2. Coppede F. Epigenetic biomarkers of colorectal cancer: Focus on DNA methylation. Cancer Lett 2014;342:238-247.PMID:
22202641.
3. Coppede F, Lopomo A, Spisni R, Migliore L. Genetic and epigenetic biomarkers for diagnosis, prognosis and treatment of colorectal cancer. World J Gastroenterol 2014;20:943-956.PMID:
24574767.
4. Marisa L, de Reynies A, Duval A, et al. Gene expression classification of colon cancer into molecular subtypes: characterization, validation, and prognostic value. PLoS Med 2013;10:e1001453PMID:
23700391.
5. Tsang AH, Cheng KH, Wong AS, et al. Current and future molecular diagnostics in colorectal cancer and colorectal adenoma. World J Gastroenterol 2014;20:3847-3857.PMID:
24744577.
6. Bogaert J, Prenen H. Molecular genetics of colorectal cancer. Ann Gastroenterol 2014;27:9-14.PMID:
24714764.
8. Michor F, Iwasa Y, Lengauer C, Nowak MA. Dynamics of colorectal cancer. Semin Cancer Biol 2005;15:484-493.PMID:
16055342.
9. Lengauer C, Kinzler KW, Vogelstein B. Genetic instabilities in human cancers. Nature 1998;396:643-649.PMID:
9872311.
10. Pino MS, Chung DC. The chromosomal instability pathway in colon cancer. Gastroenterology 2010;138:2059-2072.PMID:
20420946.
11. Rajagopalan H, Nowak MA, Vogelstein B, Lengauer C. The significance of unstable chromosomes in colorectal cancer. Nat Rev Cancer 2003;3:695-701.PMID:
12951588.
12. Fearon ER. Molecular genetics of colorectal cancer. Annu Rev Pathol 2011;6:479-507.PMID:
21090969.
13. Al-Sohaily S, Biankin A, Leong R, Kohonen-Corish M, Warusavitarne J. Molecular pathways in colorectal cancer. J Gastroenterol Hepatol 2012;27:1423-1431.PMID:
22694276.
14. Legolvan MP, Taliano RJ, Resnick MB. Application of molecular techniques in the diagnosis, prognosis and management of patients with colorectal cancer: a practical approach. Hum Pathol 2012;43:1157-1168.PMID:
22658275.
15. Walther A, Houlston R, Tomlinson I. Association between chromosomal instability and prognosis in colorectal cancer: a meta-analysis. Gut 2008;57:941-950.PMID:
18364437.
16. Bardhan K, Liu K. Epigenetics and colorectal cancer pathogenesis. Cancers (Basel) 2013;5:676-713.PMID:
24216997.
17. Armaghany T, Wilson JD, Chu Q, Mills G. Genetic alterations in colorectal cancer. Gastrointest Cancer Res 2012;5:19-27.PMID:
22574233.
18. Umar A, Risinger JI, Hawk ET, Barrett JC. Testing guidelines for hereditary non-polyposis colorectal cancer. Nat Rev Cancer 2004;4:153-158.PMID:
14964310.
19. Narayan S, Roy D. Role of APC and DNA mismatch repair genes in the development of colorectal cancers. Mol Cancer 2003;2:41PMID:
14672538.
20. Kloor M, Staffa L, Ahadova A, von Knebel Doeberitz M. Clinical significance of microsatellite instability in colorectal cancer. Langenbecks Arch Surg 2014;399:23-31.PMID:
24048684.
21. Suk KT, Kim HS, Lee JH, et al. Clinicopathological characteristics of colorectal cancer according to microsatellite instability. Intest Res 2009;7:14-21.
22. Schnekenburger M, Diederich M. Epigenetics offer new horizons for colorectal cancer prevention. Curr Colorectal Cancer Rep 2012;8:66-81.PMID:
22389639.
23. Wu WK, Sung JJ. MicroRNA dysregulations in gastrointestinal cancers: pathophysiological and clinical perspectives. Intest Res 2012;10:324-331.
24. Esteller M. Aberrant DNA methylation as a cancer-inducing mechanism. Annu Rev Pharmacol Toxicol 2005;45:629-656.PMID:
15822191.
