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Similarities and differences in gene expression profiles of BRCA1 methylated and mutated epithelial ovarian cancers
Nora Sahnane1,2, Laura Libera2,3, Sofia Facchi2,3
1Unit of Pathology, Azienda Socio Sanitaria Territoriale (ASST) Sette Laghi, Varese, Italy.
Introduction:
BRCA1 methylated (BRCA1) epithelial ovarian cancer (EOC) is a recently defined and not well-investigated subset of neoplasms. To date, no studies have focused on the transcriptional profiles of BRCA1 cases, and, as a matter of fact, we still do not know if this subset of EOCs is similar, and to what extent, to BRCA1 mutated (BRCA1) cases.
Methods:
We compared a group of 17 BRCA1 cases against 10 BRCA1 cases using a subset of carefully selected 17 BRCA EOCs as a control group.
Results:
First, BRCA1 cases showed a downregulation of the relative transcript, while this association was not observed for BRCA1 EOCs. The BRCA1 group exhibited a general upregulation of homologous recombination (HR)-related genes, as well as BRCA1. Overall, BRCA1 had a different gene expression profile, characterized by diffuse downregulation, whereas BRCA1 showed a general upregulation (p < 0.0001). Both BRCA1-defective groups showed a slightly activated immune response mediated by interferon (IFN) gamma pathways.
Discussion:
In conclusion, even if the expression profile of many genes related to DNA damage and repair system is shared between BRCA1 and BRCA1 EOCs supporting that BRCA1 EOCs may benefit from PARPi therapies, our data demonstrate that BRCA1 and BRCA1 EOCs show different expression profiles, suggesting a different mechanism of carcinogenesis that can be reflected in different responses to therapies and disease recovery.
