Predictive and prognostic factors in colorectal cancer: A personalized approach

Cancers

Volumn 3, Issue 2, 2011, Pages 1622-1638

  Kulendran, Myutan ^a   Stebbing, John F ^a   Marks, Christopher G ^a   Rockall, Timothy A ^a  

^a ROYAL SURREY COUNTY HOSPITAL   (United Kingdom)

Author keywords

18qLOH; APC; BRAF; CIMP; CIN; Circulating tumor cells; Colorectal cancer; FOBT; KRAS; MGMT; MMR; MSI; Personalized medicine; Predictive and prognostic factors; TGF ; TP53; Vimentin

Indexed keywords

AZACITIDINE; B RAF KINASE; CETUXIMAB; DNA; FLUOROURACIL; FOLINIC ACID; IRINOTECAN; K RAS PROTEIN; METHYLATED DNA PROTEIN CYSTEINE METHYLTRANSFERASE; OXALIPLATIN; SORAFENIB; VEMURAFENIB; VIMENTIN;

BRAF GENE; CARCINOGENESIS; CHROMOSOME 18Q; CIMP GENE; CLINICAL TRIAL (TOPIC); COLORECTAL CANCER; COLORECTAL SURGERY; CPG ISLAND; DNA DETERMINATION; DRUG POTENTIATION; DRUG RESEARCH; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY LOSS; HUMAN; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; OCCULT BLOOD TEST; ONCOGENE; ONCOGENE K RAS; OVERALL SURVIVAL; PERSONALIZED MEDICINE; PREDICTION; PROGNOSIS; PROGRESSION FREE SURVIVAL; REVIEW; TGF BETA GENE; TP53 GENE; TUMOR SUPPRESSOR GENE;

EID: 79959697570     PISSN: None     EISSN: 20726694     Source Type: Journal    
DOI: 10.3390/cancers3021622     Document Type: Review

References (111)

1. Van't Veer, L.; Dai, H.; van de Vijver, M.J.; He, Y.D.; Hart, A.A.; Mao, M.; Peterse, H.L.; van der Kooy, K.; Marton, M.J.; Witteveen, A.T.; et al. Gene expression profiling predicts clinical outcome of breast cancer. Nature 2002, 415, 530-536.
2. Allegra, C.J.; Jessup, J.M.; Somerfield, M.R.; Hamilton, S.R.; Hammond, E.H.; Hayes, D.F.; McAllister, P.K.; Morton, R.F.; Schilsky, R.L. American Society of Clinical Oncology provisional clinical opinion: Testing for KRAS gene mutations in patients with metastatic colorectal carcinoma to predict response to anti-epidermal growth factor receptor monoclonal antibody therapy. J. Clin. Oncol. 2009, 27, 2091-2096.
3. Karapetis, C.S.; Khambata-Ford, S.; Jonker, D.J.; O'Callaghan, C.J.; Tu, D.; Tebbutt, N.C.; Simes, R.J.; Chalchal, H.; Shapiro, J.D.; Robitaille, S.; et al. K-ras mutations and benefit from cetuximab in advanced colorectal cancer. N. Eng. J. Med. 2008, 359, 1757-1765.
4. Siena, S.; Sartore-Bianchi, A.; Di Nicolantonio, F.; Balfour, J.; Bardelli, A. Biomarkers predicting clinical outcomeof epidermal growth factor receptor-targeted therapy in metastatic colorectal cancer. J. Nat. Cancer Inst. 2009,101, 1308-1324.
5. National Comprehensive Cancer Network (NCCN) Clinical Practice Guidelines in Oncology: Colon CancerV.2.2010, 2010, http://www.nccn.org/professionals/physician_gls/PDF/colon.pdf/.
6. Compton, C.C.; Fielding, L.P.; Burgart, L.J.; Conley, B.; Cooper, H.S.; Hamilton, S.R.; Hammond, M.E.; Henson, D.E.; Hutter, R.V.; Nagle, R.B.; et al. Prognostic factors in colorectal cancer. College of American pathologists consensus statement, 1999. Arch. Pathol. Lab. Med. 2000, 124, 979-994.
7. Steinberg, S.M.; Barkin, J.S.; Kaplan, R.S.; Stablein, D.M. Prognostic indicators of colon tumours. The Gastrointestinal Tumour Study Group experience. Cancer 1986, 57, 1866-1870.
