Condition: Familial Cancer · BRCA1-Associated Protein-1 (BAP1) Mutations · Tumor Predisposition Syndrome (TPDS) · Sponsor: National Cancer Institute (NCI)
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 vi…
This description comes directly from the study's public registry record.
Rebecca B Alexander · (240) 781-4037 · rebecca.alexander@nih.gov
David S Schrump, M.D. · (240) 760-6239 · david_schrump@nih.gov
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| National Institutes of Health Clinical Center | Bethesda, Maryland, United States | Recruiting |
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Source record: clinicaltrials.gov/study/NCT04431024