Direct detection of early-stage cancers using circulating tumor DNA

Jillian Phallen; Mark Sausen; Vilmos Adleff; Alessandro Leal; Carolyn Hruban; James White; Valsamo Anagnostou; Jacob Fiksel; Stephen Cristiano; Eniko Papp; Savannah Speir; Thomas Reinert; Mai-Britt Worm Orntoft; Brian D. Woodward; Derek Murphy; Sonya Parpart-Li; David Riley; Monica Nesselbush; Naomi Sengamalay; Andrew Georgiadis; Qing Kay Li; Mogens Rørbæk Madsen; Frank Viborg Mortensen; Joost Huiskens; Cornelis Punt; Nicole van Grieken; Remond Fijneman; Gerrit Meijer; Hatim Husain; Robert B. Scharpf; Luis A. Diaz; Siân Jones; Sam Angiuoli; Torben Ørntoft; Hans Jørgen Nielsen; Claus Lindbjerg Andersen; Victor E. Velculescu

doi:10.1126/scitranslmed.aan2415

Research ArticleCancer

Direct detection of early-stage cancers using circulating tumor DNA

Jillian Phallen¹,
Mark Sausen²,
Vilmos Adleff¹,
Alessandro Leal¹,
Carolyn Hruban¹,
James White¹,
Valsamo Anagnostou¹,
Jacob Fiksel¹,
Stephen Cristiano¹,
Eniko Papp¹,*,
Savannah Speir¹,
Thomas Reinert³,
Mai-Britt Worm Orntoft³,
Brian D. Woodward⁴,
Derek Murphy²,
Sonya Parpart-Li²,
David Riley²,
Monica Nesselbush²,
Naomi Sengamalay²,
Andrew Georgiadis²,
Qing Kay Li¹,
Mogens Rørbæk Madsen⁵,
Frank Viborg Mortensen⁶,
Joost Huiskens⁷,⁸,
Cornelis Punt⁸,
Nicole van Grieken⁹,
Remond Fijneman¹⁰,
Gerrit Meijer¹⁰,
Hatim Husain⁴,
Robert B. Scharpf¹,
Luis A. Diaz Jr¹,†,
Siân Jones²,
Sam Angiuoli²,
Torben Ørntoft³,
Hans Jørgen Nielsen¹¹,
Claus Lindbjerg Andersen³ and
Victor E. Velculescu¹,‡

¹The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
²Personal Genome Diagnostics, Baltimore, MD 21224, USA.
³Department of Molecular Medicine, Aarhus University Hospital, DK-8200 Aarhus, Denmark.
⁴Division of Hematology and Oncology, Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA.
⁵Department of Surgery, Herning Regional Hospital, DK-7400 Herning, Denmark.
⁶Department of Surgical Gastroenterology, Aarhus University Hospital, DK-8000 Aarhus, Denmark.
⁷Department of Surgery, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
⁸Department of Medical Oncology, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
⁹Department of Pathology, VU University Medical Center, Amsterdam 1081 HV, Netherlands.
¹⁰Department of Pathology, Netherlands Cancer Institute, Amsterdam 1066 CX, Netherlands.
¹¹Department of Surgical Gastroenterology 360, Hvidovre Hospital, Hvidovre, Denmark.

↵‡Corresponding author. Email: velculescu{at}jhmi.edu

↵* Present address: Personal Genome Diagnostics, Baltimore, MD 21224, USA.
↵† Present address: Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.

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Science Translational Medicine 16 Aug 2017:
Vol. 9, Issue 403, eaan2415
DOI: 10.1126/scitranslmed.aan2415

Jillian Phallen

The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Mark Sausen

Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Vilmos Adleff

The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Alessandro Leal

The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Carolyn Hruban

The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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James White

The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Valsamo Anagnostou

The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Jacob Fiksel

The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Stephen Cristiano

The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Eniko Papp

The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Savannah Speir

The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Thomas Reinert

Department of Molecular Medicine, Aarhus University Hospital, DK-8200 Aarhus, Denmark.

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Mai-Britt Worm Orntoft

Department of Molecular Medicine, Aarhus University Hospital, DK-8200 Aarhus, Denmark.

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Brian D. Woodward

Division of Hematology and Oncology, Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA.

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Derek Murphy

Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Sonya Parpart-Li

Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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David Riley

Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Monica Nesselbush

Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Naomi Sengamalay

Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Andrew Georgiadis

Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Qing Kay Li

The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Mogens Rørbæk Madsen

Department of Surgery, Herning Regional Hospital, DK-7400 Herning, Denmark.

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Frank Viborg Mortensen

Department of Surgical Gastroenterology, Aarhus University Hospital, DK-8000 Aarhus, Denmark.

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Joost Huiskens

Department of Surgery, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.Department of Medical Oncology, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.

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Cornelis Punt

Department of Medical Oncology, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.

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Nicole van Grieken

Department of Pathology, VU University Medical Center, Amsterdam 1081 HV, Netherlands.

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Remond Fijneman

Department of Pathology, Netherlands Cancer Institute, Amsterdam 1066 CX, Netherlands.

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Gerrit Meijer

Department of Pathology, Netherlands Cancer Institute, Amsterdam 1066 CX, Netherlands.

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Hatim Husain

Division of Hematology and Oncology, Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA.

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Robert B. Scharpf

The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Luis A. Diaz

The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Siân Jones

Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Sam Angiuoli

Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Torben Ørntoft

Department of Molecular Medicine, Aarhus University Hospital, DK-8200 Aarhus, Denmark.

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Hans Jørgen Nielsen

Department of Surgical Gastroenterology 360, Hvidovre Hospital, Hvidovre, Denmark.

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Claus Lindbjerg Andersen

Department of Molecular Medicine, Aarhus University Hospital, DK-8200 Aarhus, Denmark.

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Victor E. Velculescu

The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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For correspondence: velculescu@jhmi.edu

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Direct detection of early-stage cancers using circulating tumor DNA

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