Associated Papers
MRD4U: A path to development for personalized liquid biopsy for children with central nervous system tumors.
Miller AR et al.
Bmc Cancer, 2025
Digital PCR-based genetic profiling from vitreous fluid as liquid biopsy for primary uveal melanoma: a proof-of-concept study.
Nell RJ et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Saturation genome editing of BAP1 functionally classifies somatic and germline variants.
Waters AJ et al.
Nature Genetics, 2024
Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome.
Abbassi YA et al.
Familial Cancer, 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
Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Álvarez-Prado ÁF et al.
Cell Reports. Medicine, 2023
Intrinsic Disorder in BAP1 and Its Association with Uveal Melanoma.
Djulbegovic MB et al.
Genes, 2022
Correlation between BAP1 Localization, Driver Mutations, and Patient Survival in Uveal Melanoma.
Cole YC et al.
Cancers, 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
Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience.
Sculco M et al.
Diagnostics (basel, Switzerland), 2022
Driver mutations of intrahepatic cholangiocarcinoma shape clinically relevant genomic clusters with distinct molecular features and therapeutic vulnerabilities.
Wang XY et al.
Theranostics, 2022
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
Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.
Lee WS et al.
Scientific Reports, 2021
Distinct Somatic Alteration Features Identified by Gene Panel Sequencing in Korean Triple-Negative Breast Cancer with High Ki67 Expression.
Sun WY et al.
Diagnostics (basel, Switzerland), 2021
Molecular profiling of driver events in metastatic uveal melanoma.
Karlsson J et al.
Nature Communications, 2020
Functional characterisation guides classification of novel BAP1 germline variants.
Hong JH et al.
Npj Genomic Medicine, 2020
Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma.
Ewens KG et al.
Bmc Cancer, 2018
Familial and Somatic BAP1 Mutations Inactivate ASXL1/2-Mediated Allosteric Regulation of BAP1 Deubiquitinase by Targeting Multiple Independent Domains.
Peng H et al.
Cancer Research, 2018
Loss of BAP1 expression is associated with genetic mutation and can predict outcomes in gallbladder cancer.
Hirosawa T et al.
Plos One, 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
Integrative Genomic Analysis of Cholangiocarcinoma Identifies Distinct IDH-Mutant Molecular Profiles.
Farshidfar F et al.
Cell Reports, 2017
Systematic genomic and translational efficiency studies of uveal melanoma.
Johnson CP et al.
Plos One, 2017
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases.
Rai K et al.
Clinical Genetics, 2016
Gender-Specific Molecular and Clinical Features Underlie Malignant Pleural Mesothelioma.
De Rienzo A et al.
Cancer Research, 2016
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
Primary leptomeningeal melanoma is part of the BAP1-related cancer syndrome.
de la Fouchardière A et al.
Acta Neuropathologica, 2015
Genetics of familial melanoma: 20 years after CDKN2A.
Aoude LG et al.
Pigment Cell & Melanoma Research, 2015
Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline.
Lee IH et al.
Human Mutation, 2014
Germline BAP1 mutations predispose to renal cell carcinomas.
Popova T et al.
American Journal of Human Genetics, 2013
Frequent mutation of BAP1 in metastasizing uveal melanomas.
Harbour JW et al.
Science (new York, N.y.), 2010
Longitudinal profiling of IDH-mutant astrocytomas reveals acquired RAS-MAPK pathway mutations associated with inferior survival.
Rodriguez Almaraz E et al.
Neuro-oncology Advances, 0