Screening for PIK3CA mutations among Saudi women with ovarian cancer

• Published in: Journal of obstetrics and gynaecology Vol. 41; no. 7; p. 1127
• Main Authors: Al-Qahtani, Wedad Saeed, Alduwish, Manal Abduallah, Al-Olayan, Ebtesam M, Aljarba, Nada Hamad, Em, Al-Humaidhi, Albani, Fatimah Gh, Domiaty, Dalia Mostafa, Al-Otaibi, Aljohara M, Qattan, Somaya M Al, Almurshedi, Alanood S, Elasbali, Abdelbaset Mohamed, Ahmed, Hussain Gadelkarim, Almutlaq, Bassam Ahmed
• Format: Journal Article
• Language: English
• Published: England 03.10.2021
• Subjects: Adult; Arabs - genetics; Biomarkers, Tumor - genetics; Carcinoma, Ovarian Epithelial - ethnology; Carcinoma, Ovarian Epithelial - genetics; Class I Phosphatidylinositol 3-Kinases - genetics; DNA Mutational Analysis; Exons; Female; Humans; Middle Aged; Mutation, Missense - genetics; Ovarian Neoplasms - ethnology; Ovarian Neoplasms - genetics; Prognosis; Retrospective Studies; Saudi Arabia; Saudi Arabia; Saudi Arabia; Epithelial ovarian cancer; p110α expression; Kaplan-Meier survival analyses; FIGO stage; PIK3CA mutation
• ISSN: 1364-6893
• DOI: 10.1080/01443615.2020.1839871

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.