Clinical trial · Observational
Clinical and Histopathologic Characteristics of BAP1 Mutations
NCT01773655CI-TRIAL-00045754completedClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
The goal of this protocol is to determine the prevalence of somatic and germline mutations in BAP1 (BRCA associated protein-1) among patients with mesothelioma , choroidal nevus, primary uveal melanoma (UM), or metastatic UM seen at our institution.
Conditions
Conditions (6)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Cholangiocarcinoma | Cholangiocarcinoma | ONTOLOGY_EXACT | 0.98 |
| Choroidal Nevus | — | UNRESOLVED | — |
| Malignant Pleural Mesothelioma (MPM) | Pleural Malignant Mesothelioma | ALIAS | 0.85 |
| Metastatic Uveal Melanoma (UM) | Uveal Melanoma | CURATED_BROADER | 0.78 |
| Primary Uveal Melanoma (UM) | Malignant Mesothelioma | PROBABILISTIC | 0.70 |
| Renal Cell Carcinoma | Renal Cell Carcinoma | CURATED_BROADER | 0.80 |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| tumor specimens | Other | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- label
- tissue
- description
- This is a protocol to obtain and/or analyze tumor and germline DNA specimens of patients with MPM, choroidal nevus, and UM.
- interventionNames
- Other: tumor specimens
Primary outcomes (1)
- measure
- determine the prevalence of germline BAP1 mutations
- timeFrame
- 2 years
- description
- Prevalence will be estimated as the proportion of all specimens who tested positive for mutation, and reported along with the corresponding exact 95% confidence intervals.
Secondary outcomes (1)
- measure
- prevalence of somatic BAP1 mutations in disease mesothelioma and metastatic uveal melanoma.
- timeFrame
- 2 years
- description
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
Show eligibility criteria text
Inclusion Criteria: All consents: * \> or = to 18 years of age * Ability to provide informed consent Consent 1: Mesothelioma * Histologically proven diagnosis of Mesothelioma OR Choroidal nevus * Diagnosis of choroidal nevus by direct examination and/or ultrasound/optical coherence tomography and possibly fluorescein angiography OR Primary uveal melanoma * Diagnosis of uveal melanoma by direct examination and/or ultrasound/optical coherence tomography and possibly fluorescein angiography Consent 2: Mesothelioma * Histologically proven diagnosis of Mesothelioma AND * BAP1 mutation or loss of expression identified in tumor sample OR one of the following: * Age\<50 at diagnosis * No history of asbestos exposure * Personal history of choroidal nevus, uveal melanoma, melanoma, renal cell carcinoma, or cholangiocarcinoma * Family history of choroidal nevus, uveal melanoma, mesothelioma, renal cell carcinoma, or cholangiocarcinoma * History of malignancy in more than two first-degree relatives OR Choroidal nevus * Diagnosis of choroidal nevus by direct examination and/or ultrasound/optical coherence tomography and possibly fluorescein angiography AND one of the following: * More than one clinical risk factor, which may include: orange pigment, thickness \> 1 \< 2.5mm * Personal history of uveal melanoma, skin melanoma, mesothelioma renal cell carcinoma, or cholangiocarcinoma * Family history of choroidal nevus, uveal melanoma, mesothelioma renal cell carcinoma, or cholangiocarcinoma OR Primary uveal melanoma * Diagnosis of uveal melanoma by direct examination and/or ultrasound/optical coherence tomography and possibly fluorescein angiography AND one of the following: * Personal history of uveal melanoma, skin melanoma, mesothelioma, renal cell carcinoma, or cholangiocarcinoma * Family history of choroidal nevus, uveal melanoma, mesothelioma, renal cell carcinoma, or cholangiocarcinoma * History of malignancy in more than two first-degree relatives OR Metastatic uveal melanoma * Histologically proven diagnosis of metastatic uveal melanoma AND * BAP1 mutation or loss of expression identified in tumor sample OR one of the following: * Personal history of uveal melanoma, skin melanoma, mesothelioma renal cell carcinoma, or cholangiocarcinoma * Family history of choroidal nevus, uveal melanoma, mesothelioma renal cell carcinoma, or cholangiocarcinoma * History of malignancy in more than two first-degree relatives Consent 3: * Relative of patient with germline BAP1 mutation identified through identified testing Exclusion Criteria: * none
References
Publications (0)
Data not yet available
No reference posted for this study.