Blood-Based Multi-Cancer Detection Using a Novel Variant Calling Assay (DEEPGEN

DEEPGENTM cancer detection cancer screening cell-free DNA early detection liquid biopsy machine-learning

Journal

Cancers
ISSN: 2072-6694
Titre abrégé: Cancers (Basel)
Pays: Switzerland
ID NLM: 101526829

Informations de publication

Date de publication:
15 Aug 2021
Historique:
received: 26 06 2021
revised: 02 08 2021
accepted: 12 08 2021
entrez: 27 8 2021
pubmed: 28 8 2021
medline: 28 8 2021
Statut: epublish

Résumé

This is an early clinical analysis of the DEEPGENTM platform for cancer detection. Newly diagnosed cancer patients and individuals with no known malignancy were included in a prospective open-label case-controlled study (NCT03517332). Plasma cfDNA that was extracted from peripheral blood was sequenced and data were processed using machine-learning algorithms to derive cancer prediction scores. A total of 260 cancer patients and 415 controls were included in the study. Overall, sensitivity for all cancers was 57% (95% CI: 52, 64) at 95% specificity, and 43% (95% CI: 37, 49) at 99% specificity. With 51% sensitivity and 95% specificity for all stage 1 cancers, the stage-specific sensitivities trended to improve with higher stages. Early results from this preliminary clinical, prospective evaluation of the DEEPGENTM liquid biopsy platform suggests the platform offers a clinically relevant ability to differentiate individuals with and without known cancer, even at early stages of cancer.

Identifiants

pubmed: 34439258
pii: cancers13164104
doi: 10.3390/cancers13164104
pmc: PMC8392437
pii:
doi:

Types de publication

Journal Article

Langues

eng

Subventions

Organisme : Quantgene Inc.
ID : 001

Références

Blood. 2013 Aug 15;122(7):1214-21
pubmed: 23836561
Mol Diagn Ther. 2015 Dec;19(6):339-50
pubmed: 26400814
Biol Proced Online. 2013 Feb 13;15(1):4
pubmed: 23406336
BMC Health Serv Res. 2014 Sep 12;14:387
pubmed: 25217105
J Clin Oncol. 2014 Feb 20;32(6):579-86
pubmed: 24449238
J Clin Oncol. 2007 Nov 1;25(31):5009-18
pubmed: 17971601
Nat Methods. 2020 Mar;17(3):261-272
pubmed: 32015543
NPJ Precis Oncol. 2019 Jan 28;3:3
pubmed: 30701196
Genome Med. 2016 Mar 02;8(1):24
pubmed: 26932475
BMJ. 2020 Nov 4;371:m4087
pubmed: 33148535
CA Cancer J Clin. 2019 May;69(3):184-210
pubmed: 30875085
Nat Rev Clin Oncol. 2018 Sep;15(9):577-586
pubmed: 29968853
Nat Commun. 2020 Jul 21;11(1):3475
pubmed: 32694610
Nat Med. 2014 Apr;20(4):430-5
pubmed: 24658074
Nat Rev Cancer. 2010 Jan;10(1):2-3
pubmed: 20050335
Science. 2018 Feb 23;359(6378):926-930
pubmed: 29348365
Nat Rev Genet. 2010 Jan;11(1):31-46
pubmed: 19997069
Nat Rev Genet. 2019 Feb;20(2):71-88
pubmed: 30410101
Genes (Basel). 2021 Mar 30;12(4):
pubmed: 33808158
Front Immunol. 2012 Jan 12;2:98
pubmed: 22566887
N Engl J Med. 2017 Mar 30;376(13):1285-1289
pubmed: 28355509
BMC Med Genomics. 2015 Oct 01;8:58
pubmed: 26429708
Lancet Gastroenterol Hepatol. 2019 Dec;4(12):894-895
pubmed: 31648973
Carcinogenesis. 2009 Jul;30(7):1073-81
pubmed: 19468060
CA Cancer J Clin. 2021 Jan;71(1):7-33
pubmed: 33433946
JAMA. 2017 Sep 5;318(9):825-835
pubmed: 28873162
Oncotarget. 2016 Oct 11;7(41):66595-66605
pubmed: 27448974
Semin Oncol. 2009 Feb;36(1):8-37
pubmed: 19179185
JAMA Oncol. 2017 Jul 1;3(7):996-998
pubmed: 27978570
Cancers (Basel). 2019 Jun 19;11(6):
pubmed: 31248203
Sci Transl Med. 2017 Aug 16;9(403):
pubmed: 28814544
Nature. 2009 Nov 5;462(7269):108-12
pubmed: 19847166
Sci Rep. 2018 Apr 16;8(1):6041
pubmed: 29662161
Lab Chip. 2018 Apr 17;18(8):1174-1196
pubmed: 29569666
Int J Mol Sci. 2019 Jun 13;20(12):
pubmed: 31200461
Nat Rev Clin Oncol. 2019 Jul;16(7):409-424
pubmed: 30796368
Nature. 2018 Nov;563(7732):579-583
pubmed: 30429608
Heliyon. 2018 Jul 25;4(7):e00699
pubmed: 30094369

