Mesothelioma.com Resources for Patients and their Families

Clinical and Histopathologic Characteristics of BAP1 Mutations

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.

Tracking Information
First Received DateJanuary 18, 2013
Last Changed DateJanuary 27, 2017
Start DateJanuary 2013
Anticipated Primary Completion DateJanuary 2018
Primary Outcome Measures

determine the prevalence of germline BAP1 mutations [Time Frame: 2 years]

Secondary Outcome Measures

prevalence of somatic BAP1 mutations in disease mesothelioma and metastatic uveal melanoma. [Time Frame: 2 years]

Descriptive Information
PhaseN/A
Study TypeObservational
Condition
  • Malignant Pleural Mesothelioma (MPM)
  • Choroidal Nevus
  • Primary Uveal Melanoma (UM)
  • Metastatic Uveal Melanoma (UM)
  • Renal Cell Carcinoma
  • Cholangiocarcinoma
Intervention
  • Other: tumor specimens
Study Arms / Comparison Groups0 / 1
Recruitment Information
Recruitment StatusRecruiting
Anticipated Enrollment460
GenderAll
Ages18 Years - N/A
Accepts Healthy VolunteersNo
Contact Marjorie Zauderer, MD
Phone: 646-888-4656
Eligibility Criteria

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:

Administrative Information
NCTIDNCT01773655
Responsible Party,
SponsorMemorial Sloan Kettering Cancer Center
Verification DateJanuary 2017
Mesothelioma Doctors by State
  • Breaking News
  • Emerging Clinical Trials
  • Delivered within 24 hrs

Yes   No

Mesothelioma Cancer Alliance Blog

FEATURED CONTENT:


RECENT POSTS:

Remembering Mesothelioma Victims in the UK

The Challenges of Research in Immunotherapy

The Importance of Cancer Research in Immunotherapy

Mesothelioma Treatment Guide

Free Mesothelioma Treatment Guide

Please fill in the form below to request our FREE Mesothelioma Treatment Guide. It will be sent to you within 24 hours.

Have you or someone you know been diagnosed with mesothelioma?

Get Access To: