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散发性上皮性卵巢癌的突变特征。

The mutational profile of sporadic epithelial ovarian carcinoma.

机构信息

Department of Molecular and Clinical Cancer Medicine, Institute of Translational Medicine, University of Liverpool, L693BX Liverpool, UK.

出版信息

Anticancer Res. 2011 Aug;31(8):2661-8.

PMID:21778320
Abstract

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.

摘要

本文回顾了散发性上皮性卵巢癌中发生的突变,并讨论了其在预后和预测抗癌药物活性方面的功能意义。描述了 BRCA1/2 基因、TP53、PTEN、PI3K 激酶、KRAS/BRAF 和 CTNNB1 的改变。TP53 可能是高级别浆液性肿瘤的驱动基因,但在预测对铂类或 PARPi 药物的反应方面,其作用不如 BRCA 状态有用。一旦解决了该技术的成本和质量控制问题,预计突变分析将成为肿瘤当前形态/免疫组织化学初步诊断评估的一部分。

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