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Pregled bibliografske jedinice broj: 894099

Analysis of somatic microsatellite indels identifies driver events in human tumors


Maruvka, Yosef E; Mouw, Kent W; Karlic, Rosa; Parasuraman, Prasanna; Kamburov, Atanas; Polak, Paz; Haradhvala, Nicholas J; Hess, Julian M; Rheinbay, Esther; Brody, Yehuda et al.
Analysis of somatic microsatellite indels identifies driver events in human tumors // Nature biotechnology, 35 (2017), 10; 951-959 doi:10.1038/nbt.3966 (međunarodna recenzija, članak, znanstveni)


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Naslov
Analysis of somatic microsatellite indels identifies driver events in human tumors

Autori
Maruvka, Yosef E ; Mouw, Kent W ; Karlic, Rosa ; Parasuraman, Prasanna ; Kamburov, Atanas ; Polak, Paz ; Haradhvala, Nicholas J ; Hess, Julian M ; Rheinbay, Esther ; Brody, Yehuda ; Koren, Amnon ; Braunstein, Lior Z ; D'Andrea, Alan ; Lawrence, Michael S ; Bass, Adam ; Bernards, Andre ; Michor, Franziska ; Getz, Gad.

Izvornik
Nature biotechnology (1087-0156) 35 (2017), 10; 951-959

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Cancer genetics ; Genome informatics ; Microsatellite instability

Sažetak
Microsatellites (MSs) are tracts of variable-length repeats of short DNA motifs that exhibit high rates of mutation in the form of insertions or deletions (indels) of the repeated motif. Despite their prevalence, the contribution of somatic MS indels to cancer has been largely unexplored, owing to difficulties in detecting them in short-read sequencing data. Here we present two tools: MSMuTect, for accurate detection of somatic MS indels, and MSMutSig, for identification of genes containing MS indels at a higher frequency than expected by chance. Applying MSMuTect to whole-exome data from 6, 747 human tumors representing 20 tumor types, we identified >1, 000 previously undescribed MS indels in cancer genes. Additionally, we demonstrate that the number and pattern of MS indels can accurately distinguish microsatellite-stable tumors from tumors with microsatellite instability, thus potentially improving classification of clinically relevant subgroups. Finally, we identified seven MS indel driver hotspots: four in known cancer genes (ACVR2A, RNF43, JAK1, and MSH3) and three in genes not previously implicated as cancer drivers (ESRP1, PRDM2, and DOCK3).

Izvorni jezik
Engleski

Znanstvena područja
Biologija



POVEZANOST RADA


Projekti:
KK.01.1.1.01.0010
HRZZ-IP-2014-09-6400 - Istraživanje razvoja, diferencijacije i evolucije životinja kroz genomiku bazalnih metazoa (BAMGEN) (Vlahoviček, Kristian, HRZZ - 2014-09) ( POIROT)
KK.01.1.1.01.0009 - Napredne metode i tehnologije u znanosti o podatcima i kooperativnim sustavima (EK )

Ustanove:
Prirodoslovno-matematički fakultet, Zagreb

Profili:

Avatar Url Rosa Karlić (autor)

Citiraj ovu publikaciju

Maruvka, Yosef E; Mouw, Kent W; Karlic, Rosa; Parasuraman, Prasanna; Kamburov, Atanas; Polak, Paz; Haradhvala, Nicholas J; Hess, Julian M; Rheinbay, Esther; Brody, Yehuda et al.
Analysis of somatic microsatellite indels identifies driver events in human tumors // Nature biotechnology, 35 (2017), 10; 951-959 doi:10.1038/nbt.3966 (međunarodna recenzija, članak, znanstveni)
Maruvka, Y., Mouw, K., Karlic, R., Parasuraman, P., Kamburov, A., Polak, P., Haradhvala, N., Hess, J., Rheinbay, E. & Brody, Y. (2017) Analysis of somatic microsatellite indels identifies driver events in human tumors. Nature biotechnology, 35 (10), 951-959 doi:10.1038/nbt.3966.
@article{article, year = {2017}, pages = {951-959}, DOI = {10.1038/nbt.3966}, keywords = {Cancer genetics, Genome informatics, Microsatellite instability}, journal = {Nature biotechnology}, doi = {10.1038/nbt.3966}, volume = {35}, number = {10}, issn = {1087-0156}, title = {Analysis of somatic microsatellite indels identifies driver events in human tumors}, keyword = {Cancer genetics, Genome informatics, Microsatellite instability} }
@article{article, year = {2017}, pages = {951-959}, DOI = {10.1038/nbt.3966}, keywords = {Cancer genetics, Genome informatics, Microsatellite instability}, journal = {Nature biotechnology}, doi = {10.1038/nbt.3966}, volume = {35}, number = {10}, issn = {1087-0156}, title = {Analysis of somatic microsatellite indels identifies driver events in human tumors}, keyword = {Cancer genetics, Genome informatics, Microsatellite instability} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


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