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

ABSTRACT:

Background

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.

Methods

Comprehensive next-generation sequencing (NGS) multigene panel testing was conducted on 12 patients from the region, utilizing three different library preparation methods.

Results

Two pathogenic variants and one candidate pathogenic variant were identified: BRCA2 c.8878C>

SUBMITTER: Duarte CAB 

PROVIDER: S-EPMC11316010 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature