B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
Biomarker
|
disease |
BEFREE |
A robust response to ODN+IL-15 was positively linked to presence of chromosomal anomalies (trisomy-12 or ataxia telangiectasia mutated anomaly + del13q14) and negatively linked to a very high proportion of CD38(+) cells within the blood-derived B-CLL population.
|
26136429 |
2015 |
B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
Biomarker
|
disease |
BEFREE |
The B-CLL fluorescence in situ hybridization (FISH) panel comprised ATM, CEP12, D13S25, and TP53 probes.
|
25301672 |
2014 |
B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
Biomarker
|
disease |
BEFREE |
In this study, we analyzed 149 bone marrow aspirate or peripheral blood specimens from patients diagnosed with B-CLL, evaluated by four different laboratory studies: morphology examination, three- or four-color flow cytometry analysis, conventional cytogenetics, and fluorescence in situ hybridization (FISH) with a dual-color, break-apart IGH@ probe in addition to a B-CLL FISH probe panel for del(11)(q22) ATM, del(13)(q14.3), del(17)(p13) TP53, and +12.
|
19963136 |
2010 |
B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
Biomarker
|
disease |
BEFREE |
The functional evaluation of ataxia telangiectasia mutated (ATM) and p53 was recently developed in B-cell chronic lymphocytic leukaemia (B-CLL), a disease in which the response to DNA damage is frequently altered.
|
19764992 |
2009 |
B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Translocations as a mechanism for homozygous deletion of 13q14 and loss of the ATM gene in a patient with B-cell chronic lymphocytic leukemia.
|
17350468 |
2007 |
B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Since only in a subset of these cases biallelic inactivation of ATM was observed, we sought to identify other disease-associated genes within 11q22-q23 by analysing NPAT (cell-cycle regulation), CUL5 (ubiquitin-dependent apoptosis regulation) and PPP2R1B (component of the cell-cycle and apoptosis regulating PP2A) for point mutations and their expression in B-CLL by single-strand conformation polymorphism/sequence analysis of the transcripts and real-time polymerase chain reaction.
|
17449237 |
2007 |
B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
Biomarker
|
disease |
BEFREE |
These results indicate an association between BLA and reduced expression of ATM, suggesting a role for ATM in disease progression in B-CLL.
|
17213020 |
2007 |
B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Although the tumor-suppressor gene ATM in the consensus deletion region was found to be biallelically inactivated in about one third of B-CLL cases, in the majority of those who have this deletion, inactivation of the remaining ATM allele was not observed.
|
15543602 |
2005 |
B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
B-cell chronic lymphocytic leukemia (B-CLL) is a clinically variable disease where mutations in DNA damage response genes ATM or TP53 affect the response to standard therapeutic agents.
|
15692065 |
2005 |
B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Cryptic deletion involving the ATM locus at 11q22.3 approximately q23.1 in B-cell chronic lymphocytic leukemia and related disorders.
|
15193446 |
2004 |
B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Deletions in ATM gene region have been found in B-cell chronic lymphocytic leukemia (B-CLL) and mantle cell lymphoma (MCL) and have been considered as an independent prognosis factor in these pathologies.
|
14607769 |
2003 |
B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here the role of ATM mutations in the pathogenesis of B-CLL is addressed.
|
11756185 |
2002 |
B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
While ATM mutations in mature B cell tumours (B-CLL and MCL) represent a mixture of missense and truncating errors distributed across the whole of the ATM coding sequence, mutations in sporadic T-PLL appear to be predominantly missense, clustering in the region encoding the PI-3 kinase catalytic domain of the protein.
|
12400598 |
2002 |
B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Frequent inactivating mutations of the ATM gene have been reported in patients with rare sporadic T cell prolymphocytic leukaemia (T-PLL), B cell chronic lymphocytic leukaemia (B-CLL), and most recently, mantle cell lymphoma (MCL).
|
11429421 |
2001 |
B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
p53 dysfunction in B-cell chronic lymphocytic leukemia: inactivation of ATM as an alternative to TP53 mutation.
|
11468183 |
2001 |
B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The putative tumor suppressor genes have remained unrevealed until recently, when the ATM gene was found to carry mutations in cases with deletion in B-CLL, MCL and T-PLL.
|
11426547 |
2001 |
B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
ATM mutations are also involved in the development of sporadic human cancers such as T-cell prolymphocytic leukemia and B-cell chronic lymphocytic leukemia.
|
10738255 |
2000 |
B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
Biomarker
|
disease |
BEFREE |
We show that the ATM gene is mutated in a fraction of B-CLLs and that mutations can be present in the germ line of patients, suggesting that ATM heterozygotes may be predisposed to B-CLL.
|
9892178 |
1999 |
B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
Biomarker
|
disease |
BEFREE |
Linkage analysis for ATM in familial B cell chronic lymphocytic leukaemia.
|
10516748 |
1999 |
B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We have looked for mutations in the ATM gene in sporadic cases of B-cell chronic lymphocytic leukaemia (B-CLL).
|
10023947 |
1999 |
B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To investigate a potential pathogenic role of ATM in B-cell tumorigenesis, we performed mutation analysis of ATM in 29 malignant lymphomas of B-cell origin (B-CLL = 27; mantle cell lymphoma, [MCL] = 2).
|
10397742 |
1999 |
B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
SomaticCausalMutation
|
disease |
ORPHANET |
In five B-CLLs and one MCL with deletion of one ATM allele, a point mutation in the remaining allele was detected, which resulted in aberrant transcript splicing, alteration, or truncation of the protein.
|
10397742 |
1999 |
B-CELL MALIGNANCY, LOW-GRADE
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
An additional 111 cases of B-CLL were studied for expression of ATM protein by Western blot analysis and RIA.
|
9788599 |
1998 |