25. Esteller M. Cancer epigenomics: DNA methylomes and histone-modification maps. Nat Rev Genet 2007;8:286-298.PMID:
17339880.
26. Daniel FI, Cherubini K, Yurgel LS, de Figueiredo MA, Salum FG. The role of epigenetic transcription repression and DNA methyltransferases in cancer. Cancer 2011;117:677-687.PMID:
20945317.
27. Robertson KD. DNA methylation, methyltransferases, and cancer. Oncogene 2001;20:3139-3155.PMID:
11420731.
28. Sharp AJ, Stathaki E, Migliavacca E, et al. DNA methylation profiles of human active and inactive X chromosomes. Genome Res 2011;21:1592-1600.PMID:
21862626.
30. Jones PA, Baylin SB. The fundamental role of epigenetic events in cancer. Nat Rev Genet 2002;3:415-428.PMID:
12042769.
31. Domingo E, Niessen RC, Oliveira C, et al. BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes. Oncogene 2005;24:3995-3998.PMID:
15782118.
32. Rajagopalan H, Bardelli A, Lengauer C, Kinzler KW, Vogelstein B, Velculescu VE. Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. Nature 2002;418:934PMID:
12198537.
33. Fearon ER, Vogelstein B. A genetic model for colorectal tumorigenesis. Cell 1990;61:759-767.PMID:
2188735.
34. Johns LE, Houlston RS. A systematic review and meta-analysis of familial colorectal cancer risk. Am J Gastroenterol 2001;96:2992-3003.PMID:
11693338.
35. Gala M, Chung DC. Hereditary colon cancer syndromes. Semin Oncol 2011;38:490-499.PMID:
21810508.
36. Jasperson KW, Tuohy TM, Neklason DW, Burt RW. Hereditary and familial colon cancer. Gastroenterology 2010;138:2044-2058.PMID:
20420945.
37. Hampel H, Frankel WL, Martin E, et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 2008;26:5783-5788.PMID:
18809606.
38. Boland CR, Troncale FJ. Familial colonic cancer without antecedent polyposis. Ann Intern Med 1984;100:700-701.PMID:
6712034.
39. Marra G, Boland CR. Hereditary nonpolyposis colorectal cancer: the syndrome, the genes, and historical perspectives. J Natl Cancer Inst 1995;87:1114-1125.PMID:
7674315.
40. Bonis PA, Trikalinos TA, Chung M, et al. Evidence Report/Technology Assessment No. 150. Hereditary nonpolyposis colorectal cancer: diagnostic strategies and their implications. Rockville, MD: Agency for Healthcare Research and Quality, 2007.
41. Peltomaki P. Lynch syndrome genes. Fam Cancer 2005;4:227-232.PMID:
16136382.
42. Kastrinos F, Stoffel EM, Balmana J, Steyerberg EW, Mercado R, Syngal S. Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1,914 individuals undergoing clinical genetic testing in the United States. Cancer Epidemiol Biomarkers Prev 2008;17:2044-2051.PMID:
18708397.
43. Kovacs ME, Papp J, Szentirmay Z, Otto S, Olah E. Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. Hum Mutat 2009;30:197-203.PMID:
19177550.
44. Niessen RC, Hofstra RM, Westers H, et al. Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome. Genes Chromosomes Cancer 2009;48:737-744.PMID:
19455606.
45. Syngal S, Fox EA, Eng C, Kolodner RD, Garber JE. Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1. J Med Genet 2000;37:641-645.PMID:
10978352.
46. Pritchard CC, Grady WM. Colorectal cancer molecular biology moves into clinical practice. Gut 2011;60:116-129.PMID:
20921207.
47. Burt RW, Leppert MF, Slattery ML, et al. Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastroenterology 2004;127:444-451.PMID:
15300576.
48. Bjork J, Akerbrant H, Iselius L, et al. Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: cumulative risks and APC gene mutations. Gastroenterology 2001;121:1127-1135.PMID:
11677205.
49. Bulow S, Bjork J, Christensen IJ, et al. Duodenal adenomatosis in familial adenomatous polyposis. Gut 2004;53:381-386.PMID:
14960520.
