title: Genetic mutations in human rectal cancers detected by targeted sequencing.
abstract: 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.
authors.affiliation: Department of Oncology, People's Hospital of Shaan Xi Province, Xi'an, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Bai
authors.affiliation: Central Laboratory, People's Hospital of Shaan Xi Province, Xi'an, China.
authors.forename: Jinglong
authors.initials: J
authors.lastname: Gao
authors.affiliation: Department of General Surgery, People's Hospital of Shaan Xi Province, Xi'an, China.
authors.forename: Zhijun
authors.initials: Z
authors.lastname: Mao
authors.affiliation: Department of General Surgery, People's Hospital of Shaan Xi Province, Xi'an, China.
authors.forename: Jianhua
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Oncology, People's Hospital of Shaan Xi Province, Xi'an, China.
authors.forename: Jianhui
authors.initials: J
authors.lastname: Li
authors.affiliation: Department of Pathology, People's Hospital of Shaan Xi Province, Xi'an, China.
authors.forename: Wensheng
authors.initials: W
authors.lastname: Li
authors.affiliation: Department of Oncology, People's Hospital of Shaan Xi Province, Xi'an, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Lei
authors.affiliation: Central Laboratory, People's Hospital of Shaan Xi Province, Xi'an, China.
authors.forename: Shuaishuai
authors.initials: S
authors.lastname: Li
authors.affiliation: Central Laboratory, People's Hospital of Shaan Xi Province, Xi'an, China.
authors.forename: Zhuo
authors.initials: Z
authors.lastname: Wu
authors.affiliation: San Valley Biotechnology Incorporated, Beijing, China.
authors.forename: Chuanning
authors.initials: C
authors.lastname: Tang
authors.affiliation: Norris Comprehensive Cancer Center, Department of Molecular Microbiology and Immunology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
authors.forename: Lindsey
authors.initials: L
authors.lastname: Jones
authors.affiliation: San Valley Biotechnology Incorporated, Beijing, China.
authors.forename: Hua
authors.initials: H
authors.lastname: Ye
authors.affiliation: San Valley Biotechnology Incorporated, Beijing, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Lou
authors.affiliation: San Valley Biotechnology Incorporated, Beijing, China.
authors.forename: Zhiyuan
authors.initials: Z
authors.lastname: Liu
authors.affiliation: San Valley Biotechnology Incorporated, Beijing, China.
authors.forename: Zhishou
authors.initials: Z
authors.lastname: Dong
authors.affiliation: San Valley Biotechnology Incorporated, Beijing, China.
authors.forename: Baishuai
authors.initials: B
authors.lastname: Guo
authors.affiliation: Norris Comprehensive Cancer Center, Department of Molecular Microbiology and Immunology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
authors.forename: Xue F
authors.initials: XF
authors.lastname: Huang
authors.affiliation: Norris Comprehensive Cancer Center, Department of Molecular Microbiology and Immunology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
authors.forename: Si-Yi
authors.initials: SY
authors.lastname: Chen
authors.affiliation: Central Laboratory, People's Hospital of Shaan Xi Province, Xi'an, China.
authors.forename: Enke
authors.initials: E
authors.lastname: Zhang
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D012004:Rectal Neoplasms / Q000235:genetics*
chemical_list: D009363:Neoplasm Proteins