Genotyping Concordance in DNA Extracted from Formalin-Fixed Paraffin Embedded (FFPE) Breast Tumor and Whole Blood for Pharmacogenetic Analyses

Cancer pharmacogenetic studies have used archival tumor samples as a DNA source when germline DNA was unavailable. Genotyping DNA extracted from formalin-fixed paraffin embedded tumors (FFPE-T) may be inaccurate compared to that from normal leukocytes due to FFPE storage, tumor genetic aberrations, and/or insufficient DNA extraction. Our objective was to assess the extent and source of genotyping inaccuracy from FFPE-T DNA and demonstrate analytical validity of FFPE-T genotyping of candidate single nucleotide polymorphisms (SNPs) for pharmacogenetic analyses.

Source: Molecular Oncology - July 28, 2015 Category: Cancer & Oncology Authors: Daniel L. Hertz, Kelley M. Kidwell, Jacklyn N. Thibert, Christina Gersch, Meredith M. Regan, Todd C. Skaar, N.Lynn Henry, Daniel F. Hayes, Catherine H. Van Poznak, James M. Rae Source Type: research