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

Molecular genetics & genomic medicine - 1 Aug 2024

Duarte Cesar Augusto B, Dos Santos Carlos Alberto, de Oliveira Cristine Domingues D, Spautz Cleverton César, Sumita Laura Masami, Nakatani Sueli Massumi

Abstract excerpt

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...

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PMID: 39126233
DOI: 10.1002/mgg3.2504
PMCID: PMC11316010

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