Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients.

doi:10.1186/s40246-024-00623-7

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Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients.

Human genomics - 18 Jun 2024

Sierra-Díaz Diana Carolina, Morel Adrien, Fonseca-Mendoza Dora Janeth, Bravo Nora Contreras, Molano-Gonzalez Nicolas, Borras Mariana, Munevar Isabel, Lema Mauricio, Idrobo Henry, Trujillo Daniela, Serrano Norma, Orduz Ana Isabel, Lopera Diego, González Jaime, Rojas Gustavo, Londono-De Los Ríos Paula, Manneh Ray, Cabrera Rodrigo, Rubiano Wilson, de la Peña Jairo, Quintero María Catalina, Mantilla William, Restrepo Carlos M

Abstract excerpt

BACKGROUND: In Colombia and worldwide, breast cancer (BC) is the most frequently diagnosed neoplasia and the leading cause of death from cancer among women. Studies predominantly involve hereditary and familial cases, demonstrating a gap in the literature regarding the identification of germline mutations in unselected patients from Latin-America. Identification of pathogenic/likely pathogenic (P/LP) variants is...

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PMID: 38890714
DOI: 10.1186/s40246-024-00623-7
PMCID: PMC11184794

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