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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發表在:	Human Genomics
Main Authors:	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
格式:	Article
語言:	英语
出版:	BMC 2024-06-01
主題:	Unselected breast cancer Whole exome sequencing Pathogenic germline variants Minigene assay
在線閱讀:	https://doi.org/10.1186/s40246-024-00623-7