Presently,malignant mesothelioma causes about 3,000 deaths per year in the United States, and about5,000 in Western Europe.Most cases of pleural mesothelioma have been linked to high levels of asbestos exposure, usually in the workplace. With increased urban development, exposure may also occur fromdisturbing asbestos and erionite-containing soil. Despite asbestos abatement efforts, malignantmesothelioma rates have remained stable in the US since 1994 and are expected to increase by 5-10%per year in most European countries for the next 25 years. In developing countries, where use of asbestosis increasing with sometimes inadequate safeguards, a dramatic rise in malignantmesothelioma incidenceis predicted as well. With exposure to mineral fibers such as asbestos continuing, it is important to identifyrisk factors thatmay predispose individuals to develop malignant mesothelioma. A knowledge of such risk factorsmay provide for interventions that may delay or prevent the onset of this deadly disease.
Summary of the Invention
Renowned cancer researchers from Fox Chase Cancer Center and Hawaii University discovered that germline mutations in the BRCAl associated protein 1 gene (BAP1) predispose a subject having this alteration to develop mesothelioma and certain othercancers. The invention features methods for identifying alterations in BAP1 rendering the encoded protein mutated, truncated or decayed, resulting inimpaired or no biological activity. Identifying the specific mutations within the BAP1 gene in subjects is a powerful tool for diagnosis and predicting development of mesothelioma, particularly in individuals exposed to carcinogenic mineral fibers such as asbestos.
Testa J.R. et al., "Germline BAP1 mutations predispose to malignant mesothelioma", Nat Genet. 2011 Oct; 43(10): 1022–1025.
- Uncovers novel genetic markers for diagnosis and prediction of developing malignant mesothelioma, particularly in individuals exposed to carcinogenic mineral fibers.
- Involves targeted and currently inexpensive germline DNA or RNA sequencing.
Patent US 10,344,333 issued on July 9, 2019. https://patents.google.com/patent/US10344333B2
For partnering/licensing information, please contact:
Inna Khartchenko, MS, MBA
Director, Technology Transfer and New Ventures