Long Term Follow-Up of Patients With Mesothelioma and Individuals With Germline Mutations in BAP1

Families, Mesothelioma

DNA Repair Genes, Natural History

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.

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.

None listed

United States