title: Mutation and copy number detection in human cancers using a custom genotyping assay.
abstract: Identification of biomarkers for positive and negative predictors of response to cancer therapeutics can help direct clinical strategies. However, challenges with tissue availability and costs are significant limiting factors for diagnostic assays. To address these challenges, we have customized a high-throughput single nucleotide polymorphism genotyping assay with the objective of simultaneously surveying known somatic mutations and copy number alterations for translational studies in cancer. As constructed, this assay can interrogate 376 known somatic mutations and quantify copy number alterations of genes commonly implicated in tumorigenesis or progression. Validation of this assay on a panel of 321 cell lines demonstrates sensitivity to accurately detect mutations, robust accuracy in the presence of infiltrating normal tissue, and the ability to detect both DNA copy number amplifications and deletions. This technology, with its high sensitivity, small DNA requirements, and low costs is an attractive platform for biomarker exploration in cancer.
authors: GlaxoSmithKline Oncology Research, Cancer Metabolism, 1250 Collegeville Road, Collegeville, PA 19426, USA christopher.moy@gsk.com
authors: Christopher
authors: C
authors: Moy
authors: Muhammad U
authors: MU
authors: Aziz
authors: Joel
authors: J
authors: Greshock
authors: Stephen
authors: S
authors: Szabo
authors: Elizabeth
authors: E
authors: McNeil
authors: Junping
authors: J
authors: Jing
authors: Theresa
authors: T
authors: Conway
authors: Yan
authors: Y
authors: Degenhardt
authors: Richard
authors: R
authors: Wooster
authors: Kurtis
authors: K
authors: Bachman