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Article

Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.

BioMed research international - 1 Jan 2014

Ruiz Anna, Llort Gemma, Yagüe Carmen, Baena Neus, Viñas Marina, Torra Montse, Brunet Anna, Seguí Miquel A, Saigí Eugeni, Guitart Miriam

Abstract excerpt

High throughput methods such as next generation sequencing are increasingly used in molecular diagnosis. The aim of this study was to develop a workflow for the detection of BRCA1 and BRCA2 mutations using massive parallel sequencing in a 454 GS Junior bench top sequencer. Our approach was first validated in a panel of 23 patients containing 62 unique variants that had been previously Sanger sequenced....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25136594
DOI: 10.1155/2014/542541
PMCID: PMC4098986

Genes

BRCA1
BRCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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