|
rs587782652
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs755009196
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs777741666
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs28904921
|
|
|
0.080 |
GeneticVariation |
BEFREE |
For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10<sup>-5</sup>), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10<sup>-8</sup>) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012).
|
27595995 |
2016 |
|
rs28904921
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Based on these results, we propose that all female carriers of 40-50 years of age and female ATM c.7271T>G mutation carriers from 25 years of age onwards be offered intensified surveillance programs for breast cancer.
|
26662178 |
2016 |
|
rs28904921
|
|
|
0.080 |
GeneticVariation |
BEFREE |
We validated the expression differences by RT-PCR in additional heterozygous V2424G LCLs from another breast cancer family.
|
17001622 |
2006 |
|
rs28904921
|
|
|
0.080 |
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
|
|
|
0.080 |
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 |
|
rs28904921
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Recent reports suggest that two ATM gene mutations, 7271T>G and IVS10-6T>G, are associated with a high risk of breast cancer among multiple-case families.
|
14562025 |
2003 |
|
rs28904921
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Nevertheless, two recurrent ATM mutations, T7271G and IVS10-6T-->G, reportedly increase the risk of breast cancer.
|
11830610 |
2002 |
|
rs28904921
|
|
|
0.080 |
GeneticVariation |
BEFREE |
We report, in two A-T families, an ATM mutation (7271T-->G) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=.
|
9463314 |
1998 |
|
rs11212617
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The <i>C</i> Allele of <i>ATM</i> rs11212617 Associates With Higher Pathological Complete Remission Rate in Breast Cancer Patients Treated With Neoadjuvant Metformin.
|
30984619 |
2019 |
|
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 |
|
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 |
|
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 |
|
rs587779852
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the combined analysis, E1978X was significantly associated with breast cancer (Mantel-Haenszel OR: 5.6, 95% CI: 1.3-21.4, P = 0.01).
|
18807267 |
2009 |
|
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 |