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

Abstract 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 germ...

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Autors principals:	Diana Carolina Sierra-Díaz, Adrien Morel, Dora Janeth Fonseca-Mendoza, Nora Contreras Bravo, Nicolas Molano-Gonzalez, Mariana Borras, Isabel Munevar, Mauricio Lema, Henry Idrobo, Daniela Trujillo, Norma Serrano, Ana Isabel Orduz, Diego Lopera, Jaime González, Gustavo Rojas, Paula Londono-De Los Ríos, Ray Manneh, Rodrigo Cabrera, Wilson Rubiano, Jairo de la Peña, María Catalina Quintero, William Mantilla, Carlos M. Restrepo
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2024-06-01
Col·lecció:	Human Genomics
Matèries:	Unselected breast cancer Whole exome sequencing Pathogenic germline variants Minigene assay
Accés en línia:	https://doi.org/10.1186/s40246-024-00623-7
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