Hereditary breast cancer next-generation sequencing (NGS) panel evaluation in the south region of Brazil: a novel BRCA2 candidate pathogenic variant is reported.

, there is a growing understanding that breast cancer risk is influenced by a range of genes. In the pursuit of understanding and mitigating breast cancer risks, genetic testing plays a pivotal role. These tests draw upon extensive databases, repositories of genetic information, to decipher individual variations. However, the lack of population diversity representation in genetic research databases is a global concern, and Latin America is no exception, presenting challenges in ensuring inclusivity and relevance in genetic research and healthcare applications. Addressing this gap, our study focused on a population in the Metropolitan Region of Curitiba, Brazil, sought to uncover breast cancer-related genetic variants. Despite the modest cohort, the study identified two pathogenic and one novel candidate pathogenic variants. While a small contribution, this research endeavors to enrich the collective knowledge base surrounding breast cancer, illustrating the ongoing efforts to comprehend and address the complexities of this prevalent disease.