Benchmarking of a checklist for the identification of familial risk for breast and ovarian cancers in a prospective cohort

Breast J. 2019 May;25(3):455-460. doi: 10.1111/tbj.13257. Epub 2019 Apr 5.


The detection of deleterious germline mutations in BRCA1 and BRCA2 considerably influences the clinical management of healthy and diseased carriers. Therefore, the identification of persons at risk who could uptake genetic counseling and testing is pivotal. We developed a checklist with validated criteria to improve the identification, and prospectively evaluate the incidence, of familial cancer history in 5091 breast cancer patients. The rate of 30.4% of patients at high genetic risk underpins the demand for care in risk identification and counseling. The easy-to-use instrument promotes the implementation and dissemination of risk counseling by physicians.

Keywords: BRCA1; BRCA2; breast cancer; familial risk; genetic testing.

MeSH terms

  • BRCA1 Protein / genetics
  • BRCA2 Protein / genetics
  • Benchmarking
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • Checklist
  • Female
  • Genetic Predisposition to Disease
  • Germany
  • Humans
  • Incidence
  • Male
  • Medical History Taking*
  • Middle Aged
  • Mutation
  • Ovarian Neoplasms / epidemiology
  • Ovarian Neoplasms / genetics*


  • BRCA1 Protein
  • BRCA1 protein, human
  • BRCA2 Protein
  • BRCA2 protein, human

Supplementary concepts

  • Breast Cancer, Familial