Avalanching mutations in biallelic mismatch repair deficiency syndrome

descriptionPublicationkeyboard_double_arrow_right Article 25 Feb 2015 English Publisher:Springer Science and Business Media LLCJournal:Nature Genetics, volume 47, pages 194-196 (issn: 1061-4036, eissn: 1546-1718,

Copyright policy )Funded by:EC | MELGEN

Authors: Waterfall, Joshua J.; Meltzer, Paul S.;

doi: 10.1038/ng.3227

pmid: 25711864

Avalanching mutations in biallelic mismatch repair deficiency syndrome

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Abstract

Tumors from pediatric patients generally contain relatively few somatic mutations. A new study reports a striking exception in individuals in whom biallelic germline deficiency for mismatch repair is compounded by somatic loss of function in DNA proofreading polymerases, resulting in 'ultra-hypermutated' malignant brain tumors.

Related Organizations

National Cancer Institute
United States
Center for Cancer Research
United States

Keywords

DNA Replication, Base Pair Mismatch, Brain Neoplasms, Humans, DNA Mismatch Repair

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