Understanding BAP1 Hereditary Cancer Risks

Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome

This study is trying to find out how common certain cancers are in people with BAP1 gene mutations to help improve screening and treatment for them and their families.

Quick facts

• Study type: Observational
• Enrollment: 500 (estimated)
• Sex: All
• Sponsor: Ohio State University (other)
• Locations: 1 site (Columbus, Ohio)
• Trial ID: NCT04792463 on ClinicalTrials.gov

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.

Who should consider this trial

Good fit: Ideal candidates include individuals with a personal or family history of cancers associated with BAP1 mutations, such as uveal melanoma or mesothelioma.

Not a fit: Patients who do not have a personal or family history of cancers related to BAP1 mutations may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved screening and treatment strategies for patients at risk of hereditary cancers linked to BAP1 mutations.

How similar studies have performed: While the association of BAP1 mutations with certain cancers is established, this specific characterization of the clinical phenotype is novel and may provide new insights.

Eligibility criteria

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 this trial is running

Columbus, Ohio

• 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

Conditions: Uveal Melanoma, Cutaneous Melanoma, BAP1 Gene Mutation, Renal Cell Carcinoma, Mesothelioma, Hepatocellular Carcinoma, Cholangiocarcinoma, Meningioma Atypical