Article
Assessing the Risk Stratification of Breast Cancer Polygenic Risk Scores in a Brazilian Cohort.
The Journal of molecular diagnostics : JMD - 1 Sept 2024
Barreiro Rodrigo A S, de Almeida Tatiana F, Gomes Catarina, Monfardini Frederico, de Farias Allysson A, Tunes Gabriela C, de Souza Gabriel M, Duim Etienne, de Sá Correia Jaqueline, Campos Coelho Antonio V, Caraciolo Marcel P, Oliveira Duarte Yeda A, Zatz Mayana, Amaro Edson, Oliveira João B, Bitarello Bárbara D, Brentani Helena, Naslavsky Michel S
Abstract excerpt
Polygenic risk scores (PRSs) for breast cancer have a clear clinical utility in risk prediction. PRS transferability across populations and ancestry groups is hampered by population-specific factors, ultimately leading to differences in variant effects, such as linkage disequilibrium and differences in variant frequency (allele frequency differences). Thus, locally sourced population-based phenotypic and genomic...
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