Reconstructing the Origin and Demographic Expansion of the TP53 p.R337H Founder Variant in Brazil

This study highlights the value of integrating population genetics with historical data to elucidate the spread of medically relevant founder variants. Understanding the dissemination of TP53 p.R337H will enhance public health planning and genetic counseling strategies in Brazil. See related In the Spotlight, p. 187.

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Publication Details

Journal
Cancer Epidemiology Biomarkers & Prevention
Published
2025-10-29
DOI
https://doi.org/10.1158/1055-9965.epi-25-1148
Primary Topic
Cancer-related Molecular Pathways
Type
article
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article

Reconstructing the Origin and Demographic Expansion of the TP53 p.R337H Founder Variant in Brazil

João C. D. Muzzi, José Andrés Yunes, Gerard P. Zambetti, Emília M. Pinto et al.
Cancer Epidemiology Biomarkers & Prevention
Cancer-related Molecular Pathways
article

Reconstructing the Origin and Demographic Expansion of the TP53 p.R337H Founder Variant in Brazil

João C. D. Muzzi, José Andrés Yunes, Gerard P. Zambetti, Emília M. Pinto, Bonald C. Figueiredo, Raul Correa Ribeiro
article en

Abstract

This study highlights the value of integrating population genetics with historical data to elucidate the spread of medically relevant founder variants. Understanding the dissemination of TP53 p.R337H will enhance public health planning and genetic counseling strategies in Brazil. See related In the Spotlight, p. 187.

Cancer Epidemiology Biomarkers & PreventionVol. 35(2)
St. Jude Children's Research Hospital (US), Universidade Estadual de Campinas (UNICAMP) (BR), Centro Infantil Boldrini (BR), Hospital Erasto Gaertner (BR), Instituto de Tecnologia do Paraná (BR)
Openalex Percentile: Top 58%
Cancer-related Molecular Pathways
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