Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.L573fs
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BAP1

NM_004656.4:p.L573fs

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

40774608 (PubMed )
Supplement: NIHMS2108845-supplement-MMC19.pdf

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

Unveiling the genetic landscape of hereditary melanoma: From susceptibility to surveillance.

Zheng C et al.

Cancer Treatment and Research Communications, 2024

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

Mitchell OD et al.

Jama Network Open, 2023

Molecular characterization of diffuse malignant peritoneal mesothelioma.

Hung YP et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

Distinct Mutation Patterns Reveal Melanoma Subtypes and Influence Immunotherapy Response in Advanced Melanoma Patients.

Hilke FJ et al.

Cancers, 2020

32825510 (PubMed )
Supplement: cancers-12-02359-s001.zip › cancers-898298-supplementary › SupplementTable_1-14_20200710.xlsx › Table_S5

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

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.

Walpole S et al.

Journal of the National Cancer Institute, 2018

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

Rai K et al.

Clinical Genetics, 2016

BAP1 and cancer.

Carbone M et al.

Nature Reviews. Cancer, 2013

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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."