BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants

The aim of this report is to describe results of BRCA1 and BRCA2 Next Generation Sequencing Analysis (NGS) analysis in 132 selected Italian patients with breast/ovarian cancer. A NGS pipeline with a reliable Copy Number Variation (CNV) prediction algorithm was applied. In addition, VarSome and Prior...

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Detalles Bibliográficos
Autores principales: Concolino, Paola, Gelli, Gianfranco, Rizza, Roberta, Costella, Alessandra, Scambia, Giovanni, Capoluongo, Ettore
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6678297/
https://www.ncbi.nlm.nih.gov/pubmed/31336956
http://dx.doi.org/10.3390/ijms20143442

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6678297/
https://www.ncbi.nlm.nih.gov/pubmed/31336956
http://dx.doi.org/10.3390/ijms20143442

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