Hopkins-led research team takes gene mutation detection in blood to the next level

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Sumary of Hopkins-led research team takes gene mutation detection in blood to the next level:

  • Next-generation gene sequencing (NGS) technologies — in which millions of DNA molecules are simultaneously but individually analyzed — theoretically provides researchers and clinicians the ability to noninvasively identify mutations in the blood stream..
  • Johns Hopkins Kimmel Cancer Center researchers developed a new technology to overcome the inefficiencies and high error rates common among next-generation sequencing techniques that have previously limited their clinical application..
  • To correct for these sequencing errors, the research team from the Ludwig Center and Lustgarten Laboratory at the Johns Hopkins Kimmel Cancer Center developed SaferSeqS (Safer Sequencing System), a major improvement to widely used technologies based on a previous technology called SafeSeqS (Safe Sequencing System) that Hopkins investigators invented a decade ago..
  • The new SaferSeqS technology detects rare mutations in blood in a highly efficient manner and reduces the error rate of commonly used technologies for evaluating mutations in the blood more than 100-fold..
  • The presence of a mutation in a clinical sample could be an early indicator that a person has developed cancer, says study lead author and M.D./Ph.D..
  • A small portion of cancer cells shed their DNA into the bloodstream, allowing their mutations to be detected via blood sample..
  • Detecting such mutations in blood rather through surgical biopsy of a cancerous tissue is called “a liquid biopsy.”.
  • Such blood-based tests have the potential to detect cancer at an earlier stage, when it can be put into remission by surgery and/or chemotherapy..
  • The challenge, Cohen explains, is that the vast majority of DNA present in the blood sample is shed by noncancer cells, and only a tiny fraction of the DNA is derived from the tumor..
  • In patients with relatively early-stage cancers, a 10 mL blood sample will only contain a handful of molecules with a mutation..
  • “To detect cancers when they have the best chance of being cured requires a detection method that will pick up cancer signals that are present at extremely low frequencies,”.
  • The researchers addressed this challenge, with SaferSeqS, by efficiently tagging both strands of each original molecule present in an individual’s blood with a unique barcode..
  • The investigators use the structural redundancy of the double-stranded DNA molecule to distinguish real mutations from errors, an approach called duplex sequencing..
  • “What makes SaferSeqS unique is the efficient tagging of both strands of the majority of DNA molecules circulating in the blood, the low error rate achieved through analysis of both strands of these DNA molecules, and the manner in which the molecules of interest are enriched prior to sequencing….

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