Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome
1 other identifier
observational
500
1 country
1
Brief Summary
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Mar 2015
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
March 3, 2015
CompletedFirst Submitted
Initial submission to the registry
March 7, 2021
CompletedFirst Posted
Study publicly available on registry
March 11, 2021
CompletedPrimary Completion
Last participant's last visit for primary outcome
July 1, 2026
ExpectedStudy Completion
Last participant's last visit for all outcomes
July 1, 2026
March 9, 2026
March 1, 2026
11.3 years
March 7, 2021
March 5, 2026
Conditions
Outcome Measures
Primary Outcomes (2)
Prevalence of germline BAP1 variants in the unselected general population of cancer patients
Frequency of germline BAP1 pathogenic/likely pathogenic variants in different cancers
5 years
Clinical phenotypes (this includes premalignant lesions, tumor type and age of onset) in at risk blood-line family members of the patients
Questionnaire and chart review of the clinical phenotype
5 years
Secondary Outcomes (5)
Questionnaire to assess environmental risk factors modifying cancer risk in patients
10 years
Genotyping to assess genetic risk factors modifying risk of cancer
10 years
Disease outcome (response to treatment, prognosis including prognostic markers)
10 years
Tumor pathology and genomics (including tumor grade, stage, somatic genomic alterations)
10 years
Assessment of disease penetrance and life time risk estimate
10 years
Study Arms (2)
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
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
Eligibility Criteria
Providers at OSU will identify eligible participants through clinical practice. Providers at other institutions who become aware of our research through presentations at conferences, publications, etc. may identify one of their patients as eligible or potentially eligible for the study and introduce the study to their patient.
You may qualify if:
- Patients who meet any of the following criteria:
- 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.
- Any patient with personal history of at least 2 cancers reported in hereditary BAP1 cancer predisposition syndrome.
- Any subject (affected or unaffected) with a documented BAP1 pathogenic/ likely pathogenic variant.
- Any patient with a cancer reported in BAP1 and a germline variant of uncertain significance.
- At risk relatives of a patient with documented BAP1 mutation.
You may not qualify if:
- Study material including consent forms are currently only available in English so non-English speaking subjects are excluding
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
The Ohio State University Wexner Medical Center
Columbus, Ohio, 43210, United States
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Mohamed H Abdel-Rahman, MD, PhD
Ohio State University
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- FAMILY BASED
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR INVESTIGATOR
- PI Title
- Associate Professor
Study Record Dates
First Submitted
March 7, 2021
First Posted
March 11, 2021
Study Start
March 3, 2015
Primary Completion (Estimated)
July 1, 2026
Study Completion (Estimated)
July 1, 2026
Last Updated
March 9, 2026
Record last verified: 2026-03
Data Sharing
- IPD Sharing
- Will not share