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Article

Assessing the Impact of Novel BRCA1 Exon 11 Variants on Pre-mRNA Splicing.

Cells - 11 May 2024

Elshwekh Halla, Alhudiri Inas M, Elzagheid Adam, Enattah Nabil, Abbassi Yasmine, Abou Assali Lubna, Marino Ilenia, Stuani Cristiana, Buratti Emanuele, Romano Maurizio

Abstract excerpt

Our study focused on assessing the effects of three newly identified BRCA1 exon 11 variants (c.1019T>C, c.2363T>G, and c.3192T>C) on breast cancer susceptibility. Using computational predictions and experimental splicing assays, we evaluated their potential as pathogenic mutations. Our in silico analyses suggested that the c.2363T>G and c.3192T>C variants could impact both splicing and protein function, resulting...

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Identifiers

PMID: 38786046
DOI: 10.3390/cells13100824
PMCID: PMC11119505

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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