2026-04-14T09:21:20Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/1721862025-12-05T09:20:48Zcom_2072_1057col_2072_478799col_2072_478916col_2072_478917

00925njm 22002777a 4500 dc Cappetta, Mónica author Fernandez, Lucía author Brignoni, Lucía author Artagaveytia, Nora author Bonilla, Carolina author López de Heredia, Miguel author Esteller, Manel author Bertoni, Bernardo author Berdasco, María author 2020-11-20T10:37:52Z 2020-11-20T10:37:52Z 2020-11-03 2020-11-20T10:37:52Z 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. ADN Metilació Càncer de mama DNA Methylation Breast cancer Discovery of novel DNA methylation biomarkers for non‐invasive sporadic breast cancer detection in the Latino population