Article
Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.
European journal of human genetics : EJHG - 1 Jul 2025
Sanabria-Salas María Carolina, Rivera-Herrera Ana Lucía, Manotas María Carolina, Guevara Gonzalo, Gómez Ana Milena, Medina Vilma, Tapiero Sandra, Huertas Antonio, Nuñez Marcela, Torres Miguel Zamir, Riaño-Moreno Julián, Parra-Medina Rafael, Mejía Juan Carlos, Carvajal-Carmona Luis G
Abstract excerpt
Genetic studies in Latin America have expanded, but further efforts are needed to understand cancer susceptibility genes beyond BRCA1 and BRCA2, especially by characterizing the prevalence and spectrum of pathogenic or likely pathogenic variants (PVs) in the region. This study aimed to determine the frequency of hereditary cancer syndromes (HCS) in Colombians with solid tumors and to characterize the spectrum of...
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