Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experi...
Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience
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Author / Creator
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 and Dianzani, Irma
Publisher
Basel: MDPI AG
Journal title
Language
English
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Publication information
Publisher
Basel: MDPI AG
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More information
Scope and Contents
Contents
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 results of our ten-year experience in the molecula...
Alternative Titles
Full title
Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_9b303ee8ebc544bd916a43b7cbf42848
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9b303ee8ebc544bd916a43b7cbf42848
Other Identifiers
ISSN
2075-4418
E-ISSN
2075-4418
DOI
10.3390/diagnostics12071710
