This study is currently recruiting participants.
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)
Investigational Device(s)
Intervention(s)
Supporting Site
National Cancer Institute
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.
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ELIGIBILITY CRITERIA: Inclusion Criteria for Genetic Testing -Eligible individuals 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 individuals 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."
Inclusion Criteria for Genetic Testing
-Eligible individuals 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 individuals 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."
Principal Investigator
Referral Contact
For more information: