Gene
BAP1
BAP1 is a gene biomarker in the evidence tier "Cancer actionable (CGI)". This page lists evidence by type: Assay-provider ledger (21), Actionable biomarkers (8), Trial mentions (46), and 7 more evidence types, each linked to its source.
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Rows recorded per section (log scale)
2 more sections with rows · 2 sections measured, none recorded
Cancer actionable (CGI)
Evidence over time
Share of that year: what fraction of the trials and papers our biomarker dictionary matched in a year mention BAP1. The denominator is documents that mention any gene, not every registered document, so improving the matcher moves both halves and never rewrites history. Gene named in free-text trial records. A mention, not a validated biomarker. Actionable-biomarker and target-disease-association evidence carries no date in our sources, so it is not on this chart. Publication mentions cover only papers cited by a registered clinical trial, not all of PubMed.
Trial mentions: plotted from 1990 to 2026, the years our matched corpus covers. Not plotted: 2 with a planned future start.
Publication mentions: plotted from 1990 to 2023, the years our matched corpus covers. Not plotted: 11 at the structurally incomplete recent edge.
The yearly numbers
| Year | Trial mentions | Share of that year | Publication mentions | Share of that year |
|---|---|---|---|---|
| 2026 | 3 of 8,738 | 0.03% | not measured | |
| 2025 | 0 of 8,875 | 0.00% | not measured | |
| 2024 | 4 of 8,597 | 0.05% | not measured | |
| 2023 | 3 of 8,275 | 0.04% | 13 of 11,460 | 0.11% |
| 2022 | 6 of 8,285 | 0.07% | 24 of 13,598 | 0.18% |
| 2021 | 8 of 8,692 | 0.09% | 24 of 15,045 | 0.16% |
| 2020 | 6 of 7,640 | 0.08% | 24 of 14,459 | 0.17% |
| 2019 | 4 of 7,300 | 0.05% | 15 of 12,159 | 0.12% |
| 2018 | 3 of 6,927 | 0.04% | 12 of 11,854 | 0.10% |
| 2017 | 3 of 6,558 | 0.05% | 12 of 11,595 | 0.10% |
Showing 10 of 37 years.
Assay-provider ledger (21)
Shown in this order: most recent publication first.
| Company | Provider class | Validation | Papers | Most recent publication |
|---|---|---|---|---|
| University of Liverpool | Not a company | Clinical validationAnalytical validation | 1 | October 01, 2025 |
| MD Anderson (84-1 anti-vimentin antibody, MD Anderson) | Not a company | No clinical or analytical validation recorded for this pair | 1 | July 29, 2025 |
| Leica Microsystems | Reagent supplier | Clinical validation | 1 | May 01, 2024 |
| Santa Cruz Biotechnology | Reagent supplier | Clinical validationAnalytical validation | 2 | May 01, 2024 |
| Illumina | Unclassified | Clinical validationAnalytical validation | 3 | December 01, 2018 |
Showing 5 of 21 assay-provider companies.
Actionable biomarkers (8)
Shown in this order: fixed catalogue order, not ranked.
| Alteration | Drug | Response | Disease | Source |
|---|---|---|---|---|
| BAP1 deletion | Hdac Inhibitors | response-associated | cutaneous melanoma | Cancer Genome Interpreter |
| BAP1 oncogenic mutation | Hdac Inhibitors | response-associated | cutaneous melanoma | Cancer Genome Interpreter |
| BAP1 deletion | Ezh2 Inhibitors | response-associated | mesothelioma | Cancer Genome Interpreter |
| BAP1 oncogenic mutation | Ezh2 Inhibitors | response-associated | mesothelioma | Cancer Genome Interpreter |
| BAP1 oncogenic mutation | Parp Inhibitors | response-associated | renal carcinoma | Cancer Genome Interpreter |
Showing 5 of 8 actionable-biomarker assertions.
