CARLSBAD, Calif. and UTRECHT, The Netherlands Nov. 12, 2013 One of the most comprehensive studies of genetic mutations in ovarian cancer was published today, demonstrating an unprecedented level of genetic variation that exists in both primary tumors and metastatic lesions of ovarian cancer. The study highlights potential new pathways for therapeutic intervention and suggests that sampling and sequencing of multiple disease sites may be required for effective targeted treatments.
The paper, titled "Genomic and transcriptomic plasticity in treatment-nave ovarian cancer," is available online at the journal Genome Research and is authored by scientists at the University Medical Center Utrecht in The Netherlands and Life Technologies Corporation in Carlsbad, Calif. With an annual global incidence of 220,000 and mortality of 140,0001, ovarian cancer is a leading cause of cancer deaths in women, making it a disease in urgent need of improved treatment.
The researchers examined a total of 27 archived tumor biopsy samples, both from primary tumors as well as distant metastatic sites, gathered from three women with late stage (IIIC/IV) ovarian cancer. Tumor samples and matched normal tissue samples were analyzed using a variety of methods, including transcriptome and mate-pair sequencing and several targeted gene sequencing panels. Sequencing was conducted on the Applied Biosystems SOLiD 5500xL and Ion Personal Genome Machine (PGM), both from Life Technologies, using Life's Ion AmpliSeq Comprehensive Cancer Panel, a panel of more than 400 genes that have been implicated in cancer. This study represents the first peer-reviewed, scientific publication employing this panel of 409 oncogenes.
The sequencing data revealed a striking degree of genetic heterogeneity within each individual's cancer. This was evident from profiles of coding mutations, genomic structural variation and gene expression changes. Of note, one of the individuals displayed
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