Chasing the personalized medicine dream through biomarker validation in colorectal cancer

Drug Discovery Today

Volumn 22, Issue 1, 2017, Pages 111-119

  Patil, Harshali ^a,b   Saxena, Shailaja Gada ^a   Barrow, Colin J ^b   Kanwar, Jagat R ^b   Kapat, Arnab ^a   Kanwar, Rupinder K ^b  

^a RELIANCE LIFE SCIENCES PVT LTD   (India)

^b DEAKIN UNIVERSITY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ANGIOGENESIS INHIBITOR; ANTINEOPLASTIC AGENT; B RAF KINASE; BEVACIZUMAB; BIOLOGICAL MARKER; CAPECITABINE PLUS OXALIPLATIN; DIHYDROPYRIMIDINE DEHYDROGENASE; EPIDERMAL GROWTH FACTOR RECEPTOR ANTIBODY; FLUOROURACIL; FOLINIC ACID; GLUCURONOSYLTRANSFERASE 1A1; GLUTATHIONE TRANSFERASE P1; IRINOTECAN; K RAS PROTEIN; ONCOPROTEIN; PHOSPHATIDYLINOSITIDE; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN P53; THYMIDINE PHOSPHORYLASE; TUMOR MARKER;

18Q LOSS OF HETEROGENEITY; CANCER CHEMOTHERAPY; CANCER COMBINATION CHEMOTHERAPY; CANCER DIAGNOSIS; CANCER PATIENT; CANCER PROGNOSIS; CHROMOSOMAL INSTABILITY; CHROMOSOME 18Q; CHROMOSOME LOSS; CPG ISLAND; EPIGENETICS; GENETIC HETEROGENEITY; HUMAN; META ANALYSIS (TOPIC); METASTATIC COLORECTAL CANCER; MICROSATELLITE INSTABILITY; MOLECULAR DIAGNOSIS; MOLECULARLY TARGETED THERAPY; NEUROBLASTOMA; PERSONALIZED MEDICINE; PHASE 3 CLINICAL TRIAL (TOPIC); PREDICTIVE VALUE; RANDOMIZED CONTROLLED TRIAL (TOPIC); REVIEW; SYSTEMATIC REVIEW (TOPIC); TREATMENT RESPONSE; VALIDATION PROCESS; ANIMAL; COLORECTAL TUMOR; DRUG DEVELOPMENT; GENETICS; METABOLISM; PROCEDURES;

ANIMALS; ANTINEOPLASTIC COMBINED CHEMOTHERAPY PROTOCOLS; BIOMARKERS, TUMOR; COLORECTAL NEOPLASMS; DRUG DISCOVERY; HUMANS; MOLECULAR TARGETED THERAPY; PRECISION MEDICINE;

EID: 84992343495     PISSN: 13596446     EISSN: 18785832     Source Type: Journal    
DOI: 10.1016/j.drudis.2016.09.022     Document Type: Review

References (77)

1. 1 Ferlay, J., et al. Cancer incidence and mortality worldwide: sources, methods and major patterns in GLOBOCAN 2012. Int. J. Cancer 136 (2015), E359–E386.
2. 2 Zoratto, F., et al. Focus on genetic and epigenetic events of colorectal cancer pathogenesis: implications for molecular diagnosis. Tumor Biol. 35 (2014), 6195–6206.
3. 3 Howlader, N., et al. SEER Cancer Statistics Review, 1975–2008. 2011, National Cancer Institute.
4. 4 Silvestri, A., et al. Individualized therapy for metastatic colorectal cancer. J. Intern. Med. 274 (2013), 1–24.
5. 5 Colucci, G., et al. Phase III randomized trial of FOLFIRI versus FOLFOX4 in the treatment of advanced colorectal cancer: a multicenter study of the Gruppo Oncologico Dell'Italia Meridionale. J. Clin. Oncol. 23 (2005), 4866–4875.
6. 6 Koopman, M., et al. A review on the use of molecular markers of cytotoxic therapy for colorectal cancer, what have we learned?. Eur. J. Cancer 45 (2009), 1935–1949.
7. 7 Kawakami, K., Watanabe, G., Identification and functional analysis of single nucleotide polymorphism in the tandem repeat sequence of thymidylate synthase gene. Cancer Res. 63 (2003), 6004–6007.
8. 8 Choueiri, M.B., et al. ERCC1 and TS expression as prognostic and predictive biomarkers in metastatic colon cancer. PLoS ONE, 10, 2015, e0126898.
9. 9 Boisdron-Celle, M., et al. Dihydropyrimidine dehydrogenase and fluoropyrimidines: a review of current dose adaptation practices and the impact on the future of personalized medicine using 5-fluorouracil. Colorectal Cancer 2 (2013), 549–558.
10. 10 Falvella, F.S., et al. DPD and UGT1A1 deficiency in colorectal cancer patients receiving triplet chemotherapy with fluoropyrimidines, oxaliplatin and irinotecan. Br. J. Clin. Pharmacol. 80 (2015), 581–588.
11. 11 Schmoll, H.-J., et al. Capecitabine plus oxaliplatin compared with fluorouracil/folinic acid as adjuvant therapy for stage III colon cancer: final results of the NO16968 randomized controlled phase III trial. J. Clin. Oncol., 2015 Published online August 31, 2015. http://dx.doi.org/10.1200/JCO.2015.60.9107.
12. 12 Bai, W., et al. Correlations between expression levels of thymidylate synthase, thymidine phosphorylase and dihydropyrimidine dehydrogenase, and efficacy of 5-fluorouracil-based chemotherapy for advanced colorectal cancer. Int. J. Clin. Exp. Pathol. 8 (2015), 12333–12345.
13. 13 Boskos, C., et al. Thymidine phosphorylase to dihydropyrimidine dehydrogenase ratio as a predictive factor of response to preoperative chemoradiation with capecitabine in patients with advanced rectal cancer. J. Surg. Oncol. 102 (2010), 408–412.
14. 14 Zhao, M., et al. Association of methylenetetrahydrofolate reductase C677T and A1298C polymorphisms with colorectal cancer risk: a meta-analysis. Biomed. Rep. 1 (2013), 781–791.
15. 15 Wu, N-C., et al. Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and fluorouracil-based treatment in Taiwan colorectal cancer. Anticancer Drugs 26 (2015), 888–893.
16. 16 Jeon, Y.J., et al. Genetic variants in 3′-UTRs of methylenetetrahydrofolate reductase (MTHFR) predict colorectal cancer susceptibility in Koreans. Sci. Rep., 5, 2015, 11006.
17. 17 Liu, X., Xu, W., UGT1A1* 28 polymorphisms: a potential pharmacological biomarker of irinotecan-based chemotherapies in colorectal cancer. Pharmacogenomics 15 (2014), 1171–1174.
18. 18 Lu, C-Y., et al. Clinical implication of UGT1A1 promoter polymorphism for irinotecan dose escalation in metastatic colorectal cancer patients treated with bevacizumab combined with FOLFIRI in the first-line setting. Transl. Oncol. 8 (2015), 474–479.
19. 19 Hirose, K., et al. Correlation between plasma concentration ratios of SN-38 glucuronide and SN-38 and neutropenia induction in patients with colorectal cancer and wild-type UGT1A1 gene. Oncol. Lett. 3 (2012), 694–698.
20. 20 Yeh, Y-S., et al. Prospective analysis of UGT1A1 promoter polymorphism for irinotecan dose escalation in metastatic colorectal cancer patients treated with bevacizumab plus FOLFIRI as the first-line setting: study protocol for a randomized controlled trial. Trials, 17, 2016, 1.
21. 21 Song, Q-B., et al. A systemic review of glutathione S-transferase P1 Ile105Val polymorphism and colorectal cancer risk. Chin. J. Cancer Res., 26, 2014, 255.
22. 22 Febbo, P.G., et al. NCCN Task Force report: evaluating the clinical utility of tumor markers in oncology. J. Natl. Compr. Canc. Netw. 9:Suppl. 5 (2011), S1–S32.
23. 23 Lech, G., et al. Colorectal cancer tumour markers and biomarkers: recent therapeutic advances. World J. Gastroenterol., 22, 2016, 1745.
