Associated Papers
Saturation genome editing of BAP1 functionally classifies somatic and germline variants.
Waters AJ et al.
Nature Genetics, 2024
38969833 (PubMed )
Supplement: 41588_2024_1799_MOESM19_ESM.xlsx › extended_data_fig_7_j
Distinct Driver Pathway Enrichments and a High Prevalence of TSC2 Mutations in Right Colon Cancer in Chile: A Preliminary Comparative Analysis.
Tapia-Valladares C et al.
International Journal of Molecular Sciences, 2024
38731914 (PubMed )
Supplement: ijms-25-04695-s001.zip › ijms-2890573-supplementary.pdf
Genetic Alterations in Renal Cancers: Identification of The Mechanisms Underlying Cancer Initiation and Progression and of Therapeutic Targets.
Testa U et al.
Medicines (basel, Switzerland), 2020
Functional characterisation guides classification of novel BAP1 germline variants.
Hong JH et al.
Npj Genomic Medicine, 2020
Mutational Landscape of the BAP1 Locus Reveals an Intrinsic Control to Regulate the miRNA Network and the Binding of Protein Complexes in Uveal Melanoma.
Sharma A et al.
Cancers, 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
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
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
26683624 (PubMed )
Supplement: pgen.1005633.s003.pdf
BAP1 germline mutation in two first grade family members with uveal melanoma.
Maerker DA et al.
The British Journal of Ophthalmology, 2014
The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk Assessment.
Battaglia A
Clinical Medicine Insights. Oncology, 2014
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