News - BAP1 mutation - LARVOL VERI

11d

Solitary subependymal giant cell astrocytoma lacking TSC1/2 mutations and TTF-1 expression: A potential diagnostic pitfall. (PubMed, Neuropathology)

This case highlights the potential diagnostic pitfall of SEGA lacking TTF-1 expression and emphasizes the importance of considering this entity in the differential diagnosis of intraventricular tumors, even in the absence of TS and characteristic molecular alterations. The existence of TTF-1 negative SEGAs reveals that these tumors might also derive from TTF-1 negative cells in the subpendymal region.

11 days ago

Journal

BAP1 (BRCA1 Associated Protein 1) • TSC2 (TSC complex subunit 2) • BCOR (BCL6 Corepressor) • TSC1 (TSC complex subunit 1) • TTF1 (Transcription Termination Factor 1) • NKX2-1 (NK2 Homeobox 1) • SOX2 • SYP (Synaptophysin) • GFAP (Glial Fibrillary Acidic Protein) • OLIG2 (Oligodendrocyte Transcription Factor 2)

BAP1 mutation • TSC1 mutation • TSC2 mutation • NKX2-1 expression • TTF1 negative

23d

Olaparib in Patients With HRD Malignant Mesothelioma (clinicaltrials.gov)

P2, N=56, Recruiting, University of Chicago | Trial completion date: Oct 2025 --> Apr 2025 | Trial primary completion date: Oct 2024 --> Apr 2025

23 days ago

Trial completion date • Trial primary completion date

BAP1 (BRCA1 Associated Protein 1)

BAP1 mutation

Lynparza (olaparib)

24d

Targeted Genetic Sequencing Analysis of 223 Cases of Pseudomyxoma Peritonei Treated by Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy Shows Survival Related to GNAS and KRAS Status. (PubMed, Cancer Med)

Survival outcome was more closely associated with the grade of the peritoneal disease than with the grade of the primary neoplasm. Our findings support the developing concept that mutational analysis may provide prognostic information in patients with PMP.

24 days ago

Journal • Surgery

KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • BAP1 (BRCA1 Associated Protein 1) • ERBB4 (erb-b2 receptor tyrosine kinase 4) • GNAS (GNAS Complex Locus)

TP53 mutation • BAP1 mutation • GNAS mutation

26d

Integrative multi-omics analysis reveals the role of tumor-associated endothelial cells and their signature in prognosis of intrahepatic cholangiocarcinoma. (PubMed, J Transl Med)

The TEC score is a promising and reliable biomarker for predicting genetic mutations and prognosis in ICC patients. Enhancing the regulation of the CXCL12/CXCR4 signaling pathway may represent a potential novel therapeutic target for ICC treatment.

26 days ago

Journal • IO biomarker

KRAS (KRAS proto-oncogene GTPase) • CD8 (cluster of differentiation 8) • BAP1 (BRCA1 Associated Protein 1) • CXCL12 (C-X-C Motif Chemokine Ligand 12) • CD4 (CD4 Molecule)

KRAS mutation • BAP1 mutation • CXCL12 expression • CXCL12 overexpression

28d

Identification of targetable epigenetic vulnerabilities in uveal melanoma. (PubMed, bioRxiv)

RNA sequencing revealed a notable overlap between the genes and pathways affected by HDAC and BET inhibition, including the reversal of gene signatures linked to high metastatic risk and upregulation of genes associated with a neuronal phenotype. Together, we found that UM cells are particularly vulnerable to class I HDAC and BET inhibition, and highlight the BET inhibitor mivebresib as a promising candidate for further clinical evaluation.

28 days ago

Journal

BAP1 (BRCA1 Associated Protein 1)

BAP1 mutation

mivebresib (ABBV 075)

Characterization of somatic mutations in sporadic uveal melanoma and uveal melanoma in patients with germline BAP1 pathogenic variants. (PubMed, PLoS One)

All patients with stage III tumors and a somatic BAP1 mutation (n = 7) developed metastasis, however four of 28 stage I-II tumors without metastasis had somatic BAP1 mutations, with observation time >5 years. The tumor from one germline BAP1 carrier (stage IIIC) with a somatic EIF1AX splice variant, has not developed metastasis within a 22-year observation time.

