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Article

Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing.

The Journal of molecular diagnostics : JMD - 1 Nov 2012

Michils Geneviève, Hollants Silke, Dehaspe Luc, Van Houdt Jeroen, Bidet Yannick, Uhrhammer Nancy, Bignon Yves-Jean, Vermeesch Joris R, Cuppens Harry, Matthijs Gert

Abstract excerpt

The aim of this study was to implement the massively parallel sequencing technology for diagnostic applications. We evaluated an amplicon-based method for the analysis of the BRCA1 and BRCA2 genes on the Roche 454 GS-FLX sequencer, to identify disease-causing mutations in breast and/or ovarian cancer patients. A first evaluation relied on the analysis of DNA fragments containing known mutations. Secondly, the...

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Source

Identifiers

PMID: 23034506
DOI: 10.1016/j.jmoldx.2012.05.006

Genes

BRCA1
BRCA2

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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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