KRAS G12V mutation detection by droplet digital PCR in circulating cell-free DNA of colorectal cancer patients

International Journal of Molecular Sciences

Volumn 17, Issue 4, 2016, Pages 1-9

  López, Susana Olmedillas ^a   García Olmo, Dolores C ^b   García Arranz, Mariano ^a,c   Guadalajara, Héctor ^c,d   Pastor, Carlos ^a   García Olmo, Damián ^a,c  

^a HOSPITAL UNIVERSITARIO FUNDACIÓN JIMÉNEZ DÍAZ   (Spain)

^b HOSPITAL GENERAL UNIVERSITARIO DE ALBACETE   (Spain)

^c AUTONOMOUS UNIVERSITY OF MADRID   (Spain)

^d Carretera de Alpedrete a Moralzarzal   (Spain)

Author keywords

Circulating cell free DNA; Colorectal cancer; Droplet digital PCR; KRAS; Plasma

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR; K RAS PROTEIN; TUMOR MARKER; DNA; MONOCLONAL ANTIBODY; RAS PROTEIN;

ADENOCARCINOMA CELL LINE; ADULT; AGED; ARTICLE; CANCER STAGING; CANCER SURVIVAL; CIRCULATING TUMOR CELL; CLINICAL ARTICLE; COLORECTAL CANCER; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DNA EXTRACTION; DROPLET DIGITAL POLYMERASE CHAIN REACTION; FEMALE; GENE MUTATION; GENE SEQUENCE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; METASTASIS; MIDDLE AGED; POLYMERASE CHAIN REACTION; REPRODUCIBILITY; SENSITIVITY ANALYSIS; VERY ELDERLY; BLOOD; CASE CONTROL STUDY; COLORECTAL NEOPLASMS; DRUG RESISTANCE; GENETICS; MUTATION; PATHOLOGY; TUMOR CELL LINE;

ADULT; AGED; AGED, 80 AND OVER; ANTIBODIES, MONOCLONAL; BIOMARKERS, TUMOR; CASE-CONTROL STUDIES; CELL LINE, TUMOR; COLORECTAL NEOPLASMS; DNA, NEOPLASM; DRUG RESISTANCE, NEOPLASM; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; RAS PROTEINS;

EID: 84962377258     PISSN: 16616596     EISSN: 14220067     Source Type: Journal    
DOI: 10.3390/ijms17040484     Document Type: Article

References (40)

