Mutation Detection Services

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KRas/BRaf mutation detection: utilities & technical challenges

KRas codon 12/13 and BRaf codon 600/601 mutations are activating mutations that make the KRas and BRaf proteins constitutively active.  They occur at different frequencies in various tumors.  For example, KRas codon 12/13 mutations can be detected from 40-50% colon cancers, >90% pancreatic cancers, and some lung and ovarian cancers.  BRaf mutations are present in ~50% melanomas, nearly all of the hairy cell leukemia cases, and <10% of colon cancers.  Testing KRas and BRaf mutations is important in guiding selection of oncological therapeutics.  Specifically, anti-EGFP monoclonal antibody drugs should not be used when the tumor is positive for KRas or BRaf mutations, while Raf kinase inhibitors are preferably used to treat BRaf mutation-positive tumors.

Major technical challenges include:

  • High specifcity: distinguishing mutations from the wild type (WT), and distiguishing various mutations.  Both KRas and BRaf mutations are complex mutations in the sense that mutliple variants are present, making detection much more difficult.  To make matters worse, some tumors may harbour two different (mixed) mutations.  Tumors with different mutation variants may respond differently to treatment and/or have distinct disease prognosis.

  • High sensitivity.  As the tumor samples often do not contain 100% cancerous tissue, and also because tumor tissues are heterogeneous, the percentage of mutated genes (if present) can be quite low; thus a highly sensitive detection method is usually preferred. 

We at Reniguard have developed mutation testing assays that meet these challenges.   Some of our assays are in the form of reagent kits.  Our quality services and kits save our clients precious time.


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