The cfDNA in early cancer detection
Abstract
Abstract No Abstract No Abstract
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7. C. Kahlert, S.A. Melo, A. Protopopov, J. Tang, S. Seth, M. Koch, J. Zhang, J. Weitz, L. Chin, A. Futreal, R. Kalluri, Identification of double-stranded genomic DNA spanning all chromosomes with mutated KRAS and p53 DNA in the serum exosomes of patients with pancreatic cancer., J. Biol. Chem. 289 (2014) 3869–75. doi:10.1074/jbc.C113.532267.
8. B.K. Thakur, H. Zhang, A. Becker, I. Matei, Y. Huang, B. Costa-Silva, Y. Zheng, A. Hoshino, H. Brazier, J. Xiang, C. Williams, R. Rodriguez-Barrueco, J.M. Silva, W. Zhang, S. Hearn, O. Elemento, N. Paknejad, K. Manova-Todorova, K. Welte, J. Bromberg, H. Peinado, D. Lyden, Double-stranded DNA in exosomes: a novel biomarker in cancer detection, Cell Res. 24 (2014) 766–769. doi:10.1038/cr.2014.44.
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[10] M. Li, W.-D. Chen, N. Papadopoulos, S.N. Goodman, N.C. Bjerregaard, S. Laurberg, B. Levin, H. Juhl, N. Arber, H. Moinova, K. Durkee, K. Schmidt, Y. He, F. Diehl, V.E. Velculescu, S. Zhou, L.A. Diaz, K.W. Kinzler, S.D. Markowitz, B. Vogelstein, Sensitive digital quantification of DNA methylation in clinical samples., Nat. Biotechnol. 27 (2009) 858–63. doi:10. 1038/nbt.1559.
11. Z. Huang, D. Hua, Y. Hu, Z. Cheng, X. Zhou, Q. Xie, Q. Wang, F. Wang, X. Du, Y. Zeng, Quantitation of plasma circulating DNA using quantitative PCR for the detection of hepatocellular carcinoma., Pathol. Oncol. Res. 18 (2012) 271–6. doi:10.1007/s12253-011-9438-z.
12. .E. Norton, J.M. Lechner, T. Williams, M.R. Fernando, A stabilizing reagent prevents cell-free DNA contamination by cellular DNA in plasma during blood sample storage and shipping as determined by digital PCR, Clin. Biochem. 46 (2013) 1561–1565. doi:10.1016/j.clinbiochem.2013.06.002.
13. K. Shoda, D. Ichikawa, Y. Fujita, K. Masuda, H. Hiramoto, J. Hamada, T. Arita, H. Konishi, S. Komatsu, A. Shiozaki, N. Kakihara, K. Okamoto, H. Taniguchi, I. Imoto, E. Otsuji, Monitoring the HER2 copy number status in circulating tumor DNA by droplet digital PCR in patients with gastric cancer, Gastric Cancer. (2017). doi:10.1007/s10120-016-0599-z.
14. Y. Shu, X. Wu, X. Tong, X. Wang, Z. Chang, Y. Mao, X. Chen, J. Sun, Z. Wang, Z. Hong, L. Zhu, C. Zhu, J. Chen, Y. Liang, H. Shao, Y.W. Shao, Circulating tumor DNA mutation profiling by targeted next generation sequencing provides guidance for personalized treatments in multiple cancer types, Sci. Rep. 7 (2017) 583. doi:10.1038/s41598-017-00520-1.
15. V.-C. Nguyen, T.H. Nguyen, T.H. Phan, T.-H.T. Tran, T.T.T. Pham, T.D. Ho, H.H.T. Nguyen, M.-L. Duong, C.M. Nguyen, Q.-T.B. Nguyen, H.-P.T. Bach, V.-V. Kim, T.-A. Pham, B.T. Nguyen, T.N.V. Nguyen, L.A.K. Huynh, V.U. Tran, T.T.T. Tran, T.D. Nguyen, D.T.B. Phu, B.H.H. Phan, Q.-T.T. Nguyen, D.-K. Truong, T.-T.T. Do, H.-N. Nguyen, M.-D. Phan, H. Giang, L.S. Tran, Fragment length profiles of cancer mutations enhance detection of circulating tumor DNA in patients with early-stage hepatocellular carcinoma, BMC Cancer. 23 (2023) 233. doi:10.1186/s12885-023-10681-0.
