that cancer susceptibility is not restricted to mutations with dominant-negative effect on kinase activity, displayed only by 7570G>C, whereas 8734A>G showed only a partial defect in the phosphorylation of ATM substrates, and 6903insA seemed to be a null allele. 17166884

2007

dbSNP: rs1800056
rs1800056
ATM
0.010 GeneticVariation BEFREE Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). 17000706

2006

dbSNP: rs1800057
rs1800057
ATM
0.010 GeneticVariation BEFREE Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). 17000706

2006