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Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing

SIMPLE SUMMARY: BRCA1 and BRCA2 are two major high-penetrance breast/ovarian cancer predisposition genes, whose mutations can lead to high risk and early onset of breast and ovarian cancer. Numerous studies are focused on spectrum and prevalence of BRCA1/2 mutations worldwide. This is the first stud...

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Detalles Bibliográficos
Autores principales: Patruno, Margherita, De Summa, Simona, Resta, Nicoletta, Caputo, Mariapia, Costanzo, Silvia, Digennaro, Maria, Pilato, Brunella, Bagnulo, Rosanna, Pantaleo, Antonino, Simone, Cristiano, Natalicchio, Maria Iole, De Matteis, Elisabetta, Tarantino, Paolo, Tommasi, Stefania, Paradiso, Angelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8467705/
https://www.ncbi.nlm.nih.gov/pubmed/34572941
http://dx.doi.org/10.3390/cancers13184714