Article
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Endocrine-related cancer - 1 May 2025
Ganner Athina, Ferrara Alfonso Massimiliano, Sekula Peggy, Schiavi Francesca, Joo Julia H, Sanso Gabriela, Almeida Madson Q, Knoblauch Anna Laura, Gizaw Christine Julia, Krzystolik Karol, Astheimer Sophie Charlotte, Achatz Maria Isabel, Vieites Ana, Donegan Diane, Hundsberger Thomas, Lubinski Jan, Yildirim Simsir Ilgin, Bandgar Tushar, Hasse-Lazar Kornelia, Pawlaczek Agnieszka, Zandee Wouter, Yu Kai, Kater Claudio E, Rostomyan Liliya, Qi Xiao-Ping, Deutschbein Timo, Remde Hanna, Dallagnol Tabatha Nakakogue, Yukina Marina, Baudrand Rene, Andreescu Corina E, Kunavisarut Tada, Ishak Nur Diana, Le Guillou Horn Xavier, Shutler Gemma, Jovanovic Milan, Pęczkowska Mariola, Calissendorff Jan, Circosta Francesco, Bugalho Maria João, Corssmit Eleonora P M, Gimm Oliver, Quinkler Marcus, Goldmann Andrea, Watutantrige Fernando Sara, Zovato Stefania, Santana Lucas S, Freitas-Castro Felipe, Rothermundt Christian, Zimmermann Josa, Durmaz Asude, Aykut Ayca, Vroonen Laurent, Krauss Tobias, Taschner Christian, Ruf Juri, Klingler Jan-Helge, Gläsker Sven, Lang Stefan, Bucher Felicitas, Agostini Hansjürgen, Jilg Cordula, Schultze-Seemann Wolfgang, Bausch Birke, Bergfeld Antonia, Rhein Kilian, Uslar Thomas, Concistrè Antonio, Juhlin C Christofer, Casali-da-Rocha José Cláudio, Petramala Luigi, Tsoy Uliana, Grineva Elena, Fang Xu-Dong, Kotsis Fruzsina, Schaefer Tobias, Links Thera P, Makay Özer, Fagundes Gustavo F C, Ngeow Joanne, Shah Nalini, Opocher Giuseppe, Barontini Marta, Larsson Catharina, Januszewicz Andrzej, Viana Lima José, Wohllk Nelson, Letizia Claudio, Donatini Gianluca, Maher Eamonn R, Beltsevich Dmitry, Bancos Irina, Cybulski Cezary, Walz Martin K, Köttgen Anna, Eng Charis, Neumann Hartmut P H, Neumann-Haefelin Elke
Abstract excerpt
Hereditary tumor predisposition syndromes pose a challenge for early detection and timely treatment of tumors. In von Hippel-Lindau disease, desirable personalized surveillance programs are lacking due to insufficient data on genotype-specific risk profiles of individual mutations. To describe neoplastic risk profiles for carriers of pathogenic and likely pathogenic VHL germline mutations, our observational study...