APOBEC3B is an enzymatic source of mutation in breast cancer

Nature. 2013 Feb 21;494(7437):366-70. doi: 10.1038/nature11881. Epub 2013 Feb 6.

Abstract

Several mutations are required for cancer development, and genome sequencing has revealed that many cancers, including breast cancer, have somatic mutation spectra dominated by C-to-T transitions. Most of these mutations occur at hydrolytically disfavoured non-methylated cytosines throughout the genome, and are sometimes clustered. Here we show that the DNA cytosine deaminase APOBEC3B is a probable source of these mutations. APOBEC3B messenger RNA is upregulated in most primary breast tumours and breast cancer cell lines. Tumours that express high levels of APOBEC3B have twice as many mutations as those that express low levels and are more likely to have mutations in TP53. Endogenous APOBEC3B protein is predominantly nuclear and the only detectable source of DNA C-to-U editing activity in breast cancer cell-line extracts. Knockdown experiments show that endogenous APOBEC3B correlates with increased levels of genomic uracil, increased mutation frequencies, and C-to-T transitions. Furthermore, induced APOBEC3B overexpression causes cell cycle deviations, cell death, DNA fragmentation, γ-H2AX accumulation and C-to-T mutations. Our data suggest a model in which APOBEC3B-catalysed deamination provides a chronic source of DNA damage in breast cancers that could select TP53 inactivation and explain how some tumours evolve rapidly and manifest heterogeneity.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Base Sequence
  • Biocatalysis
  • Breast Neoplasms / enzymology*
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • Cell Death
  • Cell Line, Tumor
  • Cytidine Deaminase / genetics
  • Cytidine Deaminase / metabolism*
  • DNA Damage / genetics
  • DNA Fragmentation
  • DNA, Neoplasm / genetics
  • DNA, Neoplasm / metabolism
  • Deamination
  • Gene Expression Regulation, Enzymologic
  • Gene Expression Regulation, Neoplastic
  • Histones / metabolism
  • Humans
  • Minor Histocompatibility Antigens
  • Mutagenesis* / genetics
  • Phenotype
  • Point Mutation* / genetics
  • Tumor Suppressor Protein p53 / genetics
  • Tumor Suppressor Protein p53 / metabolism
  • Up-Regulation
  • Uracil / metabolism

Substances

  • DNA, Neoplasm
  • H2AX protein, human
  • Histones
  • Minor Histocompatibility Antigens
  • Tumor Suppressor Protein p53
  • Uracil
  • APOBEC3B protein, human
  • Cytidine Deaminase