A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients

Gene panels for hereditary breast and ovarian cancer risk assessment are gaining acceptance, even though the clinical utility of these panels is not yet fully defined. Technical questions remain, however, about the performance and clinical interpretation of gene panels in comparison with traditional tests. We tested 1105 individuals using a 29-gene next-generation sequencing panel and observed 100% analytical concordance with traditional and reference data on >750 comparable variants. These 750 variants included technically challenging classes of sequence and copy number variation that together represent a significant fraction (13.4%) of the pathogenic variants observed.

http://jmd.amjpathol.org/article/S1525-1578(15)00128-2/abstract?rss=yes

Source: Journal of Molecular Diagnostics - July 21, 2015 Category: Pathology Authors: Stephen E. Lincoln, Yuya Kobayashi, Michael J. Anderson, Shan Yang, Andrea J. Desmond, Meredith A. Mills, Geoffrey B. Nilsen, Kevin B. Jacobs, Federico A. Monzon, Allison W. Kurian, James M. Ford, Leif W. Ellisen Tags: Regular Article Source Type: research