DR-429 Structural Variation Signatures and ABC transporters in Ovarian Cancer

This project explores the genomic heterogeneity of high-grade serous ovarian carcinoma (HGSC) by developing a method to identify structural variation (SV) and copy number variation (CNV) signatures.The analysis of over 600 patient samples revealed distinct genomic signatures, identifying different SV patterns and mechanisms, such as CDK12-driven tandem duplications, CCNE1 amplifications, and distinguished homologous recombination-deficient (HRD) and proficient (HRP) subtypes. The findings offer a refined classification, identifying six patient clusters, including novel HRP subgroups and provide a valuable framework that will be used to get new insights in the treatment resistance driven by ABC transporters. These results can guide personalized treatment strategies by linking specific genomic profiles to biological processes and survival outcomes, enhancing the understanding of HGSC heterogeneity and treatment resistance.

Sampsa Hautaniemi, University of Helsinki, Finland