Protocol Details
Prospective Evaluation of High Resolution Dual Energy Computed Tomographic Imaging, Noninvasive (Liquid) Biopsies, and Minimally Invasive Surgical Surveillance for Early Detection of Mesotheliomas in Patients with BAP1 Tumor Predisposition Syndrome
This study is currently recruiting participants.
Summary
Number |
20-C-0106 |
Sponsoring Institute |
National Cancer Institute (NCI) |
Recruitment Detail |
Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 30 Years
Max Age: N/A |
Referral Letter Required |
No |
Population Exclusion(s) |
Children |
Keywords |
Germline Mutation in the BAP1 Gene;
BRCA1-Associated Protein-1;
Genetics;
Familial Background;
Natural History;
DECT |
Recruitment Keyword(s) |
None |
Condition(s) |
Familial Cancer;
BRCA1-Associated Protein-1 (BAP1) mutations;
Tumor Predisposition Syndrome (TPDS);
Mesothelioma |
Investigational Drug(s) |
None |
Investigational Device(s) |
None |
Intervention(s) |
None |
Supporting Site |
National Cancer Institute |
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.
Eligibility
ELIGIBILITY CRITERIA:
Inclusion Criteria for Genetic Testing
-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 greater than or equal to 30 years.
-All participants must understand and be willing to sign a written informed consent document.
Inclusion Criteria for Surveillance
-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."
Citations:
Not Provided
Contacts:
Clinical Trials Number:
NCT04431024