Review of biomarkers in colorectal cancer

Colorectal Disease

Volumn 14, Issue 1, 2012, Pages 3-17

  Newton, K F ^a   Newman, W ^b   Hill, J ^a  

^a MANCHESTER ROYAL INFIRMARY   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

Biomarkers; Colorectal cancer

Indexed keywords

B RAF KINASE; BIOLOGICAL MARKER; FLUOROURACIL; IRINOTECAN; MISMATCH REPAIR PROTEIN; TUMOR MARKER;

BONE MARROW SUPPRESSION; CANCER DIAGNOSIS; CARDIOTOXICITY; COLORECTAL CANCER; DIARRHEA; DNA METHYLATION; DRUG EFFICACY; DYPD GENE; EMBASE; GENE; GENE MUTATION; HAND FOOT SYNDROME; HEMATOLOGIC DISEASE; HUMAN; IMMUNOHISTOCHEMISTRY; MEDLINE; MUCOSA INFLAMMATION; NEUTROPENIA; ONCOGENE K RAS; PREDICTIVE VALUE; PRIORITY JOURNAL; REVIEW; SEPTIN 9 GENE; UGT1A1 GENE;

ANTINEOPLASTIC AGENTS; COLORECTAL NEOPLASMS; DIAGNOSIS, DIFFERENTIAL; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MASS SCREENING; PREDICTIVE VALUE OF TESTS; PROGNOSIS; RISK ASSESSMENT; TUMOR MARKERS, BIOLOGICAL;

EID: 83255186829     PISSN: 14628910     EISSN: 14631318     Source Type: Journal    
DOI: 10.1111/j.1463-1318.2010.02439.x     Document Type: Review

References (100)

