Mice with the CHEK2*1100delC SNP are predisposed to cancer with a strong gender bias

Proc Natl Acad Sci U S A. 2009 Oct 6;106(40):17111-6. doi: 10.1073/pnas.0909237106. Epub 2009 Sep 21.

Abstract

The CHEK2 kinase (Chk2 in mouse) is a member of a DNA damage response pathway that regulates cell cycle arrest at cell cycle checkpoints and facilitates the repair of dsDNA breaks by a recombination-mediated mechanism. There are numerous variants of the CHEK2 gene, at least one of which, CHEK2*1100delC (SNP), associates with breast cancer. A mouse model in which the wild-type Chk2 has been replaced by a Chk2*1100delC allele was tested for elevated risk of spontaneous cancer and increased sensitivity to challenge by a carcinogenic compound. Mice homozygous for Chk2*1100delC produced more tumors than wild-type mice, whereas heterozygous mice were not statistically different. When fractionated by gender, however, homozygous and heterozygous mice developed spontaneous tumors more rapidly and to a far greater extent than wild-type mice, indicative of a marked gender bias in mice harboring the variant allele. Consistent with our previous data showing elevated genomic instability in mouse embryonic fibroblasts (MEFs) derived from mice homozygous for Chk2*1100delC, the level of Cdc25A was elevated in heterozygous and homozygous MEFs and tumors. When challenged with the carcinogen 7,12-dimethylbenz[a]anthracene, all mice, regardless of genotype, had a reduced lifespan. Latency for mammary tumorigenesis was reduced significantly in mice homozygous for Chk2*1100delC but unexpectedly increased for the development of lymphomas. An implication from this study is that individuals who harbor the variant CHEK2*1100delC allele not only are at an elevated risk for the development of cancer but also that this risk can be further increased as a result of environmental exposure.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • 9,10-Dimethyl-1,2-benzanthracene
  • Animals
  • Blotting, Western
  • Checkpoint Kinase 2
  • Female
  • Fibroblasts / metabolism
  • Gene Deletion
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Immunohistochemistry
  • Male
  • Mice
  • Neoplasms / chemically induced
  • Neoplasms / genetics*
  • Neoplasms / pathology
  • Phosphorylation
  • Polymorphism, Single Nucleotide*
  • Protein Serine-Threonine Kinases / genetics*
  • Risk Factors
  • Sex Factors
  • Time Factors
  • cdc25 Phosphatases / genetics
  • cdc25 Phosphatases / metabolism

Substances

  • 9,10-Dimethyl-1,2-benzanthracene
  • Checkpoint Kinase 2
  • Chek2 protein, mouse
  • Protein Serine-Threonine Kinases
  • Cdc25a protein, mouse
  • cdc25 Phosphatases