Discovery of novel DNA methylation biomarkers for non‐invasive sporadic breast cancer detection in the Latino population

Human diversity is one of the main pitfalls in the development of robust worldwide biomarkers in oncology. Epigenetic variability across human populations are associated with different genetic backgrounds, as well as variable lifestyles and environmental exposures, each of which should be investigat...

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Detalles Bibliográficos
Autores: Cappetta, Mónica, Fernandez, Lucía, Brignoni, Lucía, Artagaveytia, Nora, Bonilla, Carolina, López de Heredia, Miguel, Esteller, Manel, Bertoni, Bernardo, Berdasco, María
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2020
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/172186
Acceso en línea:https://hdl.handle.net/2445/172186
Access Level:acceso abierto
Palabra clave:ADN
Metilació
Càncer de mama
DNA
Methylation
Breast cancer
Descripción
Sumario:Human diversity is one of the main pitfalls in the development of robust worldwide biomarkers in oncology. Epigenetic variability across human populations are associated with different genetic backgrounds, as well as variable lifestyles and environmental exposures, each of which should be investigated. To identify potential non-invasive biomarkers of sporadic breast cancer in the Uruguayan population, we studied genome-wide DNA methylation using Illumina methylation arrays in leukocytes of 22 women with sporadic breast cancer and 10 healthy women in a case-control study. We described a panel of 38 differentially methylated CpG positions that was able to cluster breast cancer patients and controls, and that also recapitulated methylation differences in 12 primary breast tumors and their matched normal breast tissue. Moving forward we simplified the detection method to improve its applicability in a clinical setting, and used an independent well-characterized cohort of 80 leukocyte DNA samples from breast cancer patients and 80 healthy controls to validate methylation results at specific cancer-related genes. Our investigations identified methylation at CYFIP1 as a novel epigenetic biomarker candidate for sporadic breast cancer in the Uruguayan population. These results provide a proof-of-concept for the design of larger studies aimed at validating biomarker panels for the Latin American population.