Background:
-A gene provides instructions to the body. Mutated genes can sometimes cause cancer.
Germline mutations are those people are born with. These mutations in the BAP1 gene can
cause mesothelioma and other cancers. Researchers want to study people with germline
mutations of BAP1 and other genes known to cause cancer.
Objective:
-To learn how cancer might develop in people with BAP1 mutations.
Eligibility:
-People ages 2 and older with a germline mutation in BAP1
Design:
- Participants will be screened with:
- Medical and family history
- Saliva test
- Participants with mesothelioma will be in the NIH Group. Participants without
mesothelioma can choose to be in either the NIH Group or the Remote Group.
- Remote Group participants will have a medical and family history by phone. If they
have tumor tissue from a previous surgery, it will be tested. They will be contacted
once a year by phone.
- NIH Group participants will have a baseline visit. This can take up to 4 days. They
may have to stay in the area overnight. The visit will include:
- Physical exam
- Evaluation of tumor tissue if available
- Optional tumor biopsy
- Blood tests
- Scans: A machine will take pictures of the body.
- Photographs of skin lesions or other issues
- Skin exam
- Eye exam
- NIH Group participants will have visits once or twice a year. These will include a
physical exam, lab tests, scans, and other tests as needed.
- Participants who have a confirmed mutation will be asked to contact any relatives
who may be at risk and ask them about joining the study.
Study sponsor and potential other locations can be found on ClinicalTrials.gov for NCT03830229.
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:
- BRCA1-Associated Protein-1 (BAP1), a deubiquitinase involved in regulating DNA
repair enzymes, is believed to be a prominent mutation in malignant mesothelioma.
- Germline mutations involving BAP1 have been reported in familial studies. These have
been associated with a higher likelihood of mesothelioma as well as several other
malignancies, including uveal melanoma, cutaneous melanomas, renal cell carcinoma
and cholangiocarcinoma.
- BAP1 mutations, if found, have a high probability of detecting multiple malignancies
in family members.
Objectives:
-To characterize the natural and clinical history of patients with malignant
mesothelioma, their family members and individuals who have germline mutations in BAP1
Eligibility for Genetic Testing:
Cohort 1
-Individual with mesothelioma with deleterious germline mutations in BAP1 (previous
testing may have been research or clinical)
OR
- Individual with a diagnosis of mesothelioma who is otherwise eligible for testing on
Cohort 2
- Age >= 2
Cohort 2
-Individual with a germline BAP1 mutation who does not have a history of mesothelioma
(previous testing may have been research or clinical)
OR
-Individual with no personal history of mesothelioma with:
--a first degree biological relative (living or deceased) with a history of mesothelioma
OR
--a first degree biological relative with a CLIA (or equivalent) confirmed germline
mutation in BAP1
OR
--a second degree biological relative with a CLIA (or equivalent) confirmed germline
mutation in BAP1 if relevant first degree relative is deceased or unavailable for testing
OR
--a second degree biological relative with mesothelioma and a CLIA (or equivalent)
confirmed germline mutation in BAP1
-Age >= 2
Eligibility for Surveillance:
Cohort 1
-No additional criteria
Cohort 2
-Testing performed on study must confirm presence of germline mutation in BAP1
Design:
- Individuals with suspected hereditary predisposition to mesothelioma and their
families will be recruited to assess for genetic mutations, and to study the natural
history of malignancies occurring in germline BAP1 mutations.
- Screening examinations will be offered to those with germline BAP1 mutations.
- We will determine if there is a relationship between germline mutation and disease
phenotype.
Trial PhaseNo phase specified
Trial TypeNot provided by clinicaltrials.gov
Lead OrganizationNational Cancer Institute
Principal InvestigatorRaffit Hassan
