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Article

Identification of a novel BRCA1 large genomic rearrangement in a Spanish breast/ovarian cancer family.

Breast cancer research and treatment - 1 Nov 2008

Palanca Suela Sarai, Esteban Cardeñosa Eva, Barragán González Eva, Oltra Soler Silvestre, de Juan Jiménez Inma, Chirivella González Isabel, Segura Huerta Angel, Guillén Ponce Carmen, Martínez de Dueñas Eduardo, Bolufer Gilabert Pascual

Abstract excerpt

BACKGROUND: Alterations in BRCA1 gene are responsible for the majority of hereditary breast and/or ovarian cancers. However, the frequency of detected germline mutations is lower than expected by linkage analysis. Standard PCR-based screening methods are mainly used for detecting mutations, but the large genomic rearrangements are commonly overlooked. The purpose of this study was to confirm and characterize a...

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Source

Identifiers

PMID: 18060491
DOI: 10.1007/s10549-007-9839-6

Genes

BRCA1
BRCA2

Provenance

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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