PLoS One. 2013;8(5):e64271.
Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing.
제1저자 한세원 · 교신저자 김태유
소속 (1)
- Department of Internal Medicine, Seoul National University Hospital, Seoul, Korea.
Abstract
Recent advance in sequencing technology has enabled comprehensive profiling of genetic alterations in cancer. We have established a targeted sequencing platform using next-generation sequencing (NGS) technology for clinical use, which can provide mutation and copy number variation data. NGS was performed with paired-end library enriched with exons of 183 cancer-related genes. Normal and tumor tissue pairs of 60 colorectal adenocarcinomas were used to test feasibility. Somatic mutation and copy number alteration were analyzed. A total of 526 somatic non-synonymous sequence variations were found in 113 genes. Among these, 278 single nucleotide variations were 232 different somatic point mutations. 216 SNV were 79 known single nucleotide polymorphisms in the dbSNP. 32 indels were 28 different indel mutations. Median number of mutated gene per tumor was 4 (range 0-23). Copy number gain (>X2 fold) was found in 65 genes in 40 patients, whereas copy number loss (<X0.5 fold) was found in 103 genes in 39 patients. The most frequently altered genes (mutation and/or copy number alteration) were APC in 35 patients (58%), TP53 in 34 (57%), and KRAS in 24 (40%). Altered gene list revealed ErbB signaling pathway as the most commonly involved pathway (25 patients, 42%). Targeted sequencing platform using NGS technology is feasible for clinical use and provides comprehensive genetic alteration data.
Figures
그림 출처: PubMed Central 공개 논문 (PMC3660257)
Conflict of interest statement
Competing Interests:The authors wish to declare that Jong-Yeon Shin and Jong-Il Kim are consultants for Psoma Therapeutics and Jeong-Sun Seo is a consultant for Macrogen. This does not alter the authors' adherence to all the PLOS ONE policies on sharing data and materials.
그 밖의 정보
- 출판 형태
- Journal Article, Research Support, Non-U.S. Gov't
- 저널
- PloS one · eISSN 1932-6203
- 전자 출판
- 2013-05-21
- MeSH
- Adult · Aged · Aged, 80 and over · Colorectal Neoplasms / genetics / metabolism / pathology · DNA Copy Number Variations · Female · Genomics · High-Throughput Nucleotide Sequencing* · Humans · INDEL Mutation · Male · Middle Aged · Mutation · Neoplasm Staging · Oncogenes* · Polymorphism, Single Nucleotide · Reproducibility of Results · Signal Transduction
- 참고문헌
- 27편