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Gastroenterology Research and Practice
Volume 2015, Article ID 132190, 10 pages
http://dx.doi.org/10.1155/2015/132190
Research Article

Molecular Features and Methylation Status in Early Onset (≤40 Years) Colorectal Cancer: A Population Based, Case-Control Study

1Dipartimento di Medicina Diagnostica, Clinica e Sanità Pubblica, Università di Modena e Reggio Emilia, 41124 Modena, Italy
2Dipartimento di Chirurgia e Scienze Morfologiche, Università dell’Insubria, 21100 Varese, Italy
3Divisione di Anatomia Patologica, Policlinico di Modena, 41124 Modena, Italy

Received 20 January 2015; Accepted 2 April 2015

Academic Editor: Miroslav Zavoral

Copyright © 2015 Giulia Magnani et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. H. Raskov, H. C. Pommergaard, J. Burcharth, and J. Rosenberg, “Colorectal carcinogenesis—update and perspectives,” World Journal of Gastroenterology, vol. 20, no. 48, pp. 18151–18164, 2014. View at Publisher · View at Google Scholar
  2. J. Weitz, M. Koch, J. Debus, T. Höhler, P. R. Galle, and M. W. Büchler, “Colorectal cancer,” The Lancet, vol. 365, no. 9454, pp. 153–165, 2005. View at Publisher · View at Google Scholar · View at Scopus
  3. J. E. Meyer, T. Narang, F. H. Schnoll-Sussman, M. B. Pochapin, P. J. Christos, and D. L. Sherr, “Increasing incidence of rectal cancer in patients aged younger than 40 years: an analysis of the surveillance, epidemiology, and end results database,” Cancer, vol. 116, no. 18, pp. 4354–4359, 2010. View at Publisher · View at Google Scholar · View at Scopus
  4. R. Siegel, D. Naishadham, and A. Jemal, “Cancer statistics, 2012,” CA: A Cancer Journal for Clinicians, vol. 62, no. 1, pp. 10–29, 2012. View at Publisher · View at Google Scholar · View at Scopus
  5. F. Domati, S. Maffei, S. Kaleci et al., “Incidence, clinical features and possible etiology of early onset (40 years) colorectal neoplasms,” Internal and Emergency Medicine, vol. 9, no. 6, pp. 623–631, 2013. View at Publisher · View at Google Scholar
  6. S. Ganapathi, D. Kumar, N. Katsoulas et al., “Colorectal cancer in the young: trends, characteristics and outcome,” International Journal of Colorectal Disease, vol. 26, no. 7, pp. 927–934, 2011. View at Publisher · View at Google Scholar · View at Scopus
  7. L. Losi, C. Di Gregorio, M. Pedroni et al., “Molecular genetic alterations and clinical features in early-onset colorectal carcinomas and their role for the recognition of hereditary cancer syndromes,” American Journal of Gastroenterology, vol. 100, no. 10, pp. 2280–2287, 2005. View at Publisher · View at Google Scholar · View at Scopus
  8. J. E. Meyer, T. Narang, F. H. Schnoll-Sussman, M. B. Pochapin, P. J. Christos, and D. L. Sherr, “Increasing incidence of rectal cancer in patients aged younger than 40 years: an analysis of the surveillance, epidemiology, and end results database,” Cancer, vol. 116, no. 18, pp. 4354–4359, 2010. View at Publisher · View at Google Scholar · View at Scopus
  9. D. T. Chang, R. K. Pai, L. A. Rybicki et al., “Clinicopathologic and molecular features of sporadic early-onset colorectal adenocarcinoma: an adenocarcinoma with frequent signet ring cell differentiation, rectal and sigmoid involvement, and adverse morphologic features,” Modern Pathology, vol. 25, no. 8, pp. 1128–1139, 2012. View at Publisher · View at Google Scholar · View at Scopus
  10. R. Gryfe, H. Kim, E. T. K. Hsieh et al., “Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer,” The New England Journal of Medicine, vol. 342, no. 2, pp. 69–77, 2000. View at Publisher · View at Google Scholar · View at Scopus
