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.
Additional locations may be listed on ClinicalTrials.gov for NCT04431024.
Locations matching your search criteria
United States
Maryland
Bethesda
National Institutes of Health Clinical CenterStatus: Active
Contact: National Cancer Institute Referral Office
Phone: 888-624-1937
Background:
- Mutations involving BRCA1-Associated Protein-1 (BAP1), a nuclear deubiquitinase
involved in epigenetic regulation of gene expression, DNA repair, and cellular
energetics, have emerged as one of the most common somatic mutations in malignant
mesotheliomas.
- Germline mutations involving BAP1 predispose individuals to mesothelioma as well as
a variety of other malignancies including melanoma and lung, renal, gastric, breast,
and biliary tract cancers.
- The cancer penetrance of germline BAP1 mutations is nearly 100%, with most patients
developing multiple neoplasms.
- Presently there are no established guidelines for surveillance of cancer patients
with germline BAP1 mutations or of cancer-free individuals with germline BAP1
mutations.
Objectives:
To prospectively gather information related to the use of dual energy computed
tomographic imaging (DECT) together with minimally invasive surgical surveillance for
early detection of pleural or peritoneal mesothelioma in participants with BAP1 tumor
predisposition syndrome (TPDS)
Eligibility:
- Individuals with a history of any malignancy with known or suspected germline
mutation involving BAP1.
- First- or second-degree relatives of patients with documented germline BAP1
mutations, who are also found to carry similar germline mutations.
- Age greater than or equal to 30
Design:
- Participants with suspected hereditary tumor predisposition syndromes will undergo
germline evaluation using CLIA-certified next-gen sequencing (NGS).
- First- and second-degree relatives of patients with germline BAP1 mutations who
become protocol participants will be offered similar NGS evaluation.
- Participants with germline mutations in BAP1 will undergo periodic dual energy CT
(DECT) scans of the chest, abdomen, and pelvis. Plasma cell-free DNA (cfDNA) will be
assessed at similar intervals, and minimally invasive surveillance procedures (i.e.,
video-assisted thoracoscopy and laparoscopy) will be performed periodically to
detect early, subclinical malignancies that may be amenable to potentially curative
local interventions.
Trial PhaseNo phase specified
Trial TypeNot provided by clinicaltrials.gov
Lead OrganizationNational Cancer Institute
Principal InvestigatorDavid S. Schrump