8. Vogelstein, B.; Fearson, E.R.; Hamilton, S.R.; Kern, S.E.; Preisinger, A.C.; Leppert, M.; Nakamura, Y.; White, R.; Smits, A.M.; Bos, J.L. Genetic alterations during colorectal-tumor development. N. Engl. J. Med. 1988, 319, 525-532.
9. Leggett, B.; Whitehall, V. Role of the serrated pathway in colorectal pathogenesis. Gastroenterology 2010, 138, 2088-2100.
10. Grady, W.M.; Carethers, J.M. Genomic and epigenetic instability in colorectal cancer pathogenesis. Gastroenterology 2008, 135, 1079-1099.
11. Kinzler, K.W.; Vogelstein, B. Colorectal tumors. In The Genetic Basis of Human Cancer; Vogelstein, B., Kinzler, K.W., Eds.; McGraw-Hill: New York, NY, USA, 1998; pp. 565-587.
12. Kane, M.F.; Loda, M.; Gaida, G.M.; Lipman, J.; Mishra, R.; Goldman, H.; Jessup, J.M.; Kolodner, R. Methylation of the hMLH1 promoter correlates with lack of expression og hMLH1 in sporadic colon tumours and mismatch repair-defective human tumor cell lines. Cancer Res. 1997, 57, 808-811.
13. Carethers, J.M.; Hawn, M.T.; Greenson, J.K.; Hitchcock, C.L.; Boland, C.R. Prognostic significance of allelic lost at chromosome 18q21 for stage II colorectal cancer. Gastroenterology 1998, 114, 1188-1195.
14. Alhopuro, P.; Alazzouzi, H.; Sammalkorpi, H.; Dávalos, V.; Salovaara, R.; Hemminki, A.; Järvinen, H.; Mecklin, J.P.; Schwartz, S., Jr.; Aaltonen, L.A.; Arango, D. SMAD4 levels and response 5-fluoouracil in colorectal cancer. Clin. Cancer Res. 2005, 11, 6311-6316.
15. Rowan, A.; Halford, S.; Gaasenbeek, M.; Kemp, Z.; Sieber, O.; Volikos, E.; Douglas, E.; Fiegler, H.; Carter, N.; Talbot, I.; Silver, A.; et al. Refining molecular analysis in the pathway of colorectal carcinogenesis. Clin. Gastroenterol. Hepatol. 2005, 3, 1115-1123.
16. Olschwang, S.; Hamelin, R.; Laurent-Puig, P.; Thuille, B.; De Rycke, Y.; Li, Y.J.; Muzeau, F.; Girodet, J.; Salmon, R.J.; Thomas, G. Alternative genetic pathways of colorectal carcinogenesis. Proc. Natl. Acad. Sci. USA 1997, 94, 12122-12127.
17. Alberts, J.; Lewis, R.; Roberts, W. The molecular basis of cancer cell behaviour. In Molecular Biology of the Cell, 5th ed.; Garland Science, Taylor and Francis Group: New York, NY, USA, 2008; pp. 1251-1252.
18. Boulay, J.L.; Mild, G.; Lowy, A.; Reuter, J.; Lagrange, M.; Terracciano, L.; Laffer, U.; Herrmann, R.; Rochlitz, C. SMAD4 is a predictive marker for 5-fluoraucil-based chemotherapy in patients with colorectal cancer. Br. J. Cancer 2002, 87, 630-634.
19. Iacopetta, B. TP53 mutation in colorectal cancer. Hum. Mutat. 2003, 21, 271-276.
20. Borresen-Dale, A.; Lothe, R.A.; Meling, G.I.; Hainaut, P.; Rognum, T.O.; Skovlund, E. TP53 and long-term prognosis in colorectal cancer: Mutations in the L3 Zinc-binding predict poor survival. Clin. Cancer Res. 1998, 4, 203-210.
21. Iniesta, P.; Vega, F.J.; Caldes, T.; Massa, M.; de Juan, C.; Cerdán, F.J.; Sánchez, A.; López, J.A.; Torres, A.J.; Balibrea, J.L.; et al. p53 exon 7 mutations as a predictor of poor prognosis in patients with colorectal cancer. Cancer Lett. 1998, 130, 153-160.
22. Samowitz, W.S.; Curtin, K.; Ma, K.N.; Edwards, S.; Schaffer, D.; Leppert, M.F.; Slattery, M.L. Prognostic significance of p53 mutations in colon cancer at the population level. Int. J. Cancer 2002, 99, 597-602.
