Hematopoietic and Lymphatic System Neoplasm

In patients with de novo AML who received intensive chemotherapy, ASXL1 mutations (N=51) were associated with shorter overall (P<0.001) and event free survival (P=0.012) compared to ASXL1 wild-type (N… (full text at CIViC)

PMID 23018865 · Schnittger et al., 2013 · Open in CIViC

Patients with Acute Myeloid Leukemia showed an synergistic mortality rate with ASXL1 and SRSF2 co-mutations such that individual mutations of either ASXL1 or SRSF2 resulted in ~20% probability of surv… (full text at CIViC)

PMID 27276561 · Papaemmanuil et al., 2016 · Open in CIViC

In a meta-analysis of six studies totalling 3311 patients with non-M3 acute myeloid leukemia, those with mutations in ASXL1 had worse overall survival than wild-type patients (Hazard ratio 1.86, 95% C… (full text at CIViC)

PMID 25308295 · Shivarov et al., 2015 · Open in CIViC

In the study involving 1725 B-ALL patients, 264 were identified by microarray-based algorithm to have a Ph-like expression signature. Next generation sequencing (RNAseq, WGS, and/or WES) performed on … (full text at CIViC)

PMID 25207766 · Roberts et al., 2014 · Open in CIViC

In B-lymphoblastic leukemia/lymphoma (B-ALL), the presence of this fusion is associated with so-called BCR/ABL1 like (Ph-like) subtype of the disease. The ATF7IP-JAK2 fusion is rare; in this study inv… (full text at CIViC)

PMID 27870571 · Roberts et al., 2017 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the A2062V variant on ATM expression was tested by weste… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

In an in vitro study using primary chronic lymphocytic leukemia (CLL) cells from patients with mutated (n=8) and wildtype (n=5) ATM, inhibition of cell growth was used as an assay to determine sensiti… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the C2488Y variant on ATM expression was tested by weste… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the c.7089+1del variant on ATM expression was tested by … (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the c.7515+1_2del variant on ATM expression was tested b… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the c.902-1G>T variant on ATM expression was tested by w… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the D1682H variant on ATM expression was tested by weste… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the D1930V variant on ATM expression was tested by weste… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

In mice, the authors expressed two ATM missense variants (D2880A and N2885K) and a hematopoietic stem cell specific Cre recombinase that inactivates the conditional ATM allele (which behaves similarly… (full text at CIViC)

PMID 27304073 · Yamamoto et al., 2016 · Open in CIViC

In mice, the authors expressed two ATM missense variants (D2880A and N2885K) and a hematopoietic stem cell specific Cre recombinase that inactivates the conditional ATM allele (which behaves similarly… (full text at CIViC)

PMID 27304073 · Yamamoto et al., 2016 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the E2187* variant on ATM expression was tested by weste… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the F1025L variant on ATM expression was tested by weste… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the F2732V variant on ATM expression was tested by weste… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the K293* variant on ATM expression was tested by wester… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the K468FS variant on ATM expression was tested by weste… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the L2427P variant on ATM expression was tested by weste… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

In a study of 406 previously untreated CLL cases, a multivariate analysis indicated that aberrations (N=44; mixed pathogenic germline and somatic) in exons 2-63 of ATM were significantly associated wi… (full text at CIViC)

PMID 26837699 · Nadeu et al., 2016 · Open in CIViC

ATM point mutations were found in 8/57 patients with CLL and were associated with a shorter treatment-free interval, suggesting a more aggressive course.

PMID 21993670 · Guarini et al., 2012 · Open in CIViC

Mantle cell lymphoma is characterized by inactivation of the ATM gene

PMID 10706620 · Schaffner et al., 2000 · Open in CIViC

In an in vitro study using primary chronic lymphocytic leukemia (CLL) cells from patients with mutated (n=8) and wildtype (n=5) ATM, inhibition of cell growth was used as an assay to determine sensiti… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

In an in vitro study using primary chronic lymphocytic leukemia (CLL) cells from patients with mutated (n=8) and wildtype (n=5) ATM, inhibition of cell growth was used as an assay to determine sensiti… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

In an in vitro study using primary chronic lymphocytic leukemia (CLL) cells from patients with mutated (n=8) and wildtype (n=5) ATM, inhibition of cell growth was used as an assay to determine sensiti… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

In an in vitro study using primary chronic lymphocytic leukemia (CLL) cells from patients with mutated (n=8) and wildtype (n=5) ATM, inhibition of cell growth was used as an assay to determine sensiti… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

In an in vitro study using primary chronic lymphocytic leukemia (CLL) cells from patients with mutated (n=8) and wildtype (n=5) ATM, inhibition of cell growth was used as an assay to determine sensiti… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the R3008C variant on ATM expression was tested by weste… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

In an in vitro study using primary chronic lymphocytic leukemia (CLL) cells from patients with mutated (n=8) and wildtype (n=5) ATM, inhibition of cell growth was used as an assay to determine sensiti… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. Cells were treated with doxorubicin to induce double-strand (DSB) and … (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

43 B-CLL patients with LoH or reduced protein levels (<50% normal expression, radioimmunoassay, western blot) of ATM were found to have significantly shorter overall survival (35.6 vs. 97.3 months; P=… (full text at CIViC)

PMID 9788599 · Starostik et al., 1998 · Open in CIViC

In an in vitro study using primary chronic lymphocytic leukemia (CLL) cells from patients with mutated (n=8) and wildtype (n=5) ATM, inhibition of cell growth was used as an assay to determine sensiti… (full text at CIViC)

PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC

The germline variant rs143348853 (5bp deletion), creates MEF2 transcription factor binding site, which induces activity in the locus around AXIN2 gene and associates with elevated AXIN2 expression. In… (full text at CIViC)

PMID 35440565 · Llimos et al., 2022 · Open in CIViC

This study used a combination of RNA-seq, whole genome and targeted sequencing to identify recurrently mutated genes in follicular and diffuse large B-cell lymphoma. They reported 30 genes that had si… (full text at CIViC)

PMID 21796119 · Morin et al., 2011 · Open in CIViC

Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL.

PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC

BAX mutation was found in AML samples that were refractory to venetoclax. In in vitro experiments, BH-3 mimetics enriches for BAX mutation. Deficiency of BAX impairs efficacy of BH-3 mimetics targetin… (full text at CIViC)

PMID 36219880 · Moujalled et al., 2023 · Open in CIViC

This study used a combination of RNA-seq, whole genome and targeted sequencing to identify recurrently mutated genes in follicular and diffuse large B-cell lymphoma. They reported 30 genes that had si… (full text at CIViC)

PMID 21796119 · Morin et al., 2011 · Open in CIViC