Status:
RECRUITING
Long Term Follow-up of Mesothelioma Patients and Their Family Members With Germline Mutations in BAP1 and Other Genes
Lead Sponsor:
National Cancer Institute (NCI)
Conditions:
Mesothelioma
Families
Eligibility:
All Genders
2+ years
Brief Summary
Background: -A gene provides instructions to the body. Mutated genes can sometimes cause cancer. Germline mutations are those people are born with. These mutations in the BAP1 gene can cause mesothel...
Detailed Description
Background: * BRCA1-Associated Protein-1 (BAP1), a deubiquitinase involved in regulating DNA repair enzymes, is believed to be a prominent mutation in malignant mesothelioma * Germline mutations invo...
Eligibility Criteria
Inclusion
- Inclusion Criteria:
- Inclusion Criteria for Genetic Testing:
- Cohort 1:
- Participant with pathology confirming a diagnosis of mesothelioma.
- Participant must have a deleterious germline BAP1 mutation. Results from either research or clinical analyses are sufficient for this criterion.
- OR
- Participant with mesothelioma otherwise eligible for genetic testing in Cohort 2
- OR
- Participant must have deleterious germline mutation in another DNA repair/cancer predisposition gene(s) that is listed on a commercially available, cancer-associated common or customized gene panel. Results from either research or clinical analyses are sufficient for this criterion.
- Age greater than or equal to 2 years
- Cohort 2:
- Individual with a germline BAP1 mutation who does not have a history of mesothelioma (other cancers are allowed). Results from either research or clinical analyses are sufficient for this criterion.
- OR
- Individual with no history of mesothelioma with:
- -A biological first degree relative (living or deceased) with a history of mesothelioma
- OR
- -A first degree biological relative with a CLIA (or equivalent) confirmed germline mutation in BAP1
- OR
- -A second degree biological relative with a CLIA (or equivalent) confirmed germline mutation in BAP1 if relevant first degree relative is deceased or unavailable for testing,
- OR
- -A first degree biological relative with mesothelioma and a CLIA (or equivalent) confirmed germline mutation in another DNA-repair/cancer predisposition gene that is listed on a commercially available, cancer-associated common or customized gene panel
- OR
- A second degree biological relative with mesothelioma and a CLIA (or equivalent) confirmed germline mutation in BAP1
- Age:
- greater than or equal to 2 years for participants with a BAP1 or TP53 mutation or with a first degree relative that has a germline mutation in TP53 or BAP1
- greater than or equal to 16 years for all other eligible potential mutations
- All participants must understand and be willing to sign a written informed consent
- Exclusion Criteria for Genetic Testing
- None
- Inclusion Criteria for Surveillance:
- Genetic testing criteria including age restrictions for respective cohorts must be met
- Participants in Cohort 1 may be enrolled with positive results for germline BAP1 mutation or another DNA repair/cancer predisposition gene(s) that is listed on a commercially available, cancer-associated common or customized gene panel regardless of CLIA (or equivalent) confirmation
- Participants in Cohort 2 must have CLIA (or equivalent) confirmed germline BAP1 mutation or another DNA repair/cancer predisposition gene(s) that is listed on a commercially available, cancer-associated common or customized gene panel
- OR
- if germline status negative, have a biological relative that is enrolled for surveillance
- Exclusion Criteria for Surveillance:
- None
Exclusion
Key Trial Info
Start Date :
March 13 2019
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
July 5 2027
Estimated Enrollment :
1000 Patients enrolled
Trial Details
Trial ID
NCT03830229
Start Date
March 13 2019
End Date
July 5 2027
Last Update
December 19 2025
Active Locations (1)
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1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892