Mutations of the PIK3CA gene in human cancers
AssigneeThe Johns Hopkins University
InventorsYardena Samuels, Victor Velculescu, Kenneth W. Kinzler, Bert Vogelstein
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Abstract
Phosphatidylinositol 3-kinases (PI3Ks) are known to be important regulators of signaling pathways. To determine whether PI3Ks are genetically altered in cancers, we analyzed the sequences of the P13K gene family and discovered that one family member, PIK3CA, is frequently mutated in cancers of the colon and other organs. The majority of mutations clustered near two positions within the P13K helical or kinase domains. PIK3CA represents one of the most highly mutated oncogenes yet identified in human cancers and is useful as a diagnostic and therapeutic target.
Claims63
A method of assessing cancer in a body sample of a human suspected of having a cancer, comprising the steps of:
- determining presence of a non-synonymous, intragenic mutation in a PIK3CA coding sequence in the body sample, wherein a wild-type PIK3CA coding sequence comprises the sequence shown in SEQ ID NO:2;
- identifying the human as likely to have cancer if the presence of a non-synonymous, intragenic mutation in PIK3CA coding sequence is determined in the body sample.
A method of characterizing a cancer in a body sample of a human,
- comprising the steps of:
- testing the body sample to determine the presence of a non-synonymous, intragenic mutation in a PIK3CA coding sequence in the body sample, wherein a wild-type PIK3CA coding sequence comprises the sequence shown in SEQ ID NO:2.
Dependencies are inferred from the claim text.