Long Term Follow-up of Mesothelioma Patients and Their Family Members With Germline Mutations in BAP1 and Other Genes

Launched by NATIONAL CANCER INSTITUTE (NCI) · Feb 2, 2019

Keywords

ClinConnect Summary

This clinical trial is studying how certain inherited gene changes, particularly in the BAP1 gene, can lead to mesothelioma and other types of cancer. Researchers want to understand how cancer develops in people who have these gene mutations, whether they currently have cancer or not. The study is open to individuals aged 2 and older who either have a confirmed germline mutation in BAP1 or other cancer-related genes, or have a family history of mesothelioma.

Participants in the trial can expect to undergo a variety of tests, including a physical exam, saliva tests, scans, and possibly a biopsy. Those with mesothelioma will have a more extensive initial visit at the NIH, which may take up to four days, while others can participate remotely through phone interviews and annual check-ins. If you have a family member with these gene mutations, you may also be encouraged to invite them to join the study. The goal is to gather valuable information that can help researchers learn more about the connection between genetics and cancer.

Gender

ALL

Eligibility criteria

• * 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