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Published on: March 21, 2018
Genetic mutations in human rectal cancers detected by targeted sequencing
Jun Bai1, Jinglong Gao2, Zhijun Mao3
1Department of Oncology, People's Hospital of Shaan Xi Province, Xi'an, China.
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.
Insights
This study identified frequent KRAS, TP53, and APC mutations in colorectal cancer (CRC) using targeted DNA sequencing. Understanding these genetic mutations is crucial for developing effective, personalized treatments for CRC patients.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Colorectal cancer (CRC) presents a significant global health challenge with high mortality rates.
- Genetic mutations in key signaling pathways are fundamental drivers of CRC development and progression.
- Accurate identification of these mutations is critical for tailoring patient treatment strategies.
Purpose of the Study:
- To employ a semiconductor-based targeted DNA sequencing method for identifying genetic mutations in human rectal cancer samples.
- To analyze the frequency and spectrum of mutations in a cohort of 91 CRC patients.
- To evaluate the clinical utility of targeted gene sequencing for CRC patient management.
Main Methods:
- Utilized a semiconductor-based targeted DNA sequencing approach.
- Sequenced DNA from 91 human rectal cancer samples.
- Analyzed mutation data for common and combination mutations.
Main Results:
- Frequent mutations were observed in KRAS (58.2%), TP53 (28.6%), APC (16.5%), FBXW7 (9.9%), and PIK3CA (9.9%).
- Additional mutations in BRAF, CTNNB1, ERBB2, and SMAD4 were detected.
- 41.8% of samples harbored two or more mutations, with common combinations including KRAS/TP53 and KRAS/APC.
Conclusions:
- Targeted DNA sequencing effectively identifies prevalent mutations in colorectal cancer.
- The high frequency of specific mutations like KRAS and TP53 underscores their importance in CRC pathogenesis.
- Targeted gene sequencing offers potential advantages in sensitivity, cost, and time, aiding clinicians in personalized CRC therapy.
