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Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain).

Clinical genetics - 1 Oct 2024

Pitiot Ana S, Blay Pilar, Díaz-Navarro Ander, Fernández-Arrojo Sara, Romero Rosa, Álvarez-Eguiluz Ángel, Alvarado Marta G, Álvarez Nieves, García-Teijido Paula, Fernández Yolanda, Palacio Isabel, Puente Xose S, Balbín Milagros

Abstract excerpt

The singular BRCA1/2 mutational landscape of Asturias is updated 10 years after the first study. We analyzed BRCA1 and BRCA2 pathogenic variants in 1653 index cases. In total, 238 families were identified to carry a pathogenic variant, 163 families in BRCA1 and 75 families in BRCA2. This yielded a prevalence rate of 14.4%. Seven recurrent variants were found accounting for 55% of the cases. Among them, three are...

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Identifiers

PMID: 38922859
DOI: 10.1111/cge.14580

Genes

BRCA1
BRCA2

Variants

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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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