About: Subgroup-specific structural variation across 1,00 meduloblastoma genomes     Goto   Sponge   NotDistinct   Permalink

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  • Medulloblastoma, the most common malignant paediatric brain tumour, is currently treated with nonspecific cytotoxic therapies including surgery, whole-brain radiation, and aggressive chemotherapy. As medulloblastoma exhibits marked intertumoural heterogeneity, with at least four distinct molecular variants, previous attempts to identify targets for therapy have been underpowered because of small samples sizes. Here we report somatic copy number aberrations (SCNAs) in 1,087 unique medulloblastomas. SCNAs are common in medulloblastoma, and are predominantly subgroup-enriched. The most common region of focal copy number gain is a tandem duplication of SNCAIP, a gene associated with Parkinson's disease, which is exquisitely restricted to Group 4 alpha. Recurrent translocations of PVT1, including PVT1-MYC and PVT1-NDRG1, that arise through chromothripsis are restricted to Group 3. Numerous targetable SCNAs, including recurrent events targeting TGF-beta signalling in Group 3, and NF-kappa B signalling in Group 4, suggest future avenues for rational, targeted therapy.  
  • Medulloblastoma, the most common malignant paediatric brain tumour, is currently treated with nonspecific cytotoxic therapies including surgery, whole-brain radiation, and aggressive chemotherapy. As medulloblastoma exhibits marked intertumoural heterogeneity, with at least four distinct molecular variants, previous attempts to identify targets for therapy have been underpowered because of small samples sizes. Here we report somatic copy number aberrations (SCNAs) in 1,087 unique medulloblastomas. SCNAs are common in medulloblastoma, and are predominantly subgroup-enriched. The most common region of focal copy number gain is a tandem duplication of SNCAIP, a gene associated with Parkinson's disease, which is exquisitely restricted to Group 4 alpha. Recurrent translocations of PVT1, including PVT1-MYC and PVT1-NDRG1, that arise through chromothripsis are restricted to Group 3. Numerous targetable SCNAs, including recurrent events targeting TGF-beta signalling in Group 3, and NF-kappa B signalling in Group 4, suggest future avenues for rational, targeted therapy.   (en)
Title
  • Subgroup-specific structural variation across 1,00 meduloblastoma genomes
  • Subgroup-specific structural variation across 1,00 meduloblastoma genomes (en)
skos:prefLabel
  • Subgroup-specific structural variation across 1,00 meduloblastoma genomes
  • Subgroup-specific structural variation across 1,00 meduloblastoma genomes (en)
skos:notation
  • RIV/65269705:_____/12:#0001635!RIV13-MZ0-65269705
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • I, V
http://linked.open...iv/cisloPeriodika
  • 7409
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 172298
http://linked.open...ai/riv/idVysledku
  • RIV/65269705:_____/12:#0001635
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • brain tumour (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV
  • [B08E504523AC]
http://linked.open...i/riv/nazevZdroje
  • Nature
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 488
http://linked.open...iv/tvurceVysledku
  • Zitterbart, Karel
  • Křen, Leoš
  • Northcott, Paul A
http://linked.open...ain/vavai/riv/wos
  • 000307010700030
issn
  • 0028-0836
number of pages
http://bibframe.org/vocab/doi
  • 10.1038/nature11327
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