Lectures and seminars Seminar: "The BAP1 cancer syndrome: discovery, mechanisms and clinical translation"
Welcome to a seminar with Professor Michele Carbone, University of Hawai Cancer Center, USA.
Dr. Michele Carbone’s groundbreaking research transformed our understanding of mesothelioma and inherited cancer risk. His work led to the discovery of BAP1 Cancer Syndrome, established its genetic and molecular basis, and introduced early detection and surveillance strategies for affected families. His studies also identified BAP1-associated mesothelioma (L-BAM) as a distinct, less aggressive form of the disease. His findings have influenced clinical diagnosis, genetic testing, patient surveillance, and public health policies, benefiting patients worldwide.
References
Novelli F, et al. Germline BARD1 variants predispose to mesothelioma by impairing DNA repair and calcium signaling. PNAS. 2024;121: e2405231121.
Bononi A, et al. BAP1 is a novel regulator of HIF-1α. PNAS. 2023;120(4): e2217840120.
Novelli F, et al. BAP1 forms a trimer with HMGB1 and HDAC1 that modulates gene × environment interaction with asbestos. PNAS. 2021;118: e2111946118.
Host
Professor Qiang Pan-Hammarström, Department of Medical Biochemistry and Biophysics, Karolinska Institutet