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
Genetic mechanisms of resistance to targeted KRAS inhibition.
Diaz BJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Does paired genetic testing improve targeted therapy choices and screening recommendations for patients with upper gastrointestinal cancers and their families? A prospective cohort of 42 patients.
Tatunay K et al.
Bmj Open, 2025
Decoding the molecular landscape: HER2 and PD-L1 in advanced gastric cancer.
Yao J et al.
Frontiers in Immunology, 2025
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
Hereditary Renal Cancer Syndromes.
Yanus GA et al.
Medical Sciences (basel, Switzerland), 2024
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme.
Sosinsky A et al.
Nature Medicine, 2024
Characterization of somatic mutations in sporadic uveal melanoma and uveal melanoma in patients with germline BAP1 pathogenic variants.
Wadt KAW et al.
Plos One, 2024
Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.
Mitchell OD et al.
Jama Network Open, 2023
Genomic and transcriptomic analyses identify a prognostic gene signature and predict response to therapy in pleural and peritoneal mesothelioma.
Nair NU et al.
Cell Reports. Medicine, 2023
Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.
Liu ZX et al.
Jama Network Open, 2022
Potential Targeted Therapies in Ovarian Cancer.
Sisman Y et al.
Pharmaceuticals (basel, Switzerland), 2022
Intrinsic Disorder in BAP1 and Its Association with Uveal Melanoma.
Djulbegovic MB et al.
Genes, 2022
Genomic Profiling of Metastatic Uveal Melanoma Shows Frequent Coexisting BAP1 or SF3B1 and GNAQ/GNA11 Mutations and Correlation With Prognosis.
Isaacson AL et al.
American Journal of Clinical Pathology, 2022
Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.
Sánchez-Rivera FJ et al.
Nature Biotechnology, 2022
Co-occurrence of BAP1 and SF3B1 mutations in uveal melanoma induces cellular senescence.
Yu L et al.
Molecular Oncology, 2022
Profile of esophageal squamous cell carcinoma mutations in Brazilian patients.
Munari FF et al.
Scientific Reports, 2021
PREVALENCE OF MISMATCH REPAIR GENE MUTATIONS IN UVEAL MELANOMA.
Toomey CB et al.
Retina (philadelphia, Pa.), 2020
Distinct Mutation Patterns Reveal Melanoma Subtypes and Influence Immunotherapy Response in Advanced Melanoma Patients.
Hilke FJ et al.
Cancers, 2020
Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours.
Johansson PA et al.
Nature Communications, 2020
Preparation of the standard cell lines for reference mutations in cancer gene-panels by genome editing in HEK 293 T/17 cells.
Suzuki T et al.
Genes and Environment : the Official Journal of the Japanese Environmental Mutagen Society, 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
Inherited predisposition to malignant mesothelioma and overall survival following platinum chemotherapy.
Hassan R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.
Walpole S et al.
Journal of the National Cancer Institute, 2018
Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma.
Ewens KG et al.
Bmc Cancer, 2018
Integrated Genomic Classification of Melanocytic Tumors of the Central Nervous System Using Mutation Analysis, Copy Number Alterations, and DNA Methylation Profiling.
Griewank KG et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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
Activating CYSLTR2 and PLCB4 Mutations in Primary Leptomeningeal Melanocytic Tumors.
van de Nes JAP et al.
The Journal of Investigative Dermatology, 2017
A BAP1 Mutation-specific MicroRNA Signature Predicts Clinical Outcomes in Clear Cell Renal Cell Carcinoma Patients with Wild-type BAP1.
Ge YZ et al.
Journal of Cancer, 2017
Orbital meningeal melanocytoma: Histological, immunohistochemical and molecular characterization of a case and review of the literature.
Palicelli A et al.
Pathology, Research and Practice, 2016
Targeted next generation sequencing reveals unique mutation profile of primary melanocytic tumors of the central nervous system.
van de Nes J et al.
Journal of Neuro-oncology, 2016
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases.
Rai K et al.
Clinical Genetics, 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
A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma.
Wadt KA et al.
Clinical Genetics, 2015