Sensitive Quantification of Somatic Mutations Using Molecular Inversion Probes
Rena Hirani, Ashley R Connolly, Lisa Putral, Alexander Dobrovic, Matt Trau
Analytical Chemistry | AMER CHEMICAL SOC | Published : 2011
Somatic mutations in DNA can serve as cancer specific biomarkers and are increasingly being used to direct treatment. However, they can be difficult to detect in tissue biopsies because there is often only a minimal amount of sample and the mutations are often masked by the presence of wild type alleles from nontumor material in the sample. To facilitate the sensitive and specific analysis of DNA mutations in tissues, a multiplex assay capable of detecting nucleotide changes in less than 150 cells was developed. The assay extends the application of molecular inversion probes to enable sensitive discrimination and quantification of nucleotide mutations that are present in less than 0.1% of a ..View full abstract
R.H. and A.R.C. contributed equally to this work. We gratefully acknowledge funding and support from Cancer Australia and the NBCF through a National Breast Cancer Research Grant Program to M.T. and A.D. The authors would like to thank Mr. James Bates for preparation of the optically encoded microbeads.