ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 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
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 Biomarker disease BEFREE The identification of a minimally deleted segment affecting ATM suggests a pathogenic role of ATM as a tumor suppressor gene in MCL. 10556216 1999
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 Biomarker disease BEFREE The inactivation of both alleles of the ATM gene by deletion and deleterious point mutation in the majority of cases analyzed indicates that ATM plays a role in the initiation and/or progression of MCL. 10706620 2000
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 Biomarker disease BEFREE This allowed the identification of a deletion confined to the genomic region of ATM, which, together with intragenic mutations found in the coding sequence, suggests a role of ATM as a tumor suppressor gene in MCL. 10707794 2000
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 GeneticVariation disease BEFREE A hemizygous ATM deletion was seen in 44% to 88% of the interphase cells in 15 cases (11.1%); four patients had an indolent lymphoma (follicular center cell lymphoma), and 11 patients had an aggressive lymphoma (five mantle-cell lymphomas [MCLs] and six diffuse large-cell lymphomas). 10893293 2000
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 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
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 GeneticVariation disease BEFREE In this study, ATM gene alterations and protein expression were examined in 20 and 17 MCL tumor specimens, respectively. 11756177 2002
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 GeneticVariation disease BEFREE Mantle cell lymphoma (MCL) is also of pregerminal center origin and ATM mutations are frequent in this malignancy. 11756185 2002
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 GeneticVariation disease BEFREE The band 11q23 harbors the ataxia telangiectasia mutated (ATM) gene recently proposed to be involved in the pathogenesis of MCL with high incidence of deletions in this locus. 11793447 2002
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 GeneticVariation disease BEFREE The lymphomogenesis of MCL could be explained by a series of genetic abnormalities which occur at different steps of the disease: (1) mutation and/or loss of the ATM gene in centrocytic cells of the follicle mantle of lymph nodes, leading to the loss of ATM function, particularly involved during the V(D)J recombination process; (2) a t(11;14)(q13;q32) translocation which induces a constitutive Bcl-1/PRAD1/CCND1 expression, responsible for cell cycle activation of centrocytic cells characteristic of typical MCL; and (3) secondary additional chromosomal aberrations, such as a p53 mutation, observed in blastic transformation of MCL. 12153164 2002
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 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
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 Biomarker disease BEFREE In B-chronic lymphocytic leukemia and mantle cell lymphoma we observed two categories: ATM-negative tumors, most likely reflecting the presence of ATM mutation, and tumors with abundant ATM expression. 12875964 2003
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 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
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 GeneticVariation disease BEFREE Germ-line mutations in the ataxia-telangiectasia mutated (ATM) and CHK2 genes have been detected in patients with mantle cell lymphoma (MCL), suggesting a potential role of these genes in genetic predisposition to these tumors. 15020270 2004
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 AlteredExpression disease BEFREE The cell cycle, the ATM, gene and the nuclear factor kappaB pathways are the main targets of the genetic abnormalities occurring in mantle cell lymphoma: new genomic and expression data have been recently published. 15548996 2004
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 Biomarker disease BEFREE We describe an ATM heterozygous patient, who developed a mantle cell lymphoma (MCL) after occupational exposure to ionising radiation and somatic mutation of the second ATM allele supporting the contention that heterozygous germline ATM alterations in combination with irradiation exposure predisposes to sporadic MCL. 16387360 2006
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 Biomarker disease BEFREE This information on molecular phenotypes may provide new areas of investigation for ATM function or may be exploited by designing specific therapies for MCL cases with p53 aberrations. 16461462 2006
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 GeneticVariation disease BEFREE A nonobese diabetic/severe combined immunodeficient (NOD/SCID) murine xenograft model of an ATM mutant MCL cell line demonstrated significantly reduced tumor load and an increased survival of animals after olaparib treatment in vivo. 20739657 2010
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 Biomarker disease BEFREE Inhibition of poly(ADP-ribose) polymerase (PARP) and ataxia telangiectasia mutated (ATM) on the chemosensitivity of mantle cell lymphoma to agents that induce DNA strand breaks. 22170260 2012
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 Biomarker disease BEFREE We previously reported that mantle cell lymphoma cells with deficiency in ataxia telangiectasia mutated (ATM) are sensitive to PARP-1 inhibitors in vitro and in vivo. 24841718 2014
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 AlteredExpression disease BEFREE We studied PARP1 expression in a series of clinical cases of MCL, with the secondary aim to ascertain the relationship between PARP1 expression and DNA repair gene expression (namely ATM and p53) by immunohistochemical methods. 25143154 2015
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 Biomarker disease BEFREE Using both in vitro and in vivo models, ATR inhibition enhanced efficacy in ATM loss-of-function mantle cell lymphoma (MCL) compared with ATM wild-type cancer cells. 25232030 2015
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 Biomarker disease BEFREE Together these findings define a synergistic function of ATM and CyclinD1 in pre-GC B-cell proliferation and lymphomagenesis and provide a prototypic animal model to study the pathogenesis of human MCL. 25676421 2015
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 GeneticVariation disease BEFREE The MEC-1 and GRANTA-519 cells can be especially recommended for in vivo study of p53-mutated chronic lymphocytic leukemia and ATM-mutated mantle cell lymphoma, respectively. 25827173 2015
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.100 GeneticVariation disease BEFREE Whether adjusted for MCL International Prognostic Index (MIPI) or not, deletions of RB1, CDKN2A, TP53, and CDKN1B were associated with shorter overall survival (OS), similarly in both treatment arms, whereas CNAs in MYC, ATM, CDK2, CDK4, and MDM2 had no prognostic value. 26022239 2015