Validation and Data-Integration of Yeast-Based Assays for Functional Classification of BRCA1 Missense Variants

Germline mutations in the BRCA1 gene have been reported to increase the lifetime risk of developing breast and/or ovarian cancer (BOC). By new sequencing technologies, numerous variants of uncertain significance (VUS) are identified. It is mandatory to develop new tools to evaluate their functional...

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Detalles Bibliográficos
Autores principales: Bellè, Francesca, Mercatanti, Alberto, Lodovichi, Samuele, Congregati, Caterina, Guglielmi, Chiara, Tancredi, Mariella, Caligo, Maria Adelaide, Cervelli, Tiziana, Galli, Alvaro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8999655/
https://www.ncbi.nlm.nih.gov/pubmed/35409408
http://dx.doi.org/10.3390/ijms23074049

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8999655/
https://www.ncbi.nlm.nih.gov/pubmed/35409408
http://dx.doi.org/10.3390/ijms23074049

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