Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Defini...
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance
About this item
Full title
Author / Creator
Gelli, Elisa , Colombo, Mara , Pinto, Anna Maria , De Vecchi, Giovanna , Foglia, Claudia , Amitrano, Sara , Morbidoni, Valeria , Imperatore, Valentina , Manoukian, Siranoush , Baldassarri, Margherita , Lo Rizzo, Caterina , Catania, Lorenza , Frullanti, Elisa , Tagliafico, Enrico , Cortesi, Laura , Spaggiari, Federica , Mencarelli, Maria Antonietta , Trevisson, Eva , Radice, Paolo , Renieri, Alessandra and Ariani, Francesca
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
Highly penetrant variants of BRCA1/2 genes are involved in hereditary predisposition to breast and ovarian cancer. The detection of pathogenic BRCA variants has a considerable clinical impact, allowing appropriate cancer-risk management. However, a major drawback is represented by the identification of variants of uncertain significance (VUS). Many...
Alternative Titles
Full title
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance
Authors, Artists and Contributors
Author / Creator
Colombo, Mara
Pinto, Anna Maria
De Vecchi, Giovanna
Foglia, Claudia
Amitrano, Sara
Morbidoni, Valeria
Imperatore, Valentina
Manoukian, Siranoush
Baldassarri, Margherita
Lo Rizzo, Caterina
Catania, Lorenza
Frullanti, Elisa
Tagliafico, Enrico
Cortesi, Laura
Spaggiari, Federica
Mencarelli, Maria Antonietta
Trevisson, Eva
Radice, Paolo
Renieri, Alessandra
Ariani, Francesca
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6468917
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6468917
Other Identifiers
ISSN
2072-6694
E-ISSN
2072-6694
DOI
10.3390/cancers11030295
