Protocol Details
Long Term Follow-up of Mesothelioma Patients and Their Family Members with Germline Mutations in BAP1 and Other Genes
This study is currently recruiting participants.
Summary
Number |
19-C-0049 |
Sponsoring Institute |
National Cancer Institute (NCI) |
Recruitment Detail |
Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 2 Years
Max Age: N/A |
Referral Letter Required |
No |
Population Exclusion(s) |
Adults who are or may become unable to consent |
Keywords |
DNA Repair Genes;
Natural History |
Recruitment Keyword(s) |
None |
Condition(s) |
Mesothelioma;
Families |
Investigational Drug(s) |
None |
Investigational Device(s) |
None |
Intervention(s) |
None |
Supporting Site |
National Cancer Institute |
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 mesothelioma and other cancers. Researchers want to study people with germline mutations of BAP1 and other genes known to cause cancer.
Objective:
-To learn how cancer might develop in people with certain gene mutations.
Eligibility:
-People ages 2 and older with a germline mutation in BAP1 or another gene that might cause cancer
Design:
-Participants will be screened with:
--Medical and family history
--Saliva test
-Participants with mesothelioma will be in the NIH Group. Participants without mesothelioma can choose to be in either the NIH Group or the Remote Group.
-Remote Group participants will have a medical and family history by phone. If they have tumor tissue from a previous surgery, it will be tested. They will be contacted once a year by phone.
-NIH Group participants will have a baseline visit. This can take up to 4 days. They may have to stay in the area overnight. The visit will include:
--Physical exam
--Evaluation of tumor tissue if available
--Optional tumor biopsy
--Blood tests
--Scans: A machine will take pictures of the body.
--Photographs of skin lesions or other issues
--Skin exam
--Eye exam
-NIH Group participants will have visits once or twice a year. These will include a physical exam, lab tests, scans, and other tests as needed.
-Participants who have a confirmed mutation will be asked to contact any relatives who may be at risk and ask them about joining the study.
Eligibility
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
Citations:
Not Provided
Contacts:
Clinical Trials Number:
NCT03830229