1 month ago

Journal

BAP1 (BRCA1 Associated Protein 1) • EIF1AX (Eukaryotic Translation Initiation Factor 1A X-Linked)

BAP1 mutation

The Impact of Spliceosome Inhibition in SF3B1-Mutated Uveal Melanoma. (PubMed, Invest Ophthalmol Vis Sci)

Moreover, E7107 had the greatest effect on intron retention. This study indicates/suggests that mutated SF3B1 UM cells are more sensitive to the splicing inhibitor E7107 than wild-type SF3B1 UM cells.

1 month ago

Journal

SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1) • CASP3 (Caspase 3)

SF3B1 mutation • BAP1 mutation

Uveal Melanoma: Molecular and Genetic Mechanisms of Development and Therapeutic Approaches (PubMed, Mol Biol (Mosk))

New drugs undergoing clinical trials are mostly targeted drugs designed to inhibit the protein products of mutant genes or immunotherapeutic agents designed to stimulate the immune response against specific antigens. In addition to these approaches, potential therapeutic targets of epigenetic regulation of UM development are considered in the review.

1 month ago

Review • Journal • IO biomarker

GNAQ (G Protein Subunit Alpha Q) • SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11) • EIF1AX (Eukaryotic Translation Initiation Factor 1A X-Linked)

GNAQ mutation • SF3B1 mutation • BAP1 mutation

Kimmtrak (tebentafusp-tebn)

2ms

CHANGEABLE: Combination of HX008 And Niraparib in GErm-line-mutAted Metastatic Breast Cancer (clinicaltrials.gov)

P2, N=37, Completed, Fudan University | Recruiting --> Completed

2 months ago

Trial completion • Metastases

HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • BAP1 (BRCA1 Associated Protein 1) • CDK12 (Cyclin dependent kinase 12) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • FANCF (FA complementation group F) • WRN (WRN RecQ Like Helicase) • FANCM (FA Complementation Group M) • FANCD2 (FA Complementation Group D2) • FANCE (FA Complementation Group E) • FANCC (FA Complementation Group C)

HER-2 positive • BRCA2 mutation • BRCA1 mutation • HR positive • HER-2 negative • ATM mutation • PALB2 mutation • CDK12 mutation • BAP1 mutation • CHEK2 mutation • BRIP1 mutation • RAD51C mutation • FANCA mutation • HR positive + HER-2 negative • RAD50 mutation • BARD1 mutation • BLM mutation • CHEK1 mutation • FANCF mutation • MRE11A mutation • NBN mutation • FANCM mutation • PTEN mutation + HR positive • CHEK1 expression • HER-2 negative + HR positive + BRCA mutation

Herceptin (trastuzumab) • Zejula (niraparib) • Puyouheng (pucotenlimab)

2ms

A comprehensive review of PRAME and BAP1 in melanoma: Genomic instability and immunotherapy targets. (PubMed, Cell Signal)

Inhibition of poly(ADP-ribose) polymerase-1 (PARP-1) and PARP-2 in cells expressing PRAME could lead to potential therapeutic applications. Pathway enrichment analysis underscores the significance of PRAME and BAP1 in melanoma pathogenesis.

2 months ago

Review • Journal • BRCA Biomarker • PARP Biomarker • IO biomarker

BAP1 (BRCA1 Associated Protein 1) • PRAME (Preferentially Expressed Antigen In Melanoma) • MIR211 (MicroRNA 211) • PARP2 (Poly(ADP-Ribose) Polymerase 2)

BAP1 mutation • PRAME expression • PARP1 expression

2ms

Differences in mutations across tumour sizes in clear-cell renal cell carcinoma. (PubMed, BJU Int)

Large and small ccRCCs are genomically different. Aggressive mutations, namely, SETD2, BAP1, and CDKN2A loss, are rarely observed in small ccRCCs and are observed more frequently in larger tumours. However, when present in tumours ≤7 cm, SETD2 mutations and CDKN2A loss were still independently associated with invasive disease, metastasis, worse survival, and recurrence after resection, after controlling for size.

