Clinical and Histopathologic Characteristics of BAP1 Mutations

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01773655

Enrollment

196

Registered

2013-01-23

Start date

2013-01-31

Completion date

2020-06-30

Last updated

2020-07-01

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

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

Keywords

somatic, germline, mutations, BAP1 (BRCA associated protein-1), 12-235

Brief 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.

Interventions

OTHERtumor 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.

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
determine the prevalence of germline BAP1 mutations	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.

Secondary

Measure	Time frame	Description
prevalence of somatic BAP1 mutations in disease mesothelioma and metastatic uveal melanoma.	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)

Countries

United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Mar 8, 2026