|
rs376603775
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs772821016
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs775248597
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
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 |
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 |
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 |
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 |
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 |
Importance of ATM gene as a susceptible trait: predisposition role of D1853N polymorphism in breast cancer.
|
20396981 |
2011 |
|
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 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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
|
|
|
0.050 |
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 |
|
rs1800054
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We tested gene-environment interactions in 7610 women who developed breast cancer and 10 196 controls without the disease, studying the effects of 12 polymorphisms (FGFR2-rs2981582, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, 2p-rs4666451, 5p12-rs981782, CASP8-rs1045485, LSP1-rs3817198, 5q-rs30099, TGFB1-rs1982073, and ATM-rs1800054) in relation to prospectively collected information about ten established environmental risk factors (age at menarche, parity, age at first birth, breastfeeding, menopausal status, age at menopause, use of hormone replacement therapy, body-mass index, height, and alcohol consumption).
|
20605201 |
2010 |
|
rs1800054
|
|
|
0.050 |
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 |
|
rs1800054
|
|
|
0.050 |
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 |
|
rs1800054
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Additional studies are needed to evaluate the potential functional consequences of the Ser49Cys substitution and confirm the relevance of this variant in the development of breast carcinoma.
|
15042666 |
2004 |
|
rs1800057
|
|
|
0.040 |
GeneticVariation |
BEFREE |
No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer.
|
12473176 |
2002 |
|
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 |
|
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 |