A Clinically Validated Diagnostic Second-Generation Sequencing Assay for Detection of Hereditary BRCA1 and BRCA2 Mutations

Individuals who inherit mutations in BRCA1 or BRCA2 are predisposed to breast and ovarian cancers. However, identifying mutations in these large genes by conventional dideoxy sequencing in a clinical testing laboratory is both time consuming and costly, and similar challenges exist for other large g...

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Veröffentlicht in:	The Journal of molecular diagnostics : JMD 2013-11, Vol.15 (6), p.796-809
Hauptverfasser:	Bosdet, Ian E, Docking, T. Roderick, Butterfield, Yaron S, Mungall, Andrew J, Zeng, Thomas, Coope, Robin J, Yorida, Erika, Chow, Katie, Bala, Miruna, Young, Sean S, Hirst, Martin, Birol, Inanc, Moore, Richard A, Jones, Steven J, Marra, Marco A, Holt, Rob, Karsan, Aly
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Sequence DNA Mutational Analysis - methods Gene Frequency Gene Library Genes, BRCA1 Genes, BRCA2 Hereditary Breast and Ovarian Cancer Syndrome - genetics High-Throughput Nucleotide Sequencing Humans Pathology Prospective Studies Sensitivity and Specificity
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