Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome
This is not medical advice. AI-assisted translation — inaccuracies may occur. Always verify the original and consult your oncologist before taking any steps.
About the trial
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.
Original English text from ClinicalTrials.gov
Who can (and can't) join
✓ Qualifies
- •Osoba, która miała jeden nowotwór związany z zespołem BAP1, a w rodzinie co najmniej 2 krewnych 1. lub 2. stopnia miało raka związanego z BAP1
- •Osoba, która miała co najmniej 2 nowotory związane z zespołem BAP1
- •Osoba z potwierdzonym zmutowanym genem BAP1
- •Osoba z nowotworem związanym z BAP1 i zmianą genu nieznanego znaczenia
- •Krewny osoby z potwierdzonym zmutowanym genem BAP1 (nawet jeśli nie choruje)
✗ Disqualifies
- •Osoby mówiące wyłącznie po nieangielsku (materiały badania dostępne tylko w języku angielskim)
Simplified criteria — AI translation
Trial details
- Last updated (source)
- October 16, 2026
- Sex
- No restrictions
Locations (1)
The Ohio State University Wexner Medical Center
Columbus, United States
Trial contact
Mohamed H Abdel-Rahman, MD, PhD
Contact information from ClinicalTrials.gov. Contact in English.
Share this trial
Data from ClinicalTrials.gov. AI-assisted translation, last sync: 10/17/2026.
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