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Article

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific reports - 9 Mar 2022

Guindalini Rodrigo Santa Cruz, Viana Danilo Vilela, Kitajima João Paulo Fumio Whitaker, Rocha Vinícius Marques, López Rossana Verónica Mendoza, Zheng Yonglan, Freitas Érika, Monteiro Fabiola Paoli Mendes, Valim André, Schlesinger David, Kok Fernando, Olopade Olufunmilayo I, Folgueira Maria Aparecida Azevedo Koike

Abstract excerpt

Genetic diversity of germline variants in breast cancer (BC) predisposition genes is unexplored in miscegenated populations, such those living in Latin America. We evaluated 1663 Brazilian BC patients, who underwent hereditary multigene panel testing (20-38 cancer susceptibility genes), to determine the spectrum and prevalence of pathogenic/likely pathogenic (P/LP) variants and variants of uncertain significance...

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Identifiers

PMID: 35264596
DOI: 10.1038/s41598-022-07383-1
PMCID: PMC8907244

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