1. Weitz J, Koch M, Debus J, Hohler T, Galle PR, Buchler MW. Colorectal cancer. Lancet 2005; 365: 153-65.
2. Soreide K, Nedrebo BS, Knapp JC, Glomsaker TB, Soreide JA, Korner H. Evolving molecular classification by genomic and proteomic biomarkers in colorectal cancer: potential implications for the surgical oncologist. Surg Oncol 2009; 18: 31-50.
3. Pleasance ED, Stephens PJ, O'Meara S et al. A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature 2010; 463(7278): 184-90.
4. Van Limbergen J, Russell RK, Nimmo ER, Satsangi J. The genetics of inflammatory bowel disease. Am J Gastroenterol 2007; 102: 2820-31.
5. Garcia Rodriguez LA, Ruigomez A, Panes J. Acute gastroenteritis is followed by an increased risk of inflammatory bowel disease. Gastroenterology 2006; 130: 1588-94.
6. Vineis P, Perera F. Molecular epidemiology and biomarkers in etiologic cancer research: the new in light of the old. Cancer Epidemiol Biomarkers Prev 2007; 16: 1954-65.
7. Brenner DE, Normolle DP. Biomarkers for cancer risk, early detection, and prognosis: the validation conundrum. Cancer Epidemiol Biomarkers Prev 2007; 16: 1918-20.
8. Imperiale TF, Ransohoff DF, Itzkowitz SH, Turnbull BA, Ross ME. Fecal DNA versus fecal occult blood for colorectal-cancer screening in an average-risk population. N Engl J Med 2004; 351: 2704-14.
9. Ahlquist DA, Sargent DJ, Loprinzi CL et al. Stool DNA and occult blood testing for screen detection of colorectal neoplasia. Ann Intern Med 2008; 149: 441-50. W481.
10. Ahlquist DA, Skoletsky JE, Boynton KA et al. Colorectal cancer screening by detection of altered human DNA in stool: feasibility of a multitarget assay panel. Gastroenterology 2000; 119: 1219-27.
11. Zou H, Taylor WR, Harrington JJ et al. High detection rates of colorectal neoplasia by stool DNA testing with a novel digital melt curve assay. Gastroenterology 2009; 136: 459-70.
12. Klaassen CH, Jeunink MA, Prinsen CF et al. Quantification of human DNA in feces as a diagnostic test for the presence of colorectal cancer. Clin Chem 2003; 49: 1185-7.
13. Diehl F, Schmidt K, Durkee KH et al. Analysis of mutations in DNA isolated from plasma and stool of colorectal cancer patients. Gastroenterology 2008; 135: 489-98.
14. Ahlquist DA. Molecular detection of colorectal neoplasia. Gastroenterology 2010; 138: 2127-39.
15. Lichtenstein P, Holm NV, Verkasalo PK et al. Environmental and heritable factors in the causation of cancer--analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med 2000; 343: 78-85.
16. Aaltonen L, Johns L, Jarvinen H, Mecklin JP, Houlston R. Explaining the familial colorectal cancer risk associated with mismatch repair (MMR)-deficient and MMR-stable tumors. Clin Cancer Res 2007; 13: 356-61.
17. Dunlop MG. Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polypolis, juvenile polyposis, and Peutz-Jeghers syndrome. Gut 2002; 51(Suppl. 5): V21-7.
18. Al-Tassan N, Chmiel NH, Maynard J et al. Inherited variants of MYH associated with somatic G:C->T:A mutations in colorectal tumors. Nat Genet 2002; 30: 227-32.
19. Jones S, Emmerson P, Maynard J et al. Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C->T:A mutations. Hum Mol Genet 2002; 11: 2961-7.
20. Sieber OM, Lipton L, Crabtree M et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003; 348: 791-9.
21. Peyssonnaux C, Eychene A. The Raf/MEK/ERK pathway: new concepts of activation. Biol Cell 2001; 93: 53-62.
22. Davies H, Bignell GR, Cox C et al. Mutations of the BRAF gene in human cancer. Nature 2002; 417: 949-54.
23. Deng G, Bell I, Crawley S et al. BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer. Clin Cancer Res 2004; 10(1 Pt 1): 191-5.
