|
Breast Carcinoma
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Breast Carcinoma
|
0.500 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Breast Carcinoma
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Breast Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
The ATM gene and susceptibility to breast cancer: analysis of 38 breast tumors reveals no evidence for mutation.
|
8665503 |
1996 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We conclude that heterozygous ATM mutations do not confer genetic predisposition to early onset of breast cancer.
|
9054948 |
1997 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We present a simple and rapid polymerase chain reaction (PCR)-based assay for this dimorphism that should be useful to trace the inheritance of ATM alleles in ataxia telangiectasia and breast cancer families and to study loss of heterozygosity in primary tumours.
|
9076718 |
1997 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
If the estimate that 4% of breast cancer cases are A-T gene carriers is correct, then ATM mutations do not confer clinical radiosensitivity.
|
9413938 |
1997 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Loss of heterozygosity (LOH) in the chromosome band 11q23, where the ATM gene is located, has been reported in several types of tumours including breast carcinomas.
|
9071570 |
1997 |
|
Breast Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Testing for the ATM gene is unlikely to be useful for predicting clinical response to radiotherapy in breast cancer patients.
|
9683358 |
1998 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
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 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, germline mutations in the ATM gene are rare in women with sporadic breast carcinomas.
|
9766563 |
1998 |
|
Breast Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
We conclude that ATM gene defects are not the major cause of radiotherapy complications in women with breast cancer.
|
9764584 |
1998 |
|
Breast Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
ATM heterozygotes are thought to have a high tendency to develop malignancies, such as breast cancer.
|
9592204 |
1998 |
|
Breast Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
To facilitate the evaluation of ATM heterozygotes for susceptibility to other diseases, such as breast cancer, we have attempted to define the most common mutations and their frequencies in ataxia-telangiectasia (A-T) homozygotes from 10 ethnic populations.
|
9443866 |
1998 |
|
Breast Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
To further examine the possibility that ATM is correlated to breast cancer, we screened for ATM germ-line mutations in another 100 breast cancer patients with a family history of breast cancer.
|
9537233 |
1998 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although not significant (p = 0.045; chi 2 test), some sporadic breast carcinomas (14 of 42) also had reduced or absent ATM protein immunoreactivity.
|
10748873 |
1999 |
|
Breast Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
ATM was chosen for evaluation because of the increased radiosensitivity of cells derived from AT patients and obligate heterozygotes and the epidemiologic observation that AT carriers are at increased risk for radiation-induced breast cancer.
|
10561187 |
1999 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Thus, our procedure identified at least one allelic variant of ATM associated with breast cancer, and indicated that the ATM locus may interact with HRAS1.
|
10464642 |
1999 |
|
Breast Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
A common assumption has been that the target for the LOH at 11q23.1 in breast carcinoma is the ATM gene, but the area studied has been too large, the density of markers too low, and the number of tumors studied has been too small to draw any firm conclusions.
|
10379867 |
1999 |
|
Breast Carcinoma
|
0.500 |
PosttranslationalModification
|
disease |
BEFREE |
This high rate of somatic inactivation of ATM may indicate either that these rare variants play a role in breast cancer development or alternatively that a neighboring tumor suppressor gene is important for tumorigenesis.
|
10534763 |
1999 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our understanding of the molecular basis of familial breast cancer has advanced significantly through investigation of the tumor suppressor gene BRCA1, as has our knowledge of the role of the ATM gene and predisposition to breast cancer in ataxia-telangiectasia carriers.
|
10550005 |
1999 |
|
Breast Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Thus, phosphorylation of Brca1 by the checkpoint kinase ATM may be critical for proper responses to DNA double-strand breaks and may provide a molecular explanation for the role of ATM in breast cancer.
|
10550055 |
1999 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The BC relative risk is statistically borderline among the obligate ATM heterozygote female relatives with an age > or = 45 years (RR = 2.48, P = 0.08).
|
10362113 |
1999 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The data suggest that truncating mutations in the ATM gene are not a major component underlying the increased risk of breast cancer following Hodgkin's disease.
|
10866292 |
2000 |