Avalanching mutations in biallelic mismatch repair deficiency syndrome

Nat Genet. 2015 Mar;47(3):194-6. doi: 10.1038/ng.3227.

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.

Publication types

  • Comment

MeSH terms

  • Base Pair Mismatch*
  • Brain Neoplasms / genetics*
  • DNA Mismatch Repair*
  • DNA Replication / genetics*
  • Humans