Associated Papers
Clinical and Pathologic Phenotyping of Mesotheliomas Developing in Carriers of Germline BAP1 Mutations.
Carbone M et al.
Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2025
Prospective Analysis of Mesotheliomas in Subjects With BAP1 Cancer Syndrome: Clinical Characteristics and Epigenetic Correlates of Disease.
Wu X et al.
Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2025
Hypopigmented Junctional BAP1-Inactivated Melanocytoma: A Paradigm Shift.
Gunesch A et al.
Journal of Cutaneous Pathology, 2025
Co-occurrence of EIF1AX, SF3B1, or BAP1 variants in uveal melanomas: A case series and review.
Skrehot HC et al.
American Journal of Ophthalmology Case Reports, 2025
Comprehensive genomic and transcriptomic analysis enables molecularly guided therapy options in peritoneal and pleural mesothelioma.
Möhrmann L et al.
Esmo Open, 2025
An Optimized NGS Workflow Defines Genetically Based Prognostic Categories for Patients with Uveal Melanoma.
Massimino M et al.
Biomolecules, 2025
Microdissection of Distinct Morphological Regions Within Uveal Melanomas Identifies Novel Drug Targets.
Toumi E et al.
Cancers, 2024
Base-excision repair pathway shapes 5-methylcytosine deamination signatures in pan-cancer genomes.
Silveira AB et al.
Nature Communications, 2024
Saturation genome editing of BAP1 functionally classifies somatic and germline variants.
Waters AJ et al.
Nature Genetics, 2024
Clinical and genetic characteristics of BAP1-mutated non-uveal and uveal melanoma.
Matull J et al.
Frontiers in Immunology, 2024
Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.
Rosenberg S et al.
Molecular Oncology, 2023
Family Matters: Germline Testing in Thoracic Cancers.
Hathaway F et al.
American Society of Clinical Oncology Educational Book. American Society of Clinical Oncology. Annual Meeting, 2023
Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.
Vasudev NS et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Intrinsic Disorder in BAP1 and Its Association with Uveal Melanoma.
Djulbegovic MB et al.
Genes, 2022
Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience.
Sculco M et al.
Diagnostics (basel, Switzerland), 2022
Mutational landscape of normal epithelial cells in Lynch Syndrome patients.
Lee BCH et al.
Nature Communications, 2022
Novel insights into the BAP1-inactivated melanocytic tumor.
Donati M et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
Mutation Profile Variability in the Primary Tumor and Multiple Pulmonary Metastases of Clear Cell Renal Cell Carcinoma. A Review of the Literature and Analysis of Four Metastatic Cases.
Prochazkova K et al.
Cancers, 2021
Prognostic Values of G-Protein Mutations in Metastatic Uveal Melanoma.
Terai M et al.
Cancers, 2021
Integrated genomics point to immune vulnerabilities in pleural mesothelioma.
Nastase A et al.
Scientific Reports, 2021
Genomic Landscape of Head and Neck Squamous Cell Carcinoma Across Different Anatomic Sites in Chinese Population.
Ju Y et al.
Frontiers in Genetics, 2021
Distinct Molecular Landscape of Epstein-Barr Virus Associated Pulmonary Lymphoepithelioma-Like Carcinoma Revealed by Genomic Sequencing.
Chau SL et al.
Cancers, 2020
Genetic alterations of malignant pleural mesothelioma: association with tumor heterogeneity and overall survival.
Quetel L et al.
Molecular Oncology, 2020
Molecular profiling of driver events in metastatic uveal melanoma.
Karlsson J et al.
Nature Communications, 2020
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
Chau C et al.
Cancers, 2019
Multi-Modality Analysis Improves Survival Prediction in Enucleated Uveal Melanoma Patients.
Drabarek W et al.
Investigative Ophthalmology & Visual Science, 2019
Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma.
Ewens KG et al.
Bmc Cancer, 2018
Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes.
Betti M et al.
Genes, Chromosomes & Cancer, 2018
Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors.
Rodrigues M et al.
Nature Communications, 2018
Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature.
Haugh AM et al.
Jama Dermatology, 2017
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma.
Betti M et al.
Cancer Letters, 2016
Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.
Jean S et al.
Oncotarget, 2016
Whole Genome Sequencing of Newly Established Pancreatic Cancer Lines Identifies Novel Somatic Mutation (c.2587G>A) in Axon Guidance Receptor Plexin A1 as Enhancer of Proliferation and Invasion.
Sorber R et al.
Plos One, 2016
Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s.
Carbone M et al.
Plos Genetics, 2015
Computational analysis of the mutations in BAP1, PBRM1 and SETD2 genes reveals the impaired molecular processes in renal cell carcinoma.
Piva F et al.
Oncotarget, 2015