Current concepts on the genetics of hereditary and sporadic colorectal cancer and the role of genetics in the patient management;A hereditaer és sporadikus colorectalis daganatok genetikája és a genetikai ismeretek jelentosége a mindennapi gyakorlatban: Sporadikus és IBD-asszociált colorectalis tumorok, illetve a genetikai vizsgálatok jelentosége a diagnózisban, prognózisban és a kemoterapiara adott valasz megitelesében

Orvosi Hetilap

Volumn 147, Issue 10, 2006, Pages 449-455

  Lakatos, Péter László ^a,b   Lakatos, László ^b  

^a SEMMELWEIS UNIVERSITY   (Hungary)

^b I Belgyógyászati Osztály ^*  (Hungary)

Author keywords

Colorectal cancer; CRC; FAP; Genetics; HNPCC; IBD associated CRC; Peutz Jeghers syndrome; Pharmacogenetics; Prognosis

Indexed keywords

ACETYLSALICYLIC ACID; ANTINEOPLASTIC AGENT; DNA; FLUOROURACIL; IRINOTECAN; MICROSATELLITE DNA;

ADENOMA; CANCER GENETICS; CANCER LOCALIZATION; CANCER SCREENING; CARCINOGENESIS; CARCINOMA; CHROMOSOMAL INSTABILITY; COLORECTAL CANCER; DIAGNOSTIC VALUE; DNA METHYLATION; ENTERITIS; FAMILIAL CANCER; FECES ANALYSIS; GENE EXPRESSION PROFILING; GENETIC HETEROGENEITY; GENETIC TRAIT; HUMAN; INDIVIDUALIZATION; MALIGNANT TRANSFORMATION; MICROSATELLITE INSTABILITY; MUTATIONAL ANALYSIS; PATIENT CARE; PHENOTYPIC VARIATION; PRECANCER; PREDICTION; PROGNOSIS; REVIEW; SENSITIVITY ANALYSIS; TREATMENT PLANNING; COLON POLYPOSIS; COLORECTAL TUMOR; GENE EXPRESSION REGULATION; GENETICS; IRRITABLE COLON; MUTATION; PEUTZ JEGHERS SYNDROME; PHARMACOGENETICS; TREATMENT OUTCOME;

ADENOMATOUS POLYPOSIS COLI; ANTINEOPLASTIC COMBINED CHEMOTHERAPY PROTOCOLS; CHROMOSOMAL INSTABILITY; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA METHYLATION; ENGLISH ABSTRACT; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; IRRITABLE BOWEL SYNDROME; MICROSATELLITE REPEATS; MUTATION; PEUTZ-JEGHERS SYNDROME; PHARMACOGENETICS; PROGNOSIS; TREATMENT OUTCOME;

EID: 33750537921     PISSN: 00306002     EISSN: 17886120     Source Type: Journal    
DOI: None     Document Type: Review

References (50)