24. Nagasaka T, Sasamoto H, Notohara K et al. Colorectal cancer with mutation in BRAF, KRAS, and wild-type with respect to both oncogenes showing different patterns of DNA methylation. J Clin Oncol 2004; 22: 4584-94.
25. Houlston RS, Webb E, Broderick P et al. Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet 2008; 40: 1426-35.
26. Zanke BW, Greenwood CM, Rangrej J et al. Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. Nat Genet 2007; 39: 989-94.
27. Tomlinson IP, Webb E, Carvajal-Carmona L et al. A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet 2008; 40: 623-30.
28. Jaeger E, Webb E, Howarth K et al. Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nat Genet 2008; 40: 26-8.
29. Hewitson P, Glasziou P, Watson E, Towler B, Irwig L. Cochrane systematic review of colorectal cancer screening using the fecal occult blood test (hemoccult): an update. Am J Gastroenterol 2008; 103: 1541-9.
30. Hardcastle JD, Chamberlain JO, Robinson MH et al. Randomised controlled trial of faecal-occult-blood screening for colorectal cancer. Lancet 1996; 348: 1472-7.
31. Kronborg O, Fenger C, Olsen J, Jorgensen OD, Sondergaard O. Randomised study of screening for colorectal cancer with faecal-occult-blood test. Lancet 1996; 348: 1467-71.
32. Mandel JS, Bond JH, Church TR et al. Reducing mortality from colorectal cancer by screening for fecal occult blood. Minnesota Colon Cancer Control Study. N Engl J Med 1993; 328: 1365-71.
33. Kewenter J, Brevinge H, Engaras B, Haglind E, Ahren C. Results of screening, rescreening, and follow-up in a prospective randomized study for detection of colorectal cancer by fecal occult blood testing. Results for 68, 308 subjects. Scand J Gastroenterol 1994; 29: 468-73.
34. Burch JA, Soares-Weiser K, St John DJ et al. Diagnostic accuracy of faecal occult blood tests used in screening for colorectal cancer: a systematic review. J Med Screen 2007; 14: 132-7.
35. Rockey DC, Auslander A, Greenberg PD. Detection of upper gastrointestinal blood with fecal occult blood tests. Am J Gastroenterol 1999; 94: 344-50.
36. Hol L, Van Leerdam ME, Van Ballegooijen M et al. Screening For Colorectal Cancer; Randomised Trial Comparing Guaiac-Based And Immunochemical Faecal Occult Blood Testing And Flexible Sigmoidoscopy. Gut 2010; 59: 62-8.
37. Graser A, Stieber P, Nagel D et al. Comparison of CT colonography, colonoscopy, sigmoidoscopy and faecal occult blood tests for the detection of advanced adenoma in an average risk population. Gut 2009; 58: 241-8.
38. Allison JE, Tekawa IS, Ransom LJ, Adrain AL. A comparison of fecal occult-blood tests for colorectal-cancer screening. N Engl J Med 1996; 334: 155-9.
39. Greenberg PD, Bertario L, Gnauck R et al. A prospective multicenter evaluation of new fecal occult blood tests in patients undergoing colonoscopy. Am J Gastroenterol 2000; 95: 1331-8.
40. Grutzmann R, Molnar B, Pilarsky C et al. Sensitive detection of colorectal cancer in peripheral blood by septin 9 DNA methylation assay. PLoS ONE 2008; 3: e3759.
41. Tagore KS, Lawson MJ, Yucaitis JA, Gage R, Orr T, Shuber AP, Ross ME. Sensitivity and specificity of a stool DNA multitarget assay panel for the detection of advanced colorectal neoplasia. Clin Colorectal Cancer 2003; 3: 47-53.
42. Syngal S, Stoffel E, Chung D et al. Detection of stool DNA mutations before and after treatment of colorectal neoplasia. Cancer 2006; 106: 277-83.
43. Ouyang DL, Chen JJ, Getzenberg RH, Schoen RE. Noninvasive testing for colorectal cancer: a review. Am J Gastroenterol 2005; 100: 1393-403.
44. deVos T, Tetzner R, Model F et al. Circulating methylated SEPT9 DNA in plasma is a biomarker for colorectal cancer. Clin Chem 2009; 55: 1337-46.
