Liquid biopsies come of age: towards implementation of circulating tumour DNA

Jonathan C M Wan, Charles Massie, Javier Garcia-Corbacho, Florent Mouliere, James D Brenton, Carlos Caldas, Simon Pacey, Richard Baird, Nitzan Rosenfeld, Jonathan C M Wan, Charles Massie, Javier Garcia-Corbacho, Florent Mouliere, James D Brenton, Carlos Caldas, Simon Pacey, Richard Baird, Nitzan Rosenfeld

Abstract

Improvements in genomic and molecular methods are expanding the range of potential applications for circulating tumour DNA (ctDNA), both in a research setting and as a 'liquid biopsy' for cancer management. Proof-of-principle studies have demonstrated the translational potential of ctDNA for prognostication, molecular profiling and monitoring. The field is now in an exciting transitional period in which ctDNA analysis is beginning to be applied clinically, although there is still much to learn about the biology of cell-free DNA. This is an opportune time to appraise potential approaches to ctDNA analysis, and to consider their applications in personalized oncology and in cancer research.

References

    1. J Thorac Oncol. 2014 Sep;9(9):1345-53
    1. Exerc Immunol Rev. 2015;21:164-73
    1. Clin Cancer Res. 2016 Feb 15;22(4):915-22
    1. Cancer. 2014 Dec 15;120(24):3896-901
    1. Sci Transl Med. 2010 Dec 8;2(61):61ra91
    1. Proc Natl Acad Sci U S A. 2015 Oct 27;112(43):13336-41
    1. Mol Oncol. 2014 Jul;8(5):927-41
    1. Am J Hum Genet. 1999 Jan;64(1):218-24
    1. PLoS One. 2016 Aug 16;11(8):e0161012
    1. Proc Natl Acad Sci U S A. 2005 Nov 8;102(45):16368-73
    1. J Mol Diagn. 2004 May;6(2):101-7
    1. Int J Cancer. 2002 Aug 10;100(5):542-8
    1. Nat Commun. 2015 Nov 10;6:8839
    1. J Clin Oncol. 2013 Jan 1;31(1):17-22
    1. Clin Chem. 2002 Mar;48(3):421-7
    1. N Engl J Med. 2014 Dec 25;371(26):2477-87
    1. PLoS One. 2016 Nov 10;11(11):e0166354
    1. Cancer Res. 2006 Jul 1;66(13):6871-6
    1. JAMA Oncol. 2015 May;1(2):149-57
    1. N Engl J Med. 2013 Mar 28;368(13):1199-209
    1. Oncotarget. 2015 Feb 10;6(4):2549-61
    1. Clin Chem. 2006 Mar;52(3):345-51
    1. Oncotarget. 2016 May 17;7(20):29154-65
    1. JAMA. 2015 Jul 14;314(2):162-9
    1. Hum Mutat. 1993;2(2):112-7
    1. Nat Rev Cancer. 2011 Jun;11(6):426-37
    1. Electrophoresis. 2005 Jan;26(1):82-90
    1. Sci Transl Med. 2015 Aug 26;7(302):302ra133
    1. Science. 2014 Oct 10;346(6206):256-9
    1. Virchows Arch. 2016 Jan;468(1):43-9
    1. J Thorac Oncol. 2016 Oct;11(10):1682-9
    1. Clin Exp Immunol. 1972 Dec;12(4):465-76
    1. Int J Cancer. 2014 Nov 1;135(9):2215-22
    1. Clin Cancer Res. 2016 Feb 1;22(3):567-74
    1. PLoS Med. 2016 Dec 20;13(12):e1002198
    1. Nature. 2013 May 2;497(7447):108-12
    1. Trends Genet. 2016 Jun;32(6):360-371