1. Ahlquist, D. A., Skoletsky, J. E., Boynton, K. A. és mtsai: Colorectal screening by detection of altered human DNA in stool: feasibility of a multitarget assay panel. Gastroenterology, 2000, 119, 1219-1227.
2. Alhopuro, P., Ahvenainen, T., Mecklin, J. P. és mtsai: NOD2 3020insC alone is not sufficient for colorectal cancer predisposition. Cancer Res., 2004, 64, 7245-7247.
3. Arnold, C. N., Goel, A., Boland C. R.: Role of hMLH1 promoter hypermethylation in drug resistance to 5-FU in colorectal cell lines. Int. J. Cancer, 2003, 106, 66-73.
4. Aust, D. E., Terdiman, J. P., Willenbucher, R. F. és mtsai: The APC/b-Catenin Pathway in Ulcerative Colitis- Related Colorectal Carcinomas. Cancer, 2002, 94, 1421-1427.
5. Bechter, O. E., Zou, Y., Walker, W. és mtsai: Telomeric Recombination in Mismatch Repair Deficient Human Colon Cancer Cells after Telomerase Inhibition. Cancer Res., 2004, 64, 3444-3451.
6. Bigler, J., Whitton, J., Lampe, J. W. és mtsai: CYP2C9 and UGT1A/ genotypes modulate the protective effect of aspirin on adenoma risk. Cancer Res., 2001, 61, 3566-3569.
7. Birkenkamp-Demtroder, K., Olesen, S. H., Sorensen, F. B. és mtsai: Differential gene expression in colon cancer of the caecum versus the sigmoid and rectosigmoid. Gut, 2005, 54, 374-384.
8. Burri, N., Shaw, P., Bouzourene, H. és mtsai: Methylation silencing and mutations of the p14ARF and p16INK4a genes in colon cancer. Lab. Invest., 2001, 81, 219-229.
9. Einspahr, J. G., Krouse, R. S., Yochim, J. M. és mtsai: Association between Cyclooxygenase Expression and Colorectal Adenoma Characteristics. Cancer Res., 2003, 63, 3891-3893.
10. Esteller, M., Toyota, M., Sanches-Cespedes, M. és mtsai: Inactivation of the DNA repair gene O6-methylguanine-DNA methyltransferase by promoter hypermethylation is associated with G to A mutations in K-ras in colorectal cancer. Cancer Res., 2000, 60, 2368-2371.
11. Etienne, M. C. Formento, J. L., Chazal, M. és mtsai: Methylenetetrahydrofolate reductase gene polymorphisms and response to fluorouracil-based treatment in advanced colorectal cancer patients. Pharmacogenetics, 2004, 14, 785-792.
12. Fuszek, P., Lakatos, P., Tabak, A. és mtsai: Relationship between serum calcium and CA 19-9 levels in colorectal cancer. World J. Gastroenterol., 2004, 10, 1890-1892.
13. Gafá, R., Maestri, I., Matteuzzi, M. és mtsai: Sporadic colorectal adenocarcinomas with high frequency microsatellite instability. Cancer, 2000, 89, 2025-2037.
14. Gertler, R., Rosenberg, R., Stricker, D. és mtsai: Prognostic Potential of the Telomerase Subunit Human Telomerase Reverse Transcriptase in Tumor Tissue and Nontumorous Mucosa from Patients with Colorectal Carcinoma. Cancer, 2002, 95, 2103-2111.
15. Heinzlmann, M., Lang, S. M., Neynaber, S. és mtsai: Screening for p53 and K-ras mutations in whole-gut lavage in chronic inflammatory bowel disease. Eur. J. Gastroenterol. Hepatol., 2002, 14, 1061-1066.
16. Hemminki, A., Mecklin, J. P., Jarvinen, H. és mtsai: Microsatellite instability is a favorable prognostic indicator in patients with colorectal cancer receiving chemotherapy. Gastroenterology, 2000, 119, 921-928.
17. Hsieh, J. S., Lin, S. R., Chang, M. Y. és mtsai: APC, K-ras and p53 gene mutations in colorectal cancer patients: correlation to clinicopathologic features and postoperative surveillance. Am. Surg., 2005, 71, 336-343.
18. Imperiale, T. F., Ransohoff, D. F., Itzkowitz, S. H. és mtsai: Fecal DNA versus Fecal Occult Blood for Colorectal-Cancer Screening in an Average-Risk Population. N. Engl. J. Med., 2004, 351, 2704-2714.
19. Ishitsuka, T., Kashiwagi, H., Konishi, F.: Microsatellite instability and neoplastic epithelium in ulcerative colitis. J. Clin. Pathol., 2001, 54, 526-532.
20. Itzkowitz, S. H., Harpaz, N.: Diagnosis and Management of Dysplasia in Patients With Inflammatory Bowel Diseases. Gastroenterology, 2004, 126, 1634-1648.
21. Jiricny, J., Marra, G.: DNA repair defects in colon cancer. Current. Opin. Genetics Development, 2003, 13, 61-69.
22. Kakar, S., Burgart, L. J., Thibodeau, S. N. és mtsai: Frequency of Loss of hMLH1 Expression in Colorectal Carcinoma Increases with Advancing Age. Cancer, 2003, 97, 1421-1427.
23. Kono, S., Chen, K.: Genetic polymorphisms of methylenetetrahydrofolate reductase and colorectal cancer and adenoma. Cancer Sci., 2005, 96, 535-542.
24. Kurzawski, G., Suchy, J., KÛadny, J. és mtsai: The NOD2 3020insC Mutation and the Risk of Colorectal Cancer. Cancer Res., 2004, 64, 1604-1606.
25. Kweekel, D. M., Gelderblom, H., Guchelaar, H. J.: Pharmacology of oxaliplatin and the use of pharmacogenomics to individualize therapy. Cancer Treat. Rev., 2005, 31, 90-105.
