Direct detection of early-stage cancers using circulating tumor DNA

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

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

I: Science Translational Medicine, Bind 9, Nr. 403, eaan2415, 16.08.2017.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Phallen, J, Sausen, M, Adleff, V, Leal, A, Hruban, C, White, J, Anagnostou, V, Fiksel, J, Cristiano, S, Papp, E, Speir, S, Reinert, T, Orntoft, M-BW, Woodward, BD, Murphy, D, Parpart-Li, S, Riley, D, Nesselbush, M, Sengamalay, N, Georgiadis, A, Li, QK, Madsen, MR, Mortensen, FV, Huiskens, J, Punt, C, van Grieken, N, Fijneman, R, Meijer, G, Husain, H, Scharpf, RB, Diaz, LA, Jones, S, Angiuoli, S, Ørntoft, T, Nielsen, HJ, Andersen, CL & Velculescu, VE 2017, 'Direct detection of early-stage cancers using circulating tumor DNA', Science Translational Medicine, bind 9, nr. 403, eaan2415. https://doi.org/10.1126/scitranslmed.aan2415

APA

Phallen, J., Sausen, M., Adleff, V., Leal, A., Hruban, C., White, J., Anagnostou, V., Fiksel, J., Cristiano, S., Papp, E., Speir, S., Reinert, T., Orntoft, M-B. W., Woodward, B. D., Murphy, D., Parpart-Li, S., Riley, D., Nesselbush, M., Sengamalay, N., ... Velculescu, V. E. (2017). Direct detection of early-stage cancers using circulating tumor DNA. Science Translational Medicine, 9(403), [eaan2415]. https://doi.org/10.1126/scitranslmed.aan2415

Vancouver

Phallen J, Sausen M, Adleff V, Leal A, Hruban C, White J o.a. Direct detection of early-stage cancers using circulating tumor DNA. Science Translational Medicine. 2017 aug. 16;9(403). eaan2415. https://doi.org/10.1126/scitranslmed.aan2415

Author

Phallen, Jillian ; Sausen, Mark ; Adleff, Vilmos ; Leal, Alessandro ; Hruban, Carolyn ; White, James ; Anagnostou, Valsamo ; Fiksel, Jacob ; Cristiano, Stephen ; Papp, Eniko ; Speir, Savannah ; Reinert, Thomas ; Orntoft, Mai-Britt Worm ; Woodward, Brian D ; Murphy, Derek ; Parpart-Li, Sonya ; Riley, David ; Nesselbush, Monica ; Sengamalay, Naomi ; Georgiadis, Andrew ; Li, Qing Kay ; Madsen, Mogens Rørbæk ; Mortensen, Frank Viborg ; Huiskens, Joost ; Punt, Cornelis ; van Grieken, Nicole ; Fijneman, Remond ; Meijer, Gerrit ; Husain, Hatim ; Scharpf, Robert B ; Diaz, Luis A ; Jones, Siân ; Angiuoli, Sam ; Ørntoft, Torben ; Nielsen, Hans Jørgen ; Andersen, Claus Lindbjerg ; Velculescu, Victor E. / Direct detection of early-stage cancers using circulating tumor DNA. I: Science Translational Medicine. 2017 ; Bind 9, Nr. 403.

Bibtex

@article{bb236fd18d5b4a86ae7137ac25d9703e,

title = "Direct detection of early-stage cancers using circulating tumor DNA",

abstract = "Early detection and intervention are likely to be the most effective means for reducing morbidity and mortality of human cancer. However, development of methods for noninvasive detection of early-stage tumors has remained a challenge. We have developed an approach called targeted error correction sequencing (TEC-Seq) that allows ultrasensitive direct evaluation of sequence changes in circulating cell-free DNA using massively parallel sequencing. We have used this approach to examine 58 cancer-related genes encompassing 81 kb. Analysis of plasma from 44 healthy individuals identified genomic changes related to clonal hematopoiesis in 16% of asymptomatic individuals but no alterations in driver genes related to solid cancers. Evaluation of 200 patients with colorectal, breast, lung, or ovarian cancer detected somatic mutations in the plasma of 71, 59, 59, and 68%, respectively, of patients with stage I or II disease. Analyses of mutations in the circulation revealed high concordance with alterations in the tumors of these patients. In patients with resectable colorectal cancers, higher amounts of preoperative circulating tumor DNA were associated with disease recurrence and decreased overall survival. These analyses provide a broadly applicable approach for noninvasive detection of early-stage tumors that may be useful for screening and management of patients with cancer.",

keywords = "Blood Cells/metabolism, Case-Control Studies, Cell-Free Nucleic Acids/blood, Circulating Tumor DNA/blood, Disease Progression, Early Detection of Cancer/methods, Female, Genes, Neoplasm, Humans, Mutation/genetics, Neoplasm Staging, Neoplasms/blood, Preoperative Care, Sequence Analysis, DNA, Treatment Outcome",

