Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.L573fs
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BAP1

NM_004656.4:p.L573fs

Associated Papers

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc4.xlsx › Table_S10B

Meningioma with trabecular architecture: a harbinger of BAP1 deficiency.

Okuno N et al.

Brain Tumor Pathology, 2025

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

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

Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia.

Gupta S et al.

Jama Network Open, 2021

Heritability of Low ER Staining/HER2-Breast Tumors: Are We Missing an Opportunity for Germline Testing?

Lovejoy LA et al.

Genes, 2020

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

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

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

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

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

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

Further evidence for germline BAP1 mutations predisposing to melanoma and malignant mesothelioma.

Cheung M et al.

Cancer Genetics, 2013

Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families.

Njauw CN et al.

Plos One, 2012

Crystalline Lens Resorption Caused by Ciliary Body Melanoma.

Carrera WM et al.

Case Reports in Oncology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."