Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil.

doi:10.1007/s10549-022-06560-0

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Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil.

Breast cancer research and treatment - 1 Jun 2022

Felix Gabriela E S, Guindalini Rodrigo Santa Cruz, Zheng Yonglan, Walsh Tom, Sveen Elisabeth, Lopes Taisa Manuela Machado, Côrtes Juliana, Zhang Jing, Carôzo Polyanna, Santos Irlânia, Bonfim Thaís Ferreira, Garicochea Bernardo, Toralles Maria Betânia Pereira, Meyer Roberto, Netto Eduardo Martins, Abe-Sandes Kiyoko, King Mary-Claire, de Oliveira Nascimento Ivana Lucia, Olopade Olufunmilayo I

Abstract excerpt

PURPOSE: There is a paucity of data on the spectrum and prevalence of pathogenic variants among women of African ancestry in the Northeast region of Brazil. METHODS: We performed BROCA panel sequencing to identify inherited loss-of-function variants in breast cancer susceptibility genes among 292 Brazilian women referred to a single institution cancer risk assessment program. RESULTS: The study included a...

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PMID: 35353237
DOI: 10.1007/s10549-022-06560-0
PMCID: PMC9090684

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