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000212494 1001_ $$0P:(DE-He78)26c413e17f63cb683978f4025fcb831e$$aThatikonda, Venu$$b0$$eFirst author$$udkfz
000212494 245__ $$aComprehensive analysis of mutational signatures reveals distinct patterns and molecular processes across 27 pediatric cancers.
000212494 260__ $$aLondon$$bNature Research$$c2023
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000212494 500__ $$a#EA:B062#LA:B062# / 2023 Feb;4(2):276-289
000212494 520__ $$aAnalysis of mutational signatures can reveal underlying molecular mechanisms of the processes that have imprinted the somatic mutations found in cancer genomes. Here, we analyze single base substitutions and small insertions and deletions in pediatric cancers encompassing 785 whole-genome sequenced tumors from 27 molecularly defined cancer subtypes. We identified only a small number of mutational signatures active in pediatric cancers, compared with previously analyzed adult cancers. Further, we report a significant difference in the proportion of pediatric tumors showing homologous recombination repair defect signatures compared with previous analyses. In pediatric leukemias, we identified an indel signature, not previously reported, characterized by long insertions in nonrepeat regions, affecting mainly intronic and intergenic regions, but also exons of known cancer genes. We provide a systematic overview of COSMIC v.3 mutational signatures active across pediatric cancers, which is highly relevant for understanding tumor biology and enabling future research in defining biomarkers of treatment response.
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000212494 7001_ $$aIslam, S M Ashiqul$$b1
000212494 7001_ $$0P:(DE-He78)50c2928009c788a6a5f3a0708dfb6df5$$aAutry, Robert$$b2$$udkfz
000212494 7001_ $$0P:(DE-He78)fae1bf941c5fd76cf5356ecfa1243cc4$$aJones, Barbara$$b3$$udkfz
000212494 7001_ $$0P:(DE-He78)932918ed0e8d8790a81235528019a8e0$$aGröbner, Susanne$$b4
000212494 7001_ $$0P:(DE-He78)13b64bdd8d9a2fdb2ab13cc480819130$$aWarsow, Gregor$$b5$$udkfz
000212494 7001_ $$0P:(DE-He78)135e8c8d1dd1b66b8127c3d1e3a9b6a0$$aHutter, Barbara$$b6$$udkfz
000212494 7001_ $$0P:(DE-He78)a5218e4871866cd5ab2312e594ca403d$$aHübschmann, Daniel$$b7$$udkfz
000212494 7001_ $$0P:(DE-He78)f0144d171d26dbedb67c9db1df35629d$$aFröhling, Stefan$$b8$$udkfz
000212494 7001_ $$0P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8$$aKool, Marcel$$b9$$udkfz
000212494 7001_ $$0P:(DE-He78)261d2b84aded878003e6e35d18113831$$aBlattner-Johnson, Mirjam$$b10$$udkfz
000212494 7001_ $$0P:(DE-He78)551bb92841f634070997aa168d818492$$aJones, David$$b11$$udkfz
000212494 7001_ $$aAlexandrov, Ludmil B$$b12
000212494 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan$$b13$$udkfz
000212494 7001_ $$0P:(DE-He78)bff9e3e3d86865d2b0836bb8f3ce98f3$$aJäger, Natalie$$b14$$eLast author$$udkfz
000212494 773__ $$0PERI:(DE-600)3005299-3$$a10.1038/s43018-022-00509-4$$n2$$p276-289$$tNature cancer$$v4$$x2662-1347$$y2023
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