A breast cancer prediction model incorporating familial and personal risk factors

Stat Med. 2004 Apr 15;23(7):1111-30. doi: 10.1002/sim.1668.


Many factors determine a woman's risk of breast cancer. Some of them are genetic and relate to family history, others are based on personal factors such as reproductive history and medical history. While many papers have concentrated on subsets of these risk factors, no papers have incorporated personal risk factors with a detailed genetic analysis. There is a need to combine these factors to provide a better overall determinant of risk. The discovery of the BRCA1 and BRCA2 genes has explained some of the genetic determinants of breast cancer risk, but these genes alone do not explain all of the familial aggregation of breast cancer. We have developed a model incorporating the BRCA genes, a low penetrance gene and personal risk factors. For an individual woman her family history is used in conjuction with Bayes theorem to iteratively produce the likelihood of her carrying any genes predisposing to breast cancer, which in turn affects her likelihood of developing breast cancer. This risk was further refined based on the woman's personal history. The model has been incorporated into a computer program that gives a personalised risk estimate.

MeSH terms

  • Adult
  • Age Factors
  • Aged
  • Bayes Theorem*
  • Breast Neoplasms / genetics*
  • Female
  • Genes, BRCA1
  • Genes, BRCA2
  • Genetic Predisposition to Disease
  • Humans
  • Middle Aged
  • Models, Genetic*
  • Models, Statistical
  • Pedigree
  • Risk Factors