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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
Sponsor:
Collaborator:
United States Department of Defense
Information provided by (Responsible Party):
Memorial Sloan Kettering Cancer Center

Study Description
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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.

Condition or disease Intervention/treatment
Malignant Pleural Mesothelioma (MPM) Choroidal Nevus Primary Uveal Melanoma (UM) Metastatic Uveal Melanoma (UM) Renal Cell Carcinoma Cholangiocarcinoma Other: tumor specimens

Study Design
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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

Resource links provided by the National Library of Medicine


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


Outcome Measures
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Primary Outcome Measures :
  1. 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.


Secondary Outcome Measures :
  1. 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
tissue specimens blood or saliva sample

Eligibility Criteria
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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
Study Population
MSKCC's clinics
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:

  • none
Contacts and Locations
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Information from the National Library of Medicine

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


Locations
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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
Sponsors and Collaborators
Memorial Sloan Kettering Cancer Center
United States Department of Defense
Investigators
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Principal Investigator: Marjorie Zauderer, MD Memorial Sloan Kettering Cancer Center
  Study Documents (Full-Text)

Documents provided by Memorial Sloan Kettering Cancer Center:
Informed Consent Form  [PDF] May 31, 2016

More Information
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Additional Information:

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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
Keywords provided by Memorial Sloan Kettering Cancer Center:
somatic
germline
mutations
BAP1 (BRCA associated protein-1)
12-235
Additional relevant MeSH terms:
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Melanoma
Carcinoma, Renal Cell
Mesothelioma
Mesothelioma, Malignant
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
Lung Neoplasms
Respiratory Tract Neoplasms
Thoracic Neoplasms
Pleural Neoplasms
Lung Diseases
Respiratory Tract Diseases