Detection of circulating tumor DNA by tumor-informed whole-genome sequencing enables prediction of recurrence in stage III colorectal cancer patients.

Amanda Frydendahl¹, Jesper Nors¹, Mads H Rasmussen¹, Tenna V Henriksen¹, Marijana Nesic¹, Thomas Reinert¹, Danielle Afterman², Tomer Lauterman², Maja Kuzman³, Santiago Gonzalez³, Dunja Glavas³, James Smadback³, Dillon Maloney³, Jurica Levativ³, Michael Yahalom³, Ryan Ptashkin³, Iman Tavassoly³, Zohar Donenhirsh², Eric White³, Ravi Kandasamy³, Ury Alon², Iver Nordentoft¹, Sia V Lindskrog¹, Lars Dyrskjøt¹, Claudia Jaensch⁴, Uffe S Løve⁵, Per V Andersen⁶, Ole Thorlacius-Ussing⁷, Lene H Iversen⁸, Kåre A Gotschalck⁹, Asaf Zviran³, Boris Oklander², Claus L Andersen¹⁰

¹Department of Molecular Medicine, Aarhus University Hospital, Denmark; Department of Clinical Medicine, Aarhus University, Denmark.

²C2i Genomics, Ltd., Haifa, Israel.

³C2i Genomics Inc., New York, NY 10014, USA.

⁴Department of Surgery, Herning Regional Hospital, Denmark.

⁵Department of Surgery, Viborg Regional Hospital, Denmark.

⁶Department of Surgery, Odense University Hospital, Denmark.

⁷Department of Surgical Gastroenterology, Aalborg University Hospital, Denmark.

⁸Department of Clinical Medicine, Aarhus University, Denmark; Department of Surgery, Aarhus University Hospital, Denmark.

⁹Department of Clinical Medicine, Aarhus University, Denmark; Department of Surgery, Randers Regional Hospital, Denmark.

¹⁰Department of Molecular Medicine, Aarhus University Hospital, Denmark; Department of Clinical Medicine, Aarhus University, Denmark. Electronic address: cla@clin.au.dk.

PubMed DOI

Abstract

INTRODUCTION: Circulating tumor (ctDNA) can be used to detect residual disease after cancer treatment. Detecting low-level ctDNA is challenging, due to the limited number of recoverable ctDNA fragments at any target loci. In response, we applied tumor-informed whole-genome sequencing (WGS), leveraging thousands of mutations for ctDNA detection. METHODS: Performance was evaluated in serial plasma…

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