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Annual Review of Genomics and Human Genetics

Volume 21, 2020

Population Screening for Inherited Predisposition to Breast and Ovarian Cancer

Abstract

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 and genes, fulfills classical disease screening criteria. This is especially true for and 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.

Keyword(s): Ashkenazi Jews, BRCA1, BRCA2, breast cancer, disease prevention, population screening
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/content/journals/10.1146/annurev-genom-083118-015253
2020-08-31
2024-04-19
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Population Screening for Inherited Predisposition to Breast and Ovarian Cancer
Annual Review of Genomics and Human Genetics 21, 373 (2020); https://doi.org/10.1146/annurev-genom-083118-015253
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