Malignant Pleural Mesothelioma: Present Status and Future Directions

Somatic and Germline BAP1 Mutations in Malignant Mesothelioma

Author(s): Andrea Napolitano, Laura Pellegrini, Haining Yang and Michele Carbone

Pp: 193-203 (11)

DOI: 10.2174/9781681081946116010018

* (Excluding Mailing and Handling)

Abstract

BRCA1-associated protein 1 (BAP1) has recently emerged as a novel important tumor suppressor gene in malignant mesothelioma. BAP1 is a nuclear deubiquitinating enzyme with several critical biological functions, including regulation of gene transcription, DNA damage response and chromosome stability. Somatic BAP1 mutations are found in about 60% of mesotheliomas, and germline BAP1 mutations have been reported to increase the incidence of malignant mesothelioma and to cause a novel hereditary cancer predisposition syndrome characterized also by higher incidence of several other cancers. In this chapter, we reviewed all the current evidences on the biology of BAP1 and on the clinical implications of its somatic and germline mutations in regards to malignant mesothelioma.


Keywords: Asbestos, BAP1, genetics, germline, malignant mesothelioma, somatic.

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