Trial mentions (46)
Shown in this order: fixed catalogue order, not by date.
| Trial | Source |
|---|---|
| NCT06863857 | Trial eligibility (AACT) |
| NCT04633902 | Trial eligibility (AACT) |
| NCT01773655 | Trial eligibility (AACT) |
| NCT05432232 | Trial eligibility (AACT) |
| NCT03209401 | Trial eligibility (AACT) |
Showing 5 of 46 trial mentions.
Target-disease associations (425)
Shown in this order: fixed catalogue order, not ranked.
| Disease | Therapeutic area | Source |
|---|---|---|
| 46,XY complete gonadal dysgenesis | cardiovascular disease | Mouse knockout (IMPC) |
| 46,XY sex reversal 6 | cardiovascular disease | Mouse knockout (IMPC) |
| ACTH-Producing Pituitary Gland Adenoma | cancer or benign tumor | Cancer Gene Census |
| APC-related attenuated familial adenomatous polyposis | cancer or benign tumor | Mouse knockout (IMPC) |
| Ampulla of Vater Carcinoma | cancer or benign tumor | Cancer Gene Census |
Showing 5 of 425 associations.
Vendor sourcing (174)
Shown in this order: alphabetical by organization.
| Organization | Role | Tier | Evidence | Citation |
|---|---|---|---|---|
| 3billion, Inc. (South Korea) | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | The variant is not observed in the gnomAD v4.1.0 dataset. Predicted Consequence/Location: Missense variant. The majority of the known disease-causing variant... | View ClinVar record SCV007607825.1 |
| ARUP Laboratories (United States) | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | The BAP1 c.1735G>A; p.Gly579Arg variant (rs370004702) is reported in the literature in an individual with endometrial carcinoma (Lu 2015, supplemental data 1... | View ClinVar record SCV001159711.2 |
| AbbVie Inc. | Trial collaborator | Named in trial inclusion criteriaTrial eligibility criteria | : * Patients must have a histologically documented (either primary or metastatic site) diagnosis of advanced solid tumor cancer (stage IV or unresectable) o... | View trial NCT03061188 |
| AbbVie Inc. | Trial collaborator | Mentioned in trial textTrial free-text mention | BAP1 | View trial NCT03061188 |
| Ambry Genetics (United States) | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | The c.659+3A>C intronic variant results from an A to C substitution 3 nucleotides after coding exon 8 in the BAP1 gene. This nucleotide position is well cons... | View ClinVar record SCV000622114.7 |
Showing 5 of 174 sourcing records.
Trial-cited literature (183)
Shown in this order: newest first, then most cited.
| Publication | Journal | Year | Citations |
|---|---|---|---|
| A neoantigen vaccine generates antitumour immunity in renal cell carcinoma. | Nature | 2025 | 151 |
| Pembrolizumab plus axitinib versus sunitinib for advanced clear cell renal cell carcinoma: 5-year survival and biomarker analyses of the phase 3 KEYNOTE-426 trial. | Nature medicine | 2025 | 44 |
| Phase II Study of Niraparib in Patients With Advanced Melanoma With Homologous Recombination Pathway Gene Mutations. | JCO precision oncology | 2025 | 9 |
| Prospective Analysis of Mesotheliomas in Subjects With BAP1 Cancer Syndrome: Clinical Characteristics and Epigenetic Correlates of Disease. | Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer | 2025 | 5 |
| Identification of new candidate genes for the hereditary predisposition to uveal melanoma: IGCMU trial. | Frontiers in oncology | 2025 | 0 |
Showing 5 of 183 papers.
Protein variant mentions (257)
Shown in this order: alphabetical by variant.
| Variant | Distinct papers | Year range | Sample papers |
|---|---|---|---|
| p.A130V | 1 | 2015 | PMID 25741868 |
| p.A134V | 1 | 2015 | PMID 25741868 |
| p.A243T | 1 | 2015 | PMID 25741868 |
| p.A303V | 1 | 2015 | PMID 25741868 |
| p.A304V | 1 | 2015 | PMID 25741868 |
Showing 5 of 257 variants.
