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

Journal of Ovarian Research
Lei ZhangChen Qing

Abstract

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. 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. 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...Continue Reading

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Citations

Jul 4, 2020·Bioscience, Biotechnology, and Biochemistry·Xiaolin WangWenping Zhang
Jan 12, 2021·Cancer Letters·Vipul BhardwajVijay Pandey
May 18, 2021·Clinical Genetics·Yuanli Wang, Dawu Zheng
May 21, 2021·Biochimica Et Biophysica Acta. Reviews on Cancer·Talia GuardiaAikaterini Kontrogianni-Konstantopoulos

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Methods Mentioned

BETA
biopsy
RNA-Seq
GTPase
electrophoresis
PCR

Software Mentioned

Samtools
Bowtie2
R package edgeR
Picard tools
Cosmic
IPA
Annovar
Illumina Bcl2fastq2
ID
Reactome

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