Infrequent mutations of the PPP2R1A and PPP2R1B genes in patients with ovarian cancer.
Infrequent mutations of the PPP2R1A and PPP2R1B genes in patients with ovarian cancer.
复制标题
DOI：
10.3892/mmr.2013.1416
复制
发表时间：
2013-06
影响因子：
3.4
通讯作者：
Feng Wang;Y. Zou;Faying Liu;Xiao-hong Yu;Huang Huang-Huang;N. Zhang;Ying-ying Qi;Rong Liu;Xiao-yan Liu;Jia Chen;Ouping Huang;M. He
中科院分区：
文献类型：
--
作者：
Feng Wang;Y. Zou;Faying Liu;Xiao-hong Yu;Huang Huang-Huang;N. Zhang;Ying-ying Qi;Rong Liu;Xiao-yan Liu;Jia Chen;Ouping Huang;M. He
蛋白磷酸酶2，调节亚基A，α（PPP2R1A）和β（PPP2R1B）是异源三聚体蛋白磷酸酶2（PP2A）全酶的旁系同源亚基，催化靶底物蛋白的去磷酸化。亚型特异性PPP2R1A突变经常在卵巢癌和子宫内膜癌中观察到。在人类恶性肿瘤中经常观察到旁系同源基因的突变。因此，本研究旨在分析原发性和继发性卵巢癌患者中旁系同源PPP2R1A和PPP2R1B基因的突变频率。通过直接测序分析了251例原发性（n=234）和继发性（n=17）卵巢癌患者PPP2R1A和PPP2R1B突变的存在。对于PPP2R1A，在37例原发性卵巢恶性肿瘤患者中的1例（2.7%）中鉴定出杂合的体细胞突变（c.771G>T，p.W257C）。突变样本是一名46岁的女性，她也被诊断患有良性卵巢异位子宫内膜异位症。在其余250例卵巢癌患者中未检测到PPP2R1A突变。对于PPP2R1B，在我们的样品中未检测到突变。本研究的结果表明，PPP2R1A突变在中国卵巢癌患者中较欧美患者少见。此外，我们的研究还支持了先前的观察结果，即PPP2R1B突变在卵巢癌中不存在，表明PPP2R1B突变并不积极参与卵巢癌的发病机制。
Protein phosphatase 2, regulatory subunit A, α (PPP2R1A) and β (PPP2R1B) are paralogous subunits of the heterotrimeric protein phosphatase 2 (PP2A) holoenzyme that catalyzes the dephosphorylation of target substrate proteins. Subtype‑specific PPP2R1A mutations have been frequently observed in ovarian and endometrial cancer. Mutations in the paralogous genes were frequently observed in human malignancies. Thus, the present study aimed to analyze the mutation frequencies of the paralogous PPP2R1A and PPP2R1B genes in patients with primary and secondary ovarian cancer. A total of 251 patients with primary (n=234) and secondary (n=17) ovarian cancer were analyzed for the presence of PPP2R1A and PPP2R1B mutations by direct sequencing. For PPP2R1A, a heterozygous, somatic mutation (c.771G>T, p.W257C) was identified in 1 out of 37 patients (2.7%) with primary ovarian endometrioid carcinoma. The mutant sample was that of a 46‑year‑old female, who was also diagnosed with ectopic endometriosis in the benign ovary. No PPP2R1A mutations were detected in the remaining 250 patients with ovarian cancer. For PPP2R1B, no mutations were detected in our samples. The results of this study suggested that PPP2R1A mutations are less common in Chinese patients with ovarian cancer when compared with European and American patients. Furthermore, our study also supported previous observations that PPP2R1B mutations were absent in ovarian cancer, suggesting that PPP2R1B mutations are not actively involved in the pathogenesis of ovarian cancer.