Understanding BAP1 Hereditary Predisposition Syndrome

This study is looking at how often a specific gene change, called a BAP1 gene mutation, appears in cancer patients and what types of cancers are linked to it. Researchers want to understand the full range of cancers (clinical phenotypes) that occur in people with this inherited condition, including uveal melanoma (a type of eye cancer), cutaneous melanoma (skin cancer), kidney cancer (renal cell carcinoma), and mesothelioma (a cancer affecting the lining of organs). This research doesn't involve any specific treatments or interventions. You might be able to join if you have a personal history of a BAP1-related cancer and a family history of at least two close relatives with similar cancers. The goal is to better understand this syndrome to help develop new ways to screen for, prevent, and treat these cancers in the future.

Study design
This is an observational study, meaning researchers will gather information without giving any specific treatments. It aims to include 500 participants.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Researchers will measure the prevalence of BAP1 variants and clinical phenotypes in family members over 5 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT04792463

Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome

Recruiting
Not specifiedAll AgesObservational
Mohamed Abdel-Rahman
~500 participants
Updated 2026-03-09 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Prevalence of germline BAP1 variants in the unselected general population of cancer patients
Measured over 5 years
+1 more outcome measured
Uveal Melanoma
Cutaneous Melanoma
BAP1 Gene Mutation
Renal Cell Carcinoma
Mesothelioma
Hepatocellular Carcinoma
Cholangiocarcinoma
Meningioma Atypical
1 sites across 1 states
Ohio1
  • Mohamed H Abdel-Rahman, MD, PhD · PRINCIPAL_INVESTIGATOR · Ohio State University

Opens a ready-to-send draft in your own email app — review before sending.

Do you actually qualify for this trial?

Add a private profile and we'll compare every criterion below against your situation — and tell you which ones are met, uncertain, or excluding.

Check eligibility for this trial ~2 min · HIPAA-protected · delete anytime
Eligibility criteria

Exclusion

Study material including consent forms are currently only available in English so non-English speaking subjects are excluding
  • Prevalence of germline BAP1 variants in the unselected general population of cancer patients5 years

    Frequency of germline BAP1 pathogenic/likely pathogenic variants in different cancers

  • Clinical phenotypes (this includes premalignant lesions, tumor type and age of onset) in at risk blood-line family members of the patients5 years

    Questionnaire and chart review of the clinical phenotype