1. Mouliere, F.; El Messaoudi, S.; Pang, D.; Dritschilo, A.; Thierry, A.R. Multi-marker analysis of circulating cell-free DNA toward personalized medicine for colorectal cancer. Mol. Oncol. 2014, 8, 927-941. [CrossRef] [PubMed]
2. Heitzer, E.; Ulz, P.; Geigl, J.B. Circulating tumor DNA as a liquid biopsy for cancer. Clin. Chem. 2015, 61, 112-123. [CrossRef] [PubMed]
3. Crowley, E.; di Nicolantonio, F.; Loupakis, F.; Bardelli, A. Liquid biopsy: Monitoring cancer-genetics in the blood. Nat. Rev. Clin. Oncol. 2013, 10, 472-484. [CrossRef] [PubMed]
4. Bettegowda, C.; Sausen, M.; Leary, R.J.; Kinde, I.; Wang, Y.; Agrawal, N.; Bartlett, B.R.;Wang, H.; Luber, B.; Alani, R.M.; et al. Detection of circulating tumor DNA in early-and late-stage human malignancies. Sci. Transl. Med. 2014, 6, 224ra24. [CrossRef] [PubMed]
5. Herreros-Villanueva, M.; Chen, C.C.; Yuan, S.S.; Liu, T.C.; Er, T.K. KRAS mutations: Analytical considerations. Clin. Chim. Acta 2014, 431, 211-220. [CrossRef] [PubMed]
6. Huggett, J.F.; Whale, A. Digital PCR as a novel technology and its potential implications for molecular diagnostics. Clin. Chem. 2013, 59, 1691-1693. [CrossRef] [PubMed]
7. Vogelstein, B.; Kinzler, K.W. Digital PCR. Proc. Natl. Acad. Sci. USA 1999, 96, 9236-9241. [CrossRef] [PubMed]
8. Morley, A.A. Digital PCR: A brief history. Biomol. Detect. Quant. 2014, 1, 1-2. [CrossRef]
9. Huggett, J.F.; Cowen, S.; Foy, C.A. Considerations for digital PCR as an accurate molecular diagnostic tool. Clin. Chem. 2015, 61, 79-88. [CrossRef] [PubMed]
10. Bizouarn, F. Clinical applications using digital PCR. Methods Mol. Biol. 2014, 1160, 189-214. [PubMed]
11. Huggett, J.F.; Foy, C.A.; Benes, V.; Emslie, K.; Garson, J.A.; Haynes, R.; Hellemans, J.; Kubista, M.; Mueller, R.D.; Nolan, T.; et al. The digital MIQE guidelines: Minimum information for publication of quantitative digital PCR experiments. Clin. Chem. 2013, 59, 892-902. [CrossRef] [PubMed]
12. Azuara, D.; Ginesta, M.M.; Gausachs, M.; Rodriguez-Moranta, F.; Fabregat, J.; Busquets, J.; Pelaez, N.; Boadas, J.; Galter, S.; Moreno, V.; et al. Nanofluidic digital PCR for KRAS mutation detection and quantification in gastrointestinal cancer. Clin. Chem. 2012, 58, 1332-1341. [CrossRef] [PubMed]
13. Zhou, B.; Irwanto, A.; Guo, Y.M.; Bei, J.X.; Wu, Q.; Chen, G.; Zhang, T.P.; Lei, J.J.; Feng, Q.S.; Chen, L.Z.; et al. Exome sequencing and digital PCR analyses reveal novel mutated genes related to the metastasis of pancreatic ductal adenocarcinoma. Cancer Biol. Ther. 2012, 13, 871-879. [CrossRef] [PubMed]
14. Janku, F.; Angenendt, P.; Tsimberidou, A.M.; Fu, S.; Naing, A.; Falchook, G.S.; Hong, D.S.; Holley, V.R.; Cabrilo, G.; Wheler, J.J.; et al. Actionable mutations in plasma cell-free DNA in patients with advanced cancers referred for experimental targeted therapies. Oncotarget 2015, 6, 12809-12821. [CrossRef] [PubMed]
15. Tabernero, J.; Lenz, H.J.; Siena, S.; Sobrero, A.; Falcone, A.; Ychou, M.; Humblet, Y.; Bouche, O.; Mineur, L.; Barone, C.; et al. Analysis of circulating DNA and protein biomarkers to predict the clinical activity of regorafenib and assess prognosis in patients with metastatic colorectal cancer: A retrospective, exploratory analysis of the CORRECT trial. Lancet Oncol. 2015, 16, 937-948. [CrossRef]
16. Oxnard, G.R.; Paweletz, C.P.; Kuang, Y.; Mach, S.L.; O'Connell, A.; Messineo, M.M.; Luke, J.J.; Butaney, M.; Kirschmeier, P.; Jackman, D.M.; et al. Noninvasive detection of response and resistance in EGFR-mutant lung cancer using quantitative next-generation genotyping of cell-free plasma DNA. Clin. Cancer Res. 2014, 20, 1698-1705. [CrossRef] [PubMed]
