Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Total Enrollment

500 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-03-03

Study Completion Date

2026-07-01

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

This research will have a significant impact on the overall management of those cancer patients and their family members who are at risk for hereditary cancer due to germline inactivation of BAP1. Our study will ultimately facilitate the development of novel screening, prevention and treatment strategies for these individuals with the syndrome. Because the vast majority of UM develop in pre-existing nevi, characterization of individuals at high risk for development of UM will allow closer screening and earlier intervention which would improve the treatment outcome not only for retaining vision but also for overall survival. Similarly in patients with germline BAP1 mutation CM develops in premalignant atypical melanocytic lesions and careful follow up of these patients will improve the outcome of their disease. In addition this study could have impact on the management of patients with personal and/or family history of several other cancers reported in patients with germline BAP1 mutation such as mesothelioma, renal cell carcinoma, cholangiocarcinoma, hepatocellular carcinoma, meningioma and basal cell carcinoma.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Prospective Evaluation of High Resolution Dual Energy Computed Tomographic Imaging, Noninvasive (Liquid) Biopsies, and Minimally Invasive Surgical Surveillance for Early Detection of Mesotheliomas in Patients With BAP1 Tumor Predisposition Syndrome

NCT04431024

Familial Cancer BRCA1-Associated Protein-1 (BAP1) Mutations Tumor Predisposition Syndrome (TPDS) +1 more

RECRUITING

Clinical and Histopathologic Characteristics of BAP1 Mutations

NCT01773655

Malignant Pleural Mesothelioma (MPM) Choroidal Nevus Primary Uveal Melanoma (UM) +3 more

COMPLETED

Long Term Follow-up of Mesothelioma Patients and Their Family Members With Germline Mutations in BAP1 and Other Genes

NCT03830229

Mesothelioma Families

RECRUITING

BAP1 Testing in Instance Choroidal Nevi or Uveal Melanoma

NCT01925599

Choroidal Nevi, Uveal Melanoma

UNKNOWN

Identifying Gene Mutations in Patients With Melanoma and in Families With a History of Hereditary Melanoma

NCT00450593

Hereditary Multiple Melanoma Melanoma (Skin)

UNKNOWN

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

BAP1 (BRCA1-associated protein-1), is a deubiquitinating enzyme with a ubiquitin carboxy-terminal hydrolase function that has been suggested to be a tumor suppressor gene with a role in cell proliferation and growth inhibition. Recently germline mutations in BAP1 have been identified by our group and others in families with hereditary cancers. However, the clinical spectrum of cancers in patients with germline BAP1 is still not clear. The association of germline BAP1 mutations with increased risks for uveal melanoma (UM), mesothelioma, cutaneous melanoma (CM), renal cell carcinoma (RCC) and BAP1-inactivated melanocytic tumors is fairly well established. However, several other cancers have been reported in these patients and their family members including cholangiocarcinoma, hepatocellular carcinoma, meningioma, basal cell carcinoma and other internal malignancies. Identification of the clinical phenotype of BAP1-TPDS is important for proper counseling and management of patients.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Uveal Melanoma Cutaneous Melanoma BAP1 Gene Mutation Renal Cell Carcinoma Mesothelioma Hepatocellular Carcinoma Cholangiocarcinoma Meningioma Atypical

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Patients with personal and/or family history suggestive of hereditary BAP1

Personal history of one cancer reported in BAP1 cancer predisposition syndrome and family history of at least two 1st or 2nd degree relatives with cancer reported in hereditary BAP1 cancer predisposition syndrome such as UM, CM, mesothelioma, RCC, cholangiocarcinoma, hepatocellular carcinoma and meningioma

No interventions assigned to this group

Pathogenic, likely pathogenic variants in BAP1 and variants of uncertain significance

Affected and unaffected individuals with pathogenic or likely pathogenic variant in BAP1 and their family members

Patients with personal family history of any of the BAP1 associated cancer and a variant of uncertain significance of BAP1

No interventions assigned to this group

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

Patients who meet any of the following criteria:

1. Personal history of one cancer reported in BAP1 cancer predisposition syndrome and family history of at least two 1st or 2nd degree relatives with cancer reported in hereditary BAP1 cancer predisposition syndrome such as UM, CM, mesothelioma, RCC, cholangiocarcinoma, meningioma and hepatocellular carcinoma.
2. Any patient with personal history of at least 2 cancers reported in hereditary BAP1 cancer predisposition syndrome.
3. Any subject (affected or unaffected) with a documented BAP1 pathogenic/ likely pathogenic variant.
4. Any patient with a cancer reported in BAP1 and a germline variant of uncertain significance.
5. At risk relatives of a patient with documented BAP1 mutation.