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.
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Acknowledgements
We thank Rong Shi at the Wu Jieping Foundation and Dr Haibo Wang, Zhi Yu, Ying Li and other members of San Valley Biotechnology Inc., Beijing, for their assistance in sample and data collection. We also thank the staffs at the Beijing Military Hospital for their generous support for DNA sequencing and data collection. This research was supported by grants from the National Natural Science Foundation of China, the Wu Jieping Foundation and the National Institute of Health (R01 CA90427 and R01 AI084811 to SY-C).
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Authors CT, HY, FL, ZL, ZD and BG are employees of San Valley Biotechnology, Inc. in Beijing, China. This does not alter our adherence to the Journal’s policies on sharing data and materials. All other authors declare no conflict of interest.
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Bai, J., Gao, J., Mao, Z. et al. Genetic mutations in human rectal cancers detected by targeted sequencing. J Hum Genet 60, 589–596 (2015). https://doi.org/10.1038/jhg.2015.71
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DOI: https://doi.org/10.1038/jhg.2015.71
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