標題: Genetic alterations in endometrial cancer by targeted next-generation sequencing
作者: Chang, Ya-Sian
Huang, Hsien-Da
Yeh, Kun-Tu
Chang, Jan-Gowth
生物科技學系
生物資訊及系統生物研究所
Department of Biological Science and Technology
Institude of Bioinformatics and Systems Biology
關鍵字: Endometrial cancer;Next-generation sequencing;PTEN mutation;IL-7 signaling pathway
公開日期: Feb-2016
摘要: Many genetic factors play important roles in the development of endometrial cancer. The aim of this study was to investigate genetic alterations in the Taiwanese population with endometrial cancer. DNA was extracted from 10 cases of fresh-frozen endometrial cancer tissue. The exomes of cancer-related genes were captured using the NimbleGen Comprehensive Cancer Panel (578 cancer-related genes) and sequenced using the Illumina Genomic Sequencing Platform. Our results revealed 120 variants in 99 genes, 21 of which were included in the Oncomine Cancer Research Panel used in the National Cancer Institute Match Trial. The 21 genes comprised 8 tumor suppressor candidates (AIM, MSH2, PIK3R1, PTCH1, PTEN, TET2, TP53, and TSC1) and 13 oncogene candidates (ALK, BCL9, CTNNB1, ERBB2, FGFR2, FLT3, HNF1A, KIT, MTOR, PDGFRA, PPP2R1A, PTPN11, and SF3B1). We identified a high frequency of mutations in PTEN (50%) and genes involved in the endometrial cancer-related molecular pathway, which involves the IL-7 signaling pathway (PIK3R1, n = 1; AKT2, n = 1; FOXO1, n = 1). We report the mutational landscape of endometrial cancer in the Taiwanese population. We believe that this study will shed new light on fundamental aspects for understanding the molecular pathogenesis of endometrial cancer and may aid in the development of new targeted therapies. (C) 2015 Elsevier Inc. All rights reserved.
URI: http://dx.doi.org/10.1016/j.yexmp.2015.11.026
http://hdl.handle.net/11536/132974
ISSN: 0014-4800
DOI: 10.1016/j.yexmp.2015.11.026
期刊: EXPERIMENTAL AND MOLECULAR PATHOLOGY
Volume: 100
Issue: 1
起始頁: 8
結束頁: 12
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