Clinical and Histopathologic Characteristics of BAP1 Mutations

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: