Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk

Breast Cancer Res Treat. 2009 Sep;117(1):161-5. doi: 10.1007/s10549-008-0249-1. Epub 2008 Nov 22.

Abstract

We studied the effects of BRCA2 and CHEK2 variants on breast cancer risk in two case-control series from Poland and Belarus. The missense BRCA2 variant T1915M was associated with a significant reduction in breast cancer risk (OR = 0.62; 95% CI 0.49-0.79; P = 0.0007). Modest increases of breast cancer risk were observed for the four analysed CHEK2 variants (I157T, 1100delC, IVS2 + 1G > A and del5395) (OR = 2.2; 95% 1.7-2.8; P = 0.0001). The highest risk was observed among women who carried both a BRCA2 and a CHEK2 variant (OR = 5.7; 95% CI 1.7-19; P = 0.006). We observed a statistically significant interaction effect between CHEK2 mutations and the BRCA2 substitution (P = 0.03). These data suggest that the BRCA2 T1915M polymorphism alone might be associated with a reduced risk of breast cancer, but among CHEK2 mutation carriers, it may lead to an unexpectedly high risk.

MeSH terms

  • BRCA2 Protein / genetics*
  • Breast Neoplasms / genetics*
  • Case-Control Studies
  • Checkpoint Kinase 2
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Middle Aged
  • Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Protein Serine-Threonine Kinases / genetics*
  • Risk Factors

Substances

  • BRCA2 Protein
  • Checkpoint Kinase 2
  • CHEK2 protein, human
  • Protein Serine-Threonine Kinases