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Article

Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families.

BMC medical genetics - 29 Jun 2007

Filippini Sandra, Blanco Ana, Fernández-Marmiesse Ana, Alvarez-Iglesias Vanesa, Ruíz-Ponte Clara, Carracedo Angel, Vega Ana

Abstract excerpt

BACKGROUND: It is estimated that 5-10% of all breast cancer are hereditary and attributable to mutations in the highly penetrance susceptibility genes BRCA1 and BRCA2. The genetic analysis of these genes is complex and expensive essentially because their length. Nevertheless, the presence of recurrent and founder mutations allows a pre-screening for the identification of the most frequent mutations found in each...

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Source

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Identifiers

PMID: 17603881
DOI: 10.1186/1471-2350-8-40
PMCID: PMC1924843

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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