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

View ORCID ProfileJillian Phallen¹,
Mark Sausen²,
Vilmos Adleff¹,
View ORCID ProfileAlessandro Leal¹,
Carolyn Hruban¹,
James White¹,
View ORCID ProfileValsamo Anagnostou¹,
View ORCID ProfileJacob Fiksel¹,
View ORCID ProfileStephen Cristiano¹,
View ORCID ProfileEniko Papp¹,*,
View ORCID ProfileSavannah Speir¹,
View ORCID ProfileThomas Reinert³,
Mai-Britt Worm Orntoft³,
View ORCID ProfileBrian D. Woodward⁴,
View ORCID ProfileDerek Murphy²,
Sonya Parpart-Li²,
David Riley²,
Monica Nesselbush²,
Naomi Sengamalay²,
Andrew Georgiadis²,
Qing Kay Li¹,
Mogens Rørbæk Madsen⁵,
Frank Viborg Mortensen⁶,
View ORCID ProfileJoost Huiskens⁷,⁸,
View ORCID ProfileCornelis Punt⁸,
View ORCID ProfileNicole van Grieken⁹,
View ORCID ProfileRemond Fijneman¹⁰,
Gerrit Meijer¹⁰,
Hatim Husain⁴,
View ORCID ProfileRobert B. Scharpf¹,
Luis A. Diaz Jr¹,†,
Siân Jones²,
View ORCID ProfileSam Angiuoli²,
View ORCID ProfileTorben Ørntoft³,
View ORCID ProfileHans Jørgen Nielsen¹¹,
View ORCID ProfileClaus Lindbjerg Andersen³ and
View ORCID ProfileVictor 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

1The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Mark Sausen

2Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Vilmos Adleff

1The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Alessandro Leal

1The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Carolyn Hruban

1The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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James White

1The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Valsamo Anagnostou

1The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Jacob Fiksel

1The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Stephen Cristiano

1The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Eniko Papp

1The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Savannah Speir

1The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Thomas Reinert

3Department of Molecular Medicine, Aarhus University Hospital, DK-8200 Aarhus, Denmark.

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Mai-Britt Worm Orntoft

3Department of Molecular Medicine, Aarhus University Hospital, DK-8200 Aarhus, Denmark.

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Brian D. Woodward

4Division of Hematology and Oncology, Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA.

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Derek Murphy

2Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Sonya Parpart-Li

2Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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David Riley

2Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Monica Nesselbush

2Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Naomi Sengamalay

2Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Andrew Georgiadis

2Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Qing Kay Li

1The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Mogens Rørbæk Madsen

5Department of Surgery, Herning Regional Hospital, DK-7400 Herning, Denmark.

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Frank Viborg Mortensen

6Department of Surgical Gastroenterology, Aarhus University Hospital, DK-8000 Aarhus, Denmark.

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Joost Huiskens

7Department of Surgery, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.

8Department of Medical Oncology, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.

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Cornelis Punt

8Department of Medical Oncology, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.

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Nicole van Grieken

9Department of Pathology, VU University Medical Center, Amsterdam 1081 HV, Netherlands.

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Remond Fijneman

10Department of Pathology, Netherlands Cancer Institute, Amsterdam 1066 CX, Netherlands.

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Gerrit Meijer

10Department of Pathology, Netherlands Cancer Institute, Amsterdam 1066 CX, Netherlands.

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Hatim Husain

4Division of Hematology and Oncology, Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA.

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Robert B. Scharpf

1The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Luis A. Diaz Jr

1The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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Siân Jones

2Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Sam Angiuoli

2Personal Genome Diagnostics, Baltimore, MD 21224, USA.

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Torben Ørntoft

3Department of Molecular Medicine, Aarhus University Hospital, DK-8200 Aarhus, Denmark.

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Hans Jørgen Nielsen

11Department of Surgical Gastroenterology 360, Hvidovre Hospital, Hvidovre, Denmark.

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Claus Lindbjerg Andersen

3Department of Molecular Medicine, Aarhus University Hospital, DK-8200 Aarhus, Denmark.

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Victor E. Velculescu

1The 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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