Personalized Medicine Analysis Identifies Novel Mutation That Gives PTEN Protein New Tumor-Promoting Ability, While Preserving Its Normal Tumor Suppressor Activity

In a “personalized medicine” study that presents a framework for interpreting a single patient’s genome, collaborating scientists at the Stanford University School of Medicine, UCSF, Gladstone Institutes, and Phillipps-Universitat Marburg, have identified a novel point mutation in the PTEN tumor suppressor gene that allows the altered PTEN protein product (image shows structure of normal PTEN protein) to retain its known suppressor function, while gaining new tumor-promoting activities. In addition, the scientists have demonstrated that the tumor-promoting activities of the mutated PTEN protein can be substantially mitigated by chemical inhibitors of PI3K (phosphoinositide 3-kinase). The researchers believe that their work suggests a new role for PTEN, as well as other tumor suppressors, in cancer formation, and also reveals the potential wealth of biological information currently underexploited by the lack of systematic approaches for cancer genome interpretation services. The authors believe that their results “demonstrate a new dysfunction paradigm for PTEN cancer biology and suggest a potential framework for the translation of genomic data into actionable clinical strategies for targeted patient therapy.” The new PTEN mutation and the systematic analyses that led to its discovery and characterization are described in an online open-access article published on October 26, 2015 in PNAS.
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