Segregation analysis of the BRCA2 c.9227G>T variant in multiple families suggests a pathogenic role in breast and ovarian cancer predisposition

Classification of variants in the BRCA1 and BRCA2 genes has a major impact on the clinical management of subjects at high risk for breast and ovarian cancer. The identification of a pathogenic variant allows for early detection/prevention strategies in healthy carriers as well as targeted treatments...

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Detalles Bibliográficos
Autores principales: Agata, Simona, Tognazzo, Silvia, Alducci, Elisa, Matricardi, Laura, Moserle, Lidia, Barana, Daniela, Montagna, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7438490/
https://www.ncbi.nlm.nih.gov/pubmed/32814805
http://dx.doi.org/10.1038/s41598-020-70729-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7438490/
https://www.ncbi.nlm.nih.gov/pubmed/32814805
http://dx.doi.org/10.1038/s41598-020-70729-0

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