Genetic counseling for women with an intermediate family history of breast cancer

Am J Med Genet. 2000 Feb 28;90(5):361-8. doi: 10.1002/(sici)1096-8628(20000228)90:5<361::aid-ajmg4>;2-8.


Women with a family history of breast cancer often over-estimate their personal risk for cancer and may view themselves as candidates for genetic testing even when the likelihood of an informative test result is low. We report here on genetic counseling of women with an intermediate family history of breast cancer, defined as women who have one or more biological relatives with breast cancer but whose pedigree suggests a low likelihood of autosomal dominant transmission. A genetic counseling protocol based on traditional genetic counseling strategies was developed with additional components added to address the needs of women with moderately increased breast cancer risk. These additional components included information about non-genetic risk factors, comparisons of high and moderate risk pedigrees, and evaluation of personal risk based on both genetic and nongenetic risk factors. Most participants liked the genetic counseling and found it useful. At baseline, participants over-estimated both their personal risk of breast cancer and that of the average woman. After counseling, estimates of personal and average risk of breast cancer were lower, although both remained higher than actual risk. Most participants reported that they felt less worried about breast cancer after receiving their personal-risk estimate. At baseline, most women judged themselves to be candidates for genetic testing and expressed interest in testing. The number who considered themselves candidates for testing was reduced after counseling (60% versus 82%) but still constituted a majority. Similarly, interest in testing was partially reduced by counseling (60% versus 91%). We conclude that genetic counseling can help women with an intermediate family history of breast cancer to develop more accurate views of their risk, reduce their breast cancer worry, and aid some of them in developing a more realistic view of genetic testing.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • BRCA1 Protein / genetics
  • BRCA2 Protein
  • Breast Neoplasms / genetics*
  • Clinical Protocols
  • Female
  • Genetic Counseling / methods*
  • Genetic Counseling / psychology
  • Humans
  • Middle Aged
  • Mutation
  • Neoplasm Proteins / genetics
  • Risk Factors
  • Surveys and Questionnaires
  • Transcription Factors / genetics


  • BRCA1 Protein
  • BRCA2 Protein
  • Neoplasm Proteins
  • Transcription Factors