|
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
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 |
|
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These data validate p53-MCL as reliable and specific test for germline ATM variants, confirm ATM as breast cancer susceptibility gene, and highlight a possible association with breast/thyroid cancers.
|
27599564 |
2016 |
|
Malignant neoplasm of breast
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Reduced expression of ATM and MSH2 compromises DNA repair capacity and, thereby, increases breast cancer prevalence.
|
27466510 |
2016 |
|
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
Cytotoxicity of PARP inhibitor and ATM inhibitor in breast cancer cell lines was assessed by MTS, colony formation and apoptosis assays.
|
27613518 |
2016 |
|
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We estimated the cumulative risk of BC in heterozygous ATM mutation carriers to be 6.02% by 50 years of age (95% credible interval: 4.58-7.42%) and 32.83% by 80 years of age (95% credible interval: 24.55-40.43%).
|
27112364 |
2016 |
|
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Assuming a constant relative risk of breast cancer across age groups, only variants in CDH1, CHEK2, PALB2 and TP53 showed evidence of a significantly increased risk of breast cancer, with some supportive evidence that mutations in ATM confer moderate risk.
|
26534844 |
2016 |
|
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The predicted average BC risk by age 80 for an ATM mutation carrier is 28%, 30% for CHEK2, 50% for PALB2, and 74% for BRCA1 and BRCA2.
|
27464310 |
2016 |
|
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
Furthermore, by performing global sensitivity analysis on the landscape topography, six key genes (HER2, MDM2, TP53, BRCA1, ATM, CDK2) and four regulations (HER2⊣TP53, CDK2⊣BRCA1, ATM→MDM2, TP53→ATM) were identified as being critical for breast cancer.
|
27410227 |
2016 |
|
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Based on these results, we propose that all female carriers of 40-50 years of age and female ATM c.7271T>G mutation carriers from 25 years of age onwards be offered intensified surveillance programs for breast cancer.
|
26662178 |
2016 |
|
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This meta-analysis suggests that AA genotype of the ATM-111 gene (G>A) may be a risk factor for breast cancer and lung cancer, especially among nonsmokers, within the Chinese population.
|
27227554 |
2016 |
|
Malignant neoplasm of breast
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Although sporadic mutation of ATM occurs rarely in breast cancer, the status of its protein expression and its clinical significance in breast cancer remain not well established.
|
25935535 |
2015 |
|
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In the breast cancer probands, mutations were most commonly observed in CHEK2 (n=9; 2.54%), ATM (n=3; 0.85%), and TP53 (n=3; 0.85%).
|
25622547 |
2015 |
|
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
Targeting BRCA1-BER deficient cells by blockade of ATM and DNA-PKcs could be a promising strategy in breast cancer.
|
25205036 |
2015 |
|
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
In support of this hypothesis, we have previously shown inactivation of either TP53 or its key activators CHK2 and ATM to predict resistance to DNA damaging drugs in breast cancer better than TP53 mutations alone.
|
26004085 |
2015 |
|
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
ATM kinase sustains HER2 tumorigenicity in breast cancer.
|
25881002 |
2015 |
|
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Using western blotting it was shown that GA inhibited the protein expressions of MDC1, O(6)-methylguanine-DNA methyltransferase (MGMT), p-H2A.X, p53, DNA-dependent serine/threonine protein kinase (DNA-PK) and 14-3-3 proteins sigma (14-3-3σ) but increased p-p53, phosphate-ataxia-telangiectasia (p-H2A.X) and ataxia telangiectasia mutated and Rad3-related (p-ATR), phosphate-ataxia telangiectasia mutated (p-ATM) and breast cancer susceptibility protein 1 (BRCA1) in a 24-h treatment.
|
25862863 |
2015 |
|
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Consequently, new genes have emerged as breast cancer susceptibility genes, including rare germline mutations in high penetrant genes, such as TP53 and PTEN, and more frequent mutations in moderate penetrant genes, such as CHEK2, ATM and PALB2.
|
25467110 |
2015 |
|
Malignant neoplasm of breast
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Notch1 and ATM activation are inversely correlated in human breast cancers, and inactivation of ATM by Notch1 contributes to the survival of Notch1-driven leukemia cells upon DNA damage.
|
25895060 |
2015 |
|
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
We further show that knockdown of ATM in MDA-MB-231, a breast cancer line with a pronounced mesenchymal phenotype, results in the reversion of these cells to an epithelial morphology and gene expression pattern.
|
25862169 |
2015 |
|
Malignant neoplasm of breast
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Finally, miR-203 may be responsible for downregulation of ATM in breast cancers.
|
25742469 |
2015 |
|
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
To test this hypothesis, we investigated 1406 ER(+) early-stage breast cancers with 20 years' long-term clinical follow-up data for DNA polymerase β (pol β), flap endonuclease 1 (FEN1), AP endonuclease 1 (APE1), X-ray cross-complementation group 1 protein (XRCC1), single-strand monofunctional uracil glycosylase-1 (SMUG1), poly (ADP-ribose) polymerase 1 (PARP1), ataxia telangiectasia mutated and Rad3 related (ATR), ataxia telangiectasia mutated (ATM), DNA-dependent protein kinase catalytic subunit (DNA-PKcs), Chk1, Chk2, p53, breast cancer susceptibility gene 1 (BRCA1), and topoisomerase 2 (TOPO2) expression.
|
25111287 |
2014 |
|
Malignant neoplasm of breast
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Low nuclear ATM protein level was significantly associated with aggressive breast cancer including larger tumors, higher tumor grade, higher mitotic index, pleomorphism, tumor type, lymphovascular invasion, estrogen receptor (ER)-, PR -, AR -, triple-negative, and basal-like phenotypes (Ps < .05).
|
25425972 |
2014 |
|
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we address two related questions: (1) are some rare MRN variants intermediate-risk breast cancer susceptibility alleles, and if so (2) do the MRN genes follow a BRCA1/BRCA2 pattern wherein most susceptibility alleles are protein-truncating variants, or do they follow an ATM/CHEK2 pattern wherein half or more of the susceptibility alleles are missense substitutions?
|
24894818 |
2014 |
|
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
TGF-β1-ROS-ATM-CREB signaling axis in macrophage mediated migration of human breast cancer MCF7 cells.
|
24705025 |
2014 |
|
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
ATM polymorphisms IVS24-9delT, IVS38-8T>C, and 5557G>A in Mexican women with familial and/or early-onset breast cancer.
|
25014427 |
2014 |