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晚期卵巢癌中的PIK3CA突变

PIK3CA mutations in advanced ovarian carcinomas.

作者信息

Wang Yun, Helland Aslaug, Holm Ruth, Kristensen Gunnar B, Børresen-Dale Anne-Lise

机构信息

Department of Gynecologic Oncology, The Norwegian Radium Hospital, N-0310, Oslo, Norway.

出版信息

Hum Mutat. 2005 Mar;25(3):322. doi: 10.1002/humu.9316.

Abstract

PIK3CA belongs to the phosphatidylinositol 3-kinases (PI3Ks) family, which play an important role in proliferation, adherence, transformation and cell survival through the PI3K/AKT signaling pathway. Somatic activating mutations of this gene have recently been detected in several types of cancers. In the present study, 109 advanced ovarian carcinomas were analyzed for PIK3CA mutations in exon 9 and exon 20 by direct sequencing. Activating missense mutations were observed in 4 of the 109 tumors in addition to one variant leading no change of the PIK3CA protein. Two of the cases with mutations were mucinous and clear cell tumors, suggesting that PIK3CA mutations are more common in these rare histological types.

摘要

PIK3CA属于磷脂酰肌醇3激酶(PI3K)家族,该家族通过PI3K/AKT信号通路在细胞增殖、黏附、转化及存活中发挥重要作用。最近在几种癌症中检测到该基因的体细胞激活突变。在本研究中,通过直接测序分析了109例晚期卵巢癌中PIK3CA基因第9外显子和第20外显子的突变情况。除了一个PIK3CA蛋白无变化的变异外,在109例肿瘤中有4例观察到激活错义突变。其中2例发生突变的病例为黏液性和透明细胞肿瘤,提示PIK3CA突变在这些罕见的组织学类型中更为常见。

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