Genomics

Dataset Information

0

Ena-DATASET-DKFZ-HIPO-01-12-2017-13:14:23:391-67 - samples

ABSTRACT: The data set contains paired end fastq files for whole exome sequencing data for Leiomyosarcoma tumor and control samples

PROVIDER: EGAD00001003829 | EGA |

REPOSITORIES: EGA

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Publications

Integrative genomic and transcriptomic analysis of leiomyosarcoma.

Chudasama Priya P   Mughal Sadaf S SS   Sanders Mathijs A MA   Hübschmann Daniel D   Chung Inn I   Deeg Katharina I KI   Wong Siao-Han SH   Rabe Sophie S   Hlevnjak Mario M   Zapatka Marc M   Ernst Aurélie A   Kleinheinz Kortine K   Schlesner Matthias M   Sieverling Lina L   Klink Barbara B   Schröck Evelin E   Hoogenboezem Remco M RM   Kasper Bernd B   Heilig Christoph E CE   Egerer Gerlinde G   Wolf Stephan S   von Kalle Christof C   Eils Roland R   Stenzinger Albrecht A   Weichert Wilko W   Glimm Hanno H   Gröschel Stefan S   Kopp Hans-Georg HG   Omlor Georg G   Lehner Burkhard B   Bauer Sebastian S   Schimmack Simon S   Ulrich Alexis A   Mechtersheimer Gunhild G   Rippe Karsten K   Brors Benedikt B   Hutter Barbara B   Renner Marcus M   Hohenberger Peter P   Scholl Claudia C   Fröhling Stefan S  

Nature communications 20180110 1

Leiomyosarcoma (LMS) is an aggressive mesenchymal malignancy with few therapeutic options. The mechanisms underlying LMS development, including clinically actionable genetic vulnerabilities, are largely unknown. Here we show, using whole-exome and transcriptome sequencing, that LMS tumors are characterized by substantial mutational heterogeneity, near-universal inactivation of TP53 and RB1, widespread DNA copy number alterations including chromothripsis, and frequent whole-genome duplication. Fu  ...[more]

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