🌐 EnglishEN

AI Cure is a research tool showing open data. Not medical advice. Discuss with your doctor. Terms

← Trials
🧪

Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome

Recruitingn/aAges any - anyAllMohamed Abdel-Rahman
NCT04792463 on ClinicalTrials.gov ↗
💬

In plain words

What the trial is, and whether it could suit you

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 pe

Sign in to get the eligibility rules as simple questions to take to your doctor.

Sign in
📋 Eligibility rules (as published)
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
💊

What it tests

  • Not listed
📍

Where

1 site
The Ohio State University Wexner Medical Center
Columbus, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
🛡️

AI Cure shows public evidence (Open Targets, ClinicalTrials.gov, PubMed, openFDA, DepMap, AlphaFold) with its source, and AI summaries that cite it — not medical advice and not a cure. Treatment decisions belong with your doctor. Research ideas are shared only with approved researchers and labs, who can test them. In an emergency call your local emergency number (112 in India and Europe, 911 in the US). AI Cure Terms of Use · Privacy