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Article

ESR1 Variants and Subcontinental Genomic Ancestry: Insights from the 1000 Genomes Project and Native American Populations.

Clinical pharmacology and therapeutics - 1 Jul 2025

Scudeler Mariana M, Manóchio Caíque, Miwa Bruno, Belfort-Almeida Guilherme, Faria-Costa Lucas, Sanchez Cesar, Padilla Carlos, Caceres Omar, Tarazona-Santos Eduardo, Guio Heinner, O'Connor Timothy D, Rodrigues-Soares Fernanda

Abstract excerpt

The ESR1 gene is relevant in breast cancer treatments in the pharmacogenetics context. However, Native, African, and mixed populations are known to be underrepresented in genomic studies. This is particularly important given that the difference in variants' frequencies among different populations can lead to population-specific clinical implications. Therefore, this study aims to infer the genomic subcontinental...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40247433
DOI: 10.1002/cpt.3681
PMCID: PMC12166263

Genes

ESR1

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