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Assessing the Risk Stratification of Breast Cancer Polygenic Risk Scores in a Brazilian Cohort.
Rodrigo A S Barreiro1, Tatiana F de Almeida2, Catarina Gomes3
1Departament of Biochemistry, University of São Paulo, São Paulo, Brazil; Hospital Israelita Albert Einstein, São Paulo, Brazil.
The Journal of Molecular Diagnostics : JMD
|July 7, 2024
Summary
Polygenic risk scores (PRS) for breast cancer show promise but require local data for accurate risk prediction in admixed populations. This study found PRS can be transferable, but adjustments may be needed for diverse ancestries.
Area of Science:
- Genetics
- Genomics
- Epidemiology
Background:
- Polygenic risk scores (PRS) are valuable for breast cancer risk prediction.
- PRS transferability across diverse populations is limited by population-specific genetic factors like linkage disequilibrium and allele frequency differences.
- Locally sourced genomic data are crucial for validating PRS in different ancestries.
Purpose of the Study:
- To assess the transferability of a 313-variant breast cancer PRS in a Brazilian admixed cohort.
- To evaluate the impact of population-specific genetic factors on PRS accuracy.
- To determine the clinical utility of PRS in a tri-hybrid admixed population.
Main Methods:
- A 313-variant breast cancer PRS was computed in the Brazilian Rare Genomes Project cohort (n=853).
- The UK Biobank (UKBB; n=264,307) served as the reference panel for PRS calculation.
- Allele frequencies and linkage disequilibrium patterns were compared between Brazilian and European ancestry populations.
Main Results:
- The 313-PRS distribution was inflated in the Brazilian cohort compared to the UKBB, suggesting potential overestimation of risk.
- Despite inflation, the PRS demonstrated equivalent predictive power in Brazilian case-control samples (AUC 0.66-0.62) compared to UKBB-European ancestry samples (AUC 0.63).
- Brazilian cohorts exhibited high European ancestry with allele frequency and linkage disequilibrium patterns similar to European populations.
Conclusions:
- Breast cancer PRS can be transferable across admixed populations, but population-specific data are essential for accurate risk assessment.
- The findings highlight the need for careful PRS application in diverse ancestries to avoid risk overestimation.
- Further research with locally sourced data is vital for refining PRS utility in global health.
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