Mature B-Cell Neoplasm

This study performed exome sequencing on 55 DLBCL tumor samples and identified several significantly mutated genes including ACTB.

PMID 22343534 · Lohr et al., 2012 · Open in CIViC

This study sequenced 73 DLBCL tumors (34 with matched constitutional DNA) and reported 322 genes they deemed recurrently mutated. Only genes that have been confirmed by other similar studies were adde… (full text at CIViC)

PMID 23292937 · Zhang et al., 2013 · Open in CIViC

Reported as significantly mutated in BL per the cited study. An arbitrarily selected variant from the study is included here.

PMID 30617194 · Grande et al., 2019 · 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

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

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

The authors analyzed 304 primary DLBCLs using whole exome sequencing and targeted sequencing. This one one of the genes they identified as significantly enriched for somatic mutations.

PMID 29713087 · Chapuy et al., 2018 · Open in CIViC

Associated with venetoclax resistance in high-risk CLL post ibrutinib in "progressive CLL"

PMID 32232486 · Lucas et al., 2020 · Open in CIViC

This study is a follow-up report after the original publication (PMID 30514704). A113G mutation was identified in combination with other BCL2 mutations including G101V in 3 CLL patients with venetocla… (full text at CIViC)

PMID 31951646 · Blombery et al., 2020 · Open in CIViC

This study is a follow-up report after the original publication (PMID 30514704). D103E mutation was identified in combination with other BCL2 mutations including G101V in 4 CLL patients with venetocla… (full text at CIViC)

PMID 31951646 · Blombery et al., 2020 · Open in CIViC

The authors demonstrated that BCL2 Asp103Glu imparts resistance to venetoclax in vitro by investigating the in vitro binding profile of the Asp103Glu to both venetoclax and proapoptotic proteins in co… (full text at CIViC)

PMID 31951646 · Blombery et al., 2020 · Open in CIViC

This study is a follow-up report after the original publication (PMID 30514704). D103V mutation was identified in combination with other BCL2 mutations including G101V in 2 CLL patients with venetocla… (full text at CIViC)

PMID 31951646 · Blombery et al., 2020 · Open in CIViC

This study is a follow-up report after the original publication (PMID 30514704). D103Y mutation was identified in combination with other BCL2 mutations including G101V in 5 CLL patients with venetocla… (full text at CIViC)

PMID 31951646 · Blombery et al., 2020 · Open in CIViC

This study identified D103Y in one CLL patient with resistance to venetoclax. D103Y was presented in this patient after 39 months of venetoclax treatment in peripheral blood with a VAF of 7% which inc… (full text at CIViC)

PMID 31004028 · Tausch et al., 2019 · Open in CIViC

This study identified BCL2 F104I mutation in one Follicular Lymphoma patient who developed resistance to venetoclax. Codon 104 is located at the venetoclax binding site of BCL2.

PMID 31234236 · Blombery et al., 2019 · Open in CIViC

Rs4;11 cells overexpressing BCL2 F104I exhibited >40-fold greater resistance to venetoclax after 24-hour treatment (IC50 not reached) than Rs4;11 overexpressing BCL2 WT cells as determined by cell tit… (full text at CIViC)

PMID 31234236 · Blombery et al., 2019 · Open in CIViC

Associated with venetoclax resistance in 2 high-risk CLL patients post ibrutinib in "progressive CLL"

PMID 32232486 · Lucas et al., 2020 · Open in CIViC

Associated with venetoclax resistance in high-risk CLL post ibrutinib in "progressive CLL"

PMID 32232486 · Lucas et al., 2020 · Open in CIViC

Associated with venetoclax resistance in high-risk CLL post ibrutinib in "progressive CLL"

PMID 32232486 · Lucas et al., 2020 · Open in CIViC