Researchers from the University of Washington report in the Journal of Molecular Diagnostics that ColoSeq, a sequencing-based test to find genes associated with colon cancer risk that is offered by the institute, can uncover mutations related to Lynch and polyposis syndromes. In this validation study, the researchers found that ColoSeq could identify pathogenic mutations, including SNVs, small indels, and large CNVs. "We have developed and validated a comprehensive and cost-effective test for hereditary colon cancer syndromes that uses solution-based targeted capture and next-generation sequencing," the researchers write, adding that they "believe that ColoSeq will streamline and simplify genetic testing in patients with suspected hereditary colon cancer syndromes, sparing patients from needing to have multiple rounds of expensive genetic testing to establish a diagnosis."
Also in the Journal of Molecular Diagnostics, the University of the Mediterranean's Christine Formisano-Trézin and her colleagues discuss their method for the absolute quantification of microRNAs using real-time PCR. "We present an alternative method for miRNA cloning in which an in vitro synthesized molecule is cloned instead of a PCR product," Formisano-Trézin et al. write. "MiRNA hsa-let-7b is used as the model to demonstrate the proof of principle and confirmed by using a second miRNA (hsa-mir-141)."