title: Avalanching mutations in biallelic mismatch repair deficiency syndrome.
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.
authors.affiliation: Genetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA.
authors.forename: Joshua J
authors.initials: JJ
authors.lastname: Waterfall
authors.affiliation: Genetics Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA.
authors.forename: Paul S
authors.initials: PS
authors.lastname: Meltzer
mesh_terms: D020137:Base Pair Mismatch; D001932:Brain Neoplasms / Q000235:genetics*; D053843:DNA Mismatch Repair; D004261:DNA Replication / Q000235:genetics*; D006801:Humans