  11. K. W. Jasperson, T. M. Vu, A. L. Schwab et al., “Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis,” Familial Cancer, vol. 9, no. 2, pp. 99–107, 2010. View at Publisher · View at Google Scholar
  12. L. Sehofield, N. Watson, F. Grieu et al., “Population-based detection of lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test,” International Journal of Cancer, vol. 124, no. 5, pp. 1097–1102, 2009. View at Publisher · View at Google Scholar · View at Scopus
  13. F. Balaguer, S. Castellví-Bel, A. Castells et al., “Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study,” Clinical Gastroenterology and Hepatology, vol. 5, no. 3, pp. 379–387, 2007. View at Publisher · View at Google Scholar · View at Scopus
  14. T. J. McGarrity, H. E. Kulin, and R. J. Zaino, “Peutz-Jeghers syndrome,” The American Journal of Gastroenterology, vol. 95, no. 3, pp. 596–604, 2000. View at Publisher · View at Google Scholar · View at Scopus
  15. R. Pilarski, J. A. Stephens, R. Noss, J. L. Fisher, and T. W. Prior, “Predicting PTEN mutations: an evaluation of cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features,” Journal of Medical Genetics, vol. 48, no. 8, pp. 505–512, 2011. View at Publisher · View at Google Scholar · View at Scopus
  16. S. M. Farrington, A. Tenesa, R. Barnetson et al., “Germline susceptibility to colorectal cancer due to base-excision repair gene defects,” American Journal of Human Genetics, vol. 77, no. 1, pp. 112–119, 2005. View at Publisher · View at Google Scholar · View at Scopus
  17. M. Berg, S. A. Danielsen, A. Terje et al., “DNA sequence profiles of the colorectal cancer critical gene set KRAS-BRAF-PIK3CA-PTEN-TP53 related to age at disease onset,” PLoS ONE, vol. 5, no. 11, Article ID e13978, 2010. View at Publisher · View at Google Scholar · View at Scopus
  18. J. P. Terdiman, T. R. Levin, B. A. Allen et al., “Hereditary nonpolyposis colorectal cancer in young colorectal cancer patients: high-risk clinic versus population-based registry,” Gastroenterology, vol. 122, no. 4, pp. 940–947, 2002. View at Publisher · View at Google Scholar · View at Scopus
  19. J. Perea, D. Rueda, A. Canal et al., “Age at onset should be a major criterion for subclassification of colorectal cancer,” The Journal of Molecular Diagnostics, vol. 16, no. 1, pp. 116–126, 2014. View at Publisher · View at Google Scholar · View at Scopus
  20. S. B. Edge and C. C. Compton, “The American Joint Committee on Cancer: the 7th edition of the AJCC cancer staging manual and the future of TNM,” Annals of Surgical Oncology, vol. 17, no. 6, pp. 1471–1474, 2010. View at Publisher · View at Google Scholar · View at Scopus
  21. M. Pedroni, B. Roncari, S. Maffei et al., “A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations,” Disease Markers, vol. 23, no. 3, pp. 179–187, 2007. View at Publisher · View at Google Scholar · View at Scopus
  22. N. Suraweera, A. Duval, M. Reperant et al., “Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR,” Gastroenterology, vol. 123, no. 6, pp. 1804–1811, 2002. View at Publisher · View at Google Scholar · View at Scopus
  23. R. M. Xicola, X. Llor, E. Pons et al., “Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors,” Journal of the National Cancer Institute, vol. 99, no. 3, pp. 244–252, 2007. View at Publisher · View at Google Scholar · View at Scopus
  24. V. Deschoolmeester, M. Baay, W. Wuyts et al., “Detection of microsatellite instability in colorectal cancer using an alternative multiplex assay of quasi-monomorphic mononucleotide markers,” Journal of Molecular Diagnostics, vol. 10, no. 2, pp. 154–159, 2008. View at Publisher · View at Google Scholar · View at Scopus
