Update of penetrance estimates in Birt-Hogg-Dubé syndrome

• Main Authors: 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.
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2023
• Subjects: Science::Medicine; Gene Expression; Genetic Predisposition to Disease
• Online Access: https://hdl.handle.net/10356/171789
• Institution: 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...