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   Genetic mutations in human rectal cancers detected by targeted sequencing  
   
نویسنده Bai Jun ,Gao Jinglong ,Mao Zhijun ,Wang Jianhua ,Li Jianhui ,Li Wensheng ,Lei Yu ,Li Shuaishuai ,Wu Zhuo ,Tang Chuanning ,Jones Lindsey ,Ye Hua ,Lou Feng ,Liu Zhiyuan ,Dong Zhishou ,Guo Baishuai ,Huang Xue F ,Chen Si-Yi ,Zhang Enke
منبع journal of human genetics - 2015 - دوره : 60 - شماره : 10 - صفحه:589 -596
چکیده    Colorectal cancer (crc) is widespread with significant mortality. both inherited and sporadic mutations in various signaling pathways influence the development and progression of the cancer. identifying genetic mutations in crc is important for optimal patient treatment and many approaches currently exist to uncover these mutations, including next-generation sequencing (ngs) and commercially available kits. in the present study, we used a semiconductor-based targeted dna-sequencing approach to sequence and identify genetic mutations in 91 human rectal cancer samples. analysis revealed frequent mutations in kras (58.2%), tp53 (28.6%), apc (16.5%), fbxw7 (9.9%) and pik3ca (9.9%), and additional mutations in braf, ctnnb1, erbb2 and smad4 were also detected at lesser frequencies. thirty-eight samples (41.8%) also contained two or more mutations, with common combination mutations occurring between kras and tp53 (42.1%), and kras and apc (31.6%). dna sequencing for individual cancers is of clinical importance for targeted drug therapy and the advantages of such targeted gene sequencing over other ngs platforms or commercially available kits in sensitivity, cost and time effectiveness may aid clinicians in treating crc patients in the near future.
آدرس People’s Hospital of Shaan Xi Province, Department of Oncology, China, People’s Hospital of Shaan Xi Province, Central Laboratory, China, People’s Hospital of Shaan Xi Province, Department of General Surgery, China, People’s Hospital of Shaan Xi Province, Department of General Surgery, China, People’s Hospital of Shaan Xi Province, Department of Oncology, China, People’s Hospital of Shaan Xi Province, Department of Pathology, China, People’s Hospital of Shaan Xi Province, Department of Oncology, China, People’s Hospital of Shaan Xi Province, Central Laboratory, China, People’s Hospital of Shaan Xi Province, Central Laboratory, China, San Valley Biotechnology Incorporated, China, University of Southern California, Department of Molecular Microbiology and Immunology, USA, San Valley Biotechnology Incorporated, China, San Valley Biotechnology Incorporated, China, San Valley Biotechnology Incorporated, China, San Valley Biotechnology Incorporated, China, San Valley Biotechnology Incorporated, China, University of Southern California, Department of Molecular Microbiology and Immunology, USA, University of Southern California, Department of Molecular Microbiology and Immunology, USA, People’s Hospital of Shaan Xi Province, Central Laboratory, China
 
     
   
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