NCT01773655

Clinical and Histopathologic Characteristics of BAP1 Mutations

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 196 (actual)
• Sponsor: Memorial Sloan Kettering Cancer Center · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

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.

Conditions

• Malignant Pleural Mesothelioma (MPM)
• Choroidal Nevus
• Primary Uveal Melanoma (UM)
• Metastatic Uveal Melanoma (UM)
• Renal Cell Carcinoma
• Cholangiocarcinoma

Interventions

Type	Name	Description
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.

Timeline

• Start date: 2013-01-01
• Primary completion: 2020-06-30
• Completion: 2020-06-30
• First posted: 2013-01-23
• Last updated: 2020-07-01

Locations

2 sites across 1 country: United States