|
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 |
|
rs1131691164
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1137887
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1185204988
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs138941496
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
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 |
|
rs139770721
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1555069815
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1555070980
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1555093684
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1555119041
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1565503137
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs17174393
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1800054
|
|
|
0.040 |
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
|
|
|
0.040 |
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs1800057
|
|
|
0.040 |
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 |
|
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 |
|
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 |
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 |