@article{852d34369e9a486d8c0fdfd06adca469,
title = "The genetic landscape of the childhood cancer medulloblastoma",
abstract = "Medulloblastoma (MB) is the most common malignant brain tumor of children. To identify the genetic alterations in this tumor type, we searched for copy number alterations using high-density microarrays and sequenced all known protein-coding genes and microRNA genes using Sanger sequencing in a set of 22 MBs. We found that, on average, each tumor had 11 gene alterations, fewer by a factor of 5 to 10 than in the adult solid tumors that have been sequenced to date. In addition to alterations in the Hedgehog and Wnt pathways, our analysis led to the discovery of genes not previously known to be altered in MBs. Most notably, inactivating mutations of the histone-lysine N-methyltransferase genes MLL2 or MLL3 were identified in 16% of MB patients. These results demonstrate key differences between the genetic landscapes of adult and childhood cancers, highlight dysregulation of developmental pathways as an important mechanism underlying MBs, and identify a role for a specific type of histone methylation in human tumorigenesis.",
author = "Parsons, {D. Williams} and Meng Li and Xiaosong Zhang and Si{\^a}n Jones and Leary, {Rebecca J.} and Lin, {Jimmy Cheng Ho} and Boca, {Simina M.} and Hannah Carter and Josue Samayoa and Chetan Bettegowda and Gallia, {Gary L.} and Jallo, {George I.} and Binder, {Zev A.} and Yuri Nikolsky and James Hartigan and Smith, {Doug R.} and Gerhard, {Daniela S.} and Fults, {Daniel W.} and Scott VandenBerg and Berger, {Mitchel S.} and Marie, {Suely Kazue Nagahashi} and Shinjo, {Sueli Mieko Oba} and Carlos Clara and Phillips, {Peter C.} and Minturn, {Jane E.} and Biegel, {Jaclyn A.} and Judkins, {Alexander R.} and Resnick, {Adam C.} and Storm, {Phillip B.} and Tom Curran and Yiping He and Rasheed, {B. Ahmed} and Friedman, {Henry S.} and Keir, {Stephen T.} and Roger McLendon and Northcott, {Paul A.} and Taylor, {Michael D.} and Burger, {Peter C.} and Riggins, {Gregory J.} and Rachel Karchin and Giovanni Parmigiani and Bigner, {Darell D.} and Hai Yan and Nick Papadopoulos and Bert Vogelstein and Kinzler, {Kenneth W.} and Velculescu, {Victor E.}",
year = "2011",
month = jan,
day = "28",
doi = "10.1126/science.1198056",
language = "English (US)",
volume = "331",
pages = "435--439",
journal = "Science",
issn = "0036-8075",
publisher = "American Association for the Advancement of Science",
number = "6016",
}