2 months ago

Journal

CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PBRM1 (Polybromo 1) • BAP1 (BRCA1 Associated Protein 1) • VHL (von Hippel-Lindau tumor suppressor) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase)

CDKN2A mutation • PBRM1 mutation • BAP1 mutation • VHL mutation • SETD2 mutation

2ms

Racial and Sex Differences in Genomic Profiling of Intrahepatic Cholangiocarcinoma. (PubMed, Ann Surg Oncol)

Distinct genomic variations exist in iCCA across race and sex. Differences in mutational profiles of iCCA patients highlight the importance of including a diverse patient population in iCCA clinical trials as well as the importance of recognizing different genetic drivers that may be targetable to treat distinct patient cohorts.

2 months ago

Journal

TP53 (Tumor protein P53) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • BAP1 (BRCA1 Associated Protein 1)

TP53 mutation • IDH1 mutation • FGFR2 mutation • BAP1 mutation

2ms

Genomic landscape of cutaneous, acral, mucosal, and uveal melanoma in Japan: analysis of clinical comprehensive genomic profiling data. (PubMed, Int J Clin Oncol)

The distinct genomic profiling in Japanese patients, including lower TMB, compared to Caucasians, is associated with poorer treatment outcomes. This result underscores the need for more effective therapeutic agents.

2 months ago

Journal • Tumor mutational burden • MSi-H Biomarker • IO biomarker

BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSI (Microsatellite instability) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF1 (Neurofibromin 1) • GNAQ (G Protein Subunit Alpha Q) • SF3B1 (Splicing Factor 3b Subunit 1) • CCND1 (Cyclin D1) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11) • CDK4 (Cyclin-dependent kinase 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)

BRAF V600E • MSI-H/dMMR • NRAS mutation • BRAF V600 • BRAF V600K • NF1 mutation • SF3B1 mutation • GNA11 mutation • BAP1 mutation • NRAS G13

6ms

Pathological and Molecular Diagnosis of Uveal Melanoma. (PubMed, Diagnostics (Basel))

Genetic information could help better explain peculiarities in uveal melanoma, such as the low long-term survival despite effective primary tumor treatment, the overwhelming propensity to metastasize to the liver, and possibly therapeutic behaviors. (4) Understanding of uveal melanoma has improved step-by-step from histopathology to clinical classification to more recent genetic understanding of oncogenic initiation and progression.

6 months ago

Review • Journal

GNAQ (G Protein Subunit Alpha Q) • SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11) • CYSLTR2 (Cysteinyl Leukotriene Receptor 2) • EIF1AX (Eukaryotic Translation Initiation Factor 1A X-Linked) • PLCB4 (Phospholipase C Beta 4)

GNAQ mutation • BAP1 mutation

6ms

Evaluate the Safety and Clinical Activity of HH2853 (clinicaltrials.gov)

P1/2, N=254, Recruiting, Haihe Biopharma Co., Ltd. | N=168 --> 254

6 months ago

Enrollment change • Metastases

ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1)

ARID1A mutation • BAP1 mutation • EZH2 mutation • SMARCA4 mutation

HH2853

6ms

Pemigatinib in previously treated solid tumors with activating FGFR1-FGFR3 alterations: phase 2 FIGHT-207 basket trial. (PubMed, Nat Med)

New therapeutic areas for FGFR inhibition and drug failure mechanisms were identified across tumor types. ClinicalTrials.gov identifier: NCT03822117 .

6 months ago

P2 data • Journal • Pan tumor

TP53 (Tumor protein P53) • FGFR3 (Fibroblast growth factor receptor 3) • FGFR1 (Fibroblast growth factor receptor 1) • BAP1 (BRCA1 Associated Protein 1)

TP53 mutation • BAP1 mutation

Pemazyre (pemigatinib)

7ms

Recent Advances in Pathology of Intrahepatic Cholangiocarcinoma. (PubMed, Cancers (Basel))

Accurate diagnosis of ICCA is essential for effective patient management and prognostic determination. This article provides an updated overview of ICCA pathology, focusing particularly on molecular features, histological subtypes, and diagnostic approaches.

7 months ago

Review • Journal

EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1)

TP53 mutation • KRAS mutation • BRAF mutation • ARID1A mutation • FGFR2 mutation • FGFR2 fusion • BAP1 mutation

7ms

Primary leptomeningeal melanocytic neoplasms: a clinicopathologic, immunohistochemical, and molecular study of 12 cases. (PubMed, Hum Pathol)

SF3B1 mutation is first described in two cases of plaque-type blue nevus associated with LMM. Patients with SF3B1 mutation might be related to poor prognosis in LMN.

