|
rs28904921
|
|
Breast Carcinoma
|
|
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
|
|
Breast Carcinoma
|
|
0.080 |
GeneticVariation
|
BEFREE |
Nevertheless, two recurrent ATM mutations, T7271G and IVS10-6T-->G, reportedly increase the risk of breast cancer.
|
11830610 |
2002 |
|
rs28904921
|
|
Breast Carcinoma
|
|
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 |
|
rs1800054
|
|
Breast Carcinoma
|
|
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
|
|
Breast Carcinoma
|
|
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
|
|
Breast Carcinoma
|
|
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
|
|
Breast Carcinoma
|
|
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
|
|
Breast Carcinoma
|
|
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
|
|
Breast Carcinoma
|
|
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
|
|
Breast Carcinoma
|
|
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
|
|
Breast Carcinoma
|
|
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
|
|
Breast Carcinoma
|
|
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 |
|
rs1800058
|
|
Breast Carcinoma
|
|
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 |
|
rs1800058
|
|
Breast Carcinoma
|
|
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
|
|
Breast Carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
In addition, one missense variant, L1420F, was observed in 13 HBOC families (4.8%) but was not observed in any of the 122 healthy volunteers with no history of breast cancer.
|
12810666 |
2003 |
|
rs4986761
|
|
Breast Carcinoma
|
|
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 |
|
rs4986761
|
|
Breast Carcinoma
|
|
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
|
|
Breast Carcinoma
|
|
0.030 |
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 |
|
rs1800056
|
|
Breast Carcinoma
|
|
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 |
|
rs1800056
|
|
Breast Carcinoma
|
|
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 |
|
rs189037
|
|
Breast Carcinoma
|
|
0.020 |
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 |
|
rs189037
|
|
Breast Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our data indicate that ATM polymorphism is associated with breast cancer, and the A allele of ATM rs189037 is a minor risky biomarker of breast cancer in Taiwan.
|
21187516 |
2010 |
|
rs228589
|
|
Breast Carcinoma
|
|
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 |
|
rs228589
|
|
Breast Carcinoma
|
|
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 |
|
rs1003623
|
|
Breast Carcinoma
|
|
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 |