Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
However, the impact of screening and preventative interventions and spectrum of cancer risk beyond breast cancer associated with ATM and/or CHEK2 variants remain less well characterized.
|
29445900 |
2018 |
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
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 |
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our findings indicate that ATM-associated BCs often harbor bi-allelic inactivation of ATM, are phenotypically distinct from BRCA1/2-associated BCs, lack HRD-related mutational signatures, and that TP53 and ATM genetic alterations are likely epistatic.
|
29506079 |
2018 |
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, we hypothesize a role of variants in the ATM, H2AFX and MRE11 genes in determining breast cancer (BC) susceptibility.
|
29678143 |
2018 |
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Breast cancer screening for ATM mutations carriers and referral to international experts in two undiagnosed patients were arranged.
|
29524103 |
2018 |
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
However, the synthetically lethal interaction between PTEN and ATM in breast cancer has not been reported.
|
29522753 |
2018 |
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
ART can inhibit cell proliferation and promote G2/M arrest in MCF7 cells through ATM activation and the ensuing "ATM-Chk2-Cdc25C" pathway, thus implicating ART as a novel candidate for breast cancer chemotherapy.
|
29797234 |
2018 |
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
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 |
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that common genetic polymorphisms in the XRCC2, PHB, CDH1 and ATM genes are associated with risk of breast cancer among Sri Lankan postmenopausal women.
|
29433565 |
2018 |
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic mutations or variants that increase BC risk have been reported in the following genes or genomic regions: ATM, BARD1, CHECK2, FGFR2, GSTM1, MAP3K1, MTHFR, PALB2, RAD51, TOX3, TP53, XRCC1, and 2q35.
|
28985766 |
2017 |
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
Finally, tumor array analyses, performed using public data, identify a significant correlation between ATM and ATG4C expression levels in all human breast cancer subtypes, except for the basal-like one.Overall, we uncover a new connection between ATM kinase and autophagy regulation in breast cancer.
|
28423511 |
2017 |
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
PVs were identified in 9.3% of women tested; 51.5% of PVs were identified in genes other than breast cancer 1 (BRCA1) and BRCA2, including checkpoint kinase 2 (CHEK2) (11.7%), ataxia telangiectasia mutated (ATM; ATM serine/threonine kinase) (9.7%), and partner and localizer of BRCA2 (PALB2) (9.3%).
|
28085182 |
2017 |
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Women were tested with a 25-gene hereditary cancer panel including BRCA1/2 and 7 additional genes known to be associated with a >20% lifetime risk for breast cancer (ATM, CHEK2, PALB2, TP53, PTEN, CDH1, and STK11).
|
28011157 |
2017 |
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
This result argues strongly in favor of the involvement of ATM in these tumors as a tumor suppressor gene and confirms that germline ATM mutations are involved in a subset of familial BC.
|
28691344 |
2017 |
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Loss of heterozygosity studies suggest a causative role of the BARD1 mutation in the development of primary peritoneal cancer, but fail to confirm an association between germline ATM mutations and breast cancer development in this family.
|
28139868 |
2017 |
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
Further studies that characterize germline and somatic ATM mutations in breast cancer and relate the detected genetic changes to functional outcomes, particularly with regard to radiation responses, are needed to gain a complete picture of the complex relationship between ATM, radiation and breast cancer.
|
28627265 |
2017 |
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
ATM participates in the signaling of telomere erosion, and inherited mutations in ATM have been associated with increased risk of cancer, particularly breast cancer.
|
28981872 |
2017 |
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
The frequencies of non-synonymous single nucleotide variants (SNVs) in the TP53 family members TP63 and TP73 were relatively low, although genes with increased frequencies of SNVs were as follows: PTEN (11.7%) in breast cancer, CDKN2A (11.1 and 9.6%) in pancreas and head and neck cancers, and ATM (18.0 and 11.1%) in liver and esophageal cancers.
|
28258440 |
2017 |
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
In this review, we discuss how other DDR proteins (such as the kinases Ataxia Telangiectasia Mutated (ATM) and ATM- and Rad3-Related (ATR), mediators BRCA1 (Breast Cancer 1)/BRCA2 and effectors RAD51/DNA Polymerase η (Polη) interact with PALB2 to orchestrate DNA repair.
|
28858227 |
2017 |
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
Promoter Hypermethylation of the ATM Gene as a Novel Biomarker for Breast Cancer
|
29172272 |
2017 |
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
ATM mutation prevalence in Spanish population highlights the importance of considering ATM pathogenic variants linked to breast cancer susceptibility.
|
27913932 |
2017 |
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
The aims of this review are to discuss specific DNA damage response defects in breast cancer and to present the current stage of development of various DDR inhibitors (namely PARP, ATM/ATR, DNA-PK, PARG, RECQL5, FEN1 and APE1) for breast cancer mono- and combination therapy.
|
28034453 |
2017 |
Malignant neoplasm of breast
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Eleven mutations were found in other breast cancer susceptibility genes including CHEK2 (n = 5), PALB2 (n = 2), BLM (n = 2), ATM (n = 1) and TP53 (n = 1).
|
27798748 |
2017 |
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
This study establishes TRIM29 as a hypoxia-induced tumor suppressor gene and provides a novel molecular mechanism for ATM-dependent breast cancer suppression.
|
27535224 |
2016 |
Malignant neoplasm of breast
|
0.700 |
Biomarker
|
disease |
BEFREE |
Although the involvement of reactive oxygen species (ROS) production and the ataxia-telangiectasia mutated protein (ATM)-dependent DNA damage signaling pathway in 4[Formula: see text]-hydroxywithanolide E-induced apoptosis of breast cancer MCF-7 cells was demonstrated in our previous study, the relationship between ROS production and the cellular defense system response in 4[Formula: see text]-hydroxywithanolide E-induced cell death requires further verification.
|
27109152 |
2016 |