16. M. Bae, G. Kim, T.-R. Lee, J.M. Ahn, H. Park, S.R. Park, K.B. Song, E. Jun, D. Oh, J.-W. Lee, Y.S. Park, K.-W. Song, J.-S. Byeon, B.H. Kim, J.H. Sohn, M.H. Kim, G.M. Kim, E.K. Chie, H.-C. Kang, S.-Y. Kong, S.M. Woo, J.E. Lee, J.M. Ryu, J. Lee, D. Kim, C.-S. Ki, E.-H. Cho, J.K. Choi, Integrative modeling of tumor genomes and epigenomes for enhanced cancer diagnosis by cell-free DNA, Nat. Commun. 14 (2023) 2017. doi:10.1038/s41467-023-37768-3.
17. C. Linke, R. Hunger, M. Reinwald, M. Deckert, R. Mantke, Quantification of mitochondrial cfDNA reveals new perspectives for early diagnosis of colorectal cancer, BMC Cancer. (2023). doi:10.1186/s12885-023-10748-y.
18. Q. Gao, Q. Zeng, Z. Wang, C. Li, Y. Xu, P. Cui, X. Zhu, H. Lu, G. Wang, S. Cai, J. Wang, J. Fan, Circulating cell-free DNA for cancer early detection, Innov. 3 (2022) 100259. doi:10.1016/j.xinn.2022.100259.
19. A.M. Newman, A.F. Lovejoy, D.M. Klass, D.M. Kurtz, J.J. Chabon, F. Scherer, H. Stehr, C.L. Liu, S. V. Bratman, C. Say, L. Zhou, J.N. Carter, R.B. West, G.W. Sledge Jr, J.B. Shrager, B.W. Loo, J.W. Neal, H.A. Wakelee, M. Diehn, A.A. Alizadeh, Integrated digital error suppression for improved detection of circulating tumor DNA, Nat. Biotechnol. 34 (2016) 547–555. doi:10.1038/nbt.3520.
20. D.K. Dang, B.H. Park, Circulating tumor DNA: current challenges for clinical utility, J. Clin. Invest. 132 (2022). doi:10.1172/JCI154941.
21. S. Jaiswal, B.L. Ebert, Clonal hematopoiesis in human aging and disease, Science (80-. ). 366 (2019). doi:10.1126/science.aan4673.
22. G. Genovese, A.K. Kähler, R.E. Handsaker, J. Lindberg, S.A. Rose, S.F. Bakhoum, K. Chambert, E. Mick, B.M. Neale, M. Fromer, S.M. Purcell, O. Svantesson, M. Landén, M. Höglund, S. Lehmann, S.B. Gabriel, J.L. Moran, E.S. Lander, P.F. Sullivan, P. Sklar, H. Grönberg, C.M. Hultman, S.A. McCarroll, Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence, N. Engl. J. Med. 371 (2014) 2477–2487. doi:10.1056/NEJMoa1409405.
23. C. Bettegowda, M. Sausen, R.J. Leary, I. Kinde, Y. Wang, N. Agrawal, B.R. Bartlett, H. Wang, B. Luber, R.M. Alani, E.S. Antonarakis, N.S. Azad, A. Bardelli, H. Brem, J.L. Cameron, C.C. Lee, L.A. Fecher, et al. Med. 6 (2014). doi:10.1126/scitranslmed.3007094.
24. J. Phallen, M. Sausen, V. Adleff, A. Leal, C. Hruban, J. White, V. Anagnostou, J. Fiksel, S. Cristiano, E. Papp, S. Speir, T. Reinert, M.-B.W. Orntoft, B.D. Woodward, D. Murphy, S. Parpart-Li, et alcancers using circulating tumor DNA, Sci. Transl. Med. 9 (2017). doi:10.1126/scitranslmed.aan2415.
25. J.A. Hojbjerg, A.T. Madsen, H.H. Schmidt, S.F. Sorensen, M. Stougaard, P. Meldgaard, B.S. Sorensen, Intra‐individual variation of circulating tumour DNA in lung cancer patients, Mol. Oncol. 13 (2019) 2098–2106. doi:10.1002/1878-0261.12546.
