Population Screening for Inherited Predisposition to Breast and Ovarian Cancer

Ranjit Manchanda* (Corresponding Author), Sari Lieberman, Faiza Gaba, Amnon Lahad, Ephrat Levy-Lahad

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

25 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)373-412
Number of pages40
JournalAnnual review of genomics and human genetics
Early online date21 Apr 2020
Publication statusPublished - 31 Aug 2020

Bibliographical note

R.M. is supported by the Eve Appeal and an NHS Innovation Accelerator Fellowship for research
into population testing. E.L.-L. is supported by the Breast Cancer Research Foundation.


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


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