17. Taly, V.; Pekin, D.; Benhaim, L.; Kotsopoulos, S.K.; Le Corre, D.; Li, X.; Atochin, I.; Link, D.R.; Griffiths, A.D.; Pallier, K.; et al. Multiplex picodroplet digital PCR to detect KRAS mutations in circulating DNA from the plasma of colorectal cancer patients. Clin. Chem. 2013, 59, 1722-1731. [CrossRef] [PubMed]
18. Chang, Y.S.; Er, T.K.; Lu, H.C.; Yeh, K.T.; Chang, J.G. Detection of KRAS codon 12 and 13 mutations by mutant-enriched PCR assay. Clin. Chim. Acta 2014, 436, 169-175. [CrossRef] [PubMed]
19. Tone, A.A.; McConechy, M.K.; Yang,W.; Ding, J.; Yip, S.; Kong, E.;Wong, K.K.; Gershenson, D.M.; Mackay, H.; Shah, S.; et al. Intratumoral heterogeneity in a minority of ovarian low-grade serous carcinomas. BMC Cancer 2014, 14, 982. [CrossRef] [PubMed]
20. Laurent-Puig, P.; Pekin, D.; Normand, C.; Kotsopoulos, S.K.; Nizard, P.; Perez-Toralla, K.; Rowell, R.; Olson, J.; Srinivasan, P.; Le Corre, D.; et al. Clinical relevance of KRAS-mutated subclones detected with picodroplet digital PCR in advanced colorectal cancer treated with anti-EGFR therapy. Clin. Cancer Res. 2015, 21, 1087-1097. [CrossRef] [PubMed]
21. Thierry, A.R.; Mouliere, F.; El Messaoudi, S.; Mollevi, C.; Lopez-Crapez, E.; Rolet, F.; Gillet, B.; Gongora, C.; Dechelotte, P.; Robert, B.; et al. Clinical validation of the detection of KRAS and BRAF mutations from circulating tumor DNA. Nat. Med. 2014, 20, 430-435. [CrossRef] [PubMed]
22. Al-Mulla, F.; Milner-White, E.J.; Going, J.J.; Birnie, G.D. Structural differences between valine-12 and aspartate-12 Ras proteins may modify carcinoma aggression. J. Pathol. 1999, 187, 433-438. [CrossRef]
23. Andreyev, H.J.; Norman, A.R.; Cunningham, D.; Oates, J.R.; Clarke, P.A. Kirsten ras mutations in patients with colorectal cancer: The multicenter "RASCAL" study. J. Natl. Cancer Inst. 1998, 90, 675-84. [CrossRef] [PubMed]
24. Andreyev, H.J.; Norman, A.R.; Cunningham, D.; Oates, J.; Dix, B.R.; Iacopetta, B.J.; Young, J.; Walsh, T.; Ward, R.; Hawkins, N.; et al. Kirsten ras mutations in patients with colorectal cancer: The 'RASCAL II' study. Br. J. Cancer 2001, 85, 692-696. [CrossRef] [PubMed]
25. Winder, T.; Mundlein, A.; Rhomberg, S.; Dirschmid, K.; Hartmann, B.L.; Knauer, M.; Drexel, H.;Wenzl, E.; de Vries, A.; Lang, A. Different types of K-Ras mutations are conversely associated with overall survival in patients with colorectal cancer. Oncol. Rep. 2009, 21, 1283-1287. [CrossRef] [PubMed]
26. Imamura, Y.; Morikawa, T.; Liao, X.; Lochhead, P.; Kuchiba, A.; Yamauchi, M.; Qian, Z.R.; Nishihara, R.; Meyerhardt, J.A.; Haigis, K.M.; et al. Specific mutations in KRAS codons 12 and 13, and patient prognosis in 1075 BRAF wild-type colorectal cancers. Clin. Cancer Res. 2012, 18, 4753-4763. [CrossRef] [PubMed]
27. Margonis, G.A.; Kim, Y.; Spolverato, G.; Ejaz, A.; Gupta, R.; Cosgrove, D.; Anders, R.; Karagkounis, G.; Choti, M.A.; Pawlik, T.M. Association between specific mutations in KRAS codon 12 and colorectal liver metastasis. JAMA Surg. 2015, 150, 722-729. [CrossRef] [PubMed]
28. Sanmamed, M.F.; Fernandez-Landazuri, S.; Rodriguez, C.; Zarate, R.; Lozano, M.D.; Zubiri, L.; Perez-Gracia, J.L.; Martin-Algarra, S.; Gonzalez, A. Quantitative cell-free circulating BRAFV600E mutation analysis by use of droplet digital PCR in the follow-up of patients with melanoma being treated with BRAF inhibitors. Clin. Chem. 2015, 61, 297-304. [CrossRef] [PubMed]
