Authors
Sebastian Walpole, Antonia L Pritchard, Colleen M Cebulla, Robert Pilarski, Meredith Stautberg, Frederick H Davidorf, Arnaud De La Fouchardière, Odile Cabaret, Lisa Golmard, Dominique Stoppa-Lyonnet, Erin Garfield, Ching-Ni Njauw, Mitchell Cheung, Joni A Turunen, Pauliina Repo, Reetta-Stiina Järvinen, Remco Van Doorn, Martine J Jager, Gregorius PM Luyten, Marina Marinkovic, Cindy Chau, Miriam Potrony, Veronica Höiom, Hildur Helgadottir, Lorenza Pastorino, William Bruno, Virginia Andreotti, Bruna Dalmasso, Giulia Ciccarese, Paola Queirolo, Luca Mastracci, Karin Wadt, Jens Folke Kiilgaard, Michael R Speicher, Natasha Van Poppelen, Emine Kilic, Rana’a T Al-Jamal, Irma Dianzani, Marta Betti, Carsten Bergmann, Sandro Santagata, Sonika Dahiya, Saleem Taibjee, Jo Burke, Nicola Poplawski, Sally J O’Shea, Julia Newton-Bishop, Julian Adlard, David J Adams, Anne-Marie Lane, Ivana Kim, Sonja Klebe, Hilary Racher, J William Harbour, Michael L Nickerson, Rajmohan Murali, Jane M Palmer, Madeleine Howlie, Judith Symmons, Hayley Hamilton, Sunil Warrier, William Glasson, Peter Johansson, Carla Daniela Robles-Espinoza, Raul Ossio, Annelies de Klein, Susana Puig, Paola Ghiorzo, Maartje Nielsen, Tero T Kivelä, Hensin Tsao, Joseph R Testa, Pedram Gerami, Marc-Henri Stern, Brigitte Bressac-de Paillerets, Mohamed H Abdel-Rahman, Nicholas K Hayward
Publication date
2018/12/1
Source
JNCI: Journal of the National Cancer Institute
Volume
110
Issue
12
Pages
1328-1341
Publisher
Oxford University Press
Description
Background
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.
Methods
We collated germline variant status, tumor diagnoses, and information on BAP1 immunohistochemistry or loss of somatic heterozygosity on 106 published and 75 unpublished BAP1 germline variant-positive families …
Scholar articles
S Walpole, AL Pritchard, CM Cebulla, R Pilarski… - JNCI: Journal of the National Cancer Institute, 2018