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 |
rs28904921
|
|
|
0.780 |
GeneticVariation |
BEFREE |
We conclude that the ATM IVS10-6T-->G mutation does not confer a significantly elevated breast cancer risk and that ATM 7271T-->G is a rare event in familial breast cancer.
|
14871810 |
2004 |
rs1800057
|
|
|
0.040 |
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 |
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 |
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 |
rs28904921
|
|
|
0.780 |
GeneticVariation |
BEFREE |
These findings suggest that although the more common c.1066-6T>G variant is not associated with breast cancer, the rare ATM c.7271T>G variant is associated with a substantially elevated risk.
|
16958054 |
2006 |
rs28904921
|
|
|
0.780 |
GeneticVariation |
BEFREE |
We validated the expression differences by RT-PCR in additional heterozygous V2424G LCLs from another breast cancer family.
|
17001622 |
2006 |
rs1801516
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our results do not support association of the 5557G>A or ivs38-8T>C variant with increased breast cancer risk or with bilateral breast cancer.
|
16914028 |
2006 |
rs1801516
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The results of this study suggest an association between the ATM codon 1853 Asn/Asp and Asn/Asn genotypes with the development of Grade 3 fibrosis in breast cancer patients treated with radiotherapy.
|
16338099 |
2006 |
rs1800054
|
|
|
0.040 |
GeneticVariation |
BEFREE |
These analyses provide the most convincing evidence thus far that missense mutations in ATM, particularly p.S49C, may be breast cancer susceptibility alleles.
|
16652348 |
2006 |
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 |
rs1800054
|
|
|
0.040 |
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 |
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 |
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 |
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 |
rs1801516
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The IVS24-9 T/(-T), IVS38-8 T/C, 5557 G/A composite genotype confered a 3.19 fold increase in brea</span>st cancer risk (OR = 3.19 [95%CI 1.16-8.89], p = 0.021).
|
18433505 |
2008 |
rs1801516
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The results of this study might suggest a minor association between polymorphism 5557G>A and a reduced risk of breast cancer.
|
18264724 |
2008 |
rs1800054
|
|
|
0.040 |
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 |
rs1800057
|
|
|
0.040 |
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 |
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 |
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 |
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 |