Early Detection of Ovarian Cancer Using Cell-Free DNA Fragmentomes and Protein Biomarkers

Jamie E Medina; Akshaya V Annapragada; Pien Lof; Sarah Short; Adrianna L Bartolomucci; Dimitrios Mathios; Shashikant Koul; Noushin Niknafs; Michaël Noë; Zachariah H Foda; Daniel C Bruhm; Carolyn Hruban; Nicholas A Vulpescu; Euihye Jung; Renu Dua; Jenna V Canzoniero; Stephen Cristiano; Vilmos Adleff; Heather Symecko; Daan van den Broek; Lori J Sokoll; Stephen B Baylin; Michael F Press; Dennis J Slamon; Gottfried E Konecny; Christina Therkildsen; Beatriz Carvalho; Gerrit A Meijer; Claus Lindbjerg Andersen; Susan M Domchek; Ronny Drapkin; Robert B Scharpf; Jillian Phallen; Christine A R Lok; Victor E Velculescu

doi:10.1158/2159-8290.CD-24-0393

Early Detection of Ovarian Cancer Using Cell-Free DNA Fragmentomes and Protein Biomarkers

Cancer Discov. 2025 Jan 13;15(1):105-118. doi: 10.1158/2159-8290.CD-24-0393.

Authors

Jamie E Medina^#¹, Akshaya V Annapragada^#¹, Pien Lof², Sarah Short¹, Adrianna L Bartolomucci¹, Dimitrios Mathios¹, Shashikant Koul¹, Noushin Niknafs¹, Michaël Noë¹, Zachariah H Foda¹, Daniel C Bruhm¹, Carolyn Hruban¹, Nicholas A Vulpescu¹, Euihye Jung³, Renu Dua¹, Jenna V Canzoniero¹, Stephen Cristiano¹, Vilmos Adleff¹, Heather Symecko⁴, Daan van den Broek⁵, Lori J Sokoll¹, Stephen B Baylin¹, Michael F Press⁶, Dennis J Slamon⁷, Gottfried E Konecny⁷, Christina Therkildsen⁸, Beatriz Carvalho⁹, Gerrit A Meijer⁹, Claus Lindbjerg Andersen^{10

11}, Susan M Domchek^{3

4}, Ronny Drapkin^{3

4}, Robert B Scharpf¹, Jillian Phallen¹, Christine A R Lok², Victor E Velculescu¹

Affiliations

¹ The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland.
² Department of Gynecologic Oncology, Centre of Gynecologic Oncology Amsterdam, Antoni van Leeuwenhoek Hospital-The Netherlands Cancer Institute, Amsterdam, the Netherlands.
³ Penn Ovarian Cancer Research Center, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
⁴ Basser Center for BRCA, Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania.
⁵ Department of Laboratory Medicine, Antoni van Leeuwenhoek Hospital-The Netherlands Cancer Institute, Amsterdam, the Netherlands.
⁶ Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California.
⁷ David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.
⁸ Department of Surgical Gastroenterology, Hvidovre Hospital, Hvidovre, Denmark.
⁹ Department of Pathology, Antoni van Leeuwenhoek Hospital-The Netherlands Cancer Institute, Amsterdam, the Netherlands.
¹⁰ Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
¹¹ Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.

^# Contributed equally.

Abstract

There is an unmet need for effective ovarian cancer screening and diagnostic approaches that enable earlier-stage cancer detection and increased overall survival. We have developed a high-performing accessible approach that evaluates cfDNA fragmentomes and protein biomarkers to detect ovarian cancer.

MeSH terms

Biomarkers, Tumor* / blood
Cell-Free Nucleic Acids* / blood
Early Detection of Cancer* / methods
Female
Humans
Ovarian Neoplasms* / blood
Ovarian Neoplasms* / diagnosis
Ovarian Neoplasms* / genetics

Substances

Biomarkers, Tumor
Cell-Free Nucleic Acids

Abstract

MeSH terms

Substances

Grants and funding