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筛查沙特卵巢癌女性中的 突变。

Screening for mutations among Saudi women with ovarian cancer.

机构信息

Department of Forensic Sciences, College of Criminal Justice, Naif Arab University of Security Sciences, Riyadh, Saudi Arabia.

Department of Biology, College of Science and Humanities, Prince Sattam bin Abdulaziz University, Alkarj, Saudi Arabia.

出版信息

J Obstet Gynaecol. 2021 Oct;41(7):1127-1133. doi: 10.1080/01443615.2020.1839871. Epub 2021 Jan 21.

Abstract

The study aimed to screen for gene mutations among Saudi women with Ovarian Cancer. The study included 298 Saudi women with epithelial ovarian cancers (EOC). DNA sequence analysis was employed to screen for the mutations. DNA sequence analysis of a coding region of exon 9 and 20 of gene revealed mutations in 37/298 (12.4%) EOC patients. About 21/37(56.8%) somatic mutations were identified in exons 9, and 16/37(43.2%) in exon 20. All analysed mutations were missense mutations, the frequencies of which varied from 2.7% to 43.2%. mutation was found to be significantly associated with age ( = .023), grade ( = .001) and histological types ( = .032). Only 6.6% of serous carcinomas and 3.8% of endometrioid had mutation. The Mutated gene was significantly involved in the pathogenesis of EOC among Saudi women. gene mutation and overexpression represent important clinical implications for diagnosis, and prognosis, which can be utilised for better EOC management.Impact statement The detailed molecular and genetic phenomenon underlying the progression of these tumours is still unclear. Recently, the pathogenesis of ovarian cancer has been attributed to mutations of Mutation in gene leads to altered PI3K/AKT signalling pathways responsible for the progression of the epithelial ovarian cancer. The Mutated gene was significantly involved in the pathogenesis of EOC among Saudi women. gene mutation and overexpression represent important clinical implications for diagnosis, and prognosis, which can be utilised for better EOC management.

摘要

这项研究旨在筛选沙特卵巢癌女性中的基因突变。该研究纳入了 298 名沙特上皮性卵巢癌(EOC)患者。采用 DNA 序列分析筛选突变。对基因外显子 9 和 20 的编码区进行 DNA 序列分析,发现 298 例 EOC 患者中有 37 例(12.4%)存在基因突变。约 21/37(56.8%)体细胞突变发生在外显子 9 中,16/37(43.2%)发生在外显子 20。所有分析的突变均为错义突变,其频率从 2.7%到 43.2%不等。研究发现突变与年龄(= 0.023)、分级(= 0.001)和组织学类型(= 0.032)显著相关。只有 6.6%的浆液性癌和 3.8%的子宫内膜样癌有突变。突变基因在沙特女性的 EOC 发病机制中起重要作用。基因突变和过表达代表着对诊断和预后的重要临床意义,可用于更好的 EOC 管理。

影响说明

这些肿瘤进展的详细分子和遗传现象仍不清楚。最近,卵巢癌的发病机制归因于基因的突变。突变导致 PI3K/AKT 信号通路改变,从而导致上皮性卵巢癌的进展。突变基因在沙特女性的 EOC 发病机制中起重要作用。基因突变和过表达代表着对诊断和预后的重要临床意义,可用于更好的 EOC 管理。

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