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.
Malignant Pleural Mesothelioma (MPM)
Primary Uveal Melanoma (UM)
Metastatic Uveal Melanoma (UM)
Renal Cell Carcinoma
Other: tumor specimens
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Clinical and Histopathologic Characteristics of BAP1 Mutations|
- determine the prevalence of germline BAP1 mutations [ Time Frame: 2 years ] [ Designated as safety issue: No ]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 ] [ Designated as safety issue: No ]
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
tissue specimens blood or saliva sample
|Study Start Date:||January 2013|
|Estimated Study Completion Date:||January 2015|
|Estimated Primary Completion Date:||January 2015 (Final data collection date for primary outcome measure)|
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01773655
|Contact: Marjorie Zauderer, MD||646-888-4656|
|Contact: David Abramson, M.D.||212-639-7232|
|United States, New York|
|Memorial Sloan Kettering Cancer Center||Recruiting|
|New York, New York, United States, 10065|
|Contact: Marjorie Zauderer, MD 646-888-4656|
|Contact: David Abramson, MD 212-639-7232|
|Principal Investigator: Marjorie Zauderer, MD|
|Principal Investigator:||Marjorie Zauderer, MD||Memorial Sloan Kettering Cancer Center.|