An observational study in Familial Cancer, BRCA1-Associated Protein-1 (BAP1) Mutations and Tumor Predisposition Syndrome (TPDS), sponsored by National Cancer Institute (NCI). Recruiting at 1 site in United States. Open to participants aged 30 Years to 120 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-09-23.
Sponsored by National Cancer Institute (NCI) · Observational
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....
Background:
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:
Design:
Individuals, and family members of the individual, who fulfill clinical criteria of a history of cancer and detected or suspected germline mutation in BAP1 TPDS.
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)
Inclusion Criteria for Surveillance
Individuals with history of cancer and detected or suspected germline mutation in BAP1 TPDS
First- or second-degree relatives of a cancer patient (with or without cancer) with documented BAP1 tumor predisposition syndrome (TPDS)
Prospectively gather information related to the use of dual energy computed tomographic imaging (DECT) together with minimally invasive surveillance for early detection of mesotheliomas in patients with BAP1 TPDS
Documentation of the counts, incidence, and frequencies of cancers from dual energy computed tomographic imaging and minimally invasive surveillance results will be analyzed for statistical analysis for the early detection of mesotheliomas in patients with BAP1 TPDS.
Time frame: annual or biennial follow-up, 5 years interim analysis
To characterize the epigenetic features of mesotheliomas associated with germline mutations in BAP1
Characterization of the epigenetic features of mesotheliomas associated with germline mutations in BAP1.
Time frame: at clinical visits, annual or bi-annual follow-up
To investigate the biological mechanisms associated with prolonged survival in participants with mesothelioma that carry germline BAP1 mutations
Tumor tissue, blood, saliva, or buccal swab specimen for genetic analyses including WES, FACS, Western blots, and RNA sequencing.
Time frame: once during follow-up per participant agreement
Plan to share: Yes — All IPD recorded in the medical record will be shared with intramural investigators upon request. @@@@@@In addition, all large scale genomic sequencing data will be shared with subscribers to dbGaP.
Supporting information: Study protocol, Sap, Icf
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National Cancer Institute (NCI)