Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History

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Abstract
Identification of individuals at high risk for cardiovascular disease or cancer remains a major public health need.1 Because these diseases have a genetic component, one approach is to use inherited DNA variation to stratify the population. The United States Centers for Disease Control and Prevention has identified 3 tier-1 genomic conditions in which genetic testing to identify carriers of a pathogenic variant may be particularly useful: familial hypercholesterolemia, hereditary breast and ovarian cancer syndrome, and Lynch syndrome.2-4

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