Hereditary breast cancer next-generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported.
Mol Genet Genomic Med
; 12(8): e2504, 2024 Aug.
Article
en En
| MEDLINE
| ID: mdl-39126233
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>T, p.Gln2960Ter; CHEK2 c.1100del, p.Thr367Metfs15, and BRCA2 c.3482dup, p.Asp1161Glufs3.CONCLUSION:
BRCA2 c.3482dup, a novel candidate pathogenic variant, previously unpublished, is reported. The prevalence of pathogenic variants in this small cohort is similar to that described in the literature. All different library preparation methods were equally proficient in enabling the detection of these variants.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Neoplasias de la Mama
/
Proteína BRCA2
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Secuenciación de Nucleótidos de Alto Rendimiento
/
Quinasa de Punto de Control 2
Límite:
Adult
/
Female
/
Humans
/
Middle aged
País/Región como asunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Mol Genet Genomic Med
Año:
2024
Tipo del documento:
Article
País de afiliación:
Brasil
Pais de publicación:
Estados Unidos