Population Screening for Inherited Predisposition to Breast and Ovarian Cancer

Annu Rev Genomics Hum Genet. 2020 Aug 31;21:373-412. doi: 10.1146/annurev-genom-083118-015253. Epub 2020 Apr 21.


The discovery of genes underlying inherited predisposition to breast and ovarian cancer has revolutionized the ability to identify women at high risk for these diseases before they become affected. Women who are carriers of deleterious variants in these genes can undertake surveillance and prevention measures that have been shown to reduce morbidity and mortality. However, under current strategies, the vast majority of women carriers remain undetected until they become affected. In this review, we show that universal testing, particularly of the BRCA1 and BRCA2 genes, fulfills classical disease screening criteria. This is especially true for BRCA1 and BRCA2 in Ashkenazi Jews but is translatable to all populations and may include additional genes. Utilizing genetic information for large-scale precision prevention requires a paradigmatic shift in health-care delivery. To address this need, we propose a direct-to-patient model, which is increasingly pertinent for fulfilling the promise of utilizing personal genomic information for disease prevention.

Keywords: Ashkenazi Jews; BRCA1; BRCA2; breast cancer; disease prevention; population screening.

Publication types

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

MeSH terms

  • BRCA1 Protein / genetics*
  • BRCA2 Protein / genetics*
  • Breast Neoplasms / diagnosis*
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics
  • Early Detection of Cancer / methods*
  • Female
  • Genetic Predisposition to Disease*
  • Genetics, Population
  • Humans
  • Mutation*
  • Ovarian Neoplasms / diagnosis*
  • Ovarian Neoplasms / epidemiology
  • Ovarian Neoplasms / genetics
  • Risk Factors


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