Mature B-Cell Neoplasm

This study identified G101V mutation in BCL2 emerged in 7 out of 15 patients with CLL progression treated with Venetoclax. In addition, this study demonstrated that the G101V mutation impairs binding … (full text at CIViC)

PMID 30514704 · Blombery et al., 2019 · Open in CIViC

Four of six heavily pretreated, high-risk CLL patients with a 17p deletion from the phase 2 trial M13-9824 with continuous venetoclax treatment, who were treated with venetoclax for a period longer th… (full text at CIViC)

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

This study is a follow-up report after the original publication (PMID 30514704). The authors described multiple acquired resistance mutations including G101V in BCL-2 that occur in different CLL cells… (full text at CIViC)

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

Previous work by this group used WES and was unable to identify BCL2 G101V mutation in 9 CLL patients with resistance to venetoclax (PMID 29463802). Based on Tausch et al work (PMID 31004028), this gr… (full text at CIViC)

PMID 31666345 · Weiss et al., 2019 · Open in CIViC

The effective cohort in this study was 11 CLL patients who were first treated with ibrutinib and then on progression treated with venetoclax until progression. Patient samples were sequenced before an… (full text at CIViC)

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

This study demonstrated that the G101V mutation impairs binding of venetoclax to BCL2, confers resistance to venetoclax in both patient leukemia cells and engineered cell lines, thus provides a select… (full text at CIViC)

PMID 30514704 · Blombery et al., 2019 · Open in CIViC

This study described the similar crystal structures of BCL-2 wild-type and G101V when bound to venetoclax. Steady state competition surface plasmon resonance experiments demonstrated a ~177 fold decre… (full text at CIViC)

PMID 31160589 · Birkinshaw et al., 2019 · 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

In a multivariate analysis, BCL2 mutations and high FL international prognostic index were independent risk factors for transformation and death due to lymphoma. Some mutant Bcl-2 proteins exhibited e… (full text at CIViC)

PMID 25452615 · Correia et al., 2015 · Open in CIViC

In patients with Diffuse Large B-Cell Lymphoma, those with increased levels of BCL2 were shown to have decreased overall, disease-free, and relapse-free survival.

PMID 9207459 · Gascoyne et al., 1997 · Open in CIViC

In patients with Diffuse Large B-Cell Lymphoma, those with increased levels of BCL2 were shown to have decreased OS, DFS, and RFS.

PMID 9207459 · Gascoyne et al., 1997 · Open in CIViC

This study is a follow-up report after the original publication (PMID 30514704). R107_R110dup mutation was identified in combination with other BCL2 mutations including G101V in 5 CLL patients with ve… (full text at CIViC)

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

Associated with venetoclax resistance in high-risk CLL patients post ibrutinib in 2 cases of "progressive CLL" and 1 case of Richter transformation

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

This study is a follow-up report after the original publication (PMID 30514704). R129L 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 translocation is a hallmark feature of follicular lymphoma. Although it is not present in every case, it is one of the most common genetic features of FL. FISH or IHC staining for BCL2 is part of… (full text at CIViC)

PMID 3537802 · Yunis et al., 1987 · Open in CIViC

The t(14;18) transloaction of BCL2 is shown to be associated with germinal-center B-cell–like diffuse large-B-cell lymphomas.

PMID 12075054 · Rosenwald et al., 2002 · Open in CIViC

The combination of these genetic features are diagnostic for this newly defined entity as per the latest ICC and WHO guidelines

PMID 35653592 · Campo et al., 2022 · Open in CIViC

This study is a follow-up report after the original publication (PMID 30514704). V156D mutation was identified in combination with other BCL2 mutations including G101V in 6 CLL patients with venetocla… (full text at CIViC)

PMID 31951646 · Blombery 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

This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Only genes that have been confirmed by other similar studies were added to … (full text at CIViC)

PMID 28985567 · Reddy et al., 2017 · Open in CIViC

Mutations in this gene have been described in several studies including the one referenced here.

PMID 30617194 · Grande et al., 2019 · Open in CIViC

BIRC3 mutations have been described in MCL in multiple studies

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

BIRC3 mutations were identified in 23 of 919 screened CLLs. They are strongly linked to non-mutated IGHV genes (18/23, P = 0.0001), a widely recognized prognostic signature for poor outcome.

PMID 24943832 · Baliakas et al., 2015 · Open in CIViC

This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Some concerns about the validity of the results have been expressed in subs… (full text at CIViC)

PMID 28985567 · Reddy et al., 2017 · Open in CIViC

Observed mutated in BL in more than one genomic data set

PMID 31558468 · Panea et al., 2019 · Open in CIViC

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

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

In 47 patients with Hairy Cell Leukemia, sequencing discovered a V600E mutation in all 47 of the sequenced patients.

PMID 21663470 · Tiacci et al., 2011 · Open in CIViC

In patients with multiple myeloma, those with BRAF V600E had shorter overall survival than wild-type.

PMID 23612012 · Andrulis et al., 2013 · Open in CIViC

In these two phase II studies (Italy and U.S. locations), BRAF V600E-mutant hairy-cell leukemia was treated with vemurafenib at a dose of 960 mg twice daily to investigate its efficacy. The overall re…

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

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 effective cohort in this study was 11 CLL patients who were first treated with ibrutinib and then on progression treated with venetoclax until progression. Patient samples were sequenced before an… (full text at CIViC)

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

Whole exome sequencing of 6 chronic lymphocytic leukemia patients with acquired resistance to ibrutinib determined 5/6 patients harbored a C481S mutation in BTK.

PMID 24869598 · Woyach et al., 2014 · Open in CIViC

In a trial of 308 patients with chronic lymphocytic leukemia treated with ibrutinib, 31 discontinued treatment due to disease progression (13 CLL progression, 18 Richter’s transformation). 11/13 patie… (full text at CIViC)

PMID 26182309 · Maddocks et al., 2015 · Open in CIViC

The effective cohort in this study was 11 CLL patients who were first treated with ibrutinib and then on progression treated with venetoclax until progression. Patient samples were sequenced before an… (full text at CIViC)

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

A patient cohort of 308 individuals was created from trials of Ibrutinib in CLL (see Maddocks 2015, PMID: 26182309). A secondary cohort was created from a prospective collection of 112 patients. 83/… (full text at CIViC)

PMID 28418267 · Woyach et al., 2017 · Open in CIViC

This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Only genes that have been confirmed by other similar studies were added to … (full text at CIViC)

PMID 28985567 · Reddy et al., 2017 · Open in CIViC

Case report of a patient with CLL and Richter-transformed relapse under ibrutinib (after an initial partial response for 10 months). Sequencing of sequential samples of this patient revealed a novel B… (full text at CIViC)

PMID 27626698 · Sharma et al., 2016 · Open in CIViC

The signalling adaptor CARD11 is required for constitutive NF-kappaB pathway activity and survival in ABC DLBCL. Roughly 10% of ABC DLBCLs have mutant CARD11 isoforms that activate NF-kappaB, but the … (full text at CIViC)

PMID 20054396 · Davis et al., 2010 · 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