Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
However, both cell systems have suboptimal features, with HaCaT cells exhibiting a large number of chromosomal aberrations and mutated p53 tumor suppressor, whereas primary keratinocytes are short-lived, heterogeneous and not susceptible to genetic modifications due to their restricted life-span.
|
31247885 |
2019 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
TP53 mutated patients had even fewer co-mutated genes but were enriched for the del(5q) chromosomal abnormality (p < 0.005), monosomal karyotype (p < 0.001), and high complexity, defined as more than 4 cytogenetic abnormalities (p < 0.001).
|
30635634 |
2019 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutation frequencies of SF3B1 (9·7%), NOTCH1 (8·6%), BIRC3 (1·1%), ATM (16·9%) or TP53 (8·1%), and frequencies of cytogenetic abnormalities including trisomy 12 (18·6%), del(17p) (10·4%), del(13q) (43·7%) and IGH translocation (10·1%) were comparable to those reported from Western countries, except del(11q) (6·9%) which was lower in our patients.
|
31230372 |
2019 |
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
In contrast, tolerance to structural chromosome aberrations was almost entirely restricted to TP53-knockout clones, all of which were able to continue proliferation in the presence of damaged DNA.
|
31444400 |
2019 |
Congenital chromosomal disease
|
0.100 |
AlteredExpression
|
group |
BEFREE |
We investigated 32 PCNS-DLBCL from immunocompetent patients for BCL2, CMYC, LMO2, and P53 expression and for cytogenetic aberrations of BCL2, BCL6, and MYC genes, all known for their prognostic value in systemic DLBCL (s-DLBCL).
|
27966264 |
2017 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The aim of our study was to evaluate the frequency of CN-LOH at 17p in bone-marrow cells of newly diagnosed MDS patients with complex chromosomal aberrations and to assess its correlation with mutations in the TP53 gene (17p13.1).
|
26851439 |
2016 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The results suggest a correlation of large del(5q) with TP53 mutations and with additional chromosomal aberrations possibly contributing to more severe courses of these cases.
|
27218649 |
2016 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Patients with AML and MDS who had cytogenetic abnormalities associated with unfavorable risk, TP53 mutations, or both had favorable clinical responses and robust (but incomplete) mutation clearance after receiving serial 10-day courses of decitabine.
|
27959731 |
2016 |
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
By combining data on recurrent gene mutations (BIRC3, MYD88, NOTCH1, SF3B1 and TP53) and cytogenetic aberrations, we reveal a subset-biased acquisition of gene mutations.
|
27198719 |
2016 |
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
A cohort comprising 156 patients with B-cell neoplasms harboring an MYC rearrangement was analyzed with respect to phenotypic presentation, molecular markers (TP53, MYC and ID3) and additional cytogenetic abnormalities (concomitantly occurring BCL2, BCL6 and/or CCND1 rearrangements; double, triple or quadruple hit lymphomas = multiple hit lymphomas).
|
27810071 |
2016 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
There is no distinct chromosomal abnormality but del17p13 and mutations of the TP53 gene are frequent.
|
26614904 |
2015 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The early acquisition of TP53 mutations in the founding HSPC clone probably contributes to the frequent cytogenetic abnormalities and poor responses to chemotherapy that are typical of patients with t-AML/t-MDS.
|
25487151 |
2015 |
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Peripheral blood was analyzed for chromosomal aberrations (CAs) and micronuclei (MN) formation. p53 and XRCC1 genotypes were detected using a PCR-RFLP technique.
|
23053887 |
2013 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
These results show that SCCOHT differs from high-grade serous carcinomas by exhibiting few chromosomal anomalies and lacking TP53 mutations.
|
23433318 |
2013 |
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Higher Pm expression level was found in favorable cytogenetic aberrations (p = 0.016) and the group without p53 aberration (p = 0.005).
|
23013295 |
2013 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Comparative genomic hybridization analysis demonstrated that no chromosomal abnormality was found in the GCA; however, a gain of chromosomes 7 and 19 and a loss of chromosomes 10 and 9p21 (CDKN2A) were found in the glioblastoma. p53 was strongly expressed in both the GCA and glioblastoma.
|
22994265 |
2013 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This report describes the clinical and pathological characteristics of four CLL patients showing a new recurrent chromosomal abnormality dic(8;17)(p11;p11), that implied loss of the TP53 gene in all cases.
|
22150335 |
2012 |
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
However, a positive correlation was observed between the status of several tumor suppressor genes (TP53, RB1, CDNK2A and TP73) and the number of chromosome aberrations (r = 0.6625, P = 0.0003).
|
22962577 |
2012 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The strong correlations of lower CR rate with advanced Binet stage, unmutated IGHV, cytogenetic abnormalities of del(17p13) or del(11q23), and p53 mutations were observed by univariable analyses.
|
21881978 |
2012 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In addition, a higher frequency of cytogenetic aberrations was observed in p53 variants having the homozygous proline genotype compared to variants having other genotypes both in patients and healthy individuals.
|
22892830 |
2012 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
High-grade ovarian serous carcinomas (HGSC) are characterized by TP53 mutations and non-random patterns of chromosomal anomalies, where the nature of the TP53 mutation may correlate with clinical outcome.
|
23029043 |
2012 |
Congenital chromosomal disease
|
0.100 |
AlteredExpression
|
group |
BEFREE |
On the other hand, CDDP significantly increased the levels of urea and creatinine and decreased the levels of albumin and total protein.The treatment of CCE before or after treatment with CDDP showed, (i) a total reduction of CDDP induced oxidative damage for all tested markers, (ii) an anti-genotoxic effect resulting in an efficient prevention of chromosomal aberrations compared to the group treated with CDDP alone (iii) restriction of the effect of CDDP by differential modulation of the expression of p53 which is decreased as well as its associated genes such as bax and bcl2, (iiii) restriction of serums levels of creatinine, urea, albumin and total protein resuming its values towards near normal levels of control.
|
22849573 |
2012 |
Congenital chromosomal disease
|
0.100 |
Biomarker
|
group |
BEFREE |
A range of concentrations of NO induced opposing effects on radiosensitivity and chromosome aberrations in human non-small cell lung cancer cells bearing wtp53 gene status, and these different effects produced by NO depended on the cell cycle phase.
|
21757848 |
2011 |
Congenital chromosomal disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Breast carcinoma-associated fibroblasts rarely contain p53 mutations or chromosomal aberrations.
|
20570891 |
2010 |
Congenital chromosomal disease
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Actually, polymorphic variants Arg and Pro were found to have different properties of regulation of TP53-dependent DNA repair target genes, that can effect various levels of chromosome aberrations in cancer patients with these genotypes.
|
20512840 |
2010 |