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 Open2020Vol. 3(4), pp. e203959–e203959
Citations Over TimeTop 1% of 2020 papers
Aniruddh P. Patel, Minxian Wang, Akl C. Fahed, Heather Mason‐Suares, Deanna Brockman, Renée C. Pelletier, Sami S. Amr, Kalotina Machini, Megan Hawley, Leora Witkowski, Christopher Koch, Anthony Philippakis, Christopher A. Cassa, Patrick T. Ellinor, Sekar Kathiresan, Kenney Ng, Matthew S. Lebo, Amit V. Khera
Abstract
The findings suggest that approximately 1% of the middle-aged adult population in the UK Biobank harbored a pathogenic variant associated with any of 3 genomic conditions. These variants were associated with an increased risk of disease despite contemporary clinical care and were not reliably detected by family history.
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