Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide
- Walpole, Sebastian
- Pritchard, Antonia L
- Cebulla, Colleen M
- Pilarski, Robert
- Stautberg, Meredith
- Davidorf, Frederick H
- de la Fouchardière, Arnaud
- Cabaret, Odile
- Golmard, Lisa
- Stoppa-Lyonnet, Dominique
- Garfield, Erin
- Njauw, Ching-Ni
- Cheung, Mitchell
- Turunen, Joni A
- Repo, Pauliina
- Järvinen, Reetta-Stiina
- van Doorn, Remco
- Jager, Martine J
- Luyten, Gregorius P M
- Marinkovic, Marina
- Chau, Cindy
- Potrony, Miriam
- Höiom, Veronica
- Helgadottir, Hildur
- Pastorino, Lorenza
- Bruno, William
- Andreotti, Virginia
- Dalmasso, Bruna
- Ciccarese, Giulia
- Queirolo, Paola
- Mastracci, Luca
- Wadt, Karin
- Kiilgaard, Jens Folke
- Speicher, Michael R
- van Poppelen, Natasha
- Kilic, Emine
- Al-Jamal, Rana'a T
- Dianzani, Irma
- Betti, Marta
- Bergmann, Carsten
- Santagata, Sandro
- Dahiya, Sonika
- Taibjee, Saleem
- Burke, Jo
- Poplawski, Nicola
- O'Shea, Sally J
- Newton-Bishop, Julia
- Adlard, Julian
- Adams, David J
- Lane, Anne-Marie
- Kim, Ivana
- Klebe, Sonja
- Racher, Hilary
- Harbour, J William
- Nickerson, Michael L
- Murali, Rajmohan
- Palmer, Jane M
- Howlie, Madeleine
- Symmons, Judith
- Hamilton, Hayley
- Warrier, Sunil
- Glasson, William
- Johansson, Peter
- Robles-Espinoza, Carla Daniela
- Ossio, Raul
- de Klein, Annelies
- Puig, Susana
- Ghiorzo, Paola
- Nielsen, Maartje
- Kivelä, Tero T
- Tsao, Hensin
- Testa, Joseph R
- Gerami, Pedram
- Stern, Marc-Henri
- Paillerets, Brigitte Bressac-de
- Abdel-Rahman, Mohamed H
- Hayward, Nicholas K
Publication date
January 2018
DOIAbstract
The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a hereditary tumor syndrome caused by germline pathogenic variants in BAP1 encoding a tumor suppressor associated with uveal melanoma, mesothelioma, cutaneous melanoma, renal cell carcinoma, and cutaneous BAP1-inactivated melanocytic tumors. However, the full spectrum of tumors associated with the syndrome is yet to be determined. Improved understanding of the BAP1-TPDS is crucial for appropriate clinical management of BAP1 germline variant carriers and their families, including genetic counseling and surveillance for new tumors
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