Assessment and counseling for women with a family history of breast cancer. A guide for clinicians

JAMA. 1995 Feb 15;273(7):577-85.


More women in all risk categories are seeking information regarding their individual breast cancer risk, and there is a need for their primary care clinicians to be able to assess familial risk factors for breast cancer, provide individualized risk information, and offer surveillance recommendations. Estimates of the number of women with a family history of breast cancer range from approximately 5% to 20%, depending on the population surveyed. Many of these women will not have a family history that suggests the presence of a highly penetrant breast cancer susceptibility gene. However, a small subset of such women will come from families with a striking incidence of breast and other cancers often associated with inherited mutations. The development and refinement of risk prediction models provide an epidemiologic basis for counseling women with a family history that does not appear related to a dominant susceptibility gene. contrast, the recent isolation of BRCA1, the localization of BRCA2, and the acknowledgement that additional breast cancer susceptibility genes must exist provide a molecular basis for counseling some high-risk women. We present a guide for primary care clinicians that may be helpful in defining families as moderate or high risk, in determining individual risk in women with a family history of breast cancer based on this distinction, and for counseling women in a setting where the data necessary to design surveillance and prevention strategies are lacking. We include criteria for selecting women who may be candidates for detection of inherited mutations in breast cancer susceptibility genes.

MeSH terms

  • BRCA1 Protein
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / prevention & control*
  • Causality
  • Counseling / standards*
  • DNA / analysis
  • Female
  • Genetic Testing
  • Humans
  • Mutation
  • Neoplasm Proteins / genetics
  • Pedigree
  • Practice Guidelines as Topic*
  • Risk Assessment
  • Transcription Factors / genetics
  • United States


  • BRCA1 Protein
  • Neoplasm Proteins
  • Transcription Factors
  • DNA