Article
Metabolomic-driven prediction of the mutational status of healthy individuals with a family history of hereditary breast and ovarian cancer syndrome: the HRRmet study.
Scientific reports - 31 Jan 2026
Roig Bàrbara, Fernández-Castillejo Sara, Gumà Josep, Badia Joan, Melé Mireia, Salvat Mònica, Querol Montserrat, Cumeras Raquel, Rodríguez-Balada Marta
Abstract excerpt
Pathogenic variants (PVs) identified in genes involved in the DNA homologous recombination repair (HRR) mechanism are the main cause of hereditary breast and ovarian cancer syndrome (HBOC). The main objective of this study was to identify differential plasma metabolomic profiles associated with the HRR genotype in healthy individuals. Cascade testing was performed by Sanger sequencing in healthy carrier and...
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