    1. Nucleic Acids Res. 2010 Oct;38(18):6159-75
    1. Cancer Discov. 2016 Feb;6(2):147-153
    1. Nature. 2012 Jun 28;486(7404):537-40
    1. Genes Chromosomes Cancer. 2010 Nov;49(11):1062-9
    1. JAMA Oncol. 2016 Aug 1;2(8):1014-22
    1. Gene. 2016 Sep 15;590(1):142-8
    1. BMC Pregnancy Childbirth. 2014 Jul 16;14:229
    1. Proc Natl Acad Sci U S A. 2003 Jul 22;100(15):8817-22
    1. Clin Cancer Res. 2016 Jun 15;22(12):3067-77
    1. Clin Cancer Res. 1999 Oct;5(10):2689-92
    1. Exp Mol Pathol. 2015 Dec;99(3):485-91
    1. Ann Oncol. 2017 Apr 1;28(4):784-790
    1. Proc Natl Acad Sci U S A. 2011 Jun 7;108(23):9530-5
    1. Transl Oncol. 2015 Oct;8(5):407-416
    1. Clin Chem. 2013 Jan;59(1):211-24
    1. Clin Cancer Res. 2008 Aug 1;14(15):4809-13
    1. Sci Transl Med. 2016 Jul 6;8(346):346ra92
    1. EMBO Mol Med. 2015 Aug;7(8):1034-47
    1. J Thorac Oncol. 2015 Oct;10(10):1437-43
    1. J Mol Diagn. 2016 Jan;18(1):23-31
    1. BMC Cancer. 2012 Sep 25;12:428
    1. Nat Med. 2015 Jun;21(6):560-2
    1. Cancer Discov. 2016 May;6(5):479-91
    1. Proc Natl Acad Sci U S A. 1999 Aug 3;96(16):9236-41
    1. Nat Biotechnol. 2016 Nov 8;34(11):1090-1094
    1. Science. 2015 May 22;348(6237):880-6
    1. Cancer Res. 1977 Mar;37(3):646-50
    1. N Engl J Med. 2012 Mar 8;366(10):883-892
    1. PLoS Genet. 2014 Mar 27;10(3):e1004271
    1. Oncogene. 2013 Oct 31;32(44):5201-9
    1. PLoS One. 2015 Oct 16;10(10):e0140712
    1. Nat Med. 2015 Jul;21(7):795-801
    1. J Neurotrauma. 2014 Oct 1;31(19):1639-46
    1. PLoS One. 2014 Mar 03;9(3):e87838
    1. Exp Hematol. 2014 Aug;42(8):598-608
    1. Clin Cancer Res. 2009 Mar 15;15(6):2076-84
    1. Cancer Biol Ther. 2006 Oct;5(10):1369-74
    1. Clin Chem. 1993 Mar;39(3):448-52
    1. Sci Transl Med. 2015 Nov 11;7(313):313ra182
    1. Sci Transl Med. 2016 Nov 9;8(364):364ra155
    1. Transl Oncol. 2013 Jun 01;6(3):319-28
    1. Nature. 1959 Nov 7;184(Suppl 19):1505-6
    1. Sci Adv. 2016 Mar 25;2(3):e1501332
    1. Clin Biochem. 2016 Dec;49(18):1354-1360
    1. Oncotarget. 2016 Mar 1;7(9):9707-17
    1. Clin Chem. 2003 Jun;49(6 Pt 1):1028-9
    1. Clin Chem. 2015 Mar;61(3):514-22
    1. Mol Cancer Ther. 2016 Jun;15(6):1397-404
    1. Cancer Res. 1994 Jul 1;54(13):3568-73
    1. PLoS One. 2012;7(2):e31597
    1. Lancet. 2000 Sep 30;356(9236):1170
    1. Clin Biochem. 2013 Oct;46(15):1561-5
    1. Cell Res. 2014 Jun;24(6):766-9
    1. Mol Oncol. 2015 Apr;9(4):783-90
    1. Clin Cancer Res. 2016 Nov 15;22(22):5497-5505
    1. PLoS One. 2016 Jul 14;11(7):e0159094
    1. Biomarkers. 2012 Sep;17(6):498-506
    1. J Biol Chem. 2014 Feb 14;289(7):3869-75
    1. Sci Rep. 2016 Jun 14;6:27859
    1. PLoS One. 2012;7(7):e41162
    1. J Clin Oncol. 2016 Oct 1;34(28):3375-82
    1. PLoS One. 2011;6(9):e23418
    1. PLoS One. 2012;7(10):e48319
