This Week in the Journal of Molecular Diagnostics

In a Journal of Molecular Diagnostics paper published online in advance this week, the University of Toronto's Hilmi Ozcelik and his colleagues show that a next-generation sequencing-based approach — based on long-range PCR and deep sequencing — is suitable for BRCA1/2 mutation analysis. "The first-generation of BRCA1/2 mutation analysis targeted only the coding exons and has implicated protein-truncating mutations — indel, nonsense — in BRCA1/2 inactivation," Ozcelik et al. write. In this study, they describe and validate their next-generation sequencing-based approach using genomic DNA from 12 familial breast cancer patients. "NGS successfully identified all 19 distinct — 51 total — BRCA1 and 35 distinct — 63 total — BRCA2 sequence alterations detectable by the Sanger sequencing, with no false-negative or positive results," the researchers add. "These results illustrate that NGS can provide comprehensive genetic information more quickly, accurately, and at a lower cost than conventional approaches, and we propose NGS to be a more effective method forBRCA1/2 mutational analysis."

The Sample's sister publication, Cancer Minute, has more on this study here.