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NCT Number: NCT01773655

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.

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Key information

Conditions

Malignant Pleural Mesothelioma (MPM) Adenocarcinoma Adenoma Carcinoma Carcinoma, Renal Cell Cholangiocarcinoma Choroidal Nevus Eye Diseases Eye Neoplasms Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Kidney Diseases Kidney Neoplasms Lung Diseases Lung Neoplasms Male Urogenital Diseases Melanoma Mesothelioma Mesothelioma, Malignant Metastatic Uveal Melanoma (UM) Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Germ Cell and Embryonal Neoplasms, Glandular and Epithelial Neoplasms, Mesothelial Neoplasms, Nerve Tissue Neuroectodermal Tumors Neuroendocrine Tumors Nevi and Melanomas Pleural Neoplasms Primary Uveal Melanoma (UM) Renal Cell Carcinoma Respiratory Tract Diseases Respiratory Tract Neoplasms Thoracic Neoplasms Urogenital Diseases Urogenital Neoplasms Urologic Diseases Urologic Neoplasms Uveal Diseases Uveal Melanoma Uveal Neoplasms

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Memorial Sloan Kettering Westchester, Harrison, New York, United States

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

tumor specimens

Other

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.

Primary outcomes

  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 outcomes

  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)

Sponsors and collaborators

Lead sponsor

Memorial Sloan Kettering Cancer Center

Other

Collaborators

  • United States Department of Defense

Registry information

Important dates

Study start
2013
Primary completion
2020
Study completion
2020
First posted
Jan 23, 2013
Registry last updated
Jul 1, 2020

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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