Population Screening for Inherited Predisposition to Breast and Ovarian Cancer

Ranjit Manchanda, Sari Lieberman, Faiza Gaba, Amnon Lahad, Ephrat Levy-Lahad

نتاج البحث: نشر في مجلةمقالة مرجعيةمراجعة النظراء

ملخص

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.

اللغة الأصليةإنجليزيّة أمريكيّة
الصفحات (من إلى)373-412
عدد الصفحات40
دوريةAnnual Review of Genomics and Human Genetics
مستوى الصوت21
المعرِّفات الرقمية للأشياء
حالة النشرنُشِر - 31 أغسطس 2020

All Science Journal Classification (ASJC) codes

  • !!Molecular Biology
  • !!Genetics
  • !!Genetics(clinical)

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