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.
Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome
At a glance
Conditions
Where it's being run
1 sites across 1 statesStudy leadership
- Mohamed H Abdel-Rahman, MD, PhD · PRINCIPAL_INVESTIGATOR · Ohio State University
Who to contact
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Do you actually qualify for this trial?
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Exclusion
What this trial measures
- 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