26. Lakatos P. L., Lakatos, L., Pár, A. és mtsa: Gastrointestinalis genetika és génterápiás lehetoségek a nyelocso, a gyomor, a colon és a pancreas betegségeiben. Orv. Hetil., 2001, 142, 2883-2891.
27. Lakatos P. L., Lakatos, L.: A hereditaer és sporadikus colorectalis daganatok genetikája és a genetikai ismeretek jelentosége a mindennapi gyakorlatban - I, Herediter colorectális daganatok. Orv. Hetil., 2006, 147, 363-368.
28. Lashner, B. A., Shapiro, B. D., Husain, A. és mtsa: Evaluation of the usefulness of testing for p53 mutations in colorectal cancer surveillance for ulcerative colitis. Am. J. Gastroenterol., 1999, 94, 456-462.
29. Lentz, F., Tran, A., Rey, E. és mtsai: Pharmacogenomics of fluorouracil, irinotecan and oxaliplatin in hepatic metastases of colorectal cancer: clinical implications. Am. J. Pharmacogenomics, 2005, 5, 21-33.
30. Lipkin, S. M., Rozek, L. S., Rennert, G. és mtsai: The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer. Nat. Genet., 2004, 36, 694-699.
31. Maltzman, T., Knoll, K., Martinez, M. E. és mtsai: Ki-ras proto-oncogene mutations in sporadic colorectal adenomas: relationship to histologic and clinical characteristics. Gastroenterology, 2001, 121, 302-309.
32. Marsh, S., McLeod, H. L.: Pharmacogenetics of irinotecan toxicity. Pharmacogenomics, 2004, 5, 835-843.
33. Mori, Y., Yin, J., Sato F. és mtsai: Identification of Genes Uniquely Involved in Frequent Microsatellite Instability Colon Carcinogenesis by Expression Profiling Combined with Epigenetic Scanning. Cancer Res., 2004, 64, 2434-2438.
34. Nambiar, P. R., Nakanishi, M., Gupta, R. és mtsai: Genetic signatures of High- and Low-Risk Aberrant Crypt Foci in a Mouse Model of Sporadic Colon Cancer. Cancer Res., 2004, 64, 6394-6401.
35. Oda, S., Maehara, Y., Ykeda, Y. és mtsai: Two modes of microsatellite instability in human cancer: differential connection of defective DNA mismatch repair to dinucleotide repeat instability. Nucleic Acid Res., 2005, 33, 1628-1636.
36. Plentz, R. R., Wiemann, S. U., Flemming, P. és mtsai: Telomere shortening of epithelial cells characterises the adenoma-carcinoma transition of human colorectal cancer. Gut, 2003, 52, 1304-1307.
37. Risques, R. A., Moreno, V., Ribas, M. és mtsai: Genetic Pathways and Genome-Wide Determinants of Clinical Outcome in Colorectal Cancer. Cancer Res., 2003, 63, 7206-7214.
38. Rowan, A. J., Lamlum, H., Ilyas, M. és mtsai: APC mutations in sporadic colorectal tumors: a mutational "hotspot" and interdependence of the "two hits". PNAS, 2000, 97, 3352-3357.
39. Rupnarain, C., Diamini, Z., Naicker, S. és mtsa: Colon cancer: genomics and apoptotic events. Biol. Chem., 2004, 385, 449-464.
40. Sato, F., Harpaz, N., Shibata, D. és mtsai: Hypermethylation pf the p14ARF gene in ulcerative colitis associated colorectal carcinogenesis. Cancer Res., 2002, 62, 1148-1151.
41. Shih, I. M., Zhou, W., Goodman, S. N. és mtsai: Evidence that genetic instability occurs at an early stage of colorectal carcinogenesis. Cancer Res., 2001, 61, 818-822.
42. Sholi, Y., Yoshinaga, K., Inoue, A. és mtsai: Quantification of telomerase activity in sporadic colorectal carcinoma. Cancer, 2000, 88, 1304-1309.
43. Speer, G., Cseh, K., Winkler, G. és mtsai: Oestrogen and vitamin D receptor (VDR) genotypes and the expression of erbB-2 and EGF receptor in human rectal cancers. Eur. J. Cancer, 2001, 37, 1463-1468.
44. Stern, H. S., Viertelhausen, S., Hunter, A. G. W. és mtsai: APC 11 307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews. Gastroenterology, 2001, 120, 392-400.
45. Swamy, M. V., Herzog, C. R., Rao, C. V.: Inhibition of COX-2 in Colon Cancer Cell Lines by Celecoxib Increases the Nuclear Localization of Active p53. Cancer Res., 2003, 63, 5239-5242.
46. Tycko, B.: Epigenetic gene silencing in cancer. J. Clin. Invest., 2000, 105, 401-408.
47. Vallbohmer, D., Zhang, W., Gordon, M. és mtsai: Molecular determinants of cetuximab efficacy. J. Clin. Oncol., 2005, 23, 3536-3544.
48. Watanabe, T., Wu, T. T., Catalano, P. J. és mtsai: Molecular predictors of survival after adjuvant chemotherapy for colon cancer. N. Engl. J. Med., 2001, 344, 1196-1206.
49. Westra, J. L., Plukker, J. T., Buys, C. H. és mtsa: Genetic alterations in locally advanced stage II/III colon cancer: search for prognostic markets. Clin. Colorectal. Cancer, 2004, 4, 252-259.
50. Zhou, W., Goodman, S. N., Galizia, G. és mtsai: Counting alleles to predict recurrence of early-stage colorectal Cancers. Lancet, 2002, 359, 219-225.