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Next-Generation Sequencing Characterizes the Landscape of Somatic Mutations and Pathways in Metastatic Bile Tract Carcinoma.

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机构： [1]State Key Laboratory of Organ Failure Research, Guangdong Provincial Key Laboratory of Viral Hepatitis Research, Department of Infectious Diseases, Nanfang Hospital, Southern Medical University, No. 1838, North Guangzhou Avenue, Guangzhou, Guangdong 510515, China [2]Department of Oncology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China [3]Department of Hepatobiliary Surgery, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China [4]Cancer Center, Integrated Hospital of Traditional Chinese Medicine, Southern Medical University, Guangzhou, Guangdong 510315, China [5]Transplant Immunology Laboratory, Churchill Hospital, Oxford University Hospitals NHS Trust, Old Road, Headington, Oxford OX3 8HF, UK

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Tumor metastasis remains the leading cause of cancer-related mortality in biliary tract cancer. The etiology and mechanism of bile tract carcinoma metastasis are unclear. The primary tumor and blood samples of 14 patients with biliary tract cancer were collected, followed by nucleic acid extraction and library construction. Target sequencing with 556 panel genes and WES were performed to detect the hot spot genes variations. Bioinformatics was used to comprehensively analyze the sequencing data of these samples, including the differences of tumor mutation burden and signaling pathways. The results showed that the mutation frequency of TP53 gene was the highest and the mutations of CTNNB1, EPHA7, ARID2, and PIK3CA were only found in metastatic samples. The TMB mean values of metastatic and non-metastatic groups were 12.97 and 10.38 mutations per Mb, respectively. There were significant differences in the enrichment pathways of cellular components between the tumor metastasis and non-metastatic samples. We identified multiple pathway differences, which helps us better understand metastatic biliary tumors and design clinical therapy for personalized medicine. Copyright © 2020 Qi Li et al.

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出版当年[2019]版：

大类 | 2 区医学

小类 | 3 区肿瘤学

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第一作者：

第一作者机构： [1]State Key Laboratory of Organ Failure Research, Guangdong Provincial Key Laboratory of Viral Hepatitis Research, Department of Infectious Diseases, Nanfang Hospital, Southern Medical University, No. 1838, North Guangzhou Avenue, Guangzhou, Guangdong 510515, China [2]Department of Oncology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China

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通讯机构： [1]State Key Laboratory of Organ Failure Research, Guangdong Provincial Key Laboratory of Viral Hepatitis Research, Department of Infectious Diseases, Nanfang Hospital, Southern Medical University, No. 1838, North Guangzhou Avenue, Guangzhou, Guangdong 510515, China [2]Department of Oncology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China

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