Assessing the Risk Stratification of Breast Cancer Polygenic Risk Scores in a Brazilian Cohort.

Autor:	Barreiro RAS; Departament of Biochemistry, University of São Paulo, São Paulo, Brazil; Hospital Israelita Albert Einstein, São Paulo, Brazil., de Almeida TF; Hospital Israelita Albert Einstein, São Paulo, Brazil. Electronic address: tatiana.almeida@einstein.br., Gomes C; Hospital Israelita Albert Einstein, São Paulo, Brazil; Institute of Psychiatry, University of São Paulo, Medical School, São Paulo, Brazil., Monfardini F; Hospital Israelita Albert Einstein, São Paulo, Brazil., de Farias AA; Hospital Israelita Albert Einstein, São Paulo, Brazil., Tunes GC; Hospital Israelita Albert Einstein, São Paulo, Brazil., de Souza GM; Hospital Israelita Albert Einstein, São Paulo, Brazil., Duim E; Big Data and Analytics Department, Hospital Israelita Albert Einstein, São Paulo, Brazil., de Sá Correia J; Hospital Israelita Albert Einstein, São Paulo, Brazil., Campos Coelho AV; Hospital Israelita Albert Einstein, São Paulo, Brazil., Caraciolo MP; Hospital Israelita Albert Einstein, São Paulo, Brazil., Oliveira Duarte YA; Medical-Surgical Nursing Department, School of Nursing, University of São Paulo, São Paulo, Brazil; Epidemiology Department, Public Health School, University of São Paulo, São Paulo, Brazil., Zatz M; Human Genome and Stem Cell Research Center, University of São Paulo, São Paulo, Brazil; Department of Genetics and Evolutionary Biology, Biosciences Institute, University of São Paulo, São Paulo, Brazil., Amaro E; Hospital Israelita Albert Einstein, São Paulo, Brazil., Oliveira JB; Hospital Israelita Albert Einstein, São Paulo, Brazil., Bitarello BD; Biology Department, Bryn Mawr College, Bryn Mawr, Pennsylvania., Brentani H; Hospital Israelita Albert Einstein, São Paulo, Brazil; Institute of Psychiatry, University of São Paulo, Medical School, São Paulo, Brazil., Naslavsky MS; Hospital Israelita Albert Einstein, São Paulo, Brazil; Human Genome and Stem Cell Research Center, University of São Paulo, São Paulo, Brazil; Department of Genetics and Evolutionary Biology, Biosciences Institute, University of São Paulo, São Paulo, Brazil.
Jazyk:	angličtina
Zdroj:	The Journal of molecular diagnostics : JMD [J Mol Diagn] 2024 Sep; Vol. 26 (9), pp. 825-831. Date of Electronic Publication: 2024 Jul 06.
DOI:	10.1016/j.jmoldx.2024.06.002
Abstrakt:	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 data sets are essential to assess the validity of PRSs derived from signals detected across populations. This study assesses the transferability of a breast cancer PRS composed of 313 risk variants (313-PRS) in a Brazilian trihybrid admixed ancestries (European, African, and Native American) whole-genome sequenced cohort, the Rare Genomes Project. 313-PRS was computed in the Rare Genomes Project (n = 853) using the UK Biobank (UKBB; n = 264,307) as reference. The Brazilian cohorts have a high European ancestry (EA) component, with allele frequency differences and to a lesser extent linkage disequilibrium patterns similar to those found in EA populations. The 313-PRS distribution was found to be inflated when compared with that of the UKBB, leading to potential overestimation of PRS-based risk if EA is taken as a standard. However, case controls lead to equivalent predictive power when compared with UKBB-EA samples with area under the receiver operating characteristic curve values of 0.66 to 0.62 compared with 0.63 for UKBB. Competing Interests: Disclosure Statement None declared. (Copyright © 2024 Association for Molecular Pathology and American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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