Breast cancer genetics: what we know and what we need

Nat Med. 2001 May;7(5):552-6. doi: 10.1038/87876.


Breast cancer results from genetic and environmental factors leading to the accumulation of mutations in essential genes. Genetic predisposition may have a strong, almost singular effect, as with BRCA1 and BRCA2, or may represent the cumulative effects of multiple low-penetrance susceptibility alleles. Here we review high- and low-penetrance breast-cancer-susceptibility alleles and discuss ongoing efforts to identify additional susceptibility genes. Ultimately these discoveries will lead to individualized breast cancer risk assessment and a reduction in breast cancer incidence.

Publication types

  • Review

MeSH terms

  • BRCA2 Protein
  • Breast Neoplasms / genetics*
  • Female
  • Genes, BRCA1
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Humans
  • Neoplasm Proteins / genetics
  • Transcription Factors / genetics


  • BRCA2 Protein
  • Neoplasm Proteins
  • Transcription Factors