Clinical and Histopathologic Characteristics of BAP1 Mutations
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.
Checked against the public recordLast updated Jul 1, 2020 · Source: ClinicalTrials.gov
What this study is about
- Purpose
- Not specified
- Study type
- Observational
- Phase
- Not applicable
- Sponsor
- Memorial Sloan Kettering Cancer Center
- Interventions being studied
- Other: tumor specimens
How this study is categorized
These labels come from structured fields and exact terms in the public record.
Who may be able to participate
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
Important: This is the sponsor’s public criteria, not a determination of eligibility. The study team must review your individual situation.
U.S. locations
- Memorial Sloan Kettering WestchesterHarrison, New York
- Memorial Sloan Kettering Cancer CenterNew York, New York
Source and freshness
Processed from ClinicalTrials.gov. Last public update: Jul 1, 2020. Always confirm current availability with the study team.