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Clinical and Histopathologic Characteristics of BAP1 Mutations


N/A
18 Years
N/A
Open (Enrolling)
Both
Malignant Pleural Mesothelioma (MPM), Choroidal Nevus, Primary Uveal Melanoma (UM), Metastatic Uveal Melanoma (UM)

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Trial Information

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, or melanoma

- Family history of choroidal nevus, uveal melanoma, or mesothelioma

- 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, or mesothelioma

- Family history of choroidal nevus, uveal melanoma, or mesothelioma 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, or mesothelioma

- Family history of choroidal nevus, uveal melanoma, or mesothelioma

- 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, or mesothelioma

- Family history of choroidal nevus, uveal melanoma, or mesothelioma

- 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

Type of Study:

Observational

Study Design:

Observational Model: Cohort, Time Perspective: Prospective

Outcome Measure:

determine the prevalence of germline BAP1 mutations

Outcome Description:

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.

Outcome Time Frame:

2 years

Safety Issue:

No

Principal Investigator

Marjorie Zauderer, MD

Investigator Role:

Principal Investigator

Investigator Affiliation:

Memorial Sloan-Kettering Cancer Center

Authority:

United States: Institutional Review Board

Study ID:

12-235

NCT ID:

NCT01773655

Start Date:

January 2013

Completion Date:

January 2015

Related Keywords:

  • Malignant Pleural Mesothelioma (MPM)
  • Choroidal Nevus
  • Primary Uveal Melanoma (UM)
  • Metastatic Uveal Melanoma (UM)
  • somatic
  • germline
  • mutations
  • BAP1 (BRCA associated protein-1)
  • 12-235
  • Melanoma
  • Mesothelioma
  • Uveal Neoplasms

Name

Location

Memorial Sloan Kettering Cancer CenterNew York, New York  10021