Dataset Information

Medullo-SJMBWES - samples

ABSTRACT: 225 clinical cases, control exomes with some paired tumor data, sequenced on Illumina machines from the paper "Germline Elongator mutations in Sonic Hedgehog medulloblastoma" (Waszak et al. 2020 Nature).

OTHER RELATED OMICS DATASETS IN: PXD016832

PROVIDER: EGAD00001006665 | EGA |

REPOSITORIES: EGA

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Publications

Germline Elongator mutations in Sonic Hedgehog medulloblastoma.

Waszak Sebastian M SM Robinson Giles W GW Gudenas Brian L BL Smith Kyle S KS Forget Antoine A Kojic Marija M Garcia-Lopez Jesus J Hadley Jennifer J Hamilton Kayla V KV Indersie Emilie E Buchhalter Ivo I Kerssemakers Jules J Jäger Natalie N Sharma Tanvi T Rausch Tobias T Kool Marcel M Sturm Dominik D Jones David T W DTW Vasilyeva Aksana A Tatevossian Ruth G RG Neale Geoffrey G Lombard Bérangère B Loew Damarys D Nakitandwe Joy J Rusch Michael M Bowers Daniel C DC Bendel Anne A Partap Sonia S Chintagumpala Murali M Crawford John J Gottardo Nicholas G NG Smith Amy A Dufour Christelle C Rutkowski Stefan S Eggen Tone T Wesenberg Finn F Kjaerheim Kristina K Feychting Maria M Lannering Birgitta B Schüz Joachim J Johansen Christoffer C Andersen Tina V TV Röösli Martin M Kuehni Claudia E CE Grotzer Michael M Remke Marc M Puget Stéphanie S Pajtler Kristian W KW Milde Till T Witt Olaf O Ryzhova Marina M Korshunov Andrey A Orr Brent A BA Ellison David W DW Brugieres Laurence L Lichter Peter P Nichols Kim E KE Gajjar Amar A Wainwright Brandon J BJ Ayrault Olivier O Korbel Jan O JO Northcott Paul A PA Pfister Stefan M SM

Nature 20200401 7803

Cancer genomics has revealed many genes and core molecular processes that contribute to human malignancies, but the genetic and molecular bases of many rare cancers remains unclear. Genetic predisposition accounts for 5 to 10% of cancer diagnoses in children<sup>1,2</sup>, and genetic events that cooperate with known somatic driver events are poorly understood. Pathogenic germline variants in established cancer predisposition genes have been recently identified in 5% of patients with the maligna ...[more]

PMID: 32296180

Dataset Information

Medullo-SJMBWES - samples

Publications

Germline Elongator mutations in Sonic Hedgehog medulloblastoma.

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