Long Term Follow-up of Mesothelioma Patients and Their Family Members With Germline Mutations in BAP1 and Other Genes

Summary

Participation Requirements

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...

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 malignant mesothelioma patients and their family members who have germline mutations in BAP1 and other DNA repair/cancer predisposition genes Eligibility for Genetic Testing: Cohort 1 -Individual with mesothelioma with deleterious germline mutations in BAP1 or another DNA-repair/cancer predisposition gene(s) (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 greater than or equal to 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 confirmed germline mutation in BAP1 OR --a first degree biological relative with mesothelioma and a CLIA confirmed germline mutation in another DNA-repair/cancer predisposition genes OR --a second degree biological relative with mesothelioma and a CLIA confirmed germline mutation in BAP1 -Age greater than or equal to 16 unless participant has a BAP1 mutation or a first degree biological relative with a confirmed TP53 or BAP1 germline mutation; in such cases, will begin screening at age greater than or equal to 2 Eligibility for Surveillance: Cohort 1 -No additional criteria Cohort 2 -Testing performed on study must confirm presence of germline mutation in BAP1 or another DNA repair/cancer predisposition gene(s) 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 as well as other mutations involved in DNA repair. Screening examinations will be offered to those with germline BAP1 mutations as well as other mutations involved in DNA repair/cancer predisposition. We will determine if there is a relationship between germline mutation and disease phenotype.

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