Genetic mutations in human rectal cancers detected by targeted sequencing

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...

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Bibliographic Details
Published in:Journal of human genetics 2015-10, Vol.60 (10), p.589-596
Main Authors: 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
Format: Article
Language:English
Subjects:
Adenomatous polyposis coli
Adult
Advantages
Aged
Aged, 80 and over
Cancer
Cancer therapies
Cdc4 protein
Colorectal cancer
Colorectal carcinoma
Deoxyribonucleic acid
DNA
DNA sequencing
Drug therapy
ErbB-2 protein
Ethics
Female
Genes
Genetics
Genomes
Genomics
High-Throughput Nucleotide Sequencing
Hospitals
Humans
Immunology
Laboratories
Male
Middle Aged
Mutation
Neoplasm Proteins - genetics
Next-generation sequencing
Nucleotide sequence
p53 Protein
Patients
Rectal Neoplasms - genetics
Rectum
Smad4 protein
Software
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Summary: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.
ISSN:1434-5161
1435-232X
DOI:10.1038/jhg.2015.71