PIK3CAGene Mutations and Amplifications in Chinese Patients With Ovarian Clear Cell Carcinoma

Abstract

The role of genetic alterations in PIK3CA gene has not been fully explored in ovarian clear cell carcinoma (OCCC). The present study was undertaken to assess mutations and amplifications of exons 9 and 20 of PIK3CA in 51 Chinese OCCC patients. Activating missense mutations of PIK3CA were found in nine (17.6%) cases. One novel mutation T544P was identified in exon 9 which can increase AKT phosphorylation in cell culture. Amplifications of PIK3CA were observed in six cases (11.8%). PIK3CA mutations and amplifications are mutually exclusive. Our study demonstrates relatively low frequency of PIK3CA mutations and amplifications in OCCC.

Significance of EGFR/HER2 Expression and PIK3CA Mutations in Giant Cell Tumour of Bone Development

“…The missense mutation does not change the protein activity, and we could speculate that E545A mutation in PIK3CA gene is not oncogenic in GCTB despite great evidences previously reported in other cancer models. Indeed, previous studies were pretending that E545A mutation is described as an oncogenic mutation in different types of cancer, such as breast and ovarian (Table 3) [73,74]. Furthermore, Gymnopoulos et al showed that mutations in PIK3CA, including E545A, gained function-induced oncogenic transformation (Table 3) (2007) [75].…”