Detecting germline BAP1 mutations in patients with peritoneal mesothelioma: benefits to patient and family members

作者：Muaiad Kittaneh, Charles Berkelhammer · 发表于：Journal of Translational Medicine · 年份：2018 · DOI：10.1186/s12967-018-1559-7 · 被引用次数：32 · 研究领域：Occupational and environmental lung diseases、Radiation Therapy and Dosimetry

Germline mutations in the BRCA-1 associated tumor protein 1 (BAP1) increase susceptibility to mesothelioma and other cancers. We describe a patient with a family history of peritoneal mesothelioma, who developed malignant peritoneal mesothelioma at age 45 in the absence of known asbestos exposure. These findings lead us to hypothesize that the mesothelioma occurred in the setting of germline a BAP1 mutation. This was confirmed by genetic testing. The subsequent therapeutic choices for the patient and testing of at-risk family members highlight the importance of recognizing this genetic syndrome and screening for individuals at high risk.