Hereditary breast cancer next-generation sequencing (NGS) panel evaluation in the south region of Brazil: a novel BRCA2 candidate pathogenic variant is reported.
medRxiv
; 2024 Feb 09.
Article
en En
| MEDLINE
| ID: mdl-38370791
ABSTRACT
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 BRCA2c.8878C>T, p.Gln2960Ter; CHEK2c.1100delAG>A, p.Thr367Metfs*15 and BRCA2c.3482dupG>GA, p.Asp1161Glufs*3, a novel variant, previously unpublished, is reported.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
País/Región como asunto:
America do sul
/
Brasil
Idioma:
En
Revista:
MedRxiv
Año:
2024
Tipo del documento:
Article
País de afiliación:
Brasil
Pais de publicación:
Estados Unidos