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Pregled bibliografske jedinice broj: 929602

Abstract LB-280: The landscape of somatic microsatellite indels across cancer: detection and identification of driver events


Maruvka, Yosef E.; Mouw, Kent W.; Karlic, Rosa; Parasuraman, Rasanna; Kamburov, Atanas; Polak, Paz; Haradhvala, Nicholas J.; Hess, Julian M.; Rheinbay, Esther; Brody, Yehuda et al.
Abstract LB-280: The landscape of somatic microsatellite indels across cancer: detection and identification of driver events // Cancer Research, 77 (2017), 13 Supplement; LB-280, 1 doi:10.1158/1538-7445.am2017-lb-280 (međunarodna recenzija, ostalo, znanstveni)


CROSBI ID: 929602 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Abstract LB-280: The landscape of somatic microsatellite indels across cancer: detection and identification of driver events

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

Izvornik
Cancer Research (0008-5472) 77 (2017), 13 Supplement; LB-280, 1

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

Ključne riječi
microsatellite, cancer, drivers

Sažetak
Microsatellites (MSs) are tracts of variable-length repeats of short DNA motifs that are abundant in the human genome and exhibit high rates of mutations in the form of insertions or deletions of the repeated motif (MS indels). Despite their prevalence, the contribution of somatic MS indels to cancer is largely unexplored due to difficulties in detecting them and assessing their significance. Here, we present a comprehensive analysis of MS indels across 20 tumor types. We characterize the overall MS indel landscape and detect genes with candidate driver MS indel events. We present two novel tools: MSMuTect for accurate detection of somatic MS indels and MSMutSig for identifying candidate cancer genes containing events at higher frequency than expected by chance. We observe high variability of the frequency of MS indels across tumors and demonstrate that the number and pattern of MS indels can accurately distinguish microsatellite stable (MSS) tumors from tumors with microsatellite instability (MSI). Applying MSMutSig across 6, 788 tumors from 20 different tumor types identified 7 genes with significant MS indel hotspots: ACVR2A, RNF43, DOCK3, MSH3, ESRP1, PRDM2 and JAK1. In the four genes that have been previously implicated in cancer (ACVR2A, RNF43, JAK1 and MSH3), we identified previously unreported MS indels events. Three of the genes with significant loci - DOCK3, PRDM2 and ESRP1- had not been previously listed as cancer genes. MS indels in DOCK3, a negative regulator of the WNT pathway, were mutually exclusive with mutations in CTNNB1. MS indels in ESRP1, an RNA processing gene, correlated with alternative splicing of FGFR2, an event associated with the epithelial-to-mesenchymal transition. Overall, our comprehensive analysis of somatic MS indels across cancer highlights their importance, particularly in MSI tumors, significantly contributes to the ongoing global efforts to detect cancer genes, and may improve classification of patients into clinically-relevant subgroups.

Izvorni jezik
Engleski

Znanstvena područja
Biologija



POVEZANOST RADA


Projekti:
KK.01.1.1.01.0010
INTEGRA-LIFE
grant 315997
KK.01.1.1.01.0009 - Napredne metode i tehnologije u znanosti o podatcima i kooperativnim sustavima (EK )
HRZZ-IP-2014-09-6400 - Istraživanje razvoja, diferencijacije i evolucije životinja kroz genomiku bazalnih metazoa (BAMGEN) (Vlahoviček, Kristian, HRZZ - 2014-09) ( POIROT)

Ustanove:
Prirodoslovno-matematički fakultet, Zagreb

Profili:

Avatar Url Rosa Karlić (autor)

doi

Citiraj ovu publikaciju

Maruvka, Yosef E.; Mouw, Kent W.; Karlic, Rosa; Parasuraman, Rasanna; Kamburov, Atanas; Polak, Paz; Haradhvala, Nicholas J.; Hess, Julian M.; Rheinbay, Esther; Brody, Yehuda et al.
Abstract LB-280: The landscape of somatic microsatellite indels across cancer: detection and identification of driver events // Cancer Research, 77 (2017), 13 Supplement; LB-280, 1 doi:10.1158/1538-7445.am2017-lb-280 (međunarodna recenzija, ostalo, znanstveni)
Maruvka, Y., Mouw, K., Karlic, R., Parasuraman, R., Kamburov, A., Polak, P., Haradhvala, N., Hess, J., Rheinbay, E. & Brody, Y. (2017) Abstract LB-280: The landscape of somatic microsatellite indels across cancer: detection and identification of driver events. Cancer Research, 77 (13 Supplement), LB-280, 1 doi:10.1158/1538-7445.am2017-lb-280.
@article{article, year = {2017}, pages = {1}, DOI = {10.1158/1538-7445.am2017-lb-280}, chapter = {LB-280}, keywords = {microsatellite, cancer, drivers}, journal = {Cancer Research}, doi = {10.1158/1538-7445.am2017-lb-280}, volume = {77}, number = {13 Supplement}, issn = {0008-5472}, title = {Abstract LB-280: The landscape of somatic microsatellite indels across cancer: detection and identification of driver events}, keyword = {microsatellite, cancer, drivers}, chapternumber = {LB-280} }
@article{article, year = {2017}, pages = {1}, DOI = {10.1158/1538-7445.am2017-lb-280}, chapter = {LB-280}, keywords = {microsatellite, cancer, drivers}, journal = {Cancer Research}, doi = {10.1158/1538-7445.am2017-lb-280}, volume = {77}, number = {13 Supplement}, issn = {0008-5472}, title = {Abstract LB-280: The landscape of somatic microsatellite indels across cancer: detection and identification of driver events}, keyword = {microsatellite, cancer, drivers}, chapternumber = {LB-280} }

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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