Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome

Part of paid clinical trials in Columbus, Ohio.

Sponsor
Mohamed Abdel-Rahman
Study ID
NCT04792463
Status
Recruiting
Apply to this trial

Conditions

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Accepted

Study Details

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.

Key Dates

Start date
Mar 3, 2015
Status verified
Mar 2026
Primary completion
Jul 1, 2026
Completion
Jul 1, 2026

Study Design

Enrollment
500 participants (estimated)

Arms

  • Arm: Patients with personal and/or family history suggestive of hereditary BAP1
    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, hepatocellular carcinoma and meningioma
  • Arm: Pathogenic, likely pathogenic variants in BAP1 and variants of uncertain significance
    Affected and unaffected individuals with pathogenic or likely pathogenic variant in BAP1 and their family members Patients with personal family history of any of the BAP1 associated cancer and a variant of uncertain significance of BAP1

Primary Outcome Measure

Prevalence of germline BAP1 variants in the unselected general population of cancer patients [ Time Frame: 5 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
The Ohio State University Wexner Medical CenterColumbusOhio43210
Mohamed H Abdel-Rahman, MD, PhD
[email protected]
614-292-1396
Lindsey Byrne, MS, CGC
[email protected]
614-293-3159

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