26. F. Diehl, K. Schmidt, M.A. Choti, K. Romans, S. Goodman, M. Li, K. Thornton, N. Agrawal, L. Sokoll, S.A. Szabo, K.W. Kinzler, B. Vogelstein, L.A. Diaz Jr, Circulating mutant DNA to assess tumor dynamics, Nat. Med. 14 (2008) 985–990. doi:10.1038/nm.1789.
27. M.L. Cheng, E. Pectasides, G.J. Hanna, H.A. Parsons, A.D. Choudhury, G.R. Oxnard, Circulating tumor DNA in advanced solid tumors: Clinical relevance and future directions, CA. Cancer J. Clin. 71 (2021) 176–190. doi:10.3322/caac.21650.
28. C.T. Boniface, P.T. Spellman, Blood, toil, and taxoteres: Biological determinants of treatment-induced ctDNA dynamics for interpreting tumor response, Pathol. Oncol. Res. 28 (2022). doi:10.3389/pore.2022.1610103.
2. S.A. Leon, B. Shapiro, D.M. Sklaroff, M.J. Yaros, Free DNA in the serum of cancer patients and the effect of therapy., Cancer Res. 37 (1977) 646–50. http://www.ncbi.nlm.nih.gov/pubmed/837366.
3. Y. Chang, B. Tolani, X. Nie, X. Zhi, M. Hu, B. He, Review of the clinical applications and technological advances of circulating tumor DNA in cancer monitoring, Ther. Clin. Risk Manag. Volume 13 (2017) 1363–1374. doi:10.2147/TCRM.S141991.
4. Y. Yan, Q. Guo, F. Wang, R. Adhikari, Z. Zhu, H. Zhang, W. Zhou, H. Yu, J. Li, J. Zhang, Cell-free DNA: Hope and potential application in cancer, Front. Cell Dev. Biol. 9 (2021). doi:10.3389/fcell.2021.639233.
5. K. Fujiwara, N. Fujimoto, M. Tabata, K. Nishii, K. Matsuo, K. Hotta, T. Kozuki, M. Aoe, K. Kiura, H. Ueoka, M. Tanimoto, Identification of epigenetic aberrant promoter methylation in serum DNA is useful for early detection of lung cancer, Clin. Cancer Res. 11 (2005) 1219–1225. doi:10.1158/1078-0432.1219.11.3.
6. E. Heitzer, I.S. Haque, C.E.S. Roberts, M.R. Speicher, Current and future perspectives of liquid biopsies in genomics-driven oncology, Nat. Rev. Genet. 20 (2019) 71–88. doi:10.1038/s41576-018-0071-5.
7. C. Kahlert, S.A. Melo, A. Protopopov, J. Tang, S. Seth, M. Koch, J. Zhang, J. Weitz, L. Chin, A. Futreal, R. Kalluri, Identification of double-stranded genomic DNA spanning all chromosomes with mutated KRAS and p53 DNA in the serum exosomes of patients with pancreatic cancer., J. Biol. Chem. 289 (2014) 3869–75. doi:10.1074/jbc.C113.532267.
8. B.K. Thakur, H. Zhang, A. Becker, I. Matei, Y. Huang, B. Costa-Silva, Y. Zheng, A. Hoshino, H. Brazier, J. Xiang, C. Williams, R. Rodriguez-Barrueco, J.M. Silva, W. Zhang, S. Hearn, O. Elemento, N. Paknejad, K. Manova-Todorova, K. Welte, J. Bromberg, H. Peinado, D. Lyden, Double-stranded DNA in exosomes: a novel biomarker in cancer detection, Cell Res. 24 (2014) 766–769. doi:10.1038/cr.2014.44.
9. S. Jahr, H. Hentze, S. Englisch, D. Hardt, F.O. Fackelmayer, R.D. Hesch, R. Knippers, DNA fragments in the blood plasma of cancer patients: quantitations and evidence for their origin from apoptotic and necrotic cells., Cancer Res. 61 (2001) 1659–65. http://www.ncbi.nlm.nih.gov/pubmed/11245480.
