|
Breast Carcinoma
|
0.500 |
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 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The ataxia telangiectasia mutated (ATM) gene is a moderate-risk breast cancer susceptibility gene; germline loss-of-function variants are found in up to 3% of hereditary breast and ovarian cancer (HBOC) families who undergo genetic testing.
|
29665859 |
2018 |
|
Breast Carcinoma
|
0.500 |
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 |
|
Breast Carcinoma
|
0.500 |
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 |
|
Breast Carcinoma
|
0.500 |
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 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Five- hit hypothesis in ATM gene: An individualized model in a breast cancer patient.
|
29293464 |
2018 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Invasive breast carcinomas with ATM gene variants of uncertain significance share distinct histopathologic features.
|
28986972 |
2018 |
|
Breast Carcinoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Loss of ATM expression or inhibiting oxidized ATM kinase activity reduced breast cancer cell migration and invasion.
|
30562756 |
2018 |
|
Breast Carcinoma
|
0.500 |
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 |
|
Breast Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
ATM mutation prevalence in Spanish population highlights the importance of considering ATM pathogenic variants linked to breast cancer susceptibility.
|
27913932 |
2017 |
|
Breast Carcinoma
|
0.500 |
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 |
|
Breast Carcinoma
|
0.500 |
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 |
|
Breast Carcinoma
|
0.500 |
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 |
|
Breast Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Promoter Hypermethylation of the ATM Gene as a Novel Biomarker for Breast Cancer
|
29172272 |
2017 |
|
Breast Carcinoma
|
0.500 |
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 |
|
Breast Carcinoma
|
0.500 |
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 |
|
Breast Carcinoma
|
0.500 |
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 |
|
Breast Carcinoma
|
0.500 |
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 |
|
Breast Carcinoma
|
0.500 |
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 |
|
Breast Carcinoma
|
0.500 |
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 |
|
Breast Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: A proof of principle study.
|
28691344 |
2017 |
|
Breast Carcinoma
|
0.500 |
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 |
|
Breast Carcinoma
|
0.500 |
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 |
|
Breast Carcinoma
|
0.500 |
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 |
|
Breast Carcinoma
|
0.500 |
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 |