Article
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.
Journal of the National Cancer Institute - 1 Dec 2018
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
Abstract excerpt
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...
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