ArticleFrontiers in oncology2024
A portrait of germline pathogenic variants in high and moderate penetrance breast cancer genes in Brazil.
Article in Frontiers in oncology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Li Fraumeni syndrome in the UK: clinical characteristics and outcomes of TP53 carriers.ESMO open · 2025Article
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Abstract
Introduction: The prevalence of germline pathogenic/likely pathogenic variants (P/LP) in high and moderate penetrance (HMP) genes is approximately 7%-10% among breast cancer (BC) patients. The prevalence and spectrum of BC P/LP variants are affected by several factors. There are limited genetic data from Brazilian patients with BC. Methods: This is a retrospective cross-sectional study that aims to evaluate the germline profile of P/LP variants in 13 HMP BC genes ( Results: This cohort involved 2,208 patients with BC from 2019 to 2023. Most patients (79.7%) were from Southeastern Brazil. The median age at genetic testing was 47 years, and most patients (59.4%) were ≤50 years. The BC subtype was available in 641 cases: 264 patients (41.2%) were HR+/HER2-, 116 (18.1%) were HER2+, and 261 (40.7%) had triple-negative breast cancer (TNBC). Overall, 215 (9.7%) had a P/LP in HMP genes, including 5.8% in Conclusion: In Brazil, the epidemiology of deleterious variants in HMP is comparable to published US and EU cohorts. The Brazilian
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