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rs139379666
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a missense variant (rs139379666, P2974L; AF = 0.09% for breast cancer cases, but none for controls) in the <i>ATM</i> gene for breast cancer risk using combing data from 7,204 breast cancer cases and 9,593 controls (<i>P</i> = 1.7 × 10<sup>-5</sup>).
|
31160347 |
2019 |
|
rs3092856
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In haplotype analysis, haplotypes A-C-G-G (in order of rs189037, rs3092856, rs1801516 and rs373759) and A-C-A-A in ATM gene were significantly associated with 1.98-fold and 6.04-fold increased risk of breast cancer (95% CI: 1.36-2.90 and 1.65-22.08, respectively).
|
29691986 |
2018 |
|
rs373759
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In haplotype analysis, haplotypes A-C-G-G (in order of rs189037, rs3092856, rs1801516 and rs373759) and A-C-A-A in ATM gene were significantly associated with 1.98-fold and 6.04-fold increased risk of breast cancer (95% CI: 1.36-2.90 and 1.65-22.08, respectively).
|
29691986 |
2018 |
|
rs228595
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a region on 11q22.3 that is significantly associated with breast cancer risk in BRCA1 mutation carriers (most significant SNP rs228595 p = 7 × 10<sup>-6</sup>).
|
27796716 |
2017 |
|
rs730881333
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017).
|
27595995 |
2016 |
|
rs664143
|
|
|
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 |
|
rs664677
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ATM rs664677 polymorphism was associated with decreased lung cancer risk as well as increased breast cancer risk.
|
22203481 |
2012 |
|
rs624366
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this hospital-based matched case-control study, associations of seven ATM single nucleotide polymorphisms (rs600931, rs652311, rs227060, rs227292, rs624366 and rs189037) with breast cancer risk in a Taiwanese population were investigated.
|
21187516 |
2010 |
|
rs1801673
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four of these 15 variants were individually associated with a significantly decreased risk of second primary breast cancer [c.1899-55T>G, rate ratio (RR), 0.5; 95% confidence interval (CI), 0.3-0.8; c.3161C>G, RR, 0.5; 95% CI, 0.3-0.9; c.5558A>T, RR, 0.2; 95% CI, 0.1-0.6; c.6348-54T>C RR, 0.2; 95% CI, 0.1-0.8].
|
18701470 |
2008 |
|
rs369642243
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found three novel allelic variants: IVS64 + 51delT and p.L752L, not showing association with hereditary breast cancer, and p.L694L found in one family in two breast cancer patients.
|
17351744 |
2008 |
|
rs1003623
|
|
|
0.010 |
GeneticVariation |
BEFREE |
For the rs1003623, the T allele was associated with an increased breast cancer risk among postmenopausal women with odds ratios (ORs) of 1.4 (95% Confidence Intervals (CIs) = 1.0-1.9) for the CT and 1.6 (95% CIs = 1.0-2.4) for the TT, (P for trend = 0.03).
|
17431766 |
2007 |
|
rs376676328
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Additionally, 8734A>G (Arg2912Gly) associated previously with breast</span> cancer susceptibility and suggested to be causative also for A-T was detected in 2/541 of familial cases, but not in unselected cases (0/1124) or controls (0/1107).
|
17166884 |
2007 |
|
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 |
|
rs2227924
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although a single missense variant (L546V) appeared to act as a modest predictor of risk, the remaining variants were no more common in breast cancer cases as compared with controls.
|
12917204 |
2003 |
|
rs189037
|
|
|
0.020 |
GeneticVariation |
BEFREE |
After adjustment, rs189037 and rs1801516 were significantly associated with breast cancer under the additive model (OR: 1.37 and 1.52, 95% CI: 1.10-1.71 and 1.14-2.04, P: .005 and .005, respectively).
|
29691986 |
2018 |
|
rs189037
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our data indicate that ATM polymorphism is associated with breast cancer, and the A allele of ATM rs189037 is a minor risky biomarker of breast cancer in Taiwan.
|
21187516 |
2010 |
|
rs1800056
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two amino acid substitutions p.S707P and p.F858L, previously reported to be associated with breast cancer, were present in our study in cases and controls, lacking of association with breast cancer.
|
17351744 |
2008 |
|
rs228589
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We evaluated two reported nonsynonymous SNPs (rs1800054 and rs1800058) and three additional common gene variants (rs664143, rs228589, rs1003623) in the ATM gene in relation to breast cancer risk.
|
17431766 |
2007 |
|
rs228589
|
|
|
0.020 |
GeneticVariation |
BEFREE |
One SNP (rs228589) was significantly more prevalent among breast cancer cases compared with controls (P=4 x 10(-9)), and one discriminative ATM haplotype was significantly more prevalent among breast cancer cases (33.3%) compared with controls (3.8%), (P< or =10(-10)).
|
16622469 |
2006 |
|
rs1800056
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Within the BC lines studied, the group composed of the six carrying the linked 2572T>C (858F>L) and 3161C>G (1054P>R) variants had a higher level of MN after IR exposure compared to that observed in the remaining four BC or in the normal cell lines.
|
15101044 |
2004 |
|
rs4986761
|
|
|
0.030 |
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 |
|
rs4986761
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Two amino acid substitutions p.S707P and p.F858L, previously reported to be associated with breast cancer, were present in our study in cases and controls, lacking of association with breast cancer.
|
17351744 |
2008 |
|
rs1800058
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We evaluated two reported nonsynonymous SNPs (rs1800054 and rs1800058) and three additional common gene variants (rs664143, rs228589, rs1003623) in the ATM gene in relation to breast cancer risk.
|
17431766 |
2007 |
|
rs1800058
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In conclusion, we found no evidence that the ATM c.4258C>T variant increases breast cancer risk, and little evidence that c.1066-6T>G confers an elevated risk.
|
15880680 |
2005 |
|
rs1800058
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In addition, one missense variant, L1420F, was observed in 13 HBOC families (4.8%) but was not observed in any of the 122 healthy volunteers with no history of breast cancer.
|
12810666 |
2003 |