7 months ago

Journal

CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • GNAQ (G Protein Subunit Alpha Q) • SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11) • EIF1AX (Eukaryotic Translation Initiation Factor 1A X-Linked) • PLCB4 (Phospholipase C Beta 4)

GNAQ mutation • SF3B1 mutation • BAP1 mutation

7ms

Identification and validation of a costimulatory molecule-related signature to predict the prognosis for uveal melanoma patients. (PubMed, Sci Rep)

Finally, based on the Genomics of Drug Sensitivity in Cancer 2 (GDSC2) dataset, drug sensitivity analysis found that high-risk patients may be potential beneficiaries of the treatment of crizotinib or temozolomide. Taken together, our CM-related prognostic signature is a reliable biomarker that may provide ideas for future treatments for the disease.

7 months ago

Journal • Tumor mutational burden

TMB (Tumor Mutational Burden) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11)

BAP1 mutation

Xalkori (crizotinib) • temozolomide

7ms

Advances in Immunotherapy for Malignant Pleural Mesothelioma: From Emerging Strategies to Translational Insights. (PubMed, Open Respir Arch)

Innovative combination regimens, exemplified by the concurrent administration of nivolumab and ipilimumab, have demonstrated marked improvement in survival and patient's benefits. This review accentuates the transformative capacity of immunotherapy in revolutionizing the therapeutic outlook for MPM, thereby potentially translating into augmented survival rates and offering glimpses of new approaches on the horizon. Despite the persisting challenges, the synergistic crossroads of interdisciplinary research and collaborative clinical endeavors portend a hopeful landscape for MPM treatment.

7 months ago

Review • Journal • BRCA Biomarker • PD(L)-1 Biomarker • IO biomarker

CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF1 (Neurofibromin 1) • PD-1 (Programmed cell death 1) • BAP1 (BRCA1 Associated Protein 1) • NF2 (Neurofibromin 2) • CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4)

BAP1 mutation

Opdivo (nivolumab) • Yervoy (ipilimumab)

7ms

MOICS, a novel classier deciphering immune heterogeneity and aid precise management of clear cell renal cell carcinoma at multiomics level. (PubMed, Cancer Biol Ther)

Additionally, significant differences were observed in the genomic landscapes between the subtypes: MOICS1 exhibited mutations in TTN, BAP1, SETD2, MTOR, MUC16, CSMD3, and AKAP9, while MOICS2 was characterized by notable alterations in the TGF-β pathway. Overall, our work demonstrates that multi-immune omics remodeling analysis enhances the understanding of the immune heterogeneity in ccRCC and supports precise patient management.

7 months ago

Journal

CD8 (cluster of differentiation 8) • mTOR (Mechanistic target of rapamycin kinase) • BAP1 (BRCA1 Associated Protein 1) • MUC16 (Mucin 16, Cell Surface Associated) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • CD4 (CD4 Molecule) • TGFB1 (Transforming Growth Factor Beta 1) • CSMD3 (CUB And Sushi Multiple Domains 3)

BAP1 mutation • MTOR mutation • TTN mutation • SETD2 mutation

7ms

Genomic characterization and detection of potential therapeutic targets for peritoneal mesothelioma in current practice. (PubMed, Clin Exp Med)

Extensive NGS analysis of PeM samples resulted in the identification of potentially effective targeted therapies for about one in four patients. Although these therapies are currently not available for patients with PeM, ongoing developments might result in new treatment options in the future.

7 months ago

Journal • Tumor mutational burden • BRCA Biomarker

TMB (Tumor Mutational Burden) • ATM (ATM serine/threonine kinase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF1 (Neurofibromin 1) • BAP1 (BRCA1 Associated Protein 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • NF2 (Neurofibromin 2)

BAP1 mutation • NF2 mutation

FoundationOne® CDx

7ms

Low Exposures to Amphibole or Serpentine Asbestos in Germline Bap1-mutant Mice Induce Mesothelioma Characterized by an Immunosuppressive Tumor Microenvironment. (PubMed, Cancer Res Commun)

Chrysotile induced a more profound immune tumor response than crocidolite in Bap1-mutant mice by upregulating CD39/CD73-adenosine and Ccl2/Ccr2 pathways and recruiting more M2 macrophages, which together contributed to an immunosuppressive tumor microenvironment. Interrogation of human MM RNA-seq data revealed interconnected immunosuppressive pathways consistent with our mouse findings.

