Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience

Germline mutations in the tumor suppressor gene BRCA1-associated protein-1 (BAP1) lead to BAP1 tumor predisposition syndrome (BAP1-TPDS), characterized by high susceptibility to several tumor types, chiefly melanoma, mesothelioma, renal cell carcinoma, and basal cell carcinoma. Here, we present the...

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Detalles Bibliográficos
Autores principales: Sculco, Marika, La Vecchia, Marta, Aspesi, Anna, Clavenna, Michela Giulia, Salvo, Michela, Borgonovi, Giulia, Pittaro, Alessandra, Witel, Gianluca, Napoli, Francesca, Listì, Angela, Grosso, Federica, Libener, Roberta, Maconi, Antonio, Rena, Ottavio, Boldorini, Renzo, Giachino, Daniela, Bironzo, Paolo, Maffè, Antonella, Alì, Greta, Elefanti, Lisa, Menin, Chiara, Righi, Luisella, Tampieri, Cristian, Scagliotti, Giorgio Vittorio, Dianzani, Caterina, Ferrante, Daniela, Migliore, Enrica, Magnani, Corrado, Mirabelli, Dario, Matullo, Giuseppe, Dianzani, Irma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9317020/
https://www.ncbi.nlm.nih.gov/pubmed/35885614
http://dx.doi.org/10.3390/diagnostics12071710

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