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

Gabriela E S FelixRodrigo Santa Cruz GuindaliniYonglan ZhengTom WalshElisabeth SveenTaisa Manuela Machado LopesJuliana CôrtesJing ZhangPolyanna CarôzoIrlânia SantosThaís Ferreira BonfimBernardo GaricocheaMaria Betânia Pereira TorallesRoberto MeyerEduardo Martins NettoKiyoko Abe-SandesMary-Claire KingIvana Lucia de Oliveira NascimentoOlufunmilayo I Olopade
Published in: Breast cancer research and treatment (2022)
The high prevalence and heterogenous spectrum of pathogenic variants identified among self-reported African descendants in Northeast Brazil is consistent with studies in other African ancestry populations with a high burden of aggressive young onset breast cancer. It underscores the need to integrate comprehensive cancer risk assessment and genomic testing in the management of newly diagnosed Black women with breast cancer across the African Diaspora, enabling improved cancer control in admixed underserved and understudied populations.
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