Comprehensive genome- and transcriptome-wide analyses of mutations associated with microsatellite instability in Korean gastric cancers
- Kwiyeom Yoon1,8,
- Sunghoon Lee2,3,8,
- Tae-Su Han4,8,
- So Yeon Moon1,
- Sun Mi Yun1,5,
- Seong-Ho Kong4,6,
- Sungwoong Jho2,
- Jinny Choe1,
- Jieun Yu4,
- Hyuk-Joon Lee4,6,
- Ji Hyun Park1,
- Hak-Min Kim2,
- So Yeun Lee1,
- Jongsun Park2,
- Woo-Ho Kim4,7,
- Jong Bhak2,3,
- Han-Kwang Yang4,6 and
- Seong-Jin Kim1,5,9
- 1CHA Cancer Institute, CHA University, Seoul 135-081, Korea;
- 2Personal Genomics Institute, Genome Research Foundation, Suwon 443-270, Korea;
- 3TheragenEtex Bio Institute Inc., Suwon 443-270, Korea;
- 4Cancer Research Institute, Seoul National University, Seoul 110-799, Korea;
- 5Department of Biomedical Science, College of Life Science, CHA University, Gangnam-gu, Seoul 135-081, Korea;
- 6Department of Surgery, Seoul National University College of Medicine, Seoul 110-799, Korea;
- 7Department of Pathology, Seoul National University College of Medicine, Seoul 110-799, Korea
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↵8 These authors contributed equally to this work.
Abstract
Microsatellite instability (MSI) is a critical mechanism that drives genetic aberrations in cancer. To identify the entire MS mutation, we performed the first comprehensive genome- and transcriptome-wide analyses of mutations associated with MSI in Korean gastric cancer cell lines and primary tissues. We identified 18,377 MS mutations of five or more repeat nucleotides in coding sequences and untranslated regions of genes, and discovered 139 individual genes whose expression was down-regulated in association with UTR MS mutation. In addition, we found that 90.5% of MS mutations with deletions in gene regions occurred in UTRs. This analysis emphasizes the genetic diversity of MSI-H gastric tumors and provides clues to the mechanistic basis of instability in microsatellite unstable gastric cancers.
Footnotes
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↵9 Corresponding author
E-mail kimsj{at}cha.ac.kr
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[Supplemental material is available for this article.]
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Article published online before print. Article, supplemental material, and publication date are at http://www.genome.org/cgi/doi/10.1101/gr.145706.112.
- Received July 10, 2012.
- Accepted April 3, 2013.
This article is distributed exclusively by Cold Spring Harbor Laboratory Press for the first six months after the full-issue publication date (see http://genome.cshlp.org/site/misc/terms.xhtml). After six months, it is available under a Creative Commons License (Attribution-NonCommercial 3.0 Unported), as described at http://creativecommons.org/licenses/by-nc/3.0/.
