Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.L573delFs
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BAP1

NM_004656.4:p.L573delFs

Associated Papers

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

Meningioma with trabecular architecture: a harbinger of BAP1 deficiency.

Okuno N et al.

Brain Tumor Pathology, 2025

Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.

Fiasconaro CA et al.

Diseases (basel, Switzerland), 2025

An overview of BAP1 biological functions and current therapeutics.

Elsayed AM et al.

Biochimica Et Biophysica Acta. Reviews on Cancer, 2025

Saturation genome editing of BAP1 functionally classifies somatic and germline variants.

Waters AJ et al.

Nature Genetics, 2024

38969833 (PubMed )
Supplement: 41588_2024_1799_MOESM7_ESM.xlsx › Supplementary_Table_4

BRCA1-associated protein 1: Tumor predisposition syndrome and Kury-Isidor syndrome, from genotype-phenotype correlation to clinical management.

West EC et al.

Clinical Genetics, 2024

Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.

Mitchell OD et al.

Jama Network Open, 2023

37556141 (PubMed )
Supplement: jamanetwopen-e2327351-s001.pdf

Two unique BAP1 pathogenic variants identified in the same family by panel cascade testing.

Byrne L 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

36773602 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Meningiomas in Patients With Malignant Pleural Mesothelioma Harboring Germline BAP1 Mutations.

Hu ZI et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2022

Sensitivity of Mesothelioma Cells to PARP Inhibitors Is Not Dependent on BAP1 but Is Enhanced by Temozolomide in Cells With High-Schlafen 11 and Low-O6-methylguanine-DNA Methyltransferase Expression.

Rathkey D et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2020

BAP1 Germline Mutation Associated with Bilateral Primary Uveal Melanoma.

Yu MD et al.

Ocular Oncology and Pathology, 2020

The morphologic spectrum of germline-mutated BAP1-inactivated melanocytic tumors includes lesions with conventional nevic melanocytes: A case report and review of literature.

Wysozan TR et al.

Journal of Cutaneous Pathology, 2019

Germline large deletion of BAP1 and decreased expression in non-tumor choroid in uveal melanoma patients with high risk for inherited cancer.

Boru G et al.

Genes, Chromosomes & Cancer, 2019

BRCA1-Associated Protein-1 Tumor Predisposition Syndrome in a Patient With Numerous Basal Cell Carcinomas.

Ren V et al.

Dermatologic Surgery : Official Publication for American Society for Dermatologic Surgery [et Al.], 2019

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

Identification of Targetable ALK Rearrangements in Pancreatic Ductal Adenocarcinoma.

Singhi AD et al.

Journal of the National Comprehensive Cancer Network : Jnccn, 2017

Germline BAP1 alterations in familial uveal melanoma.

Rai K et al.

Genes, Chromosomes & Cancer, 2017

Germline BAP1 mutations misreported as somatic based on tumor-only testing.

Abdel-Rahman MH et al.

Familial Cancer, 2016

Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases.

Rai K et al.

Clinical Genetics, 2016

Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer.

Ohar JA et al.

Cancer Research, 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

26452128 (PubMed )
Supplement: oncotarget-06-32161-s002.xls › Predictions

Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients.

Cebulla CM et al.

Ophthalmic Genetics, 2015

Establishment of novel cell lines recapitulating the genetic landscape of uveal melanoma and preclinical validation of mTOR as a therapeutic target.

Amirouchene-Angelozzi N et al.

Molecular Oncology, 2014

Crystalline Lens Resorption Caused by Ciliary Body Melanoma.

Carrera WM et al.

Case Reports in Oncology, 0

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