کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2774972 1152303 2016 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Genetic alterations in endometrial cancer by targeted next-generation sequencing
ترجمه فارسی عنوان
تغییرات ژنتیکی در سرطان آندومتر با تعیین توالی نسل بعدی
کلمات کلیدی
سرطان آندومتری؛ توالی بعدی نسل؛ جهش PTEN؛ مسیر سیگنالینگ IL-7
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیوشیمی بالینی
چکیده انگلیسی

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 (ATM, 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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Experimental and Molecular Pathology - Volume 100, Issue 1, February 2016, Pages 8–12
نویسندگان
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