Mutations of the PIK3CA Gene in Human Cancers

Phosphatidylinositol 3-kinases (PI3Ks) are lipid kinases that regulate signaling pathways important for neoplasia, including cell proliferation, adhesion, survival and motility. To determine if PI3Ks are genetically altered in tumorigenesis, JHU researchers sequenced PI3K genes in human cancers and corresponding normal tissue. JHU researchers have found that that mutant PIK3CA is likely to function as an oncogene in human cancers. This idea is consistent with previously reported alterations of members of the PI3K pathway, particularly inactivation of the PTEN tumor suppressor, whose function is to reverse the phosphorylation mediated by PI3K. Interestingly, reduplication or amplification of the chromosomal regions containing PIK3CA has been reported in some human cancers. Description (Set) Proposed Use (Set) This invention discloses the first described intragenic mutations in the PI3KCA gene, a gene that is found to be upregulated in many colorectal and other cancers. The clustering of mutations within PIK3CA could make the gene an excellent marker for early detection of cancers or for monitoring tumor progression. The mutations will also be useful for therapeutic purposes and could lead to the development of specific inhibitors of PIK3CA for the treatment of a large number of patients with these mutations. Patent (Set) WO 2005/091849; 1730303

Inventor(s): Vogelstein, Bert

Type of Offer: Licensing

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