What this study is
Background:
A germline mutation is a change to a person s genes that is carried through their DNA. These mutations can be passed on from parents to their offspring. Germline mutations in a gene called BAP1 are linked to the development of mesothelioma and other cancers. Researchers want to follow people with these mutations to learn more.
Objective:
To see if researchers can improve how people who have or are suspected to have a BAP1 mutation are monitored over time.
Eligibility:
People age 30 and older who are suspected to have a BAP1 germline mutation.
Design:
Participants will be screened with a personal and family medical history. Their medical records may be reviewed. They will give a blood or saliva sample to test for a BAP1 mutation. They will get genetic counseling.
To take part in this study, participants will enroll on 2 to 3 other protocols.
Participants will have a physical exam. They may have a tumor biopsy. They will give blood and urine samples. They will have skin and eye exams.
Some participants will have video-assisted thoracoscopy to examine the chest and lungs and diagnose suspicious areas. For this, a small camera is inserted into the chest through a small incision.
Some participants will have laparoscopy to examine the organs inside the abdomen. For this, a small camera is inserted into the abdomen through a small incision.
Participants will have imaging scans of the chest, abdomen, and pelvis. They may have brain scans.
Participants will visit the NIH once a year for follow-up exams.
Participation lasts indefinitely.
Study details
- Sponsor
- National Cancer Institute (NCI)
- Conditions
- Familial Cancer · BRCA1-Associated Protein-1 (BAP1) Mutations · Tumor Predisposition Syndrome (TPDS) · Mesothelioma
- Enrolling
- 300 people
- Starts
- 2021-03-30
- Est. completion
- 2038-06-30
- Record
- View on ClinicalTrials.gov ↗
Who can join
Age 30 Years – 120 YearsSex ALLHealthy volunteers AcceptedGenetic Testing
You may qualify if
- ELIGIBILITY CRITERIA:
- Eligible participants include: --Individuals with a history of any malignancy with known or suspected germline mutations involving BAP1 OR --First- or second-degree relatives of patients (with or without cancer) with documented BAP1 tumor predisposition syndrome (TPDS)
- Age >= 30 years.
- All participants must understand and be willing to sign a written informed consent document.
Surveillance
You may qualify if
- ELIGIBILITY CRITERIA:
- Eligible participants include those who completed step 1 genetic testing with study-confirmed BAP1 or other germline TPDS mutation.
- Completed co-enrollment on protocol 06C0014, "Prospective Evaluation of Genetic and Epigenetic Alterations in Patients with Thoracic Malignancies."
Sign in and we'll check these against your records.Full criteria on ClinicalTrials.gov ↗
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Study locations (1)
1 openNational Institutes of Health Clinical Center
Bethesda, Maryland, United States
- For more information at the NIH Clinical Center contact National Cancer Institute Referral Office · Contact888-624-1937
Recruiting
Study team
Sponsor
National Cancer Institute (NCI)
Study ID 200106
Principal investigator
David S Schrump, M.D.
National Cancer Institute (NCI)
Frequently asked questions
The sponsor hasn't published answers to common questions for this trial.