    1. Lancet Gastroenterol Hepatol. 2017 Jan;2(1):23-31
    1. Cancer Discov. 2016 Jan;6(1):36-44
    1. Lancet Oncol. 2014 Nov;15(12):1379-88
    1. Ann N Y Acad Sci. 2006 Sep;1075:191-6
    1. Ann Oncol. 2015 Apr;26(4):731-6
    1. Nat Commun. 2016 Jun 10;7:11815
    1. Nat Protoc. 2013 Apr;8(4):737-48
    1. Clin Cancer Res. 2016 Nov 15;22(22):5480-5486
    1. Proc Natl Acad Sci U S A. 2015 Oct 6;112(40):E5503-12
    1. Nat Methods. 2016 Sep;13(9):751-4
    1. Cancer Res. 2001 Feb 15;61(4):1659-65
    1. Nat Commun. 2016 Jun 22;7:12008
    1. Nat Med. 2008 May;14(5):579-84
    1. Sci Transl Med. 2014 Jun 18;6(241):241ra77
    1. Prenat Diagn. 2005 Dec;25(12):1111-6
    1. Am J Obstet Gynecol. 2005 Sep;193(3 Pt 1):662-7
    1. Clin Chem. 2000 Aug;46(8 Pt 1):1078-84
    1. Nat Med. 2014 May;20(5):548-54
    1. Clin Cancer Res. 2014 May 15;20(10):2643-2650
    1. J Virol Methods. 1993 Apr;42(1):127-30
    1. Clin Chem. 2015 Oct;61(10):1305-6
    1. Clin Cancer Res. 2014 Mar 15;20(6):1698-1705
    1. Clin Cancer Res. 2015 Oct 15;21(20):4586-96
    1. Ann Oncol. 2015 Aug;26(8):1715-22
    1. Lung Cancer. 2013 Mar;79(3):312-7
    1. Clin Chem. 2012 Mar;58(3):549-58
    1. Sci Transl Med. 2014 Feb 19;6(224):224ra24
    1. J Transl Med. 2016 Apr 19;14:95
    1. EBioMedicine. 2016 Aug;10:117-23
    1. Proc Natl Acad Sci U S A. 2012 Sep 4;109(36):14508-13
    1. Cancer Epidemiol Biomarkers Prev. 1994 Jan-Feb;3(1):67-71
    1. Oncology. 1989;46(5):318-22
    1. Clin Chim Acta. 2014 Jun 10;433:284-9
    1. Clin Cancer Res. 2003 Aug 15;9(9):3254-9
    1. Nat Biotechnol. 2008 Apr;26(4):462-9
    1. Cell. 2016 Jan 14;164(1-2):57-68
    1. Transl Lung Cancer Res. 2016 Aug;5(4):420-3
    1. C R Seances Soc Biol Fil. 1948 Feb;142(3-4):241-3
    1. Breast Cancer Res Treat. 2015 Apr;150(2):299-307
    1. Proc Natl Acad Sci U S A. 2015 Aug 4;112(31):9704-9
    1. Science. 1992 Apr 3;256(5053):102-5
    1. Lung Cancer. 2014 Apr;84(1):39-44
    1. Clin Chem. 2013 Dec;59(12):1722-31
    1. Proc Natl Acad Sci U S A. 1989 Apr;86(8):2757-60
    1. N Engl J Med. 2017 Feb 16;376(7):629-640
    1. Mol Oncol. 2014 Feb;8(1):150-8
    1. Nature. 2012 Jun 28;486(7404):532-6
    1. Clin Cancer Res. 2017 May 15;23(10):2471-2477
    1. Clin Cancer Res. 2007 Dec 15;13(24):7335-40
    1. Ann N Y Acad Sci. 2006 Sep;1075:299-307
    1. Nat Med. 2015 Jul;21(7):751-9
    1. Eur Urol. 2016 Jul;70(1):75-82
    1. Genome Med. 2013 Apr 05;5(4):30
    1. Clin Chim Acta. 2013 Sep 23;424:222-30
    1. Nature. 2016 Feb 11;530(7589):228-232
    1. EBioMedicine. 2016 Aug;10:227-35
    1. Lancet. 1997 Aug 16;350(9076):485-7
    1. Nat Genet. 2016 Oct;48(10):1273-8
    1. Acta Medica (Hradec Kralove). 2016;59(2):54-8
    1. Cancer Cell. 2015 Nov 9;28(5):666-676
