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BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil.

Breast cancer research and treatment - 1 May 2023

Mazzonetto Patricia, Milanezi Fernanda, D'Andrea Mariana, Martins Silvia, Monfredini Priscilla M, Dos Santos Silva Juliana, Perrone Eduardo, Villela Darine, Schnabel Beatriz, Nakano Viviane, Palmero Edenir Inez, Braggio Esteban, Cavalcanti Thereza L, Guida Gustavo, Migliavacca Michele P, Scapulatempo-Neto Cristovam, Zalcberg Ilana

Abstract excerpt

We determined the frequency and mutational spectrum of BRCA1 and BRCA2 in a series of patients at high risk for developing breast cancer from Brazil. A total of 1267 patients were referred for BRCA genetic testing, and no obligation of fulfilling criteria of mutation probability methods for molecular screening was applied. Germline deleterious mutations in BRCA1/2 (i.e., pathogenic/likely pathogenic variants)...

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PMID: 36881271
DOI: 10.1007/s10549-023-06892-5

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