  25. M. P. Quinlan and J. Settleman, “Isoform-specific ras functions in development and cancer,” Future Oncology, vol. 5, no. 1, pp. 105–116, 2009. View at Publisher · View at Google Scholar · View at Scopus
  26. A. O. H. Nygren, N. Ameziane, H. M. B. Duarte et al., “Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences,” Nucleic Acids Research, vol. 33, no. 14, article e128, 2005. View at Publisher · View at Google Scholar · View at Scopus
  27. D. Furlan, N. Sahnane, B. Bernasconi et al., “APC alterations are frequently involved in the pathogenesis of acinar cell carcinoma of the pancreas, mainly through gene loss and promoter hypermethylation,” Virchows Archiv, vol. 464, pp. 553–564, 2014. View at Publisher · View at Google Scholar · View at Scopus
  28. A. S. Yang, M. R. H. Estécio, K. Doshi, Y. Kondo, E. H. Tajara, and J. P. J. Issa, “A simple method for estimating global DNA methylation using bisulfite PCR of repetitive DNA elements,” Nucleic Acids Research, vol. 32, no. 3, article e38, 2004. View at Publisher · View at Google Scholar · View at Scopus
  29. M.-H. Tan, J. Mester, C. Peterson et al., “A clinical scoring system for selection of patients for pten mutation testing is proposed on the basis of a prospective study of 3042 probands,” American Journal of Human Genetics, vol. 88, no. 1, pp. 42–56, 2011. View at Publisher · View at Google Scholar · View at Scopus
  30. A. D. Beggs, A. R. Latchford, H. F. A. Vasen et al., “Peutz-Jeghers syndrome: a systematic review and recommendations for management,” Gut, vol. 59, no. 7, pp. 975–986, 2010. View at Publisher · View at Google Scholar · View at Scopus
  31. S. E. Plon, D. M. Eccles, D. Easton et al., “Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results,” Human Mutation, vol. 29, no. 11, pp. 1282–1291, 2008. View at Publisher · View at Google Scholar · View at Scopus
  32. Y. Baba, C. Huttenhower, K. Nosho et al., “Epigenomic diversity of colorectal cancer indicated by LINE-1 methylation in a database of 869 tumors,” Molecular Cancer, vol. 9, article 125, 2010. View at Publisher · View at Google Scholar · View at Scopus
  33. A. R. Mensenkamp, I. P. Vogelaar, W. A. G. van Zelst-Stams et al., “Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in lynch syndrome-like tumors,” Gastroenterology, vol. 146, no. 3, pp. 643–646, 2014. View at Publisher · View at Google Scholar · View at Scopus
  34. J. Plaschke, C. Engel, S. Krüger et al., “Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German hereditary nonpolyposis colorectal cancer consortium,” Journal of Clinical Oncology, vol. 22, no. 22, pp. 4486–4494, 2004. View at Publisher · View at Google Scholar · View at Scopus
  35. C. Pinto, I. Veiga, M. Pinheiro et al., “MSH6 germline mutations in early-onset colorectal cancer patients without family history of the disease,” British Journal of Cancer, vol. 95, no. 6, pp. 752–756, 2006. View at Publisher · View at Google Scholar · View at Scopus
  36. M. D. Giráldez, F. Balaguer, L. Bujanda et al., “MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer,” Clinical Cancer Research, vol. 16, no. 22, pp. 5402–5413, 2010. View at Publisher · View at Google Scholar · View at Scopus
  37. M. D. Giráldez, S. Castellví-Bel, F. Balaguer, V. Gonzalo, T. Ocaña, and A. Castells, “Lynch syndrome in colorectal cancer patients,” Expert Review of Anticancer Therapy, vol. 8, no. 4, pp. 573–583, 2008. View at Publisher · View at Google Scholar · View at Scopus
  38. D. J. Ahnen, S. W. Wade, W. F. Jones et al., “The increasing incidence of young-onset colorectal cancer: a call to action,” Mayo Clinic Proceedings, vol. 89, no. 2, pp. 216–224, 2014. View at Publisher · View at Google Scholar · View at Scopus
