Abstract

Abstract Gene fusion occurs when a part of one gene fuses with or attaches to a part of another gene by genome rearrangement and the result in gene fusion may possess oncogenic properties; fused gene may be translated into a unique protein that may promotes cancer properties. Bile duct cancer are one of the most lethal cancer types with low 5-year survival rates, but lack of proper diagnostic or prognostic markers. Our aim was to investigate bile duct cancer specific fusion genes found in patient’s specimens. We extracted total RNA from five bile duct cancer tissues and normal tissues from the same patients. We performed RNA sequencing and the result data was analyzed using ChimeraScan, Jaffa or Fusionchacher softwares to detect gene fusion. To identify the cancer somatic fusion gene, the fusion occurred in normal tissues and previously reported fusion genes found in normal tissues were excluded and the fusion occurred in coding region was included. As a result, we found 52 bile duct cancer tissue specific- fusion genes. We analyzed the expression of selected fusion genes in 30 bile duct cancer patients and cancer cell lines by qRT-PCR. As a result we observed two novel bile duct cancer specific fusion genes. We cloned one of the fusion genes and transfected into the bile duct cancer cell lines SNU-1196 to assess, and increase in cell motility was observed in vitro. These findings indicate the presence of novel fusion genes as well as its possible application for the early diagnosis or prognosis of bile duct cancer. Citation Format: Kahee Kim, Dawoon Esther Jung, Mi-kyoung Seo, Sang Woo Kim, Si Young Song. Identification of bile duct cancer specific fusion genes in patient tissues [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2017; 2017 Apr 1-5; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2017;77(13 Suppl):Abstract nr 4398. doi:10.1158/1538-7445.AM2017-4398

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