| Autor: |
Duarte CAB; Research and Development Division, Genoprimer Diagnóstico Molecular, Curitiba, Paraná, Brazil., Dos Santos CA; Clinimol Diagnóstico Molecular, Molecular Biology Clinical Laboratory, São Paulo, São Paulo, Brazil., de Oliveira CDD; Clinimol Diagnóstico Molecular, Molecular Biology Clinical Laboratory, São Paulo, São Paulo, Brazil., Spautz CC; Hospital Nossa Senhora das Graças, Department of Surgery, Curitiba, Paraná, Brazil., Sumita LM; Clinimol Diagnóstico Molecular, Molecular Biology Clinical Laboratory, São Paulo, São Paulo, Brazil., Nakatani SM; Research and Development Division, Genoprimer Diagnóstico Molecular, Curitiba, Paraná, Brazil. |
| Abstrakt: |
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GA, p.Asp1161Glufs*3, a novel variant, previously unpublished, is reported. |
