Article
Polygenic risk in familial breast cancer: Changing the dynamics of communicating genetic risk.
Journal of genetic counseling - 1 Feb 2022
Gregory Gillian, Das Gupta Kuheli, Meiser Bettina, Barlow-Stewart Kristine, Geelan-Small Peter, Kaur Rajneesh, Scheepers-Joynt Maatje, McInerny Simone, Taylor Shelby, Antill Yoland, Salmon Lucinda, Smyth Courtney, Young Mary-Anne, James Paul A, Yanes Tatiane
Abstract excerpt
Hereditary breast cancer is associated with known genetic changes: either variants that affect function in a few rare genes or an ever-increasing number of common genomic risk variants, which combine to produce a cumulative effect, known as a polygenic risk (PR) score. While the clinical validity and utility of PR scores are still being determined, the communication of PR is a new challenge for genetic health...
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