Validation of a clinical breast cancer risk assessment tool combining a polygenic score for all ancestries with traditional risk factors.

doi:10.1016/j.gim.2024.101128

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Article

Validation of a clinical breast cancer risk assessment tool combining a polygenic score for all ancestries with traditional risk factors.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2024

Mabey Brent, Hughes Elisha, Kucera Matthew, Simmons Timothy, Hullinger Brooke, Pederson Holly J, Yehia Lamis, Eng Charis, Garber Judy, Gary Monique, Gordon Ora, Klemp Jennifer R, Mukherjee Semanti, Vijai Joseph, Offit Kenneth, Olopade Olufunmilayo I, Pruthi Sandhya, Kurian Allison, Robson Mark E, Whitworth Pat W, Pal Tuya, Ratzel Sarah, Wagner Susanne, Lanchbury Jerry S, Taber Katherine Johansen, Slavin Thomas P, Gutin Alexander

Abstract excerpt

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...

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PMID: 38829299
DOI: 10.1016/j.gim.2024.101128

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