BAP1 hereditary cancer predisposition syndrome: a case report and review of literature

Sonja Klebe, Jack Driml, Masaki Nasu, Sandra Pastorino, Amirmasoud Zangiabadi, Douglas Henderson, Michele Carbone

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    A 72-year-old woman was diagnosed with uveal melanoma, peritoneal mesothelioma and a primary biliary tract adenocarcinoma. She had a strong family history of mesothelioma as well as other malignancies including renal cell carcinoma. The recently described BAP1 hereditary cancer predisposition syndrome was suspected, but immunohistochemical labeling was not conclusive. Genetic testing confirmed a novel and unusual germline mutation in the ubiquitin hydrolase domain of the BAP1 gene (p.Tyr173Cys) and the patient was diagnosed with the BAP1 hereditary cancer predisposition syndrome. This case demonstrates the importance of clinically recognizing this rare syndrome and its manifestations, some which are still being characterized. It also highlights the importance of genetic testing in cases where there is a high clinical suspicion, even when screening tests, such as immunohistochemistry, in this case, are inconclusive. The diagnosis of a germline BAP1 mutation may have important implications for both the patient and their families with regards to further genetic testing and active surveillance programs. Further research is needed to fully understand the extent and clinical implications of this rare cancer syndrome.
    Original languageEnglish
    Article number14
    Number of pages7
    JournalBiomarker Research
    Publication statusPublished - 2 Jul 2015

    Bibliographical note

    2015 Klebe et al. This is an Open Access article distributed under the terms of the Creative Commons Attribution License
    ( which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http:// applies to the data made available in this article, unless otherwise stated.


    • Mesothelioma
    • Melanoma
    • : BAP1 hereditary cancer predisposition syndrome


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