Germline TP53 p.R337H and XAF1 p.E134* Variants: Prevalence in Paraguay and Comparison with Rates in Brazilian State of Paraná and Previous Findings at the Paraguayan–Brazilian Border
The hypothesis of Spanish immigrants carrying p.R337H to Paraguay was disproved. TP53 p.R337H neonatal testing in Paraguay is not recommended, except when there are families with Brazilian ancestry presenting cancer cases. Additional epidemiological studies are required to determine the likelihood of the identified prevalence of the XAF1 p.E134* allele (1/153) in NBs from Paraguay without TP53 p.R337H to present cancer risk. This study complements the first national initiative for the DNA screening of newborns aimed at mapping the TP53 p.R337H and XAF1 p.E134* variants in Paraguay (based on the regions of residence of the newborns).
Authors
- Horacio Legal-Ayala (ORCID: https://orcid.org/0000-0002-1790-2559)
- Andreas Ríes (ORCID: https://orcid.org/0000-0002-2976-7964)
- Mariana M. Paraizo (ORCID: https://orcid.org/0000-0001-8866-5776)
- Magna Monteiro (ORCID: https://orcid.org/0000-0002-5078-7214)
- Edith F. Legal (ORCID: https://orcid.org/0009-0004-8045-8202)
- A. Florentin
- Cesar Ojeda
- Marta Ascurra (ORCID: https://orcid.org/0000-0002-3381-3214)
- M.A. Colman
- Elis R. Sade
- Rosa Vega-Paredes
Institutions
- Universidad del Norte (PY)
- Hospital de Clínicas Universidade Federal do Paraná (BR)
- Ministerio de Salud Pública y Bienestar Social (PY)
- Universidad Nacional de Asunción (PY)
Publication Details
- Journal
- Current Oncology
- Published
- 2025-06-06
- DOI
- https://doi.org/10.3390/curroncol32060333
- Primary Topic
- Cancer-related Molecular Pathways
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Universidad Nacional de Asunción
- Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
- Consejo Nacional de Ciencia y Tecnología