7 months ago

Preclinical • Journal • IO biomarker

BAP1 (BRCA1 Associated Protein 1) • IL6 (Interleukin 6) • CD73 (5'-Nucleotidase Ecto) • CD163 (CD163 Molecule) • IL10 (Interleukin 10) • CCL2 (Chemokine (C-C motif) ligand 2) • CCR2 (C-C Motif Chemokine Receptor 2) • ENTPD1 (Ectonucleoside Triphosphate Diphosphohydrolase 1)

BAP1 mutation

7ms

The Pediatric and Young Adult Choroidal and Ciliary Body Melanoma Genetic Study, A Survey by the European Ophthalmic Oncology Group. (PubMed, Invest Ophthalmol Vis Sci)

Males had a more favorable survival and disomy 3, and the absence of a BAP1 mutation in the tumor tissue predicted the most favorable metastasis-free survival. A BAP1 germline pathogenic variant was identified in one patient (1%), and a somatic variant based mainly on immunohistochemistry in 13 (42%).

7 months ago

Retrospective data • Journal

BAP1 mutation

8ms

Complex Genomic Rearrangement Patterns in Malignant Pleural Mesothelioma due to Environmental Asbestos Exposure. (PubMed, J Environ Pathol Toxicol Oncol)

We also discovered the SKA3-DDX10 fusion in two MPM genomes, which is a novel finding for MPM. We found that MPM genomes are very complex, suggesting that this highly rearranged pattern is strongly related to driver mutational status like BAP1, TP53 and RB1.

8 months ago

Journal

TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1) • BAP1 (BRCA1 Associated Protein 1) • ERCC2 (Excision repair cross-complementation group 2) • KMT2C (Lysine Methyltransferase 2C) • XRCC1 (X-Ray Repair Cross Complementing 1) • DDX10 (DEAD-Box Helicase 10) • TGFBR1 (Transforming Growth Factor Beta Receptor 1)

TP53 mutation • BAP1 mutation

8ms

SYNERGY-AI: Artificial Intelligence Based Precision Oncology Clinical Trial Matching and Registry (clinicaltrials.gov)

P=N/A, N=50000, Recruiting, Massive Bio, Inc. | Trial completion date: Jun 2025 --> Jun 2027 | Trial primary completion date: Dec 2024 --> Dec 2026

8 months ago

Trial completion date • Trial primary completion date

EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ER (Estrogen receptor) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • NRAS (Neuroblastoma RAS viral oncogene homolog) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • FGFR2 (Fibroblast growth factor receptor 2) • PTEN (Phosphatase and tensin homolog) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • BCL2 (B-cell CLL/lymphoma 2) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • STK11 (Serine/threonine kinase 11) • NPM1 (Nucleophosmin 1) • HRAS (Harvey rat sarcoma viral oncogene homolog) • DNMT3A (DNA methyltransferase 1) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • RB1 (RB Transcriptional Corepressor 1) • CLDN18 (Claudin 18) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • JAK2 (Janus kinase 2) • NRG1 (Neuregulin 1) • POLE (DNA Polymerase Epsilon) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • PD-1 (Programmed cell death 1) • CCND1 (Cyclin D1) • MCL1 (Myeloid cell leukemia 1) • KDR (Kinase insert domain receptor) • PBRM1 (Polybromo 1) • BAP1 (BRCA1 Associated Protein 1) • VEGFA (Vascular endothelial growth factor A) • BCL6 (B-cell CLL/lymphoma 6) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • PTCH1 (Patched 1) • FGFR4 (Fibroblast growth factor receptor 4) • MSH6 (MutS homolog 6) • CDK4 (Cyclin-dependent kinase 4) • MSH2 (MutS Homolog 2) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • MAP2K2 (Mitogen-activated protein kinase kinase 2) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • WT1 (WT1 Transcription Factor) • ATRX (ATRX Chromatin Remodeler) • BRCA (Breast cancer early onset) • RAF1 (Raf-1 Proto-Oncogene Serine/Threonine Kinase) • TSC2 (TSC complex subunit 2) • CHEK2 (Checkpoint kinase 2) • PD-L2 (Programmed Cell Death 1 Ligand 2) • ERBB4 (erb-b2 receptor tyrosine kinase 4) • JAK1 (Janus Kinase 1) • FANCA (FA Complementation Group A) • TSC1 (TSC complex subunit 1) • MDM4 (The mouse double minute 4) • POLD1 (DNA Polymerase Delta 1) • CDK6 (Cyclin-dependent kinase 6) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • AURKA (Aurora kinase A) • JAK3 (Janus Kinase 3) • RICTOR (RPTOR Independent Companion Of MTOR Complex 2) • CHEK1 (Checkpoint kinase 1) • GATA6 (GATA Binding Protein 6) • MSH3 (MutS Homolog 3) • TGFBR2 (Transforming Growth Factor Beta Receptor 2) • GNAS (GNAS Complex Locus) • MYCL (MYCL Proto-Oncogene BHLH Transcription Factor) • AKT2 (V-akt murine thymoma viral oncogene homolog 2) • CCND2 (Cyclin D2) • CCND3 (Cyclin D3) • CSF1R (Colony stimulating factor 1 receptor) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1) • ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit) • HDAC1 (Histone Deacetylase 1) • PRDM1 (PR/SET Domain 1) • ZNF217 (Zinc Finger Protein 217) • CDKN1A (Cyclin-dependent kinase inhibitor 1A) • GATA3 (GATA binding protein 3) • PARP2 (Poly(ADP-Ribose) Polymerase 2) • PARP3 (Poly(ADP-Ribose) Polymerase Family Member 3) • SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A) • ACVR1B (Activin A Receptor Type 1B) • ZNF703 (Zinc Finger Protein 703)

