Article
Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations.
Human mutation - 1 Mar 2011
De Leeneer Kim, Hellemans Jan, De Schrijver Joachim, Baetens Machteld, Poppe Bruce, Van Criekinge Wim, De Paepe Anne, Coucke Paul, Claes Kathleen
Abstract excerpt
This study describes how the new massive parallel sequencing technology can be implemented in a diagnostic setting for the breast cancer susceptibility genes (BRCA1 and BRCA2). The throughput was maximized by increasing uniformity in coverage, obtained by a multiplex approach, which outperformed pooling of singleplex PCRs. We evaluated the sensitivity by analysis of 133 distinct sequence variants; three (2%)...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.