The mutational profile of sporadic epithelial ovarian carcinoma.

摘要

Mutations occurring in sporadic epithelial ovarian carcinomas are reviewed and their functional significance in terms of prognosis and prediction of anticancer drug activity are discussed. Alterations in the BRCA1/2 genes, TP53, PTEN, PI3Kinase, KRAS/BRAF and CTNNB1 are described. TP53 is likely to be a driver in high grade serous tumours, but is less useful than BRCA status in prediction of response to the platinum or PARPi agents. It is expected that mutation profiling will become integrated into current morphological/immunohistochemical primary diagnostic assessment of tumours once the cost and quality control issues of the technology are addressed.