Clinical and Histopathologic Characteristics of BAP1 Mutations
Completed
Conditions studied: Malignant Pleural Mesothelioma (MPM), Choroidal Nevus, Primary Uveal Melanoma (UM), Metastatic Uveal Melanoma (UM), Renal Cell Carcinoma, Cholangiocarcinoma
In brief
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.
Key facts
- Study ID
- NCT01773655
- Run by
- Memorial Sloan Kettering Cancer Center
- People needed
- 196
- Starts
- 2013-01-01
- Expected to finish
- 2020-06-30
- Last updated by the study team
- 2020-07-01
Who can join
Age: 18 and older. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- 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
You may not qualify if…
- none
Where it is running
- Memorial Sloan Kettering Westchester — Harrison, New York, United States
- Memorial Sloan Kettering Cancer Center — New York, New York, United States
Full record on ClinicalTrials.gov
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