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.
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Waterfall, J., Meltzer, P. Avalanching mutations in biallelic mismatch repair deficiency syndrome. Nat Genet 47, 194–196 (2015). https://doi.org/10.1038/ng.3227
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DOI: https://doi.org/10.1038/ng.3227
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