HER-2 mutation • BAP1 mutation • AKT1 mutation • FGFR3 fusion • JAK3 mutation

8ms

Our study first investigated the role of centrosome-related genes in UVM overall survival (OS). We then constructed a centrosome-related gene signature for UVM, which provides new insights into the role of CA in UVM and identifies novel centrosome-related biomarkers.

8 months ago

Journal • Gene Signature

SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1) • CCND3 (Cyclin D3)

SF3B1 mutation • BAP1 mutation

8ms

Evaluate the Safety and Clinical Activity of HH2853 (clinicaltrials.gov)

P1/2, N=168, Recruiting, Haihe Biopharma Co., Ltd. | Trial completion date: Dec 2024 --> Dec 2025 | Trial primary completion date: Dec 2023 --> Dec 2025

8 months ago

Trial completion date • Trial primary completion date • Metastases

ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1)

ARID1A mutation • BAP1 mutation • EZH2 mutation • SMARCA4 mutation

HH2853

8ms

The Prevalence and Radiologic Features of Renal Cancers Associated with FLCN, BAP1, SDH, and MET Germline Mutations. (PubMed, Radiol Imaging Cancer)

Within the study sample size limits, imaging findings for hereditary RCC overlapped with those of nonhereditary RCC, and the prevalence of other associated benign solid renal lesions (other than complex cysts) was up to 11%. Keywords: Familial Renal Cell Carcinoma, Birt-Hogg-Dubé Syndrome, Carcinoma, Renal Cell, Paragangliomas, Urinary, Kidney

8 months ago

Journal

MET (MET proto-oncogene, receptor tyrosine kinase) • BAP1 (BRCA1 Associated Protein 1) • FLCN (Folliculin)

BAP1 mutation • MET mutation • FLCN mutation

8ms

Whole-genome DNA methylation profiling of intrahepatic cholangiocarcinoma reveals prognostic subtypes with distinct biological drivers. (PubMed, Cancer Res)

Further integrative and functional analyses identified GBP4 demethylation, which is highly prevalent in the S2 and S3 groups, as an epigenetic oncogenic factor that regulates iCCA proliferation, migration, and invasion. Together, this study identifies prognostic methylome alterations and epigenetic drivers in iCCA.

8 months ago

Journal • Tumor mutational burden • Epigenetic controller

KRAS (KRAS proto-oncogene GTPase) • TMB (Tumor Mutational Burden) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • BAP1 (BRCA1 Associated Protein 1) • GBP4 (Guanylate Binding Protein 4)

TMB-H • FGFR2 mutation • FGFR2 fusion • BAP1 mutation

8ms

Genomic characterization of recurrent uRCC tumors (AUA 2024)

uRCC demonstrates an aggressive disease course with 55% of patients recurring. We identified genomic alterations correlating with recurrence, which may help select patients for treatment intensification, though confirmatory studies are required.