[10] M. Li, W.-D. Chen, N. Papadopoulos, S.N. Goodman, N.C. Bjerregaard, S. Laurberg, B. Levin, H. Juhl, N. Arber, H. Moinova, K. Durkee, K. Schmidt, Y. He, F. Diehl, V.E. Velculescu, S. Zhou, L.A. Diaz, K.W. Kinzler, S.D. Markowitz, B. Vogelstein, Sensitive digital quantification of DNA methylation in clinical samples., Nat. Biotechnol. 27 (2009) 858–63. doi:10. 1038/nbt.1559.
11. Z. Huang, D. Hua, Y. Hu, Z. Cheng, X. Zhou, Q. Xie, Q. Wang, F. Wang, X. Du, Y. Zeng, Quantitation of plasma circulating DNA using quantitative PCR for the detection of hepatocellular carcinoma., Pathol. Oncol. Res. 18 (2012) 271–6. doi:10.1007/s12253-011-9438-z.
12. .E. Norton, J.M. Lechner, T. Williams, M.R. Fernando, A stabilizing reagent prevents cell-free DNA contamination by cellular DNA in plasma during blood sample storage and shipping as determined by digital PCR, Clin. Biochem. 46 (2013) 1561–1565. doi:10.1016/j.clinbiochem.2013.06.002.
13. K. Shoda, D. Ichikawa, Y. Fujita, K. Masuda, H. Hiramoto, J. Hamada, T. Arita, H. Konishi, S. Komatsu, A. Shiozaki, N. Kakihara, K. Okamoto, H. Taniguchi, I. Imoto, E. Otsuji, Monitoring the HER2 copy number status in circulating tumor DNA by droplet digital PCR in patients with gastric cancer, Gastric Cancer. (2017). doi:10.1007/s10120-016-0599-z.
14. Y. Shu, X. Wu, X. Tong, X. Wang, Z. Chang, Y. Mao, X. Chen, J. Sun, Z. Wang, Z. Hong, L. Zhu, C. Zhu, J. Chen, Y. Liang, H. Shao, Y.W. Shao, Circulating tumor DNA mutation profiling by targeted next generation sequencing provides guidance for personalized treatments in multiple cancer types, Sci. Rep. 7 (2017) 583. doi:10.1038/s41598-017-00520-1.
15. V.-C. Nguyen, T.H. Nguyen, T.H. Phan, T.-H.T. Tran, T.T.T. Pham, T.D. Ho, H.H.T. Nguyen, M.-L. Duong, C.M. Nguyen, Q.-T.B. Nguyen, H.-P.T. Bach, V.-V. Kim, T.-A. Pham, B.T. Nguyen, T.N.V. Nguyen, L.A.K. Huynh, V.U. Tran, T.T.T. Tran, T.D. Nguyen, D.T.B. Phu, B.H.H. Phan, Q.-T.T. Nguyen, D.-K. Truong, T.-T.T. Do, H.-N. Nguyen, M.-D. Phan, H. Giang, L.S. Tran, Fragment length profiles of cancer mutations enhance detection of circulating tumor DNA in patients with early-stage hepatocellular carcinoma, BMC Cancer. 23 (2023) 233. doi:10.1186/s12885-023-10681-0.
16. M. Bae, G. Kim, T.-R. Lee, J.M. Ahn, H. Park, S.R. Park, K.B. Song, E. Jun, D. Oh, J.-W. Lee, Y.S. Park, K.-W. Song, J.-S. Byeon, B.H. Kim, J.H. Sohn, M.H. Kim, G.M. Kim, E.K. Chie, H.-C. Kang, S.-Y. Kong, S.M. Woo, J.E. Lee, J.M. Ryu, J. Lee, D. Kim, C.-S. Ki, E.-H. Cho, J.K. Choi, Integrative modeling of tumor genomes and epigenomes for enhanced cancer diagnosis by cell-free DNA, Nat. Commun. 14 (2023) 2017. doi:10.1038/s41467-023-37768-3.
17. C. Linke, R. Hunger, M. Reinwald, M. Deckert, R. Mantke, Quantification of mitochondrial cfDNA reveals new perspectives for early diagnosis of colorectal cancer, BMC Cancer. (2023). doi:10.1186/s12885-023-10748-y.
