Hypermutation takes the driver’s seat

Most pediatric tumors have only very few somatic mutations. However, a recent study revealed that a subset of tumors from children with congenital biallelic deficiency of DNA mismatch repair exhibits a mutational load surpassing almost all other cancers. In these ultra-hypermutated tumors, somatic m...

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Hauptverfasser: Schlesner, Matthias (VerfasserIn) , Eils, Roland (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: March 28, 2015
In: Genome medicine
Year: 2015, Jahrgang: 7
ISSN:1756-994X
DOI:10.1186/s13073-015-0159-x
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/s13073-015-0159-x
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Verfasserangaben:Matthias Schlesner and Roland Eils
Beschreibung
Zusammenfassung:Most pediatric tumors have only very few somatic mutations. However, a recent study revealed that a subset of tumors from children with congenital biallelic deficiency of DNA mismatch repair exhibits a mutational load surpassing almost all other cancers. In these ultra-hypermutated tumors, somatic mutations in the proofreading DNA polymerases complement the congenital mismatch repair deficiency to completely abolish replication repair, thereby driving tumor development. These findings open several possibilities for exploiting ultra-hypermutation for cancer therapy.
Beschreibung:Gesehen am 25.06.2020
Beschreibung:Online Resource
ISSN:1756-994X
DOI:10.1186/s13073-015-0159-x