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Article

The deletion of exons 3-5 of BRCA1 is the first founder rearrangement identified in breast and/or ovarian cancer Spanish families.

Familial cancer - 1 Mar 2013

Palanca Sarai, de Juan Inmaculada, Perez-Simó Gema, Barragán Eva, Chirivella Isabel, Martínez Eduardo, Fuster Oscar, Bolufer Pascual

Abstract excerpt

We recently described a novel g.8097_22733del14637 deletion encompassing exons 3-5 in BRCA1 gene. This rearrangement was detected in 3 of 15 (20 %) breast and/or ovarian cancer families of Eastern Spain. This finding made us suspect that the newly identified deletion could be a founder mutation. To confirm this hypothesis we studied 18 subjects belonging to the three families under study, 11 deletion carriers and...

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Source

Identifiers

PMID: 23117300
DOI: 10.1007/s10689-012-9579-6

Genes

BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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