Genetic Analysis News You Can Use
Next Generation Genetic Analysis System
Sequenom launched its next generation genetic analysis system, the MassARRAY® Analyzer 4 system. This new high performance nucleic analysis platform can be configured to address the needs of both high- and low-throughput labs, and provides improved sensitivity, faster time-to-results, and the flexibility to analyze just about any combination of genetic markers and samples. The MassARRAY Analyzer 4 system is designed to empower the researcher to advance findings from basic and translational studies towards establishing clinical utility.
A rapid, sensitive, reproducible and cost-effective method for mutation profiling of colon cancer and metastatic lymph nodes published online in BMC Cancer details a high throughput, cost-effective and simple methodology for the detection of clinically relevant hot spot mutations in colon cancer.
Primary results from the publication:
- Analysis of 239 colon cancers and 39 metastatic lymph nodes from an NSABP clinical trial
- Seven genes and 26 mutation sites quickly identified with the OncoCarta Panel v1.0
- Mutation frequencies were 43.5% for KRAS, 20.1% for PIK3CA, and 12.1% for BRAF and highly concordant with COSMIC database annotation
- Infrequent mutations in NRAS, AKT1, ABL1, and MET were also detected
- Mutation profiling of metastatic lymph nodes and their corresponding primary tumors showed 89.7% concordance
Somatic mutations have long been implicated in cancer cells. Mutation profiling may quickly identify signaling pathways that drive proliferation of a specific human tumor type to help guide therapeutic options. Sequenom offers a highly sensitive, accurate
MALDI-TOF mass spectrometry method for use with any somatic mutation to advance clinical research and translational medicine.
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General Transcription Factor Binding at CpG Islands in Normal Cells Correlates with Resistance to De novo DNA Methylation in Cancer Cells
Claudia Gebhard, C., Chris Benner, C. et. al., Cancer Res; 70(4); 1398–407, 2010
To test the hypothesis that specific sequence motifs are associated with the DNA methylation states of CpG islands in normal and malignant cells, the researchers used Methyl-CpG immunoprecipitation to generate comparative methylation profiles of healthy and malignant cells (acute leukemia and colorectal cancer) across the genome. MCIp was followed by microarray analysis, and results validated by EpiTYPER using 1,150 amplicons that covered 140 genes and ~13,500 CpG sites. Several sequences in the resistant CpG islands were discovered that resemble consensus binding sites for general transcription factors. A model for DNA methylation protection is presented, where two or more consensus sites for general TFs create a protective chromatin environment. The findings also imply that the aberrant methylation patterns in cancer cells may at least in part result from a “loss of protection.”