Somatic mutation and gain of copy number of PIK3CA in human breast cancer.

作者: Guojun Wu , Mingzhao Xing , Elizabeth Mambo , Xin Huang , Junwei Liu

DOI: 10.1186/BCR1262

关键词: Copy-number variationCancer researchMolecular biologyFluorescence in situ hybridizationCancerColorectal cancerMutationSurgical oncologyBiologyGermline mutationBreast cancer

摘要: Phosphatidylinositol 3-kinases (PI3Ks) are a group of lipid kinases that regulate signaling pathways involved in cell proliferation, adhesion, survival, and motility. Even though PIK3CA amplification somatic mutation have been reported previously various kinds human cancers, the genetic change breast cancer has not clearly identified. Fifteen lines 92 primary tumors (33 with matched normal tissue) were used to check gene copy number PIK3CA. For study, we specifically checked exons 1, 9, 20, which be hot spots colon cancer. analysis number, quantitative real-time PCR fluorescence situ hybridization. We also treated several cells inhibitor LY294002 compared apoptosis status without mutation. identified 20.6% (19 92) 33.3% (5 15) frequency lines, respectively. found 8.7% (8 harbored gain number. Only four cases this study contained both an increase In addition, correlated Akt phosphorylation some inhibition PIK3CA-induced increased Somatic rather than is frequent alteration contributes progression. The clustered mutations within make it attractive molecular marker for early detection promising therapeutic target

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