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

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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Bibliographic Details
Main Authors: Francesca Bellè, Alberto Mercatanti, Samuele Lodovichi, Caterina Congregati, Chiara Guglielmi, Mariella Tancredi, Maria Adelaide Caligo, Tiziana Cervelli, Alvaro Galli
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:International Journal of Molecular Sciences
Subjects:
BRCA1
yeast-based functional assays
variant of uncertain significance
variant classification
homologous recombination
gene reversion
Online Access:https://www.mdpi.com/1422-0067/23/7/4049

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https://www.mdpi.com/1422-0067/23/7/4049

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