author = "Jillian Phallen and Mark Sausen and Vilmos Adleff and Alessandro Leal and Carolyn Hruban and James White and Valsamo Anagnostou and Jacob Fiksel and Stephen Cristiano and Eniko Papp and Savannah Speir and Thomas Reinert and Orntoft, {Mai-Britt Worm} and Woodward, {Brian D} and Derek Murphy and Sonya Parpart-Li and David Riley and Monica Nesselbush and Naomi Sengamalay and Andrew Georgiadis and Li, {Qing Kay} and Madsen, {Mogens R{\o}rb{\ae}k} and Mortensen, {Frank Viborg} and Joost Huiskens and Cornelis Punt and {van Grieken}, Nicole and Remond Fijneman and Gerrit Meijer and Hatim Husain and Scharpf, {Robert B} and Diaz, {Luis A} and Si{\^a}n Jones and Sam Angiuoli and Torben {\O}rntoft and Nielsen, {Hans J{\o}rgen} and Andersen, {Claus Lindbjerg} and Velculescu, {Victor E}",

note = "Copyright {\textcopyright} 2017 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.",

year = "2017",

month = aug,

day = "16",

doi = "10.1126/scitranslmed.aan2415",

language = "English",

volume = "9",

journal = "Science Translational Medicine",

issn = "1946-6234",

publisher = "american association for the advancement of science",

number = "403",

}

RIS

TY - JOUR

T1 - Direct detection of early-stage cancers using circulating tumor DNA

AU - Phallen, Jillian

AU - Sausen, Mark

AU - Adleff, Vilmos

AU - Leal, Alessandro

AU - Hruban, Carolyn

AU - White, James

AU - Anagnostou, Valsamo

AU - Fiksel, Jacob

AU - Cristiano, Stephen

AU - Papp, Eniko

AU - Speir, Savannah

AU - Reinert, Thomas

AU - Orntoft, Mai-Britt Worm

AU - Woodward, Brian D

AU - Murphy, Derek

AU - Parpart-Li, Sonya

AU - Riley, David

AU - Nesselbush, Monica

AU - Sengamalay, Naomi

AU - Georgiadis, Andrew

AU - Li, Qing Kay

AU - Madsen, Mogens Rørbæk

AU - Mortensen, Frank Viborg

AU - Huiskens, Joost

AU - Punt, Cornelis

AU - van Grieken, Nicole

AU - Fijneman, Remond

AU - Meijer, Gerrit

AU - Husain, Hatim

AU - Scharpf, Robert B

AU - Diaz, Luis A

AU - Jones, Siân

AU - Angiuoli, Sam

AU - Ørntoft, Torben

AU - Nielsen, Hans Jørgen

AU - Andersen, Claus Lindbjerg

AU - Velculescu, Victor E

PY - 2017/8/16

Y1 - 2017/8/16

N2 - Early detection and intervention are likely to be the most effective means for reducing morbidity and mortality of human cancer. However, development of methods for noninvasive detection of early-stage tumors has remained a challenge. We have developed an approach called targeted error correction sequencing (TEC-Seq) that allows ultrasensitive direct evaluation of sequence changes in circulating cell-free DNA using massively parallel sequencing. We have used this approach to examine 58 cancer-related genes encompassing 81 kb. Analysis of plasma from 44 healthy individuals identified genomic changes related to clonal hematopoiesis in 16% of asymptomatic individuals but no alterations in driver genes related to solid cancers. Evaluation of 200 patients with colorectal, breast, lung, or ovarian cancer detected somatic mutations in the plasma of 71, 59, 59, and 68%, respectively, of patients with stage I or II disease. Analyses of mutations in the circulation revealed high concordance with alterations in the tumors of these patients. In patients with resectable colorectal cancers, higher amounts of preoperative circulating tumor DNA were associated with disease recurrence and decreased overall survival. These analyses provide a broadly applicable approach for noninvasive detection of early-stage tumors that may be useful for screening and management of patients with cancer.

AB - Early detection and intervention are likely to be the most effective means for reducing morbidity and mortality of human cancer. However, development of methods for noninvasive detection of early-stage tumors has remained a challenge. We have developed an approach called targeted error correction sequencing (TEC-Seq) that allows ultrasensitive direct evaluation of sequence changes in circulating cell-free DNA using massively parallel sequencing. We have used this approach to examine 58 cancer-related genes encompassing 81 kb. Analysis of plasma from 44 healthy individuals identified genomic changes related to clonal hematopoiesis in 16% of asymptomatic individuals but no alterations in driver genes related to solid cancers. Evaluation of 200 patients with colorectal, breast, lung, or ovarian cancer detected somatic mutations in the plasma of 71, 59, 59, and 68%, respectively, of patients with stage I or II disease. Analyses of mutations in the circulation revealed high concordance with alterations in the tumors of these patients. In patients with resectable colorectal cancers, higher amounts of preoperative circulating tumor DNA were associated with disease recurrence and decreased overall survival. These analyses provide a broadly applicable approach for noninvasive detection of early-stage tumors that may be useful for screening and management of patients with cancer.

KW - Blood Cells/metabolism

KW - Case-Control Studies

KW - Cell-Free Nucleic Acids/blood

KW - Circulating Tumor DNA/blood

KW - Disease Progression

KW - Early Detection of Cancer/methods

KW - Female

KW - Genes, Neoplasm

KW - Humans

KW - Mutation/genetics

KW - Neoplasm Staging

KW - Neoplasms/blood

KW - Preoperative Care

KW - Sequence Analysis, DNA

KW - Treatment Outcome

U2 - 10.1126/scitranslmed.aan2415

DO - 10.1126/scitranslmed.aan2415

M3 - Journal article

C2 - 28814544

VL - 9

JO - Science Translational Medicine

JF - Science Translational Medicine

SN - 1946-6234

IS - 403

M1 - eaan2415

ER -

ID: 196007473