Neoplasm of Uncertain Histogenesis

Mutations in the polyglutamine domain of ATXN7 were identified in a forward genetic screen of HRAS G12V mutant thyroid follicular cells using a transposon-based mutagenesis system. Thyroid cancer-deri… (full text at CIViC)

PMID 28584132 · Montero-Conde et al., 2017 · Open in CIViC

Antitumour effect of alisertib treatment in esophageal adenocarcinomas can be intensified in combination with cisplatin.

PMID 22302096 · Sehdev et al., 2012 · Open in CIViC

In patients with ovarian carcinomas, those with Aurora kinase A expression (as measured by immunohistochemistry) had increased progression-free and overall survival compared to those without expressio… (full text at CIViC)

PMID 19157502 · Mendiola et al., 2009 · Open in CIViC

A retrospective study examining the expression of AURKA in tumor samples of 78 esophageal squamous cell carcinoma patients found that positive expression of AURKA (>10% of cells by IHC) was correlated… (full text at CIViC)

PMID 25924824 · Tamotsu et al., 2015 · Open in CIViC

The efficacy of novel AURKA inhibitor alisertib (MLN8327) was tested alone or in combination with cisplatin in three esophageal adenocarcinoma cell lines (FLO-1, OE19 and OE33) that overexpress AURKA.… (full text at CIViC)

PMID 22302096 · Sehdev et al., 2012 · Open in CIViC

High levels of Aurora-A expression (retrospectively assessed by IHC in 102 NSCLC patients) predicted poorer overall survival and progression free survival in a population treated with surgery and cisp… (full text at CIViC)

PMID 25082261 · Xu et al., 2014 · Open in CIViC

Concurrent inhibition of both AURKB (and AURKA) and PI3K is synergistic in NOTCH1-wild type and NOTCH-1 mutant head and neck squamous cell carcinoma (HNSCC) cell lines. In NOTCH1-wt cell lines, the co… (full text at CIViC)

PMID 36169922 · Shah et al., 2022 · 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

Immunohistochemical analysis of tumors from 116 esophageal squamous cell carcinoma found that expression of AXL was associated with increased progression of the tumor (P < 0.0001), increased risk of d… (full text at CIViC)

PMID 27172793 · Hsieh et al., 2016 · Open in CIViC

In a cohort of melanoma patients treated with PD-1 antibodies, higher B2M levels were observed in those who achieved a complete response compared to those with partial response or progressive disease.… (full text at CIViC)

PMID 34115389 · Zhao et al., 2021 · Open in CIViC

Whole exome sequencing (WES) was performed on 49 longitudinal tumour samples from 17 patients with metastatic melanoma, of whom 10 responded to ICIs/CPB, where 5 had durable responses, while 5 eventua… (full text at CIViC)

PMID 29070816 · Sade-Feldman et al., 2017 · 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

Paired tumor samples were analyzed from four patients with metastatic melanoma and initial response with a subsequent relapse under pembrolizumab (PD-1 checkpoint inhibitor) therapy. Baseline biopsies… (full text at CIViC)

PMID 27433843 · Zaretsky et al., 2016 · Open in CIViC

438 patients with non-metastatic clear-cell renal carcinoma were were retrospectively analysed for B4GALT1 expression via IHC. High B4GALT1 expression was associated with poor overall survival (P<0.00… (full text at CIViC)

PMID 27092876 · Xie et al., 2016 · Open in CIViC

Phase II study (NCT02465060) from NCI-MATCH Trial (EAY131) Subprotocol W addressed the use of AZD4547 (an FGFR 1-3 inhibitor) in 48 tumor patients carrying FGFR 1-3 variants. Partial responses were ob… (full text at CIViC)

PMID 32463741 · Chae et al., 2020 · Open in CIViC

A novel alternative splice isoform of BAP1 (BAP1Δ) that misses part of the catalytic domain showed reduced deubiquitinating activity compared with full-length BAP1. 4 MPM cell lines expressing more th… (full text at CIViC)

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

In patients with uveal melanoma, those with BAP1 expression (determined by immunohistochemical staining) had better survival.

PMID 25147369 · van Essen et al., 2014 · Open in CIViC

The in vivo experiment demonstrated that Bap1 loss results in increased trimethylated histone H3 lysine 27 (H3K27me3), elevated Ezh2 expression, and enhanced repression of Polycomb Repressive Complex … (full text at CIViC)

PMID 26437366 · LaFave et al., 2015 · Open in CIViC

A siRNA screen identified BAP1 associated with HDAC1 and HDAC2 expression. HDAC2 or BAP1 depletion sensitized a mesothelioma cell line (MSTO-211H) to HDAC inhibitors vorinostat or mocetinostat. The pa… (full text at CIViC)

PMID 25970771 · Sacco et al., 2015 · Open in CIViC

In patients with clear cell renal cell carcinoma, in a multivariate analysis those with mutations in BAP1 had worse overall survival than wild-type.

PMID 23797736 · Sato et al., 2013 · Open in CIViC

In patients with clear cell renal cell carcinoma, in a multivariate analysis those with mutations in BAP1 had worse overall survival than wild-type.

PMID 23797736 · Sato et al., 2013 · Open in CIViC

In this study, 42 patients with malignant pleural or peritoneal mesothelioma were treated with single-agent LY3023414 (Samotolisib). Among the 42 patients, 11 had BAP1 mutations, while SETD2 and NF2 m… (full text at CIViC)

PMID 33660194 · Zauderer et al., 2021 · Open in CIViC

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

Loss of BARD1 function through the expression of a BARD1 splice variant, BARD1β, results in a more malignant phenotype with decreased RAD51 foci formation, reduced BRCA1 E3 ubiquitin ligase activity, … (full text at CIViC)

PMID 27197561 · Ozden et al., 2016 · 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