|
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 |
|
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 |
No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer.
|
12473176 |
2002 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs730881333
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017).
|
27595995 |
2016 |
|
rs664677
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
ATM rs664677 polymorphism was associated with decreased lung cancer risk as well as increased breast cancer risk.
|
22203481 |
2012 |
|
rs624366
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
In this hospital-based matched case-control study, associations of seven ATM single nucleotide polymorphisms (rs600931, rs652311, rs227060, rs227292, rs624366 and rs189037) with breast cancer risk in a Taiwanese population were investigated.
|
21187516 |
2010 |
|
rs369642243
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We found three novel allelic variants: IVS64 + 51delT and p.L752L, not showing association with hereditary breast cancer, and p.L694L found in one family in two breast cancer patients.
|
17351744 |
2008 |
|
rs3092856
|
|
Breast Carcinoma
|
|
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 |
|
rs228595
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
We identified a region on 11q22.3 that is significantly associated with breast cancer risk in BRCA1 mutation carriers (most significant SNP rs228595 p = 7 × 10<sup>-6</sup>).
|
27796716 |
2017 |
|
rs2227924
|
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Although a single missense variant (L546V) appeared to act as a modest predictor of risk, the remaining variants were no more common in breast cancer cases as compared with controls.
|
12917204 |
2003 |
|
rs1801673
|
|
Breast Carcinoma
|
|
0.010 |
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 |
|
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 |
|
rs777741666
|
|
Breast Carcinoma
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs755009196
|
|
Breast Carcinoma
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs587782652
|
|
Breast Carcinoma
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
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 |
|
rs28904921
|
|
Breast Carcinoma
|
|
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
|
|
Breast Carcinoma
|
|
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
|
|
Breast Carcinoma
|
|
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 |