18. Q. Gao, Q. Zeng, Z. Wang, C. Li, Y. Xu, P. Cui, X. Zhu, H. Lu, G. Wang, S. Cai, J. Wang, J. Fan, Circulating cell-free DNA for cancer early detection, Innov. 3 (2022) 100259. doi:10.1016/j.xinn.2022.100259.
19. A.M. Newman, A.F. Lovejoy, D.M. Klass, D.M. Kurtz, J.J. Chabon, F. Scherer, H. Stehr, C.L. Liu, S. V. Bratman, C. Say, L. Zhou, J.N. Carter, R.B. West, G.W. Sledge Jr, J.B. Shrager, B.W. Loo, J.W. Neal, H.A. Wakelee, M. Diehn, A.A. Alizadeh, Integrated digital error suppression for improved detection of circulating tumor DNA, Nat. Biotechnol. 34 (2016) 547–555. doi:10.1038/nbt.3520.
20. D.K. Dang, B.H. Park, Circulating tumor DNA: current challenges for clinical utility, J. Clin. Invest. 132 (2022). doi:10.1172/JCI154941.
21. S. Jaiswal, B.L. Ebert, Clonal hematopoiesis in human aging and disease, Science (80-. ). 366 (2019). doi:10.1126/science.aan4673.
22. G. Genovese, A.K. Kähler, R.E. Handsaker, J. Lindberg, S.A. Rose, S.F. Bakhoum, K. Chambert, E. Mick, B.M. Neale, M. Fromer, S.M. Purcell, O. Svantesson, M. Landén, M. Höglund, S. Lehmann, S.B. Gabriel, J.L. Moran, E.S. Lander, P.F. Sullivan, P. Sklar, H. Grönberg, C.M. Hultman, S.A. McCarroll, Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence, N. Engl. J. Med. 371 (2014) 2477–2487. doi:10.1056/NEJMoa1409405.
23. C. Bettegowda, M. Sausen, R.J. Leary, I. Kinde, Y. Wang, N. Agrawal, B.R. Bartlett, H. Wang, B. Luber, R.M. Alani, E.S. Antonarakis, N.S. Azad, A. Bardelli, H. Brem, J.L. Cameron, C.C. Lee, L.A. Fecher, et al. Med. 6 (2014). doi:10.1126/scitranslmed.3007094.
24. J. Phallen, M. Sausen, V. Adleff, A. Leal, C. Hruban, J. White, V. Anagnostou, J. Fiksel, S. Cristiano, E. Papp, S. Speir, T. Reinert, M.-B.W. Orntoft, B.D. Woodward, D. Murphy, S. Parpart-Li, et alcancers using circulating tumor DNA, Sci. Transl. Med. 9 (2017). doi:10.1126/scitranslmed.aan2415.
25. J.A. Hojbjerg, A.T. Madsen, H.H. Schmidt, S.F. Sorensen, M. Stougaard, P. Meldgaard, B.S. Sorensen, Intra‐individual variation of circulating tumour DNA in lung cancer patients, Mol. Oncol. 13 (2019) 2098–2106. doi:10.1002/1878-0261.12546.
26. F. Diehl, K. Schmidt, M.A. Choti, K. Romans, S. Goodman, M. Li, K. Thornton, N. Agrawal, L. Sokoll, S.A. Szabo, K.W. Kinzler, B. Vogelstein, L.A. Diaz Jr, Circulating mutant DNA to assess tumor dynamics, Nat. Med. 14 (2008) 985–990. doi:10.1038/nm.1789.
27. M.L. Cheng, E. Pectasides, G.J. Hanna, H.A. Parsons, A.D. Choudhury, G.R. Oxnard, Circulating tumor DNA in advanced solid tumors: Clinical relevance and future directions, CA. Cancer J. Clin. 71 (2021) 176–190. doi:10.3322/caac.21650.
28. C.T. Boniface, P.T. Spellman, Blood, toil, and taxoteres: Biological determinants of treatment-induced ctDNA dynamics for interpreting tumor response, Pathol. Oncol. Res. 28 (2022). doi:10.3389/pore.2022.1610103.
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Issue | Vol 15 No 1 (2023) | |
Section | Editorials | |
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cfDNA early detection cancer |
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How to Cite
1.
Abid H, Alwan S. The cfDNA in early cancer detection. Basic Clin Cancer Res. 2024;15(1):63-66.