- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT01773655
Clinical and Histopathologic Characteristics of BAP1 Mutations
Study Overview
Status
Conditions
Intervention / Treatment
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
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New York
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Harrison, New York, United States, 10604
- Memorial Sloan Kettering Westchester
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New York, New York, United States, 10065
- Memorial Sloan Kettering Cancer Center
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-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
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
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
tissue
This is a protocol to obtain and/or analyze tumor and germline DNA specimens of patients with MPM, choroidal nevus, and UM.
|
All consenting patients (Consent 1) will participate in an anonymized assessment of the prevalence of germline BAP1 mutations. Available tumor specimens from patients with MPM and metastatic uveal melanoma will be tested for BAP1 mutation. Patients whose tumors harbor BAP1 mutations and/or meet the criteria for germline mutation specified in 2.2.2 will be approached for identified germline BAP1 testing after appropriate pre-test counseling (Consent 2). Patients who, through identified testing, are found to have germline BAP1 mutations will be asked to invite their relatives to participate in germline testing (Consent 3). First-degree relatives and any relatives with a malignancy will be prioritized. Expanding testing to family members of patients with BAP1 germline mutations is essential to delineate the penetrance and describe the various manifestations of this new cancer predisposition syndrome. |
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
determine the prevalence of germline BAP1 mutations
Time Frame: 2 years
|
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.
|
2 years
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
prevalence of somatic BAP1 mutations in disease mesothelioma and metastatic uveal melanoma.
Time Frame: 2 years
|
The frequency of somatic mutations will be tabulated by factors of interest such as:
|
2 years
|
Collaborators and Investigators
Collaborators
Investigators
- Principal Investigator: Marjorie Zauderer, MD, Memorial Sloan Kettering Cancer Center
Publications and helpful links
Helpful Links
Study record dates
Study Major Dates
Study Start
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Respiratory Tract Diseases
- Neoplasms by Histologic Type
- Neoplasms
- Lung Diseases
- Urologic Neoplasms
- Urogenital Neoplasms
- Neoplasms by Site
- Kidney Diseases
- Urologic Diseases
- Adenocarcinoma
- Carcinoma
- Neoplasms, Glandular and Epithelial
- Eye Diseases
- Respiratory Tract Neoplasms
- Thoracic Neoplasms
- Neuroectodermal Tumors
- Neoplasms, Germ Cell and Embryonal
- Neoplasms, Nerve Tissue
- Kidney Neoplasms
- Uveal Diseases
- Lung Neoplasms
- Neuroendocrine Tumors
- Nevi and Melanomas
- Adenoma
- Eye Neoplasms
- Neoplasms, Mesothelial
- Pleural Neoplasms
- Carcinoma, Renal Cell
- Melanoma
- Cholangiocarcinoma
- Mesothelioma
- Mesothelioma, Malignant
- Uveal Neoplasms
Other Study ID Numbers
- 12-235
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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