Clinical and Histopathologic Characteristics of BAP1 Mutations
|ClinicalTrials.gov Identifier: NCT01773655|
Recruitment Status : Completed
First Posted : January 23, 2013
Last Update Posted : July 1, 2020
|Condition or disease||Intervention/treatment|
|Malignant Pleural Mesothelioma (MPM) Choroidal Nevus Primary Uveal Melanoma (UM) Metastatic Uveal Melanoma (UM) Renal Cell Carcinoma Cholangiocarcinoma||Other: tumor specimens|
|Study Type :||Observational|
|Actual Enrollment :||196 participants|
|Official Title:||Clinical and Histopathologic Characteristics of BAP1 Mutations|
|Study Start Date :||January 2013|
|Actual Primary Completion Date :||June 30, 2020|
|Actual Study Completion Date :||June 30, 2020|
This is a protocol to obtain and/or analyze tumor and germline DNA specimens of patients with MPM, choroidal nevus, and UM.
Other: tumor specimens
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.
- 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.
- 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:
- personal and familial risk factors: age, smoking, and asbestos mesothelioma, personal and family history of cancer or of related diseases (mesothelioma and metastatic uveal melanoma)
- disease characteristics: histology, stage, location, site of metastasis (if present) (for mesothelioma and metastatic uveal melanoma); COMS criteria, GEP class, number of clinical risk factors (for metastatic uveal melanoma)
Biospecimen Retention: Samples With DNA
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01773655
|United States, New York|
|Memorial Sloan Kettering Westchester|
|Harrison, New York, United States, 10604|
|Memorial Sloan Kettering Cancer Center|
|New York, New York, United States, 10065|
|Principal Investigator:||Marjorie Zauderer, MD||Memorial Sloan Kettering Cancer Center|