45. Leung WK, To KF, Man EP et al. Quantitative detection of promoter hypermethylation in multiple genes in the serum of patients with colorectal cancer. Am J Gastroenterol 2005; 100: 2274-9.
46. Huang ZH, Li LH, Yang F, Wang JF. Detection of aberrant methylation in fecal DNA as a molecular screening tool for colorectal cancer and precancerous lesions. World J Gastroenterol 2007; 13: 950-4.
47. Melotte V, Lentjes MH, van den Bosch SM et al. N-Myc downstream-regulated gene 4 (NDRG4): a candidate tumor suppressor gene and potential biomarker for colorectal cancer. J Natl Cancer Inst 2009; 101: 916-27.
48. Hardt PD, Ngoumou BK, Rupp J, Schnell-Kretschmer H, Kloer HU. Tumor M2-pyruvate kinase: a promising tumor marker in the diagnosis of gastro-intestinal cancer. Anticancer Res 2000; 20: 4965-8.
49. Schneider J, Schulze G. Comparison of tumor M2-pyruvate kinase (tumor M2-PK), carcinoembryonic antigen (CEA), carbohydrate antigens CA 19-9 and CA 72-4 in the diagnosis of gastrointestinal cancer. Anticancer Res 2003; 23: 5089-93.
50. Schulze G. The tumor marker tumor M2-PK: an application in the diagnosis of gastrointestinal cancer. Anticancer Res 2000; 20: 4961-4.
51. Ewald N, Toepler M, Akinci A, Kloer HU, Bretzel RG, Hardt PD. Pyruvate kinase M2 (tumor M2-PK) as a screening tool for colorectal cancer (CRC). A review of current published data. Z Gastroenterol 2005; 43: 1313-7.
52. Tonus C, Neupert G, Sellinger M. Colorectal cancer screening by non-invasive metabolic biomarker fecal tumor M2-PK. World J Gastroenterol 2006; 12: 7007-11.
53. Haug U, Rothenbacher D, Wente MN, Seiler CM, Stegmaier C, Brenner H. Tumour M2-PK as a stool marker for colorectal cancer: comparative analysis in a large sample of unselected older adults vs colorectal cancer patients. Br J Cancer 2007; 96: 1329-34.
54. Haug U, Hundt S, Brenner H. Sensitivity and specificity of faecal tumour M2 pyruvate kinase for detection of colorectal adenomas in a large screening study. Br J Cancer 2008; 99: 133-5.
55. Wang JY, Tang R, Chiang JM. Value of carcinoembryonic antigen in the management of colorectal cancer. Dis Colon Rectum 1994; 37: 272-7.
56. Irvine T, Scott M, Clark CI. A small rise in CEA is sensitive for recurrence after surgery for colorectal cancer. Colorectal Dis 2007; 9: 527-31.
57. Korner H, Soreide K, Stokkeland PJ, Soreide JA. Systematic follow-up after curative surgery for colorectal cancer in Norway: a population-based audit of effectiveness, costs, and compliance. J Gastrointest Surg 2005; 9: 320-8.
58. Minton JP, Hoehn JL, Gerber DM et al. Results of a 400-patient carcinoembryonic antigen second-look colorectal cancer study. Cancer 1985; 55: 1284-90.
59. Moertel CG, Fleming TR, Macdonald JS, Haller DG, Laurie JA, Tangen C. An evaluation of the carcinoembryonic antigen (CEA) test for monitoring patients with resected colon cancer. JAMA 1993; 270: 943-7.
60. Tan E, Gouvas N, Nicholls RJ, Ziprin P, Xynos E, Tekkis PP. Diagnostic precision of carcinoembryonic antigen in the detection of recurrence of colorectal cancer. Surg Oncol 2009; 18: 15-24.
61. Wang JY, Wu CH, Lu CY et al. Molecular detection of circulating tumor cells in the peripheral blood of patients with colorectal cancer using RT-PCR: significance of the prediction of postoperative metastasis. World J Surg 2006; 30: 1007-13.
62. Diehl F, Schmidt K, Choti MA et al. Circulating mutant DNA to assess tumor dynamics. Nat Med 2008; 14: 985-90.
63. Fernandes LC, Kim SB, Saad SS, Matos D. Value of carcinoembryonic antigen and cytokeratins for the detection of recurrent disease following curative resection of colorectal cancer. World J Gastroenterol 2006; 12: 3891-4.