24. 24 Li, X., et al. CpG island methylator phenotype and prognosis of colorectal cancer in northeast China. BioMed Res. Int., 2014, 2014, e236361.
25. 25 Bae, J., et al. Prognostic implication of the CpG island methylator phenotype in colorectal cancers depends on tumour location. Br. J. Cancer 109 (2013), 1004–1012.
26. 26 Colussi, D., et al. Molecular pathways involved in colorectal cancer: implications for disease behavior and prevention. Int. J. Mol. Sci. 14 (2013), 16365–16385.
27. 27 Reimers, M.S., et al. Biomarkers in precision therapy in colorectal cancer. Gastroenterol. Rep. 1 (2013), 166–183.
28. 28 Ogino, S., et al. LINE-1 hypomethylation is inversely associated with microsatellite instability and CpG island methylator phenotype in colorectal cancer. Int. J. Cancer 122 (2008), 2767–2773.
29. 29 Baba, Y., et al. Epigenomic diversity of colorectal cancer indicated by LINE-1 methylation in a database of 869 tumors. Mol. Cancer, 9, 2010, 1.
30. 30 Network, C.G.A., Comprehensive molecular characterization of human colon and rectal cancer. Nature 487 (2012), 330–337.
31. 31 Kocarnik, J.M., et al. Molecular phenotypes of colorectal cancer and potential clinical applications. Gastroenterol. Rep. 3 (2015), 269–276.
32. 32 Bardhan, K., Liu, K., Epigenetics and colorectal cancer pathogenesis. Cancers 5 (2013), 676–713.
33. 33 Fakih, M.G., Metastatic colorectal cancer: current state and future directions. J. Clin. Oncol. 33 (2015), 1809–1824.
34. 34 Folkman, J., Tumor angiogenesis: therapeutic implications. N. Engl. J. Med. 285 (1971), 1182–1186.
35. 35 Duda, D.G., et al. Can we identify predictive biomarkers for antiangiogenic therapy of cancer using mathematical modeling?. J. Natl. Cancer Inst. 105 (2013), 762–765.
36. 36 Mousa, L., et al. Biomarkers of angiogenesis in colorectal cancer. Biomark. Cancer, 7(Suppl. 1), 2015, 13.
37. 37 Jürgensmeier, J., et al. Prognostic and predictive value of VEGF, sVEGFR-2 and CEA in mCRC studies comparing cediranib, bevacizumab and chemotherapy. Br. J. Cancer 108 (2013), 1316–1323.
38. 38 Hegde, P.S., et al. Predictive impact of circulating vascular endothelial growth factor in four Phase III trials evaluating bevacizumab. Clin. Cancer Res. 19 (2013), 929–937.
39. 39 Formica, V., et al. Predictive value of VEGF gene polymorphisms for metastatic colorectal cancer patients receiving first-line treatment including fluorouracil, irinotecan, and bevacizumab. Int. J. Colorectal Dis. 26 (2011), 143–151.
40. 40 Zhang, S-D., et al. The significance of combining VEGFA, FLT1, and KDR expressions in colon cancer patient prognosis and predicting response to bevacizumab. Onco Targets Ther., 8, 2015, 835.
41. 41 Pohl, M., et al. Biomarkers of anti-angiogenic therapy in metastatic colorectal cancer (mCRC): original data and review of the literature. Z. Gastroenterol. 49 (2011), 1398–1406.
42. 42 Finley, S.D., Popel, A.S., Effect of tumor microenvironment on tumor VEGF during anti-VEGF treatment: systems biology predictions. J. Natl. Cancer Inst. 105 (2013), 802–811.
43. 43 Martin, P., et al. Predicting response to vascular endothelial growth factor inhibitor and chemotherapy in metastatic colorectal cancer. BMC Cancer, 14, 2014, 1.
44. 44 Capdevila, J., et al. Anti-epidermal growth factor receptor monoclonal antibodies in cancer treatment. Cancer Treat. Rev. 35 (2009), 354–363.
45. 45 Karapetis, C.S., et al. K-ras mutations and benefit from cetuximab in advanced colorectal cancer. N. Engl. J. Med. 359 (2008), 1757–1765.
46. 46 Van Cutsem, E., et al. Fluorouracil, leucovorin, and irinotecan plus cetuximab treatment and RAS mutations in colorectal cancer. J. Clin. Oncol. 33 (2015), 692–700.
47. 47 Allegra, C.J., et al. Extended RAS gene mutation testing in metastatic colorectal carcinoma to predict response to anti-epidermal growth factor receptor monoclonal antibody therapy: American Society of Clinical Oncology provisional clinical opinion update 2015. J. Clin. Oncol. 34 (2015), 179–189.
48. 48 Kumar, S.S., et al. KRAS G13D mutation and sensitivity to cetuximab or panitumumab in a colorectal cancer cell line model. Gastrointest. Cancer Res. 7 (2014), 23–26.
49. 49 Rowland, A., et al. Meta-analysis comparing the efficacy of anti-EGFR monoclonal antibody therapy between KRAS G13D and other KRAS mutant metastatic colorectal cancer tumours. Eur. J. Cancer 55 (2016), 122–130.
50. 50 Ozen, F., et al. The proto-oncogene KRAS and BRAF profiles and some clinical characteristics in colorectal cancer in the Turkish population. Genet. Test Mol. Biomarkers 17 (2013), 135–139.
