体細胞変異プロファイリング

MassARRAY^® System*—a proven method for somatic mutation profiling 

Somatic mutation profiling has the potential to quickly identify which signaling pathways have been co-opted to drive the proliferation of a particular tumor type. Somatic mutation profiling of individual patients may also be a useful clinical research tool in oncology. The challenge in analyzing somatic mutations involves detecting tumor cell specific mutations in a background of wild-type genotypes from adjacent non-tumor cells.

The MassARRAY System, a MALDI-TOF mass spectrometry (MS) system for nucleic acid analysis, has been used for somatic mutation profiling in a number of published research studies. In one study, a group of clinical researchers at the Dana Farber Cancer Institute designed a somatic mutation panel to enable large scale screening of cancer samples with increased clinical sensitivity. The panel was used to screen >1,000 human tumor samples from 17 types of solid tumors. Relevant mutations were confirmed in 30% of the samples. Novel mutations were detected due to the higher sensitivity of this method. EGFR (Epidermal Growth Factor Receptor) mutations were detected in ~9% of the total DNA population¹. In a follow-up study, the platform was used to screen 400+ mutations in >30 oncogenes and tumor suppressors against ~900 clinical samples of which >35% had at least one of the mutations².

The MassARRAY System can be a highly valuable method for any research lab that needs to screen and validate somatic mutations as it provides: 

• A highly sensitive method for screening low abundant mutations
• A highly flexible method for researchers to design custom assays against any gene or genomic region
• Pre-designed, optimized panels such as the OncoCarta™ Panel*
• A highly adaptable method to run a varied numbers of samples or mutations 

参照資料

1. Thomas, R.K. et al. High-throughput oncogene mutation profiling in human cancer. Nature Genetics. 39, 283-294 (2007).
2. MacConaill, L. et al. Profiling Critical Cancer Gene Mutations in Clinical Tumor Samples, PLoS ONE, (2009) 4(11) 1-7.