|
rs376603775
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs587782652
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs755009196
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs772821016
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs775248597
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs777741666
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1801516
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These results do not support an impact of ATM rs1801516 on late skin reactions of radiotherapy for breast cancer, nevertheless further large studies are still required for conclusive evidences.
|
31756226 |
2019 |
|
rs1801516
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Five variants were previously reported to confer risk of various malignant or benign tumors (rs78378222 in TP53, rs10069690 in TERT, rs1800057 and rs1801516 in ATM, and rs7907606 at OBFC1) and four signals are located at established risk loci for hormone-related traits (endometriosis and breast cancer) at 1q36.12 (CDC42/WNT4), 2p25.1 (GREB1), 20p12.3 (MCM8), and 6q26.2 (SYNE1/ESR1).
|
30194396 |
2018 |
|
rs1801516
|
|
|
0.100 |
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 |
|
rs1801516
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Four SNPs [rs3218550 (XRCC2), rs6917 (PHB), rs1801516 (ATM), and rs13689 (CDH1)] were significantly associated with risk of breast cancer.
|
29433565 |
2018 |
|
rs1801516
|
|
|
0.100 |
GeneticVariation |
BEFREE |
ATM polymorphisms IVS24-9delT, IVS38-8T>C, and 5557G>A in Mexican women with familial and/or early-onset breast cancer.
|
25014427 |
2014 |
|
rs1801516
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In summary, the meta-analysis suggest that ATM 5557G>A polymorphism is associated with increased breast cancer risk among Amerindians.
|
21603857 |
2012 |
|
rs1801516
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Importance of ATM gene as a susceptible trait: predisposition role of D1853N polymorphism in breast cancer.
|
20396981 |
2011 |
|
rs1801516
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We observed that the ATM 5557G>A polymorphism was significantly correlated with breast cancer risk when all studies were pooled into the meta-analysis (recessive model: odds ratio, OR = 0.67; 95% confidence interval (CI) 0.51-0.89).
|
20665102 |
2011 |
|
rs1801516
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our results indicate that ATM D1853N polymorphism is not a risk factor for developing breast cancer.
|
20799949 |
2010 |
|
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 |
|
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 |
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 |
|
rs1801516
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Homozygote carriers of the G5557A variant were over-represented in RS-BC cases compared with non-RS-BC cases (OR, 6.76; 95% CI, 1.19-38.43).
|
14695186 |
2003 |
|
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 |