Understanding BAP1 Hereditary Cancer Risks

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to characterize the frequency and clinical phenotypes associated with BAP1 hereditary predisposition syndrome, which is linked to various cancers including uveal melanoma and mesothelioma. By identifying individuals at high risk due to germline BAP1 mutations, the study seeks to enhance screening, prevention, and treatment strategies for these patients and their families. The research will involve patients with personal or family histories of specific cancers related to BAP1 mutations, allowing for closer monitoring and earlier interventions to improve outcomes.

Why it matters

Who can join: the full rules

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.

Exclusion Criteria:

* Study material including consent forms are currently only available in English so non-English speaking subjects are excluding

Where it's running

• The Ohio State University Wexner Medical Center
  Columbus, Ohio, United States Recruiting

Study contacts

• Principal investigator: Mohamed H Abdel-Rahman, MD, PhD — Ohio State University
• Study coordinator: Mohamed H Abdel-Rahman, MD, PhD
• Email: Mohamed.Abdel-Rahman@osumc.edu
• Phone: 614-292-1396

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.