Update of penetrance estimates in Birt-Hogg-Dubé syndrome

• المؤلفون الرئيسيون: Bruinsma, Fiona Jane, Dowty, James G., Win, Aung Ko, Goddard, Laura C., Agrawal, Prachi, Attina', Domenico, Bissada, Nabil, De Luise, Monica, Eisen, Daniel B., Furuya, Mitsuko, Gasparre, Giuseppe, Genuardi, Maurizio, Gerdes, Anne-Marie, Hansen, Thomas Van Overeem, Houweling, Arjan C., Johannesma, Paul Christiaan, Lencastre, André, Lim, Derek, Lindor, Noralane M., Luzzi, Valentina, Lynch, Maeve, Maffé, Antonella, Menko, Fred H., Michels, Guido, Pulido, Jose S., Ryu, Jay H., Sattler, Elke C., Steinlein, Ortrud K., Tomassetti, Sara, Tucker, Kathy, Turchetti, Daniela, van de Beek, Irma, van Riel, Lore, van Steensel, Maurice, Zenone, Thierry, Zompatori, Maurizo, Walsh, Jennifer, Bondavalli, Davide, Maher, Eamonn R., Winship, Ingrid M.
• مؤلفون آخرون: Lee Kong Chian School of Medicine (LKCMedicine)
• التنسيق: مقال
• اللغة: English
• منشور في: 2023
• الموضوعات: Science::Medicine; Gene Expression; Genetic Predisposition to Disease
• الوصول للمادة أونلاين: https://hdl.handle.net/10356/171789
• المؤسسة: Nanyang Technological University

Background: Birt-Hogg-Dubé (BHD) syndrome is a rare genetic syndrome caused by pathogenic or likely pathogenic germline variants in the FLCN gene. Patients with BHD syndrome have an increased risk of fibrofolliculomas, pulmonary cysts, pneumothorax and renal cell carcinoma. There is debate regarding...