Cohort study reports a novel BRCA2 candidate pathogenic variant in Brazilian patients with familial cancer, highlighting genetic diversity in hereditary risk.
In this article, we delineate a loosely selected cohort comprising patients with a history of early-onset breast cancer and/or a familial occurrence of cancer. The aim of this study was to gain insights into the presence of breast cancer-related gene variants in a population from a micro-region in southern Brazil, specifically the Metropolitan Region of Curitiba. This area exhibits a highly genetically mixed population, mirroring the general characteristics of the Brazilian people.
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Duarte et al. (2024) studied this question.
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