51. 51 Mao, C., et al. KRAS, BRAF and PIK3CA mutations and the loss of PTEN expression in Chinese patients with colorectal cancer. PLoS ONE, 7, 2012, e36653.
52. 52 Lambrechts, D., et al. The role of KRAS, BRAF, NRAS, and PIK3CA mutations as markers of resistance to cetuximab in chemorefractory metastatic colorectal cancer. ASCO Annu. Meet. Proc., 27, 2009, 4020.
53. 53 Patil, H., et al. KRAS gene mutations in correlation with clinicopathological features of colorectal carcinomas in Indian patient cohort. Med. Oncol. 30 (2013), 1–6.
54. 54 Fransen, K., et al. Mutation analysis of the BRAF, ARAF and RAF-1 genes in human colorectal adenocarcinomas. Carcinogenesis 25 (2004), 527–533.
55. 55 Zlobec, I., et al. Clinicopathological and protein characterization of BRAF-and K-RAS-mutated colorectal cancer and implications for prognosis. Int. J. Cancer 127 (2010), 367–380.
56. 56 Bokemeyer, C., et al. Cetuximab with chemotherapy (CT) as first-line treatment for metastatic colorectal cancer (mCRC): Analysis of the CRYSTAL and OPUS studies according to KRAS and BRAF mutation status. ASCO Annu. Meet. Proc., 28, 2010, 3506.
57. 57 Rowland, A., et al. Meta-analysis of BRAF mutation as a predictive biomarker of benefit from anti-EGFR monoclonal antibody therapy for RAS wild-type metastatic colorectal cancer. Br. J. Cancer 112 (2015), 1888–1894.
58. 58 De Roock, W., et al. Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. Lancet Oncol. 11 (2010), 753–762.
59. 59 Janku, F., et al. Bevacizumab-based treatment in colorectal cancer with a NRAS Q61K mutation. Target. Oncol. 8 (2013), 183–188.
60. 60 De Roock, W., et al. KRAS, BRAF, PIK3CA, and PTEN mutations: implications for targeted therapies in metastatic colorectal cancer. Lancet Oncol. 12 (2011), 594–603.
61. 61 Manceau, G., et al. PIK3CA mutations predict recurrence in localized microsatellite stable colon cancer. Cancer Med. 4 (2015), 371–382.
62. 62 Frattini, M., et al. PTEN loss of expression predicts cetuximab efficacy in metastatic colorectal cancer patients. Br. J. Cancer 97 (2007), 1139–1145.
63. 63 Sartore-Bianchi, A., et al. PIK3CA mutations in colorectal cancer are associated with clinical resistance to EGFR-targeted monoclonal antibodies. Cancer Res. 69 (2009), 1851–1857.
64. 64 Liu, Y., et al. TP53 loss creates therapeutic vulnerability in colorectal cancer. Nature 520 (2015), 697–701.
65. 65 Sclafani, F., et al. TP53 mutational status and cetuximab benefit in rectal cancer: 5-year results of the EXPERT-C trial. J. Natl. Cancer Inst., 106, 2014, dju121.
66. 66 Iinuma, H., et al. Usefulness and clinical significance of quantitative real-time RT-PCR to detect isolated tumor cells in the peripheral blood and tumor drainage blood of patients with colorectal cancer. Int. J. Oncol. 28 (2006), 297–306.
67. 67 Aggarwal, C., et al. Relationship among circulating tumor cells, CEA and overall survival in patients with metastatic colorectal cancer. Ann. Oncol. 24 (2013), 2708–2710.
68. 68 García-Bilbao, A., et al. Identification of a biomarker panel for colorectal cancer diagnosis. BMC Cancer, 12, 2012, 1.
69. 69 Lugli, A., et al. Prognostic impact of the expression of putative cancer stem cell markers CD133, CD166, CD44s, EpCAM, and ALDH1 in colorectal cancer. Br. J. Cancer 103 (2010), 382–390.
70. 70 Kuipers, E.J., et al. Colorectal cancer. Nat. Rev. Dis. Primers, 1, 2015, 15065.
71. 71 Lupini, L., et al. Prediction of response to anti-EGFR antibody-based therapies by multigene sequencing in colorectal cancer patients. BMC Cancer, 15, 2015, 808.
72. 72 Ogino, S., Stampfer, M., Lifestyle factors and microsatellite instability in colorectal cancer: the evolving field of molecular pathological epidemiology. J. Natl. Cancer Inst. 102 (2010), 365–367.
73. 73 Ogino, S., et al. Molecular pathological epidemiology of colorectal neoplasia: an emerging transdisciplinary and interdisciplinary field. Gut 60 (2011), 397–411.
74. 74 Ogino, S., et al. Review Article: the role of molecular pathological epidemiology in the study of neoplastic and non-neoplastic diseases in the era of precision medicine. Epidemiology 27 (2016), 602–611.
75. 75 Liao, X., et al. Aspirin use, tumor PIK3CA mutation, and colorectal-cancer survival. N. Engl. J. Med. 367 (2012), 1596–1606.
76. 76 Domingo, E., et al. Evaluation of PIK3CA mutation as a predictor of benefit from nonsteroidal anti-inflammatory drug therapy in colorectal cancer. J. Clin. Oncol. 31 (2013), 4297–4305.
77. 77 Nishihara, R., et al. Aspirin use and risk of colorectal cancer according to BRAF mutation status. JAMA 309 (2013), 2563–2571.