Clinical trial · Observational
Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (8)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| BAP1 Gene Mutation | — | UNRESOLVED | — |
| Cholangiocarcinoma | Cholangiocarcinoma | ONTOLOGY_EXACT | 0.98 |
| Cutaneous Melanoma | Cutaneous Melanoma | ONTOLOGY_EXACT | 0.98 |
| Hepatocellular Carcinoma | Hepatocellular Carcinoma | ONTOLOGY_EXACT | 0.98 |
| Meningioma Atypical | — | UNRESOLVED | — |
| Mesothelioma | Malignant Mesothelioma | CURATED_EXACT | 0.92 |
| Renal Cell Carcinoma | Renal Cell Carcinoma | CURATED_BROADER | 0.80 |
| Uveal Melanoma | Uveal Melanoma | ONTOLOGY_EXACT |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (2)
- label
- Patients with personal and/or family history suggestive of hereditary BAP1
- description
- 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
- label
- Pathogenic, likely pathogenic variants in BAP1 and variants of uncertain significance
- description
- 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 outcomes (2)
- measure
- Prevalence of germline BAP1 variants in the unselected general population of cancer patients
- timeFrame
- 5 years
- description
- Frequency of germline BAP1 pathogenic/likely pathogenic variants in different cancers
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
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
References
Publications (1)
- DERIVEDGodwin K, McElroy J, Senter L, Byrne L, Abdel-Rahman MH. Patient-derived outcome assessment of knowledge, communication, and management in those diagnosed with BAP1-tumor predisposition syndrome. Fam Cancer. 2026 Mar 17;25(2):28. doi: 10.1007/s10689-026-00541-8. PMID 41843333