8 months ago

Tumor mutational burden

TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PBRM1 (Polybromo 1) • BAP1 (BRCA1 Associated Protein 1) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase)

TMB-H • PBRM1 mutation • BAP1 mutation

MSK-IMPACT

8ms

Differences in genomic, transcriptomic and immune landscape of prostate cancer (PCa) based on site of metastasis (mets) (AUA 2024)

This study highlights distinct molecular profiles in metastatic prostate cancer (PCa) based on metastasis site, underlining the importance of personalized treatment strategies. The findings, particularly the variations in gene mutations and AR signaling, are crucial in tailoring management approaches for advanced PCa.

8 months ago

Tumor mutational burden • PD(L)-1 Biomarker • MSi-H Biomarker • IO biomarker

PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • BAP1 (BRCA1 Associated Protein 1) • IFNG (Interferon, gamma) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • KMT2C (Lysine Methyltransferase 2C) • APC (APC Regulator Of WNT Signaling Pathway) • SPOP (Speckle Type BTB/POZ Protein)

TP53 mutation • TMB-H • MSI-H/dMMR • PIK3CA mutation • PTEN mutation • BAP1 mutation • APC mutation • AR mutation • AR splice variant 7

VENTANA PD-L1 (SP142) Assay • MI Tumor Seek™

9ms

Emerging therapeutic strategies for metastatic uveal melanoma: Targeting driver mutations. (PubMed, Pigment Cell Melanoma Res)

Furthermore, in preclinical studies, actionable targets associated with BAP1 loss or oncogenic mutant SF3B1 have been identified, offering promising avenues for UM treatment. This review aims to summarize the emerging targeted and epigenetic therapeutic strategies for metastatic UM carrying specific driver mutations and the potential of combining these approaches with immunotherapy, with particular focus on those in upcoming or ongoing clinical trials.

9 months ago

Review • Journal • BRCA Biomarker • IO biomarker • Metastases

GNAQ (G Protein Subunit Alpha Q) • SF3B1 (Splicing Factor 3b Subunit 1) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11)

BRCA1 mutation • GNAQ mutation • BAP1 mutation

9ms

IDENTHY-K: IDEntification of New Predisposition Genes in Differentiated THYroid Cancer (clinicaltrials.gov)

P=N/A, N=34, Active, not recruiting, Nantes University Hospital | Recruiting --> Active, not recruiting | N=95 --> 34

9 months ago

Enrollment closed • Enrollment change

BAP1 (BRCA1 Associated Protein 1) • DICER1 (Dicer 1 Ribonuclease III)

BAP1 mutation

9ms

Germline mutations of homologous recombination genes and clinical outcomes in pancreatic cancer: a multicenter study in Taiwan. (PubMed, J Biomed Sci)

Our study showed that nearly 20% of Taiwanese PDAC patients carried germline P/LP variants. The longer survival observed in gHRmut patients treated with 1L platinum-based chemotherapy highlights the importance of germline testing for all patients with advanced PDAC at diagnosis.

9 months ago

Clinical • Clinical data • Journal • BRCA Biomarker

BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BAP1 (BRCA1 Associated Protein 1) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • MUTYH (MutY homolog) • FANCC (FA Complementation Group C)

BRCA1 mutation • ATM mutation • PALB2 mutation • BAP1 mutation • CHEK2 mutation • BRIP1 mutation • FANCA mutation • BLM mutation • NBN mutation

9ms

Quantification of eosinophilic area and its potential molecular feature in clear cell renal cell carcinoma. (PubMed, Jpn J Clin Oncol)

The quantification of the eosinophilic feature serves as a robust predictor of clinical prognosis in clear cell renal cell carcinoma. Furthermore, the manifestation of this feature may be linked to BAP1 mutations and the down-regulation of Erythroblast Transformation-Specific-Related Gene in clear cell renal cell carcinoma. Significantly, the expression levels of Erythroblast Transformation-Specific-Related Gene manifest as an exemplary prognostic marker, providing exceptional predictive accuracy for the clinical prognosis in clear cell renal cell carcinoma.

