Article
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.
JAMA network open - 1 Apr 2020
Patel Aniruddh P, Wang Minxian, Fahed Akl C, Mason-Suares Heather, Brockman Deanna, Pelletier Renee, Amr Sami, Machini Kalotina, Hawley Megan, Witkowski Leora, Koch Christopher, Philippakis Anthony, Cassa Christopher A, Ellinor Patrick T, Kathiresan Sekar, Ng Kenney, Lebo Matthew, Khera Amit V
Abstract excerpt
Importance: Pathogenic DNA variants associated with familial hypercholesterolemia, hereditary breast and ovarian cancer syndrome, and Lynch syndrome are widely recognized as clinically important and actionable when identified, leading some clinicians to recommend population-wide genomic screening. Objectives: To assess the prevalence and clinical importance of pathogenic or likely pathogenic variants associated...
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