23. Jernval, P.; Makinen, M.; Kerttunen, T.; Mäkelä, J.; Vihko, P. Conserved region mutations of the p53gene are concentrated in distal colorectal cancers. Int. J. Cancer 1997, 74, 97-101.
24. Russo, A.; Migliavacca, M.; Zanna, I.; Valerio, M.R.; Latteri, M.A.; Grassi, N.; Pantuso, G.; Salerno, S.; Dardanoni, G.; Albanese, I.; et al. p53 mutations in L3-loop zinc binding domain, DNA-ploidy and S phase fraction are independent prognostic indicators in colorectal cancer: A prospective study with a 5 year follow-up. Cancer Epidem. Biomarker. Prev. 2002, 11, 1322-1331.
25. Hamelin, R.; Laurent-Puig, P.; Olschwang, S.; Jego, N.; Asselain, B.; Remvikos, Y.; Girodet, J.; Salmon, R.J.; Thomas, G. Association of p53 mutations with short survival in colorectal cancer. Gastroenterology 1994, 106, 42-48.
26. Goh, H.S.; Elnatan, J.; Low, C.H.; Smith, D.R. p53 point mutation and survival in colorectal cancer patients: Effect of disease dissemination and tumour location. Int. J. Oncol. 1999, 15, 491-498.
27. Russo, A.; Bazan, V.; Iacopetta, B.; Kerr, D.; Soussi, T.; Gebbia, N. The TP53 colorectal cancer international collaborative study on the prognostic and predicitve significance of p53 mutation: Influence of tumour site, type of mutation and adjuvant treatment. J. Clin. Oncol. 2005, 23, 7518-7528.
28. Shibata, D.; Pienado, M.A.; Ionov, Y.; Malkhosyan, S.; Perucho, M. Genomic instability in repeated sequences is an early somatic event in colorectal tumorigenesis that persists after transformation. Nat. Genet. 1994, 6, 273-281.
29. Aaltonen, L.A.; Peltomaki, P.; Mecklin, J.P.; Järvinen, H.; Jass, J.R.; Green, J.S.; Lynch, H.T.; Watson, P.; Tallqvist, G.; Juhola, M. Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients. Cancer Res. 1994, 54, 1645-1648.
30. Grady, W.M. Genomic instability and colon cancer. Cancer Metast. Rev. 2004, 23, 11-27.
31. Walther, A.; Houlston, R.; Tomlinson, I. Association between chromosomal instability and prognosis in colorectal cancer: A meta-analysis. Gut 2008, 57, 941-950.
32. Markowitz, S.; Wang, J.; Myeroff, L.; Parsons, R.; Sun, L.; Lutterbaugh, J.; Fan, R.S.; Zborowska, E.; Kinzler, K.W.; Vogelstein, B. Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. Science 1995, 268, 1336-1338.
33. Duval, A.; Hamelin, R. Mutations at coding repeat sequences in mismatch repair-deficient human cancers: toward a new concept of target genes for instability. Cancer Res. 2002, 62, 2447-2454.
34. Thibodeau, S.N.; Bren, G.; Schaid, D. Microsatellite instability in cancer of the proximal colon. Science 1993, 260, 816-819.
35. Hampel, H.; Frankel, W.L.; Martin, E.; Arnold, M.; Khanduja, K.; Kuebler, P.; Nakagawa, H.; Sotamaa, K.; Prior, T.W.; Westman, J.; et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N. Engl. J. Med. 2005, 352, 1851-1860.
36. Young, J.; Simms, L.A.; Biden, K.G.; Wynter, C.; Whitehall, V.; Karamatic, R.; George, J.; Goldblatt, J.; Walpole, I.; Robin, S.A.; et al. Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings: Parallel pathways of tumorigenesis. Am. J. Pathol. 2001, 159, 2107-2116.
37. Wang, L.; Cunningham, J.M.; Winters, J.L.; Guenther, J.C.; French, A.J.; Boardman, L.A.; Burgart, L.J.; McDonnell, S.K.; Schaid, D.J.; Thibodeau, S.N. BRAF mutations in colon cancer are not likely attributable to defective DNA mismatch repair. Cancer Res. 2003, 63, 5209-5212.
38. George, P.; Kim, L.H.; Colangelo, H.; Samuel, W.; Soonmyung, P.; Ilan, R.K.; Norman, W.; Carmen, J.A. Prognostic and predictive roles of high-degree microsatellite instability in colon cancer: A national cancer institute-national surgical adjuvant breast and bowel project collaborative study. J. Clin. Oncol. 2007, 25, 767-772.
