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

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. Comprehensive next-generation sequencing (NGS) multigene panel testing was conducted, involving the evaluation of twelve patients. Two pathogenic variants and one candidate pathogenic variant were identified: BRCA2:c.8878C>T, p.Gln2960Ter; CHEK2:c.1100delAG>A, p.Thr367Metfs*15 and BRCA2:c.3482dupG>GA, p.Asp1161Glufs*3, a novel variant, previously unpublished, is reported. Author SummaryBreast cancer stands as one of the most prevalent cancers globally, affecting both genders, although it is much more common in women. Predominantly sporadic, around 5% to 10% of cases are attributed to hereditary factors, linked to specific gene mutations passed down through generations. Beyond BRCA1 and BRCA2, 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.