64. Meinsma R, Fernandez-Salguero P, Van Kuilenburg AB, Van Gennip AH, Gonzalez FJ. Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea. DNA Cell Biol 1995; 14: 1-6.
65. Johnson MR, Hageboutros A, Wang K, High L, Smith JB, Diasio RB. Life-threatening toxicity in a dihydropyrimidine dehydrogenase-deficient patient after treatment with topical 5-fluorouracil. Clin Cancer Res 1999; 5: 2006-11.
66. Lyss AP, Lilenbaum RC, Harris BE, Diasio RB. Severe 5-fluorouracil toxicity in a patient with decreased dihydropyrimidine dehydrogenase activity. Cancer Invest 1993; 11: 239-40.
67. Fleming RA, Milano G, Thyss A et al. Correlation between dihydropyrimidine dehydrogenase activity in peripheral mononuclear cells and systemic clearance of fluorouracil in cancer patients. Cancer Res 1992; 52: 2899-902.
68. Innocenti F, Ratain MJ. Correspondence re: Raida, M. et al., prevalence of a common point mutation in the dihydropyrimidine dehydrogenase (DPD) gene within the 5'-splice donor site of intron 14 in patients with severe 5-fluorouracil (5-FU)-related toxicity compared with controls. Clin Cancer Res 2002; 8: 1314. author reply 1315-1316.
69. Ezzeldin HH, Lee AM, Mattison LK, Diasio RB. Methylation of the DPYD promoter: an alternative mechanism for dihydropyrimidine dehydrogenase deficiency in cancer patients. Clin Cancer Res 2005; 11(24 Pt 1): 8699-705.
70. Yen JL, McLeod HL. Should DPD analysis be required prior to prescribing fluoropyrimidines? Eur J Cancer 2007; 43: 1011-6.
71. Ychou M, Douillard JY, Rougier P et al. Randomized comparison of prophylactic antidiarrheal treatment versus no prophylactic antidiarrheal treatment in patients receiving CPT-11 (irinotecan) for advanced 5-FU-resistant colorectal cancer: an open-label multicenter phase II study. Am J Clin Oncol 2000; 23: 143-8.
72. Saltz L. Irinotecan-based combinations for the adjuvant treatment of stage III colon cancer. Oncology (Williston Park) 2000; 14(12 Suppl. 14): 47-50.
73. Gupta E, Lestingi TM, Mick R, Ramirez J, Vokes EE, Ratain MJ. Metabolic fate of irinotecan in humans: correlation of glucuronidation with diarrhea. Cancer Res 1994; 54: 3723-5.
74. Ando Y, Saka H, Ando M et al. Polymorphisms of UDP-glucuronosyltransferase gene and irinotecan toxicity: a pharmacogenetic analysis. Cancer Res 2000; 60: 6921-6.
75. Innocenti F, Undevia SD, Ramirez J et al. A phase I trial of pharmacologic modulation of irinotecan with cyclosporine and phenobarbital. Clin Pharmacol Ther 2004; 76: 490-502.
76. Marcuello E, Altes A, Menoyo A, Del Rio E, Gomez-Pardo M, Baiget M. UGT1A1 gene variations and irinotecan treatment in patients with metastatic colorectal cancer. Br J Cancer 2004; 91: 678-82.
77. Rouits E, Boisdron-Celle M, Dumont A, Guerin O, Morel A, Gamelin E. Relevance of different UGT1A1 polymorphisms in irinotecan-induced toxicity: a molecular and clinical study of 75 patients. Clin Cancer Res 2004; 10: 5151-9.
78. Iyer L, Das S, Janisch L et al. UGT1A1*28 polymorphism as a determinant of irinotecan disposition and toxicity. Pharmacogenomics J 2002; 2: 43-7.
79. McLeod HL, Watters JW. Irinotecan pharmacogenetics: is it time to intervene? J Clin Oncol 2004; 22: 1356-9.
80. Ruzzo A, Graziano F, Loupakis F et al. Pharmacogenetic profiling in patients with advanced colorectal cancer treated with first-line FOLFIRI chemotherapy. Pharmacogenomics J 2008; 8: 278-88.
81. Cote JF, Kirzin S, Kramar A et al. UGT1A1 polymorphism can predict hematologic toxicity in patients treated with irinotecan. Clin Cancer Res 2007; 13: 3269-75.
82. Toffoli G, Cecchin E, Corona G et al. The role of UGT1A1*28 polymorphism in the pharmacodynamics and pharmacokinetics of irinotecan in patients with metastatic colorectal cancer. J Clin Oncol 2006; 24: 3061-8.
