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Clinical and Histopathologic Characteristics of BAP1 Mutations

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ClinicalTrials.gov Identifier: NCT01773655
Recruitment Status : Active, not recruiting
First Posted : January 23, 2013
Last Update Posted : November 12, 2018
Sponsor:
Collaborator:
United States Department of Defense
Information provided by (Responsible Party):
Memorial Sloan Kettering Cancer Center

January 18, 2013
January 23, 2013
November 12, 2018
January 2013
January 2019   (Final data collection date for primary outcome measure)
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.
Same as current
Complete list of historical versions of study NCT01773655 on ClinicalTrials.gov Archive Site
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)
prevalence of somatic BAP1 mutations in disease MPM 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 (MPM), personal and family history of cancer or of related diseases (MPM and metastatic uveal melanoma)
  • disease characteristics: histology, stage, location, site of metastasis (if present) (for MPM and metastatic uveal melanoma); COMS criteria, GEP class, number of clinical risk factors (for metastatic uveal melanoma)
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Not Provided
 
Clinical and Histopathologic Characteristics of BAP1 Mutations
Clinical and Histopathologic Characteristics of BAP1 Mutations
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.
Not Provided
Observational
Observational Model: Cohort
Time Perspective: Prospective
Not Provided
Retention:   Samples With DNA
Description:
tissue specimens blood or saliva sample
Non-Probability Sample
MSKCC's clinics
  • Malignant Pleural Mesothelioma (MPM)
  • Choroidal Nevus
  • Primary Uveal Melanoma (UM)
  • Metastatic Uveal Melanoma (UM)
  • Renal Cell Carcinoma
  • Cholangiocarcinoma
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.

tissue
This is a protocol to obtain and/or analyze tumor and germline DNA specimens of patients with MPM, choroidal nevus, and UM.
Intervention: Other: tumor specimens
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Active, not recruiting
196
460
January 2019
January 2019   (Final data collection date for primary outcome measure)

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:

Sexes Eligible for Study: All
18 Years and older   (Adult, Older Adult)
No
Contact information is only displayed when the study is recruiting subjects
United States
 
 
NCT01773655
12-235
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Not Provided
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Memorial Sloan Kettering Cancer Center
Memorial Sloan Kettering Cancer Center
United States Department of Defense
Principal Investigator: Marjorie Zauderer, MD Memorial Sloan Kettering Cancer Center
Memorial Sloan Kettering Cancer Center
November 2018