50. Dobbie Z, Spycher M, Mary JL, et al. Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene. J Med Genet 1996;33:274-280.PMID:
8730280.
51. Nagy R, Sweet K, Eng C. Highly penetrant hereditary cancer syndromes. Oncogene 2004;23:6445-6470.PMID:
15322516.
52. Bisgaard ML, Fenger K, Bulow S, Niebuhr E, Mohr J. Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat 1994;3:121-125.PMID:
8199592.
53. Schreibman IR, Baker M, Amos C, McGarrity TJ. The hamartomatous polyposis syndromes: a clinical and molecular review. Am J Gastroenterol 2005;100:476-490.PMID:
15667510.
54. Giardiello FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 2000;119:1447-1453.PMID:
11113065.
55. Howe JR, Mitros FA, Summers RW. The risk of gastrointestinal carcinoma in familial juvenile polyposis. Ann Surg Oncol 1998;5:751-756.PMID:
9869523.
56. Hemminki A, Markie D, Tomlinson I, et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 1998;391:184-187.PMID:
9428765.
57. Howe JR, Roth S, Ringold JC, et al. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 1998;280:1086-1088.PMID:
9582123.
58. Aretz S. The differential diagnosis and surveillance of hereditary gastrointestinal polyposis syndromes. Dtsch Arztebl Int 2010;107:163-173.PMID:
20358032.
59. Briggs S, Tomlinson I. Germline and somatic polymerase epsilon and delta mutations define a new class of hypermutated colorectal and endometrial cancers. J Pathol 2013;230:148-153.PMID:
23447401.
60. Church JM. Polymerase proofreading-associated polyposis: a new, dominantly inherited syndrome of hereditary colorectal cancer predisposition. Dis Colon Rectum 2014;57:396-397.PMID:
24509466.
61. Seshagiri S. The burden of faulty proofreading in colon cancer. Nat Genet 2013;45:121-122.PMID:
23358219.
62. Palles C, Cazier JB, Howarth KM, et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 2013;45:136-144.PMID:
23263490.
64. Tomlinson IP, Carvajal-Carmona LG, Dobbins SE, et al. Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer. PLoS Genet 2011;7:e1002105PMID:
21655089.
66. Popat S, Hubner R, Houlston RS. Systematic review of microsatellite instability and colorectal cancer prognosis. J Clin Oncol 2005;23:609-618.PMID:
15659508.
67. Ribic CM, Sargent DJ, Moore MJ, 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.PMID:
12867608.
68. Bertagnolli MM, Niedzwiecki D, Compton CC, 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.PMID:
19273709.
69. Fallik D, Borrini F, Boige V, et al. Microsatellite instability is a predictive factor of the tumor response to irinotecan in patients with advanced colorectal cancer. Cancer Res 2003;63:5738-5744.PMID:
14522894.
70. Van Cutsem E, Kohne CH, Hitre E, et al. Cetuximab and chemotherapy as initial treatment for metastatic colorectal cancer. N Engl J Med 2009;360:1408-1417.PMID:
19339720.
71. Lyseng-Williamson KA. Cetuximab: a guide to its use in combination with FOLFIRI in the first-line treatment of metastatic colorectal cancer in the USA. Mol Diagn Ther 2012;16:317-322.PMID:
23055389.
72. Xu Q, Xu AT, Zhu MM, Tong JL, Xu XT, Ran ZH. Predictive and prognostic roles of BRAF mutation in patients with metastatic colorectal cancer treated with anti-epidermal growth factor receptor monoclonal antibodies: a meta-analysis. J Dig Dis 2013;14:409-416.PMID:
23615046.
73. Leshno A, Gat-Harlap A, Arber N. Can an aspirin a day keep the colorectal cancer away? Intest Res 2012;10:229-234.
74. Nishihara R, Lochhead P, Kuchiba A, et al. Aspirin use and risk of colorectal cancer according to BRAF mutation status. JAMA 2013;309:2563-2571.PMID:
23800934.
75. Liao X, Lochhead P, Nishihara R, et al. Aspirin use, tumor PIK3CA mutation, and colorectal-cancer survival. N Engl J Med 2012;367:1596-1606.PMID:
23094721.