Next-generation sequencing-based genomic profiling analysis reveals novel mutations for clinical diagnosis in Chinese primary epithelial ovarian cancer patients

Autor:	Xianliang Cheng, Hongying Yang, Shaoyan Zhu, Chen Qing, Lei Zhang, Min Luo
Jazyk:	angličtina
Rok vydání:	2019
Předmět:	0301 basic medicine Neuroblastoma RAS viral oncogene homolog Pathway analysis Carcinoma Ovarian Epithelial Biology Gene mutation Bioinformatics medicine.disease_cause lcsh:Gynecology and obstetrics DNA sequencing 03 medical and health sciences 0302 clinical medicine Asian People medicine Humans Genetic Predisposition to Disease KEGG Gene Early Detection of Cancer Oncogenesis Expression profiling lcsh:RG1-991 Aged Ovarian Neoplasms Research Obstetrics and Gynecology Genomics Middle Aged Epithelial ovarian cancer Neoplasm Proteins Gene Expression Regulation Neoplastic Gene expression profiling 030104 developmental biology Oncology Genetic marker 030220 oncology & carcinogenesis Mutation Female Carcinogenesis Genome-Wide Association Study Signal Transduction
Zdroj:	Journal of Ovarian Research, Vol 12, Iss 1, Pp 1-10 (2019) Journal of Ovarian Research
ISSN:	1757-2215
DOI:	10.1186/s13048-019-0494-4
Popis:	Background Ovarian cancer (OC) is one of the most malignant gynecological tumors, associated with excess death rate (50–60%) in ovarian cancer patients. Particularly, among newly occurred ovarian cancer patients, 70% of clinical cases are diagnosed at the advanced stage, which definitely delay the timely treatment and lead to high mortality rate within 5 years post diagnosis. Therefore, identification of sensitive gene markers, as well as development of reliable genetic diagnosis, are important for the early detection and precise therapy for OC patients. This study aims to identify novel genetic mutations and develop a feasible clinical approach for early OC diagnosis. Methods The OC tissue-derived DNA sample was acquired from 31 OC patients, and the somatic gene mutations will be identified after comparison with normal samples, using Genome-wide analysis and next-generation sequencing. Results A total of 463 somatic mutations, which were considered as potential pathogenic sites, were assigned to 473 genes. Among them, 15 genes (TP53, TTN, MUC16, OR4N2, BRCA1, CAD, CCDC129, INSR, NAV3, NELL2, NRAS, OBSCN, PGLYRP4, RBM15B and TRPC7) were mutated on at least two sites. These genes were mapped to RNA sequencing (RNAseq) data, and a total of 117 genes had an absolute fold- change ≥ 2 and p ≤ 0.01. Five genes were mutated in at least two OC patients. Gene ontology (GO) classification indicated that a majority of genes participated in biological processes. Kyoto Enrichment of Genes and Genomes (KEGG) enrichment pathway analysis revealed that the genes were mainly involved in the regulation of metabolic signaling pathways. Conclusions Taken together, this study identified several novel genetic alterations pathway for early clinical diagnosis and provided abundant information for understanding molecular mechanisms of the OC occurrence and development. Electronic supplementary material The online version of this article (10.1186/s13048-019-0494-4) contains supplementary material, which is available to authorized users.
Databáze:	OpenAIRE
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