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Article

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

International journal of molecular sciences - 6 Apr 2022

Bellè Francesca, Mercatanti Alberto, Lodovichi Samuele, Congregati Caterina, Guglielmi Chiara, Tancredi Mariella, Caligo Maria Adelaide, Cervelli Tiziana, Galli Alvaro

Abstract excerpt

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 impact and pathogenicity. As the expression of pathogenic BRCA1 variants in Saccharomyces cerevisiae increases the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35409408
DOI: 10.3390/ijms23074049
PMCID: PMC8999655

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