Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.Q684*
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BAP1

NM_004656.4:p.Q684*

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

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

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc4.xlsx › Table_S10B

Prognostic significance of circulating tumor DNA alterations in advanced renal cell carcinoma from SCRUM-Japan MONSTAR-SCREEN: a nationwide genomic profiling project.

Kato T et al.

British Journal of Cancer, 2025

40325148 (PubMed )
Supplement: 41416_2025_2985_MOESM2_ESM.xlsx › Supplementary_Table_S2

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

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

Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.

Han SH et al.

European Urology Open Science, 2024

38496821 (PubMed )
Supplement: mmc2.xlsx › Table_S5

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1

The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.

Tsantikidi A et al.

Diagnostics (basel, Switzerland), 2023

37761329 (PubMed )
Supplement: diagnostics-13-02962-s001.zip › supplementary__Table_S2.xlsx › Table_S2_Samples_analyzed

Family Matters: Germline Testing in Thoracic Cancers.

Hathaway F et al.

American Society of Clinical Oncology Educational Book. American Society of Clinical Oncology. Annual Meeting, 2023

Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.

Vasudev NS et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36815791 (PubMed )
Supplement: ccr-22-1936_supplementary_table_s2_suppts2.xlsx › Sheet1

Genetics and RNA Regulation of Uveal Melanoma.

Barbagallo C et al.

Cancers, 2023

Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.

Han S et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36712083 (PubMed )
Supplement: media-1.xlsx › eTable.4

Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis.

Johnson TA et al.

Human Molecular Genetics, 2023

35981075 (PubMed )
Supplement: johnsonta_datas2_ddac180.zip › JohnsonTA_DataS2_ddac180.pdf

The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.

Yang Y et al.

Bmc Urology, 2022

Clinical and molecular validation of BAP1, MTAP, P53, and Merlin immunohistochemistry in diagnosis of pleural mesothelioma.

Chapel DB et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

35459788 (PubMed )
Supplement: NIHMS1793523-supplement-Supplemental_Table_6.xlsx › Sheet1

Tumor suppressor BAP1 nuclear import is governed by transportin-1.

Yang TJ et al.

The Journal of Cell Biology, 2022

Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Sánchez-Rivera FJ et al.

Nature Biotechnology, 2022

35165384 (PubMed )
Supplement: NIHMS1760571-supplement-Supplementary_Table_S2.xlsx › Table_S2D

KRAS signaling in malignant pleural mesothelioma.

Marazioti A et al.

Embo Molecular Medicine, 2022

34898002 (PubMed )
Supplement: EMMM-14-e13631-s002.xlsx › Source_Data_-_Fig_3H_part_A

Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Nastase A et al.

Scientific Reports, 2021

34580349 (PubMed )
Supplement: 41598_2021_98414_MOESM2_ESM.xlsx › Table_2_WES_var

The Rarest of the Rare: A Case of BAP1-Mutated Primary Peritoneal Mesothelioma.

Gupta A et al.

Cureus, 2021

Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Bakouny Z et al.

Nature Communications, 2021

33547292 (PubMed )
Supplement: 41467_2021_21068_MOESM4_ESM.xlsx › oncop_maf

Clinicopathological and prognostic impact of somatic mutations in Chinese patients with clear cell renal cell carcinoma.

Bi H et al.

Translational Andrology and Urology, 2020

33457247 (PubMed )
Supplement: tau-09-06-2751-supplementary.pdf

Ancestry-specific predisposing germline variants in cancer.

Oak N et al.

Genome Medicine, 2020

32471518 (PubMed )
Supplement: 13073_2020_744_MOESM2_ESM.xlsx › S5b.SomaticRNAseq

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

Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma.

Panou V et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2018

Analysis of the exome aggregation consortium (ExAC) database suggests that the BAP1-tumor predisposition syndrome is underreported in cancer patients.

Massengill JB et al.

Genes, Chromosomes & Cancer, 2018

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Yehia L et al.

Plos Genetics, 2018

29684080 (PubMed )
Supplement: pgen.1007352.s008.xlsx › S7_Table

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

BAP1 Is Altered by Copy Number Loss, Mutation, and/or Loss of Protein Expression in More Than 70% of Malignant Peritoneal Mesotheliomas.

Leblay N et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2017

Germline BAP1 alterations in familial uveal melanoma.

Rai K et al.

Genes, Chromosomes & Cancer, 2017

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

Rai K et al.

Clinical Genetics, 2016

Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4.

Johansson P et al.

Oncotarget, 2016

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 2015

26689913 (PubMed )
Supplement: ncomms10086-s11.xlsx › supplementary_data_10

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

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
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