83. Palomaki GE, Bradley LA, Douglas MP, Kolor K, Dotson WD. Can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan? An evidence-based review. Genet Med 2009; 11: 21-34.
84. Siena S, Sartore-Bianchi A, Di Nicolantonio F, Balfour J, Bardelli A. Biomarkers predicting clinical outcome of epidermal growth factor receptor-targeted therapy in metastatic colorectal cancer. J Natl Cancer Inst 2009; 101: 1308-24.
85. Van Cutsem E, Peeters M, Siena S et al. Open-label phase III trial of panitumumab plus best supportive care compared with best supportive care alone in patients with chemotherapy-refractory metastatic colorectal cancer. J Clin Oncol 2007; 25: 1658-64.
86. Bokemeyer C, Bondarenko I, Makhson A et al. Fluorouracil, leucovorin, and oxaliplatin with and without cetuximab in the first-line treatment of metastatic colorectal cancer. J Clin Oncol 2009; 27: 663-71.
87. Van Cutsem E, Kohne CH, Hitre E et al. Cetuximab and chemotherapy as initial treatment for metastatic colorectal cancer. N Engl J Med 2009; 360: 1408-17.
88. Tol J, Nagtegaal ID, Punt CJ. BRAF mutation in metastatic colorectal cancer. N Engl J Med 2009; 361: 98-9.
89. Des Guetz G, Schischmanoff O, Nicolas P, Perret GY, Morere JF, Uzzan B. Does microsatellite instability predict the efficacy of adjuvant chemotherapy in colorectal cancer? A systematic review with meta-analysis Eur J Cancer 2009; 45: 1890-6.
90. Popat S, Hubner R, Houlston RS. Systematic review of microsatellite instability and colorectal cancer prognosis. J Clin Oncol 2005; 23: 609-18.
91. Jover R, Zapater P, Castells A et al. The efficacy of adjuvant chemotherapy with 5-fluorouracil in colorectal cancer depends on the mismatch repair status. Eur J Cancer 2009; 45: 365-73.
92. Nash GM, Gimbel M, Cohen AM et al. KRAS mutation and microsatellite instability: two genetic markers of early tumor development that influence the prognosis of colorectal cancer. Ann Surg Oncol 2010; 17: 416-24.
93. Andreyev HJ, Norman AR, Cunningham D, Oates JR, Clarke PA. Kirsten ras mutations in patients with colorectal cancer: the multicenter "RASCAL" study. J Natl Cancer Inst 1998; 90: 675-84.
94. Andreyev HJ, Norman AR, Cunningham D et al. Kirsten ras mutations in patients with colorectal cancer: the 'RASCAL II' study. Br J Cancer 2001; 85: 692-6.
95. Richman SDSM, Chambers P, Elliott F et al. KRAS and BRAF mutations in advanced colorectal cancer are associated with poor prognosis but do not preclude benefit from oxaliplatin or irinotecan: results from the MRC FOCUS trial. Journal of Clincal Oncology 2009; 27: 5931-7.
96. Nash GM, Gimbel M, Shia J et al. KRAS Mutation Correlates With Accelerated Metastatic Progression in Patients With Colorectal Liver Metastases. Ann Surg Oncol 2010; 17: 572-8.
97. Souglakos J, Philips J, Wang R et al. Prognostic and predictive value of common mutations for treatment response and survival in patients with metastatic colorectal cancer. Br J Cancer 2009; 101: 465-72.
98. Zlobec I, Bihl MP, Schwarb H, Terracciano L, Lugli A. Clinico-pathological and protein characterization of BRAF and K-RAS mutated colorectal cancer and implications for prognosis. Int J Cancer 2010; 127: 367-60.
99. Nosho K, Kure S, Irahara N et al. A prospective cohort study shows unique epigenetic, genetic, and prognostic features of synchronous colorectal cancers. Gastroenterology 2009; 137: 1609-20.
100. Sanchez JA, Krumroy L, Plummer S et al. Genetic and epigenetic classifications define clinical phenotypes and determine patient outcomes in colorectal cancer. Br J Surg 2009; 96: 1196-204.