39. Carethers, J.M.; Chauhan, D.P.; Fink, D.; Nebel, S.; Bresalier, R.S.; Howell, S.B.; Boland, C.R. Mismatch repair proficiency and in vitro response to 5-fluorouracil. Gastroenterology 1999, 117, 123-131.
40. Arnold, C.N.; Goel, A.; Boland, C.R. Role of hMLH1 promoter hypermethylation in drug resistance to 5-fluorouracil in colorectal cancer cell lines. Int. J. Cancer 2003, 106, 66-73.
41. Pawlik, T.M.; Raut, C.P.; Rodriguez-Bigas, M.A. Colorectal carcinogenesis: MSI-H versus MSI-L. Disease Marker. 2004, 20, 199-206.
42. Ribic, C.M.; Sargent, D.J.; Moore, M.J.; Thibodeau, S.N.; French, A.J.; Goldberg, R.M.; Hamilton, S.R.; Laurent-Puig, P.; Gryfe, R.; Shepherd, L.E.; et al. Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N. Engl. J. Med. 2003, 349, 247-257.
43. Jo, W.; Carethers, J.M. Chemotherapeutic implications in microsatellite unstable colorectal cancer. Cancer Biomark. 2006, 2, 51-60.
44. International multicentre pooled analysis of B2 colon cancer trials (IMPACT B2) investigators. Efficacy of adjuvant fluorouracil and folinic acid in B2 colon cancer. J. Clin. Oncol. 1999, 17, 1356-1363.
45. Fallik, D.; Borrini, F.; Boige, V.; Viguier, J.; Jacob, S.; Miquel, C.; Sabourin, J.C.; Ducreux, M.; Praz, F. Microsatellite instability is a predictive factor of the tumor response to irinotecan in patients with advanced colorectal cancer. Cancer Res. 2003, 63, 5738-5744.
46. Bertagnolli, M.M.; Niedzwiecki, D.; Compton, C.C.; Hahn, H.P.; Hall, M.; Damas, B.; Jewell, S.D.; Mayer, R.J.; Goldberg, R.M.; Saltz, L.B.; et al. Microsatellite instability predicts improved response to adjuvant therapy with irinotecan, fluorouracil, and leucovorin in stage III colon cancer: Cancer and Leukemia Group B Protocol 89803. J. Clin. Oncol. 2009, 27, 1814-1821.
47. Ahrendt, S.A.; Decker, P.A.; Doffek, K.; Wang, B.; Xu, L.; Demeure, M.J.; Jen, J.; Sidransky, D. Microsatellite instability at selected tetranucleotide repeats is associated with p53 mutations in non-small cell lung cancer. Cancer Res. 2000, 60, 2488-2491.
48. Richman, S.D.; Seymour, M.T.; Chambers, M.T.; Elliott, F.; Daly, C.L.; Meade, A.M.; Taylor, G.; Barrett, J.H.; Quirke, P. 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. J. Clin. Oncol. 2009, 27, 5931-5937.
49. 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, 5, 692-696.
50. Artale, S.; Satore-Bianchi, A.; Veronese, S.M.; Gambi, V.; Sarnataro, C.S.; Gambacorta, M.; Lauricella, C.; Siena, S. Mutations of KRAS and BRAF in primary and matched metastatic sites of colorectal cancer. J. Clin. Oncol. 2008, 26, 4217-4219.
51. Zauber, P.; Sabbath-Solitare, M.; Marotta, S.P.; Bishop, D.T. Molecular changes in the Ki-RAS and APC genes in primary colorectal carcinoma and synchronous metastases compared with the findings in accompanying adenomas. Mol. Pathol. 2003, 56, 137-140.
52. Van Cutsem, E.; Kohne, C.H.; Hitre, E.; Zaluski, J.; Chang Chien, C.R.; Makhson, A.; D'Haens, G.; Pintér, T.; Lim, R.; Bodoky, G.; et al. Cetuximab and chemotherapy as initial treatment for metastatic colorectal cancer. N. Engl. J. Med. 2009, 360, 1408-1417.
53. Tabernero, J.; Cervantes, A.; Ciardiello, F. Correlation of Efficacy to KRAS Status (wt versus mut) in Patients (pts) with Metastatic Colorectal Cancer (mCRC), Treated with Weekly (q1w) and q2w Schedules of Cetuximab Combined with FOLFIRI. Proceedings of ASCO Gastrointestinal Cancers Symposium, Orlando, Florida, January 2008.
54. Bokemeyer, C.; Bondarenko, I.; Makhson, A.; Hartmann, J.T.; Aparicio, J.; de Braud, F.; Donea, S.; Ludwig, H.; Schuch, G.; Stroh, C.; et al. Fluorouracil, leucovorin and oxaliplatin with and without cetuximab in the first-line treatment of metastatic colorectal cancer. J. Clin. Oncol. 2009, 27, 663-671.
55. Bokemeyer, C.; Bondarenko, I.; Makhson, A. Cetuximab Plus 5-FU/FA/Oxaliplatin (FOLFOX-4) versus FOLFOX-4 in the First-Line Treatment of Metastatic Colorectal Cancer (mCRC): OPUS, A Randomized Phase II Study. Proceedings of the American Society of Clinical Oncology Conference, Chicago, IL, USA, 2007.
56. Europeans Medicines Agency. Committee for Medicinal Products for Human Use May 2008 Plenary Monthly report.2008. http://www.emea.europe.eu/pdfs/human/press/pr.27923508en.pdf/.
57. Danielson, S.A.; Lind, G.E.; Bjornslett, M.; Meling, G.I.; Rognum, T.O.; Heim, S.; Lothe, R.A. Novel mutations of the suppressor gene PTEN in colorectal carcinoma stratified by microsatellite instability- and TP53 mutation status. Hum. Mutat. 2008, 29, E252-E262.
58. Rajagopalan, H.; Bardelli, A.; Lengauer, C.; Kinzler, K.W.; Vogelstein, B.; Velculescu, V.E. Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. Nature 2002, 418, 934.
59. Di Nicolantonio, F.; Martini, M.; Molinari, F.; Sartore-Bianchi, A.; Arena, S.; Saletti, P.; De Dosso, S.; Mazzucchelli, L.; Frattini, M.; Siena, S.; et al. Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. J. Clin. Oncol. 2008, 26, 5705-5712.
60. Domingo, E.; Laiho, P.; Ollikainen, M.; Pinto, M.; Wang, L.; French, A.J.; Westra, J.; Frebourg, T.; Espín, E.; Armengol, M.; et al. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J. Med. Genet. 2004, 41, 664-668.
61. Weisenberger, D.J.; Siegmund, K.D.; Campan, M.; Young, J.; Long, T.I.; Faasse, M.A.; Kang, G.H.; Widschwendter, M.; Weener, D.; Buchanan, D.; et al. CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with the BRAF mutation in colorectal cancer. Nat. Genet 2006. 38, 787-793.
62. Bettstetter, M.; Dechant, S.; Ruemmele, P.; Grabowski, M.; Keller, G.; Holinski-Feder, E.; Hartmann, A.; Hofstaedter, F.; Dietmaier, W. Distinction of hereditary nonpolyposis colorectal cancer and sporadic microsatellite-unstable colorectal cancer through quantification of MLH1 methylation by real time PCR. Clin. Res. 2007, 13, 3221-3228.
63. Zhang, L. Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part II. The utility of microsatellite instability testing. J. Mol. Diagn. 2008, 10, 301-307.
64. Kolinsky, K.D.; Su, F.; Bollag, G.; Lee, R.; Packman, K.; Schostack, K.; Heimbrook, D.; Kohles, J.; Higgins, B. Efficacy of PLX4032, A Selective V600EB-Raf Inhibitor, as Monotherapy or in Combination with Capecitabine ± Bevacizumab in a Colorectal Cancer Xenograft Model. Proceedings of the 2009 Gastrointestinal Cancers Symposium, San Francisco, CA, January 15-17, 2009, Abstract 632.
65. Laird, P.W. Cancer epigenetics. Hum. Mol. Genet. 2005, 14, R65-R76.
66. Issa, J.P. CpG island methylator phenotype in cancer. Nat. Rev. Cancer 2004, 4, 988-993.
67. Toyota, M.; Ahuja, N.; Ohe-Toyota, M.; Herman, J.G.; Baylin, S.; Issa, J.P. CpG island methylation in colorectal cancer. Proc. Natl. Acad. Sci. USA 1999, 96, 8681-8686.
68. Matsuzaki, K.; Deng G, Tanaka, H.; Kakar, S.; Miura, S.; Kim, Y.S. The relationship between global methylation level, loss of heterozygosity and microsatellite instability in sporadic colorectal cancer. Clin. Cancer Res. 2005, 11, 8564-8569.
69. Rodriguez, J.; Frigola, J.; Vendrell, E.; Risques, R.A.; Fraga, M.F.; Morales, C.; Moreno, V.; Esteller, M.; Capellà, G.; Ribas, M.; et al. Chromosomal instability correlates with genome wide DNA demethylation in human primary colorectal cancer. Cancer Res. 2006, 66, 8462-9468.
70. Georgiades, I.B.; Curtis, L.J.; Morris, R.M.; Bord, C.C.; Wyllie, A.H. Heterogeneity studies identify a subset of sporadic colorectal cancers without evidence for chromosomal or microsatellite instability. Oncogene 1999, 18, 7933-7940.
71. Barault, L.; Charon-Barra, C.; Jooste, V.; de la Vega, M.F.; Martin, L.; Roignot, P.; Rat, P; Bouvier, A.M.; Laurent-Puig, P.; Faivre, J.; et al. Hypermethylator phenotype in sporadic colon cancer: study on a population-based series of 582 cases. Cancer Res. 2008, 68, 8541-8546.
72. Jass, J.R. Serrated adenoma of the colorectum and the DNA methylator phenotype. Nat. Clin. Pract. Oncol. 2005, 2, 398-405.
73. Lumbomierski, N.; Plotz, G.; Wormek, M.; Engels, K.; Kriener, S.; Trojan, J.; Jungling, B.; Zeuzem, S.; Raedle, J. BRAF mutations in colorectal carcinoma suggests two entities of microsatellite-unstable tumours. Cancers 2005, 104, 952-961.
74. Ogino, S.; Kawasaki, T.; Kirkner, G.J.; Loda, M.; Fuchs, C. CpG island methylator phenotype-low (CIMP-low) in colorectal cancer: possible associations with male sex and KRAS mutations. J. Mol. Diagn. 2006, 8, 582-588.
75. Samowitz, W.S.; Sweeney, C.; Herrick, J.; Albertsen, H.; Levin, T.R.; Murtaugh, M.A.; Wolff, R.K.; Slattery, M.L. Poor survival associated with the BRAF V600E mutation in microsatellite-stable colon cancers. Cancers Res. 2005, 65, 6063-6069.
76. Russo, A.; Bazan, V.; Iacopetta, B.; Kerr, D.; Soussi, T.; Gebbia, N. The TP53 colorectal cancer international collaborative study on the prognostic and predictive significance of p53 mutation: Influence of tumour site, type of mutation and adjuvant treatment. J. Clin. Oncol. 2005, 23, 7518-7528.
77. Matsuzaki, K.; Deng, G.; Tanaka, H.; Kakar, S.; Miura, S.; Kim, Y.S. The relationship between global methylation level, loss of heterozygosity and microsatellite instabilityin sporadic colorectal cancer. Clin. Cancer Res. 2005, 11, 8564-8569.
78. Rodriguez, J.; Frigola, J.; Vendrell, E.; Risques, R.A.; Fraga, M.F.; Morales, C.; Moreno, V.; Esteller, M.; Capellà, G.; Ribas, M.; Peinado, M.A. Chromosomal instability correlates with genome wide DNA demethylation in human primary colorectal cancer. Cancer Res. 2006, 66, 8462-9458.
79. Kondo, Y.; Issa, J.P. Epigenetic changes in colorectal cancer. Cancer Metast. Rev. 2004, 23, 29-39.
80. Cunningham, J.M.; Christensen, E.R.; Tester, D.J.; Kim, C.Y.; Roche, P.C.; Burgart, L.J.; Thibodeau, S.N. Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res. 1998, 58, 3455-3460.
81. Herman, J.G.; Umar, A.; Polyak, K.; Graff, J.R.; Ahuja, N.; Issa, J.P.; Markowitz, S.; Willson, J.K.; Hamilton, S.R.; Kinzler, K.W.; et al. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc. Natl. Acad. Sci. USA 1998, 95, 6870-6875.
82. Wheeler, J.M.; Beck, N.E.; Kim, H.C.; Tomlinson, I.P.; Mortensen, N.J.; Bodmer, W.F. Mechanisms of inactivation of mismatch repair genes in human colorectal cancer cell lines: The redominant role of hMLH1. Proc. Natl. Acad. Sci. USA 1999, 96, 10296-10301.
83. Kane, M.F.; Loda, M.; Gaida, G.M.; Lipman, J.; Mishra, R.; Goldman, H.; Jessup, J.M.; Kolodner, R. Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res. 1997, 57, 808-811.
84. Veigl, M.L.; Kasturi, L.; Olechnowicz, J.; Ma, A.H.; Lutterbaugh, J.D.; Periyasamy, S.; Li, G.M.; Drummond, J.; Modrich, P.L.; Sedwick, W.D.; Markowitz, S.D. Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers. Proc. Natl. Acad. Sci. USA 1998, 95, 8698-8702.
85. Suzuki, H.; Watkins, D.N.; Jair, K.W.; Schuebel, K.E.; Markowitz, S.D.; Chen, W.D.; Pretlow, T.P.; Yang, B.; Akiyama, Y.; van Engeland, M.; et al. Epigenetic inactivation of SFRP genes allows constitutive WNT signaling in colorectal cancer. Nat. Genet. 2004, 36, 417-422.
86. Chen, W.D.; Han, Z.J.; Skoletsky, J.; Olson, J.; Sah, J.; Myeroff, L.; Platzer, P.; Lu, S.; Dawson, D.; Willis, J.; et al. Detection in fecal DNA of colon cancer-specific methylation of the nonexpressed vimentin gene. J. Nat. Cancer Inst. 2005, 97, 1124-1132.
87. Petko, Z.; Ghiassi, M.; Shuber, A.; Gorham, J.; Smalley, W.; Washington, M.K.; Schultenover, S.; Gautam, S.; Markowitz, S.D.; Grady, W.M. Aberrantly methylated CDKN2A, MGMT, and MLH1 in colon polyps and in fecal DNA from patients with colorectal polyps. Clin. Cancer Res. 2005, 11, 1203-1209.
88. Grady, W.M.; Rajput, A.; Lutterbaugh, J.D.; Markowitz, S.D. Detection of aberrantly methylated hMLH1 promoter DNA in the serum of patients with microsatellite unstable colon cancer. Cancer Res. 2001, 61, 900-902.
89. Rijnsoever, M.; Elsaleh, H.; Joseph, D.; McCaul, K.; Iacopetta, B. CpG island methylator phenotype is an independent predictor of survival benefit from 5-fluorouracil in stage II colorectal cancer. Clin. Cancer Res. 2003, 9, 2898-2903.
90. Jover, R.; Nguyen, T.P.; Pérez-Carbonell, L.; Zapater, P.; Payá, A.; Alenda, C.; Rojas, E.; Cubiella, J.; Balaguer, F.; Morillas, J.D.; et al. 5-Fluorouracil adjuvant chemotherapy does not increase survival in patients with CpG island methylator phenotype colorectal cancer. Gastroenterology 2010, 140, 1174-1181.
91. Griffiths, E.A.; Gore, S.D. DNA methyltransferase and histone deacetylase inhibitors in the treatment of myelodysplastic syndromes. Semin. Hematol. 2008, 45, 23-30.
92. Ogino, S.; Hazra Tranah, G.J.; Kirkner, G.J.; Kawasaki, T.; Nosho, K.; Ohnishi, M.; Suemoto, Y.; Meyerhardt, J.A.; Hunter, D.J.; Fuchs, C.S. MGMT germline polymorphism is associated with somatic MGMT promoter methylation and gene silencing in colorectal cancer. Carcinogenesis 2007, 28, 1985-1990.
93. Shen, L.; Kondo, Y.; Rosner, G.L.; Xiao, L.; Hernandez, N.S.; Vilaythong, J.; Houlihan, P.S.; Krouse, R.S.; Prasad, A.R.; Einspahr, J.G.; et al. MGMT promoter methylation and field defect in sporadic colorectal cancer. J. Nat. Cancer Inst. 2005, 21, 1317-1379.
94. Shima, K.; Morikawa, T.; Baba, Y.; Suzuki, M.; Yamauchi, M.; Hayashi, M.; Giovannucci, E.; Fuchs, C.S.; Ogino, S. MGMT promoter methylation, loss of expression and prognosis in 855 colorectal cancers. Cancer Causes Control 2011, 22, 301-309.
95. American College of Physicians. Suggested technique for fecal occult blood testing and interpretation in colorectal cancer screening. Ann. Int. Med. 1997, 126, 808-810.
96. Mandel, J.S.; Bond, J.H.; Church, T.R.; Snover, D.C.; Bradley, G.M.; Schuman, L.M.; Ederer, F. Reducing mortality from colorectal cancer by screening for fecal occult blood. N. Engl. J. Med. 1993, 328, 1365-1371.
97. Mandel, J.S.; Church, T.R.; Ederer, F.; Bond, J.H. Colorectal cancer mortality: Effectiveness of biennial screening for fecal occult blood. J. Nat. Cancer Inst. 1999, 91, 434-437.
98. Kim, Y.H.; Lee, H.C.; Kim, S.Y.; Yeom, Y.I.; Ryu, K.J.; Min, B.H.; Kim, D.H.; Son, H.J.; Rhee, P.L.; Kim, J.J.; et al. Epigenomic analysis of aberrantly methylated genes in colorectal cancer identifies genes commonly affected by epigenetic alterations. Ann Surg Oncol. 2011, doi: 10.1245/s10434-011-1573-y.
99. Brenner, D.E.; Rennert, G. Fecal DNA biomarkers for the detection of colorectal neoplasia: Attractive, but is it feasible? J. Nat. Cancer Inst. 2005, 97, 1107-1109.
100. Li, M.; Chen, W.D.; Papadopoulos, N.; Goodman, S.N.; Bjerregaard, N.C.; Laurberg, S.; Levin, B.; Juhl, H.; Arber, N.; Moinova, H.; et al. Sensitive digital quantification of DNA methylation in clinical samples. Nat. Biotechnol. 2009, 27, 853-863.
101. Cohen, S.J.; Punt, C.J.A.; Iannotti, N.; Saidman, B.H.; Sabbath, K.D.; Gabrail, N.Y.; Picus, J.; Morse, M.A.; Mitchell, E.; Miller, M.C.; et al. Prognostic significance of circulating tumour cells in patients with metastatic colorectal cancer. Ann. Oncol. 2009, 20, 1223-1229.
102. Cohen, S.J.; Punt, C.J.A.; Iannotti, N.; Saidman, B.H.; Sabbath, K.D.; Gabrail, N.Y.; Picus, J.; Morse, M.; Mitchell, E.; Miller, M.C.; et al. Relationship of circulating tumour cells to tumour response, progression-free survival, and overall survival in patients with metastatic colorectal cancer. J. Clin. Oncol. 2008, 26, 3213-3221.
103. Tol, J.; Koopman, M.; Miller, M.C.; Tibbe, A.; Cats, A.; Creemers, G.J.; Vos, A.H.; Nagtegaal, I.D.; Terstappen, L.W.; Punt, C.J. Circulating tumour cells early predict progression-free and overall survival in advanced colorectal cancer patients treated with chemotherapy and targeted agents. Ann. Oncol. 2009, 21, 1006-1012.
104. Uen, Y.H.; Lu, C.Y.; Tsai, H.L.; Yu, F.J.; Huang, M.Y.; Cheng, T.L.; Lin, S.R.; Wang, J.Y. Persistent presence of postoperative circulating tumour cells is a poor prognostic factor for patients with stage I-III colorectal cancer after curative resection. Ann. Surg. Oncol. 2008, 15, 2120-2128.
105. Harvey, N.T.; Ruszkiewicz, A. Serrated neoplasia of the colorectum. World J. Gastroenterol. 2007, 28, 3792-3798.
106. O'Connell, M.J.; Lavery, I.C.; Gray, R.G.; Quirke, P.; Kerr, D.J.; Lopatin, M.; Yothers, G.A.; Lee, M.; Clark-Langone, K.; Wolmark, N. Comparison of Molecular and Pathologic Features of Stage II and Stage III Colon Cancer in Four Large Studies Conducted for Development of the 12-Gene Colon Cancer Recurrenced Score. Proceeding of 2010 Gastrointestinal Cancer Symposium, Orlando, Florida, January 22-24, 2010, Abstract 280.
107. McAllister, S.S.; Weinberg, R.A. Tumor-host interactions: A far-reaching relationship. J. Clin. Oncol. 2010, 28, 4022-4028.
108. Belov, L.; Zhou, J.; Richard, I. Christopherson, cell surface markers in colorectal cancer prognosis. Int. J. Mol. Sci. 2011, 12, 78-113.
109. Mandrekar, S.J.; Sargent, D.J. Clinical trial designs for predictive biomarker validation: theoretical considerations and practical challenges. J. Clin. Oncol. 2009, 24, 4027-4034.
110. Wild, N.; Andres, H.; Rollinger, W.; Krause, F.; Dilba, P.; Tacke, M.; Karl, J. A combination of serum markers for the early detection of colorectal cancer. Clin. Cancer Res. 2010, 24, 6111-6121.
111. Broderick, P.; Carvajal-Carmona, L.; Pittman, A.M.; Webb, E.; Howarth, K.; Rowan, A.; Lubbe, S.; Spain, S.; Sullivan, K.; Fielding, S.; et al. A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nat. Genet. 2007, 11, 1315-1317.