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Targeted Sequencing of Cancer-Related Genes in Colorectal Cancer Using Next-Generation Sequencing

Cited 66 time in Web of Science Cited 72 time in Scopus
Authors

Han, Sae-Won; Kim, Hwang-Phill; Shin, Jong-Yeon; Jeong, Eun-Goo; Lee, Won-Chul; Lee, Kyung-Hun; Won, Jae-Kyung; Kim, Tae-Yong; Oh, Do-YounIm, Seock-AhBang, Yung-Jue; Jeong, Seung-Yong; Park, Kyu Joo; Park, Jae-Gahb; Kang, Gyeong Hoon; Seo, Jeong-Sun; Kim, Jong-Il; Kim, Tae-You

Issue Date
2013-05
Publisher
Public Library of Science
Citation
PLoS ONE, Vol.8 No.5, p. e64271
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 (
ISSN
1932-6203
URI
https://hdl.handle.net/10371/173248
DOI
https://doi.org/10.1371/journal.pone.0064271
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  • College of Medicine
  • Department of Medicine
Research Area DNA 손상 반응 타겟 물질의 면역조절 효과, Effect of DNA damage response target substances on immunomodulatory action, Efficacy and biomarker validation studies of targeted therapeutics, Resistance mechanisms according to targeted therapeutics, 표적 항암제 내성 기전 연구, 표적 항암제의 효과 검증 및 바이오마커 규명

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