Health AI Central
Peer-Reviewed Publication
Front Genet2025;161556907.January 1, 2025Journal Article

Clinical validation of an integrated risk assessment test incorporating genomic and non-genomic data for sporadic breast cancer in Colombia.

Harvy Mauricio Velasco Parra1, Danny Styvens Cardona1,2, Cesar Augusto Buitrago1, Melisa Naranjo Vanegas1, Sebastián Gutiérrez Hincapié3, Carolina Jaramillo Jaramillo3, Alicia Maria Cock-Rada1,2,3,4, Carolina Benavides Duque5, Clara Patricia Piedrahita6, Catalina Bustamante6, Leonel Andrés González Niño1,2,3, Jen Kintle7, Scott Kulm7, Alessandro Bolli7, Paolo Di Dominico7, Giordano Botta7, George B Busby7, Juan Pablo Valencia-Arango1,2
1Personalized Medicine Group, Unidad de Bioentendimiento, Bioscience Center- Ayudas Diagnósticas SURA, Medellín, Colombia.
2Data Science Department, Bioscience Center - Ayudas Diagnósticas SURA, Medellín, Colombia.
3Omics Science Center, Unidad de Bioentendimiento, Bioscience Center - Ayudas Diagnósticas SURA, Medellín, Colombia.
4Ayudas Diagnósticas Sura, Bioscience Center, Medellín, Colombia.
5Clinical Research Group, Bioscience Center - Ayudas Diagnósticas SURA, Medellín, Colombia.
6Medical imaging & AI in health SURA, Bioscience Center - Ayudas Diagnósticas SURA, Medellín, Colombia.
7Allelica Inc., New York, United States.
PubMed PMC DOI PDF

Abstract

INTRODUCTION: Breast cancer risk arises from a complex interaction of genetic, environmental, and physiological factors. Integrating Polygenic Risk Scores (PRS) with clinical risk factors can enhance personalized risk prediction, especially in diverse populations like Colombia. OBJECTIVE: To evaluate the predictive performance of ancestry-specific PRS combined with clinical and imaging risk facto…

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