|
rs777741666
|
|
Breast Carcinoma
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs775248597
|
|
Breast Carcinoma
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs772821016
|
|
Breast Carcinoma
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs755009196
|
|
Breast Carcinoma
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs587782652
|
|
Breast Carcinoma
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs376603775
|
|
Breast Carcinoma
|
T |
0.700 |
CausalMutation
|
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 |
Nevertheless, two recurrent ATM mutations, T7271G and IVS10-6T-->G, reportedly increase the risk of breast cancer.
|
11830610 |
2002 |
|
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 |
|
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 |
|
rs1801516
|
|
Breast Carcinoma
|
|
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
|
|
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 |
|
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 |
|
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 |
|
rs28904921
|
|
Breast Carcinoma
|
|
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 |
|
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 |
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 |
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
|
|
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 |
|
rs1801516
|
|
Breast Carcinoma
|
|
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
|
|
Breast Carcinoma
|
|
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 |
|
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 |
|
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 |
|
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 |