Noting that standard methods to identify mutations in BRCA1 and BRCA2 are expensive and only cover parts of the genes, Hilmi Ozcelik, Ph.D., from Mount Sinai Hospital in Toronto, and colleagues developed a next-generation sequencing method by applying long-range polymerase chain reaction and deep sequencing to identify mutations in both genes. They validated the method using genomic DNA from 12 patients with familial breast cancer.

The researchers found that their method identified all 19 distinct mutations in BRCA1 (of 51 total) and 35 distinct mutations in BRCA2 (of 63 total) detected by standard sequencing. Variants were also detected in introns and untranslated regions. There were no false-negative or false-positive results; the test was inexpensive (approximately $169.55 for 50× paired end sequencing); and the turnaround time was 12 working days.

"Given the low cost, fast turnaround time, improved accuracy, and the generation of more comprehensive genetic data sets, it is inevitable that genetic testing for BRCA1/2 will move toward next-generation sequencing," Ozcelik and colleagues conclude.

Abstract
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