Clinical and Histopathologic Characteristics of BAP1 Mutations
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ClinicalTrials.gov Identifier: NCT01773655 |
Recruitment Status :
Completed
First Posted : January 23, 2013
Last Update Posted : July 1, 2020
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Condition or disease | Intervention/treatment |
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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 |
Observational Model: | Cohort |
Time Perspective: | Prospective |
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 |

Group/Cohort | Intervention/treatment |
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tissue
This is a protocol to obtain and/or analyze tumor and germline DNA specimens of patients with MPM, choroidal nevus, and UM.
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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

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Ages Eligible for Study: | 18 Years and older (Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
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 |
Documents provided by Memorial Sloan Kettering Cancer Center:
Responsible Party: | Memorial Sloan Kettering Cancer Center |
ClinicalTrials.gov Identifier: | NCT01773655 |
Other Study ID Numbers: |
12-235 |
First Posted: | January 23, 2013 Key Record Dates |
Last Update Posted: | July 1, 2020 |
Last Verified: | June 2020 |
somatic germline mutations BAP1 (BRCA associated protein-1) 12-235 |
Melanoma Carcinoma, Renal Cell Mesothelioma Cholangiocarcinoma Uveal Neoplasms Neuroendocrine Tumors Neuroectodermal Tumors Neoplasms, Germ Cell and Embryonal Neoplasms by Histologic Type Neoplasms Neoplasms, Nerve Tissue Nevi and Melanomas Adenocarcinoma |
Carcinoma Neoplasms, Glandular and Epithelial Kidney Neoplasms Urologic Neoplasms Urogenital Neoplasms Neoplasms by Site Kidney Diseases Urologic Diseases Adenoma Neoplasms, Mesothelial Eye Neoplasms Eye Diseases Uveal Diseases |