Auteurs

Frederic Ris (F)

Division of Visceral Surgery, Department of Surgery, University Hospital Geneva and Medical School, 1211 Geneva, Switzerland.

Minia Hellan (M)

Surgical Oncology, Wright State University, Dayton, OH 45435, USA.

Jonathan Douissard (J)

Division of Visceral Surgery, Department of Surgery, University Hospital Geneva and Medical School, 1211 Geneva, Switzerland.

Jorge J Nieva (JJ)

Norris Cancer Center, Keck School of Medicine of USC, University of Southern California, Los Angeles, CA 90033, USA.

Frederic Triponez (F)

Division of Thoracic Surgery, Department of Surgery, University Hospital Geneva and Medical School, 1211 Geneva, Switzerland.

Yanghee Woo (Y)

Division of Surgical Oncology, Department of Surgery and Cancer Immunotherapeutics Program, City of Hope, Duarte, CA 91010, USA.

David Geller (D)

Department of Surgery, University of Pittsburgh, Pittsburg, PA 15260, USA.

Nicolas C Buchs (NC)

Division of Visceral Surgery, Department of Surgery, University Hospital Geneva and Medical School, 1211 Geneva, Switzerland.

Leo Buehler (L)

Division of Visceral Surgery, Department of Surgery, University Hospital Fribourg, 1700 Fribourg, Switzerland.

Stefan Moenig (S)

Division of Visceral Surgery, Department of Surgery, University Hospital Geneva and Medical School, 1211 Geneva, Switzerland.

Christophe E Iselin (CE)

Division of Urology, Department of Surgery, University Hospital Geneva and Medical School, 1211 Geneva, Switzerland.

Wolfram Karenovics (W)

Division of Thoracic Surgery, Department of Surgery, University Hospital Geneva and Medical School, 1211 Geneva, Switzerland.

Patrick Petignat (P)

Divison of Gynecology, University Hospital Geneva and Medical School, 1211 Geneva, Switzerland.

Giang Thanh Lam (GT)

Divison of Gynecology, University Hospital Geneva and Medical School, 1211 Geneva, Switzerland.

Manuela Undurraga Malinervo (M)

Divison of Gynecology, University Hospital Geneva and Medical School, 1211 Geneva, Switzerland.

Rebecca Tuttle (R)

Surgical Oncology, Wright State University, Dayton, OH 45435, USA.

James Ouellette (J)

Surgical Oncology, Wright State University, Dayton, OH 45435, USA.

Debashish Bose (D)

The Center for Hepatobiliary Disease, Mercy, Baltimore, MD 21202, USA.

Nael Ismail (N)

Division of Visceral Surgery, Department of Surgery, University Hospital Geneva and Medical School, 1211 Geneva, Switzerland.

Christian Toso (C)

Division of Visceral Surgery, Department of Surgery, University Hospital Geneva and Medical School, 1211 Geneva, Switzerland.

Classifications MeSH