  39. M. Antelo, F. Balaguer, J. Shia et al., “A high degree of LINE-1 hypomethylation is a unique feature of early-onset colorectal cancer,” PLoS ONE, vol. 7, no. 9, Article ID e45357, 2012. View at Publisher · View at Google Scholar · View at Scopus
  40. J. Brändstedt, S. Wangefjord, B. Nodin et al., “Associations of anthropometric factors with KRAS and BRAF mutation status of primary colorectal cancer in men and women: a cohort study,” PLoS ONE, vol. 9, no. 6, Article ID e98964, 2014. View at Publisher · View at Google Scholar
  41. A. Goel, T. Nagasaka, C. N. Arnold et al., “The CpG island methylator phenotype and chromosomal instability are inversely correlated in sporadic colorectal cancer,” Gastroenterology, vol. 132, no. 1, pp. 127–138, 2007. View at Publisher · View at Google Scholar · View at Scopus
  42. S. Ogino, T. Kawasaki, G. J. Kirkner, P. Kraft, M. Loda, and C. S. Fuchs, “Evaluation of markers for CpG Island Methylator Phenotype (CIMP) in colorectal cancer by a large population-based sample,” Journal of Molecular Diagnostics, vol. 9, no. 3, pp. 305–314, 2007. View at Publisher · View at Google Scholar · View at Scopus
  43. J. R. Jass, “Classification of colorectal cancer based on correlation of clinical, morphological and molecular features,” Histopathology, vol. 50, no. 1, pp. 113–130, 2007. View at Publisher · View at Google Scholar · View at Scopus
  44. H. M. Müller, M. Oberwalder, H. Fiegl et al., “Methylation changes in faecal DNA: a marker for colorectal cancer screening?” The Lancet, vol. 363, no. 9417, pp. 1283–1285, 2004. View at Publisher · View at Google Scholar · View at Scopus
  45. J.-P. J. Issa, Y. L. Ottaviano, P. Celano, S. R. Hamilton, N. E. Davidson, and S. B. Baylin, “Methylation of the oestrogen receptor CpG island links ageing and neoplasia in human colon,” Nature Genetics, vol. 7, no. 4, pp. 536–540, 1994. View at Publisher · View at Google Scholar · View at Scopus
  46. D. M. E. I. Hellebrekers, M. H. F. M. Lentjes, S. M. van den Bosch et al., “GATA4 and GATA5 are potential tumor suppressors and biomarkers in colorectal cancer,” Clinical Cancer Research, vol. 15, no. 12, pp. 3990–3997, 2009. View at Publisher · View at Google Scholar · View at Scopus
  47. X.-L. Xu, J. Yu, H.-Y. Zhang et al., “Methylation profile of the promoter CpG islands of 31 genes that may contribute to colorectal carcinogenesis,” World Journal of Gastroenterology, vol. 10, no. 23, pp. 3441–3454, 2004. View at Google Scholar · View at Scopus
  48. M. O. Hiltunen, J. Koistinaho, L. Alhonen et al., “Hypermethylation of the WT1 and calcitonin gene promoter regions at chromosome 11P in human colorectal cancer,” British Journal of Cancer, vol. 76, no. 9, pp. 1124–1130, 1997. View at Publisher · View at Google Scholar · View at Scopus
  49. Y. Baba, K. Nosho, K. Shima et al., “Hypomethylation of the IGF2 DMR in colorectal tumors, detected by bisulfite pyrosequencing, is associated with poor prognosis,” Gastroenterology, vol. 139, no. 6, pp. 1855–1864, 2010. View at Publisher · View at Google Scholar · View at Scopus
  50. E. M. Wolff, H.-M. Byun, H. F. Han et al., “Hypomethylation of a LINE-1 promoter activates an alternate transcript of the MET oncogene in bladders with cancer,” PLoS Genetics, vol. 6, no. 4, Article ID e1000917, 2010. View at Publisher · View at Google Scholar · View at Scopus
  51. P. A. Jones and S. B. Baylin, “The epigenomics of cancer,” Cell, vol. 128, no. 4, pp. 683–692, 2007. View at Publisher · View at Google Scholar · View at Scopus
  52. E. Sunami, M. de Maat, A. Vu, R. R. Turner, and D. S. B. Hoon, “LINE-1 hypomethylation during primary colon cancer progression,” PLoS ONE, vol. 6, no. 4, Article ID e18884, 2011. View at Publisher · View at Google Scholar · View at Scopus