Human sample screening reference (2)
Shown in this order: alphabetical by variant.
| Variant | GDC project | Disease / site | Affected cases | Profiled cases | Observed frequency | 95% interval |
|---|---|---|---|---|---|---|
| p.Q277* | TCGA-CESC | Adenomas and Adenocarcinomas; Cystic, Mucinous and Serous Neoplasms; Complex Epithelial Neoplasms; Squamous Cell Neoplasms; Ovary; Cervix uteri | 1 | 306 | 0.33% | 0.06% to 1.83% |
| p.R385* | CPTAC-3 | Not Applicable; Transitional Cell Papillomas and Carcinomas; Ductal and Lobular Neoplasms; Adenomas and Adenocarcinomas; Gliomas; Epithelial Neoplasms, NOS; Complex Epithelial Neoplasms; Complex Mixed and Stromal Neoplasms; Lipomatous Neoplasms; Squamous Cell Neoplasms; Myeloid Leukemias; Nevi and Melanomas; Stomach; Other and ill-defined sites in lip, oral cavity and pharynx; Unknown; Colon; Other and unspecified urinary organs; Floor of mouth; Other and unspecified parts of mouth; Gum; Bronchus and lung; Oropharynx; Other and unspecified parts of tongue; Base of tongue; Breast; Other and ill-defined sites; Larynx; Lip; Uterus, NOS; Hematopoietic and reticuloendothelial systems; Kidney; Brain; Skin; Pancreas; Tonsil | 2 | 1,815 | 0.11% | 0.03% to 0.40% |
Literature-extracted relations (66)
Shown in this order: chemicals, then diseases.
| Related entity | Kind | Source relation label | Paper | Year |
|---|---|---|---|---|
| Mesothelioma | Disease | associate |
Prospective Analysis of Mesotheliomas in Subjects With BAP1 Cancer Syndrome: Clinical Characteristics and Epigenetic Correlates of Disease. | 2025 |
| Neoplasms | Disease | associate |
Prospective Analysis of Mesotheliomas in Subjects With BAP1 Cancer Syndrome: Clinical Characteristics and Epigenetic Correlates of Disease. | 2025 |
| Carcinoma, Renal Cell | Disease | associate |
Pembrolizumab plus axitinib versus sunitinib for advanced clear cell renal cell carcinoma: 5-year survival and biomarker analyses of the phase 3 KEYNOTE-426 trial. | 2025 |
| Carcinoma, Renal Cell | Disease | associate |
A neoantigen vaccine generates antitumour immunity in renal cell carcinoma. | 2025 |
| Neoplasm Metastasis | Disease | associate |
GZ17-6.02 kills PDX isolates of uveal melanoma. | 2024 |
Showing 5 of 66 relation assertions.
Organizations publishing (265)
Shown in this order: most papers first.
| Organization | Type | Papers | Years |
|---|---|---|---|
| Memorial Sloan Kettering Cancer Center | Hospital | 23 | 2013 to 2024 |
| Government of the United States of America | Government | 14 | 2014 to 2025 |
| The University of Texas System | Academic | 14 | 2013 to 2024 |
| Harvard Medical School | Academic | 12 | 2016 to 2025 |
| Dana-Farber Cancer Institute | Other | 10 | 2016 to 2025 |
Showing 5 of 265 organizations.
Where BAP1 appears
- biological_process
- cancer or benign tumor
- cardiovascular disease
- endocrine system disease
- gastrointestinal disease
- genetic, familial or congenital disease
- immune system disease
- integumentary system disease
- measurement
- nervous system disease
- phenotype
- urinary system disease
332 diseases touched.
Not on this page
Checked, with nothing recorded for this biomarker: fda companion diagnostic assertions and fda biomarker qualification projects.