Long Term Follow-up of Mesothelioma Patients and Their Family Members With Germline Mutations in BAP1 and Other Genes
National Cancer Institute (NCI)
Summary
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 certain gene mutations. Eligibility: -People ages 2 and older with a germline mutation in BAP1 or another gene that might cause cancer 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.
Description
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 an…
Eligibility
- Age range
- 2+ years
- Sex
- All
- Healthy volunteers
- No
* Inclusion Criteria: Inclusion Criteria for Genetic Testing: Cohort 1: * Participant with pathology confirming a diagnosis of mesothelioma. * Participant must have a deleterious germline BAP1 mutation. Results from either research or clinical analyses are sufficient for this criterion. OR -Participant with mesothelioma otherwise eligible for genetic testing in Cohort 2 OR * Participant must have deleterious germline mutation in another DNA repair/cancer predisposition gene(s) that is listed on a commercially available, cancer-associated common or customized gene panel. Results from eit…
Location
- National Institutes of Health Clinical CenterBethesda, Maryland