Brent Mabey, Elisha Hughes, Matthew Kucera, Timothy Simmons, Brooke Hullinger, Holly J Pederson, Lamis Yehia, Charis Eng, Judy Garber, Monique Gary, Ora Gordon, Jennifer R Klemp, Semanti Mukherjee, Joseph Vijai, Kenneth Offit, Olufunmilayo I Olopade, Sandhya Pruthi, Allison Kurian, Mark E Robson, Pat W Whitworth, Tuya Pal, Sarah Ratzel, Susanne Wagner, Jerry S Lanchbury, Katherine Johansen Taber, Thomas P Slavin, Alexander Gutin
PURPOSE: We previously described a combined risk score (CRS) that integrates a multiple-ancestry polygenic risk score (MA-PRS) with the Tyrer-Cuzick (TC) model to assess breast cancer (BC) risk. Here, we present a longitudinal validation of CRS in a real-world cohort. METHODS: This study included 130,058 patients referred for hereditary cancer genetic testing and negative for germline pathogenic variants in BC-associated genes. Data were obtained by linking genetic test results to medical claims (median follow-up 12...
May 28, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics