PhD Scientific Days 2024
Budapest, 9-10 July 2024
Pathological and Oncological Sciences II.
Detection of homologous recombination deficiency using cell-free DNA whole-genome sequencing profile in ovarian cancer
Előadó neve
Balla, Abigél, MSc
Neptun code
RBS1YY
Előadó munkahelye
Semmelweis University Doctoral School, Surgical Medicine Division; Clinomics Europe Ltd.
Előadó telefonszáma
06300130780
Előadó e-mail címe
balla.abigel@phd.semmelweis.hu
Az előadás címe
Detection of homologous recombination deficiency using cell-free DNA whole-genome sequencing profile in ovarian cancer
Szerző(k) neve és munkahelye
Abigél Balla1,2, Péter Hunyadi1, Szabolcs Máté3, Ágnes Égető3, János Rigó Jr.2,3, Jakub Styk4, Silvia Bokorová4, Tatiana Sedláčková4, Tomas Szemes4, Orsolya Biró1, Orsolya Biro2
1: Clinomics Europe Ltd.
2: Semmelweis University Doctoral School, Surgical Medicine Division
3: Semmelweis University, Faculty of Medicine, Dept. of Obstetrics and Gynecology
4: Comenius University Science Park
Bemutatás módja
Szóbeli
Szekció
Pathological and Oncological Sciences II.
Language of the presentation
Hungarian
Preferred session
Pathological and Oncological Sciences
Összefoglaló szövege
Introduction: Ovarian cancer is a gynecological malignancy with the highest mortality rate. The primary type of ovarian cancer is high-grade serous carcinoma (HGSC), with 50% of cases exhibiting homologous recombination deficiency (HRD). HRD-positive tumors respond favorably to platinum-based chemotherapy and poly(ADP-ribose) polymerase (PARP) inhibitors. Currently, determining HRD status necessitates expensive and time-consuming genomic profiling from tissue samples. Therefore, the development of new, broadly applicable methods is of paramount importance.
Aims: The objective of this study is to investigate the potential of shallow whole-genome sequencing (sWGS) on cell-free DNA (cfDNA) for therapy optimization in ovarian cancer.
Methods: The study included 17 HGSC patients and 8 control patients. cfDNA was isolated from their plasma samples and sWGS was performed with 1-1.5x coverage. Downstream analyses, including fragment size examination and identification of copy number variations using the ichorCNA method, were conducted using the sequencing data. Large genomic alterations (LGA) are indicators of the HRD phenotype, and their quantitative determination allows for the assessment of HRD status.
Results: It is well-established that the concentration of cfDNA is elevated in cancer patients, a fact that our examination of samples also confirmed. Our results also showed that the average length of cfDNA reads is typically longer than the size of tumor-derived fragments. Specifically, we found significant differences between cfDNA fragments from control and HGSC samples. Using the inchorCNA method, we identified 7 HGSC samples with more than 20 LGA variants (which we defined as a cut-off value) and considered them HRD-positive.
Conclusion: In summary, cell-free DNA sWGS is a cost-effective method that can aid in the selection of personalized therapy for ovarian cancer patients based on their HRD status. Further investigations are planned on a larger patient cohort.
University
Semmelweis University
Supervisor
Orsolya Biró PhD
Publication of my abstract
I do not give consent to the publication of my abstract on the website of the congress.
Kind
Szabad
Status
elfogadva
Accepted presentation method
szóbeli
Előadás fájl jóváhagyás
nem rendelkezett róla
Előadó
8015
Start
16:30
End
16:40