Allison W Kurian, Emily E Hare, Meredith A Mills, Kerry E Kingham, Lisa McPherson, Alice S Whittemore, Valerie McGuire, Uri Ladabaum, Yuya Kobayashi, Stephen E Lincoln, Michele Cargill, James M Ford
PURPOSE: Multiple-gene sequencing is entering practice, but its clinical value is unknown. We evaluated the performance of a customized germline-DNA sequencing panel for cancer-risk assessment in a representative clinical sample. METHODS: Patients referred for clinical BRCA1/2 testing from 2002 to 2012 were invited to donate a research blood sample. Samples were frozen at -80° C, and DNA was extracted from them after 1 to 10 years. The entire coding region, exon-intron boundaries, and all known pathogenic variants in other regions were sequenced for 42 genes that had cancer risk associations...
July 1, 2014: Journal of Clinical Oncology