Evaluation of a breast/ovarian cancer genetics referral screening tool in a mammography population

Genet Med. 2009 Nov;11(11):783-9. doi: 10.1097/GIM.0b013e3181b9b04a.


Purpose: Simple screening tools are needed to facilitate the appropriate referral of patients for genetic counseling and testing for BRCA1/2 mutations. This study evaluated the reliability and accuracy of a "referral screening tool" designed for rapid identification of individuals at potential hereditary risk for breast/ovarian cancer.

Methods: The referral screening tool was administered to 2464 unselected women undergoing screening mammography. Detailed four-generation cancer pedigrees were collected by telephone interview on a random subset of 296 women. The pedigrees were analyzed using four established hereditary risk models (BRCAPRO, Myriad II, BOADICEA, FHAT), with a > or =10% BRCA1/2 mutation probability or a FHAT score of > or =10 as the definition of "high risk."

Results: The referral screening tool identified 6.2% of subjects as screen "positive" (high risk). Concordance of randomly repeated referral screening tools (156 of 2464) was 96% (kappa = 0.75). In comparison with the pedigree analyses, the referral screening tool demonstrated an overall (high risk by any model) sensitivity of 81.2%, specificity of 91.9%, and discriminatory accuracy of 0.87.

Conclusions: Within the population studied, the referral screening tool seems to be a reliable and valid tool to identify individuals who should be referred for consideration of BRCA1/2 testing. Further examination of the referral screening tool in primary care settings is warranted to assess its impact on the efficiency with which health care providers triage patients to cancer genetics services.

Publication types

  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • BRCA1 Protein / genetics
  • BRCA2 Protein / genetics
  • Breast Neoplasms / genetics*
  • Early Detection of Cancer
  • Female
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Genetic Testing / methods*
  • Humans
  • Mammography
  • Ovarian Neoplasms / genetics*
  • Surveys and Questionnaires*


  • BRCA1 Protein
  • BRCA2 Protein