Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

doi:10.1038/ejhg.2014.16

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Article

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

European journal of human genetics : EJHG - 1 Nov 2014

Castéra Laurent, Krieger Sophie, Rousselin Antoine, Legros Angélina, Baumann Jean-Jacques, Bruet Olivia, Brault Baptiste, Fouillet Robin, Goardon Nicolas, Letac Olivier, Baert-Desurmont Stéphanie, Tinat Julie, Bera Odile, Dugast Catherine, Berthet Pascaline, Polycarpe Florence, Layet Valérie, Hardouin Agnes, Frébourg Thierry, Vaur Dominique

Abstract excerpt

To optimize the molecular diagnosis of hereditary breast and ovarian cancer (HBOC), we developed a next-generation sequencing (NGS)-based screening based on the capture of a panel of genes involved, or suspected to be involved in HBOC, on pooling of indexed DNA and on paired-end sequencing in an Illumina GAIIx platform, followed by confirmation by Sanger sequencing or MLPA/QMPSF. The bioinformatic pipeline...

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Identifiers

PMID: 24549055
DOI: 10.1038/ejhg.2014.16
PMCID: PMC4200427

Genes

BRCA1
BRCA2
ATM
BARD1
CDH1
CHEK2
MLH3
MSH2
PALB2
PMS1
PMS2
RAD50

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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