9 months ago

Journal

BAP1 (BRCA1 Associated Protein 1)

BAP1 mutation

9ms

Integrated analyses of the genetic and clinicopathological features of cholangiolocarcinoma: cholangiolocarcinoma may be characterized by mismatch-repair deficiency. (PubMed, J Pathol)

In contrast, CLC has characteristics of dMMR tumors that are not found in iCCA, suggesting that it should be treated distinctly from iCCA.

9 months ago

Journal • Mismatch repair

IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • BAP1 (BRCA1 Associated Protein 1) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • NCAM1 (Neural cell adhesion molecule 1) • EPCAM (Epithelial cell adhesion molecule) • KRT19 (Keratin 19) • SALL4 (Spalt Like Transcription Factor 4)

MSI-H/dMMR • BAP1 mutation

9ms

Ovarian steroid cell tumors: what do we know so far? (PubMed, Front Oncol)

In malignant SCT, the tumors generally show greater global genomic instability, copy number gains in oncogenes, and occasional BAP1 mutation. Future studies involving multi-institutional cohort and unbiased molecular profiling using whole exome/transcriptome sequencing are needed to help advance our molecular understanding of SCTs.

9 months ago

Review • Journal

BAP1 (BRCA1 Associated Protein 1)

BAP1 mutation

9ms

Beyond typical histology of BAP1-inactivated melanocytoma. (PubMed, Pathol Res Pract)

In the current article, we focus on some new histological features, attempting to explain and link them to certain mechanisms of tumor development, including senescence, endoreplication, endocycling, asymmetric cytokinesis, entosis and others. In light of the morphological and molecular findings observed in BIM, we postulated that this entity unmasks a fine mechanism of tumor in which both clonal/stochastic and hierarchical model can be unified.

9 months ago

Review • Journal • BRCA Biomarker

BRAF (B-raf proto-oncogene) • BRCA1 (Breast cancer 1, early onset) • BAP1 (BRCA1 Associated Protein 1)

BRAF mutation • BAP1 mutation

9ms

Tissue genomic profiling of pleural mesothelioma patients treated with immunotherapy: Unraveling genetic alterations and complexity (ELCC 2024)

Conclusions Our study did not identify predictive or prognostic factors for IO outcomes in unresectable PM, emphasizing the complexity and heterogeneity of PM. Further research with larger cohorts is crucial to unveil biomarkers in this setting.

9 months ago

Clinical • Tumor mutational burden • IO biomarker

PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • BAP1 (BRCA1 Associated Protein 1) • NF2 (Neurofibromin 2) • FANCA (FA Complementation Group A)

PIK3CA mutation • BAP1 mutation • NF2 mutation • FANCA mutation

FoundationOne® CDx • OmniSeq INSIGHT

10ms

Unveiling the hidden role of disulfidptosis in kidney renal clear cell carcinoma: a prognostic signature for personalized treatment. (PubMed, Apoptosis)

Besides, the correlation between the DRPS score and the chemotherapy-response signature indicated the potential effect of Gefitinib for high-risk patients...The DRPS model enables improved clinical management and personalized KIRC therapy. The identified biomarkers and immune characteristics offer new mechanistic insight into disulfidptosis in KIRC.

10 months ago

Journal • IO biomarker

BAP1 (BRCA1 Associated Protein 1) • AHNAK2 (AHNAK Nucleoprotein 2) • FOXM1 (Forkhead Box M1) • CHAC1 (ChaC Glutathione Specific Gamma-Glutamylcyclotransferase 1) • SHOX2 (SHOX Homeobox 2)

BAP1 mutation • AHNAK2 mutation

gefitinib

10ms

Molecular prognostication in grade 3 meningiomas and p16/MTAP immunohistochemistry for predicting CDKN2A/B status. (PubMed, Neurooncol Adv)

Molecular alterations of grade 3 meningiomas stratify clinical outcomes more so than histologic features alone. Immunohistochemical loss of p16 and MTAP show promise in predicting CDKN2A/B status.

10 months ago

Journal

CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • MTAP (Methylthioadenosine Phosphorylase) • BAP1 (BRCA1 Associated Protein 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)

CDKN2A deletion • CDKN2A mutation • BAP1 mutation • TERT mutation