Neoplasm by Morphology

A patient with Clear cell renal cell carcinoma previously treated with sorafenib, axitinib, and everolimus was found to harbor a BAP1 frameshift mutation described as c.799_800del (p.Q267fs). Based o… (full text at CIViC)

PMID 35875073 · Lian et al., 2022 · Open in CIViC

A patient with lung adenocarcinoma harboring a somatic homozygous BARD1 G320* stop-gain alteration and an RBBP8 exon 3–4 duplication was classified as homologous recombination deficient by HRDetect an… (full text at CIViC)

PMID 36964191 · Tsang et al., 2023 · Open in CIViC

MPM cells transfected with BAP1Δ, an alternative splice isoform of BAP1 that misses part of the catalytic domain, showed reduced deubiquitinating activity compared with full-length BAP1. MPM cell line… (full text at CIViC)

PMID 28389374 · Parrotta et al., 2017 · Open in CIViC

This randomized, open-label, phase 3 trial evaluated the PARP inhibitor olaparib in 387 men with metastatic castration-resistant prostate cancer (mCRPC) who had disease progression while receiving a n… (full text at CIViC)

PMID 32343890 · de Bono 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

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

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

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

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

Primary imatinib resistance is caused by a deletion polymorphism in intron 2 (see EID 1280 and 1281). An in vitro study shows that the deletion biases BIM splicing from exon 4 to exon 3. Adding ASOs t… (full text at CIViC)

PMID 29100409 · Liu et al., 2017 · Open in CIViC

The BIM (BCL2L11) deletion polymorphism was identified in an EGFR Mutant NSCLC cell line with resistance to EGFR-TKI (HCC2779). Introduction of this polymorphism in a previously EGFR-inhibitor sensiti… (full text at CIViC)

PMID 22426421 · Ng et al., 2012 · Open in CIViC

DNA sequencing was performed in five Ph+ CML samples with sensitivity or resistance to imatinib. A structural variation in BIM2 (BCL2L11) with an identical 2,903-bp genomic deletion was identified in … (full text at CIViC)

PMID 22426421 · Ng et al., 2012 · 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

Multivariate analysis on 354 MDS patients including age, International Prognostic Scoring System, transfusion dependency, and mutational status confirmed a significant inferior OS to patients with a B… (full text at CIViC)

PMID 24047651 · Damm et al., 2013 · Open in CIViC

In this 2010 review, the authors highlighted the central diagnostic and pathogenic role of the BCR::ABL1 fusion gene in Chronic Myeloid Leukemia (CML), emphasizing that its presence is the characteriz… (full text at CIViC)

PMID 20537386 · An et al., 2010 · Open in CIViC

In this 2007 study, the authors identified 38 cases of t(9;22)(q34;q11), also known as Philadelphia positive (Ph+), acute leukemia of myeloid origin. However, 18 cases were excluded as they displayed … (full text at CIViC)

PMID 17369142 · Soupir et al., 2007 · Open in CIViC