    1. Science. 2016 Apr 8;352(6282):169-75
    1. Clin Chim Acta. 2001 Nov;313(1-2):139-42
    1. J Appl Physiol (1985). 2014 Jul 15;117(2):119-30
    1. Nucleic Acids Res. 1989 Apr 11;17(7):2503-16
    1. Cancer Prev Res (Phila). 2016 Dec;9(12):915-924
    1. Ann Oncol. 2016 Oct;27(10):1959-65
    1. BMC Med. 2016 Aug 24;14(1):126
    1. Pancreas. 1998 Jul;17(1):89-97
    1. Science. 1991 May 3;252(5006):706-9
    1. J Thorac Oncol. 2016 Oct;11(10):1690-700
    1. Nat Commun. 2015 Nov 04;6:8760
    1. PLoS One. 2016 Feb 26;11(2):e0150197
    1. Br J Cancer. 2014 Jan 7;110(1):55-62
    1. Gut. 2016 Apr;65(4):625-34
    1. Proc Natl Acad Sci U S A. 2016 Mar 29;113(13):E1826-34
    1. Clin Cancer Res. 2010 Feb 15;16(4):1324-30
    1. Genetics. 2016 Jan;202(1):37-44
    1. F1000Res. 2015 Oct 15;4:1075
    1. Sci Transl Med. 2012 Nov 28;4(162):162ra154
    1. Nucleic Acids Res. 2016 Nov 2;44(19):e146
    1. Cancer Res. 1994 Apr 1;54(7):1634-7
    1. Cancer Discov. 2015 Jul;5(7):713-22
    1. Lung Cancer. 2015 Dec;90(3):509-15
    1. Ann Oncol. 2016 May;27(5):862-7
    1. Ann Oncol. 2014 Sep;25(9):1729-35
    1. Clin Biochem. 2015 Oct;48(15):993-8
    1. Cancer Res. 2010 Jan 15;70(2):560-7
    1. Nat Commun. 2015 May 11;6:6999
    1. N Engl J Med. 2009 Aug 27;361(9):849-57
    1. Cancer Res. 2012 Jul 15;72(14):3492-8
    1. Clin Chim Acta. 2011 Feb 20;412(5-6):476-9
    1. Sci Transl Med. 2013 Jan 9;5(167):167ra4
    1. J Immunother Cancer. 2014 Dec 16;2(1):42
    1. Oncotarget. 2015 Dec 8;6(39):42008-18
    1. Sci Transl Med. 2010 Feb 24;2(20):20ra14
    1. Nat Biotechnol. 2016 May;34(5):547-555
    1. PLoS Med. 2016 Dec 27;13(12):e1002206
    1. Transl Lung Cancer Res. 2016 Aug;5(4):433-5
    1. Sci Transl Med. 2015 Nov 4;7(312):312re10
    1. Proc Natl Acad Sci U S A. 2013 Nov 19;110(47):18761-8
    1. Mutat Res. 2007 May-Jun;635(2-3):105-17
    1. Int J Cancer. 2013 Jul 15;133(2):346-56
    1. Science. 2014 Oct 10;346(6206):251-6
    1. JAMA Oncol. 2015 Sep;1(6):814-9
    1. Sci Transl Med. 2012 May 30;4(136):136ra68
    1. Oncotarget. 2017 Feb 14;8(7):12501-12516
    1. Clin Cancer Res. 2016 May 1;22(9):2197-206
    1. Int J Womens Health. 2015 Jan 16;7:113-26
    1. Nat Med. 2014 Apr;20(4):430-5
    1. Genome Res. 2015 Jun;25(6):814-24
    1. Cancer Metastasis Rev. 2016 Sep;35(3):347-76
    1. Clin Cancer Res. 2009 Apr 15;15(8):2630-6
    1. Cancer. 2013 May 15;119(10):1838-44
    1. Nucleic Acids Res. 2013 Feb 1;41(3):e50
    1. Cancer Biol Ther. 2016;17(3):246-53
    1. Clin Cancer Res. 2006 Jul 1;12(13):3915-21
    1. Clin Chem. 2015 Jun;61(6):838-49
    1. Proc Natl Acad Sci U S A. 2007 Aug 7;104(32):13116-21
    1. Am J Clin Pathol. 1995 Apr;103(4):404-8
    1. Cancer Lett. 2007 Sep 8;254(2):265-73

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