Literature DB >> 24500773

Should a BRCA2 stop codon human variant, usually considered a polymorphism, be classified as a predisposing mutation?

Valeria D'Argenio1, Maria Valeria Esposito, Jean Ann Gilder, Giulia Frisso, Francesco Salvatore.   

Abstract

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Year:  2014        PMID： 24500773     DOI： 10.1002/cncr.28605

Source DB:  PubMed          Journal:  Cancer        ISSN： 0008-543X            Impact factor:   6.860


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  3 in total

1.  A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA.

Authors:  Maria Valeria Esposito; Marcella Nunziato; Flavio Starnone; Antonella Telese; Alessandra Calabrese; Giuseppe D'Aiuto; Pietro Pucci; Massimiliano D'Aiuto; Francisco Baralle; Valeria D'Argenio; Francesco Salvatore
Journal:  Int J Mol Sci       Date:  2016-12-21       Impact factor: 5.923

2.  Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report.

Authors:  Marcella Nunziato; Flavio Starnone; Barbara Lombardo; Matilde Pensabene; Caterina Condello; Francesco Verdesca; Chiara Carlomagno; Sabino De Placido; Lucio Pastore; Francesco Salvatore; Valeria D'Argenio
Journal:  Int J Mol Sci       Date:  2017-11-22       Impact factor: 5.923

3.  A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair.

Authors:  Maria Valeria Esposito; Giuseppina Minopoli; Luciana Esposito; Valeria D'Argenio; Federica Di Maggio; Emanuele Sasso; Massimiliano D'Aiuto; Nicola Zambrano; Francesco Salvatore
Journal:  Cancers (Basel)       Date:  2019-09-28       Impact factor: 6.639
  3 in total

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