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Avalanching mutations in biallelic mismatch repair deficiency syndrome

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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Figure 1: Mutation accumulation and cancer development in patients with bMMRD.

Marina Corral Spence/Nature Publishing Group


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Correspondence to Paul S Meltzer.

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Waterfall, J., Meltzer, P. Avalanching mutations in biallelic mismatch repair deficiency syndrome. Nat Genet 47, 194–196 (2015).

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