A molecular portrait of microsatellite instability across multiplecancers

Collection with item attached
2017
Item details URL
http://open-repository.kisti.re.kr/cube/handle/open_repository/473742.do
DOI
10.1038/ncomms15180
Title
A molecular portrait of microsatellite instability across multiplecancers
Description
We thank the Research Information Technology Group at Harvard MedicalSchool and K.T. for providing computational resources. This work wassupported by grants from the Ludwig Center at Harvard (I.C.-C. andP.J.P.) and the Korean Health Technology R&D Project, Ministry of Health& Welfare, Republic of Korea (HI13C2096, S.L. and W.-Y.P.). We thankAlison Barton and Lixing Yang for their critical reading of the paper.
abstract
Microsatellite instability (MSI) refers to the hypermutability of short repetitive sequences in the genome caused by impaired DNA mismatch repair. Although MSI has been studied for decades, large amounts of sequencing data now available allows us to examine the molecular fingerprints of MSI in greater detail. Here, we analyse similar to 8,000 exomes and similar to 1,000 whole genomes of cancer patients across 23 cancer types. Our analysis reveals that the frequency of MSI events is highly variable within and across tumour types. We also identify genes in DNA repair and oncogenic pathways recurrently subject to MSI and uncover non-coding loci that frequently display MSI. Finally, we propose a highly accurate exome-based predictive model for the MSI phenotype. These results advance our understanding of the genomic drivers and consequences of MSI, and our comprehensive catalogue of tumour-type-specific MSI loci will enable panel-based MSI testing to identify patients who are likely to benefit from immunotherapy.
provenance
Made available in Cube on 2018-09-28T10:27:40Z (GMT). No. of bitstreams: 0
language
English
author
Cortes-Ciriano, Isidro
Lee, Sejoon
Park, Woong-Yang
Kim, Tae-Min
Park, Peter J.
accessioned
2018-09-28T10:27:40Z
available
2018-09-28T10:27:40Z
issued
2017
citation
NATURE COMMUNICATIONS(8)
issn
2041-1723
uri
http://open-repository.kisti.re.kr/cube/handle/open_repository/473742.do
Funder
보건복지부
Funding Program
첨단의료기술개발
Project ID
1465024447
Jurisdiction
Rep.of Korea
Project Name
Development of genome analysis platform for precision cancer medicine
rights
openAccess
type
article


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