29. Fontanelli, G.; Barate, C.; Ciabatti, E.; Guerrini, F.; Grassi, S.; del Re, M.; Morganti, R.; Petrini, I.; Arici, R.; Barsotti, S.; et al. Real-Time PCR and Droplet Digital PCR: Two techniques for detection of the JAK2(V617F) mutation in Philadelphia-negative chronic myeloproliferative neoplasms. Int. J. Lab. Hematol. 2015, 37, 766-773. [CrossRef] [PubMed]
30. Taylor, S.C.; Carbonneau, J.; Shelton, D.N.; Boivin, G. Optimization of Droplet Digital PCR from RNA and DNA extracts with direct comparison to RT-qPCR: Clinical implications for quantification of Oseltamivir-resistant subpopulations. J. Virol. Methods 2015, 224, 58-66. [CrossRef] [PubMed]
31. Drandi, D.; Kubiczkova-Besse, L.; Ferrero, S.; Dani, N.; Passera, R.; Mantoan, B.; Gambella, M.; Monitillo, L.; Saraci, E.; Ghione, P.; et al. Minimal residual disease detection by droplet digital PCR in multiple myeloma, mantle cell lymphoma, and follicular lymphoma: A comparison with real-time PCR. J. Mol. Diagn. 2015, 17, 652-660. [CrossRef] [PubMed]
32. Mukaide, M.; Sugiyama, M.; Korenaga, M.; Murata, K.; Kanto, T.; Masaki, N.; Mizokami, M. High-throughput and sensitive next-generation droplet digital PCR assay for the quantitation of the hepatitis C virus mutation at core amino acid 70. J. Virol. Methods 2014, 207, 169-177. [CrossRef] [PubMed]
33. Olsson, E.; Winter, C.; George, A.; Chen, Y.; Howlin, J.; Tang, M.H.; Dahlgren, M.; Schulz, R.; Grabau, D.; van Westen, D.; et al. Serial monitoring of circulating tumor DNA in patients with primary breast cancer for detection of occult metastatic disease. EMBO Mol. Med. 2015, 7, 1034-1047. [CrossRef] [PubMed]
34. Dudley, J.; Tseng, L.H.; Rooper, L.; Harris, M.; Haley, L.; Chen, G.; Gocke, C.D.; Eshleman, J.R.; Lin, M.T. Challenges posed to pathologists in the detection of KRAS mutations in colorectal cancers. Arch. Pathol. Lab. Med. 2015, 139, 211-218. [CrossRef] [PubMed]
35. Reinert, T.; Scholer, L.V.; Thomsen, R.; Tobiasen, H.; Vang, S.; Nordentoft, I.; Lamy, P.; Kannerup, A.S.; Mortensen, F.V.; Stribolt, K.; et al. Analysis of circulating tumour DNA to monitor disease burden following colorectal cancer surgery. Gut 2015, 65, 625-634. [CrossRef] [PubMed]
36. Ogino, S.; Stampfer, M. Lifestyle factors and microsatellite instability in colorectal cancer: The evolving field of molecular pathological epidemiology. J. Natl. Cancer Inst. 2010, 102, 365-367. [CrossRef] [PubMed]
37. Ogino, S.; Nishihara, R.; VanderWeele, T.J.; Wang, M.; Nishi, A.; Lochhead, P.; Qian, Z.R.; Zhang, X.; Wu, K.; Nan, H.; et al. The role of molecular pathological epidemiology in the study of neoplastic and non-neoplastic diseases in the era of precision medicine. Epidemiology 2016. in press. [CrossRef] [PubMed]
38. Ogino, S.; Chan, A.T.; Fuchs, C.S.; Giovannucci, E. Molecular pathological epidemiology of colorectal neoplasia: An emerging transdisciplinary and interdisciplinary field. Gut 2011, 60, 397-411. [CrossRef] [PubMed]
39. Guttery, D.S.; Page, K.; Hills, A.; Woodley, L.; Marchese, S.D.; Rghebi, B.; Hastings, R.K.; Luo, J.; Pringle, J.H.; Stebbing, J.; et al. Noninvasive detection of activating estrogen receptor 1 (ESR1) mutations in estrogen receptor-positive metastatic breast cancer. Clin. Chem. 2015, 61, 974-982. [CrossRef] [PubMed]
40. Tsao, S.C.; Weiss, J.; Hudson, C.; Christophi, C.; Cebon, J.; Behren, A.; Dobrovic, A. Monitoring response to therapy in melanoma by quantifying circulating tumour DNA with droplet digital PCR for BRAF and NRAS mutations. Sci. Rep. 2015, 5, 11198. [CrossRef] [PubMed]