Biology and genetics of colorectal cancer
DOI:
https://doi.org/10.5281/zenodo.846070Keywords:
colorectal neplasms, cancer genes, genes, tumor suppressing, Adenomatous Polyposis Coli, Attenuated familial adenomatous polyposis, Colorectal neoplasms, hereditary nonpolyposisAbstract
Colorectal cancer is one of the most common malignant tumors. The frequency and potential for prevention put colorectal cancer at the center of attention of oncologists around the world. Malignant transformation is the result of the accumulation of mutations of numerous genes that are critical to regulating cell growth and differentiation, either due to increasing of the rate of mutations or due to the damage of DNA repair mechanisms. In this review, we discuss biology and genetics of colorectal cancer.
References
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14. Uhrhammer N, Bignon YJ. Report of a family segregating mutations in both the APC and MSH2 genes: juvenile onset of colorectal cancer in a double heterozygote. Int J Colorectal Dis. 2008;23(11):1131-1135. Epub 2008 Jul 1116.
15. Alrawi SJ, Schiff M, Carroll RE, Dayton M, Gibbs JF, Kulavlat M, Tan D, Berman K, Stoler DL, Anderson GR. Aberrant crypt foci. Anticancer Res. 2006;26(1A):107-119.
16. Pećina-Šlaus N, Beroš V, Nikuševa Martić T, Bulić-Jakuš F. Genomic instability of the APC gene found in glioblastoma. In: Glascow EJ, editor. New research in genomic instability: Nova Science Publishers; 2007. p. 121-137.
17. Lynch BM, Baade P, Fritschi L, Leggett B, Owen N, Pakenham K, Newman B, Aitken JF. Modes of presentation and pathways to diagnosis of colorectal cancer in Queensland. Med J Aust. 2007;186(6):288-291.
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20. Peltomaki P. Role of DNA mismatch repair defects in the pathogenesis of human cancer. J Clin Oncol. 2003;21(6):1174-1179.
21. Willett WC, Stampfer MJ, Colditz GA, Rosner BA, Speizer FE. Relation of meat, fat, and fiber intake to the risk of colon cancer in a prospective study among women. N Engl J Med. 1990;323(24):1664-1672.
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23. Kadiian K, Stoinov S, Penchev P, Mikhova A, Damianov D, Aleksandrova A, Nedin D, Vladimirov B, Draganov V, Tankova L, Gerova V, Tsolova N, Churchev I, Nakov N, Tsancheva M. [Polyposis of the colon and cancer]. Khirurgiia (Sofiia). 2004;60(1):42-44.
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25. Hoeijmakers JH. Genome maintenance mechanisms for preventing cancer. Nature. 2001;411(6835):366-374.
26. Loeb LA. Mutator phenotype may be required for multistage carcinogenesis. Cancer Res. 1991;51(12):3075-3079.
27. Jass JR, Whitehall VL, Young J, Leggett BA. Emerging concepts in colorectal neoplasia. Gastroenterology. 2002;123(3):862-876.
28. Grady WM. Genomic instability and colon cancer. Cancer Metastasis Rev. 2004;23(1-2):11-27.
29. Takayama T, Ohi M, Hayashi T, Miyanishi K, Nobuoka A, Nakajima T, Satoh T, Takimoto R, Kato J, Sakamaki S, Niitsu Y. Analysis of K-ras, APC, and beta-catenin in aberrant crypt foci in sporadic. Gastroenterology. 2001;121(3):599-611.
30. Solomon E, Voss R, Hall V, Bodmer WF, Jass JR, Jeffreys AJ, Lucibello FC, Patel I, Rider SH. Chromosome 5 allele loss in human colorectal carcinomas. Nature. 1987;328(6131):616-619.
31. Law DJ, Olschwang S, Monpezat JP, Lefrancois D, Jagelman D, Petrelli NJ, Thomas G, Feinberg AP. Concerted nonsyntenic allelic loss in human colorectal carcinoma. Science. 1988;241(4868):961-965.
32. Knudson AG. Antioncogenes and human cancer. Proc Natl Acad Sci U S A. 1993;90(23):10914-10921.
33. Pecina-Slaus N. [Tumor suppressor genes with special emphasis on the APC tumor suppressor gene]. Lijec Vjesn. 1998;120(7-8):219-227.
34. Cadigan KM, Liu YI. Wnt signaling: complexity at the surface. J Cell Sci. 2006;119(Pt 3):395-402.
35. Kuhnert F, Davis CR, Wang HT, Chu P, Lee M, Yuan J, Nusse R, Kuo CJ. Essential requirement for Wnt signaling in proliferation of adult small intestine. Proc Natl Acad Sci U S A. 2004;101(1):266-271. Epub 2003 Dec 2026.
36. Fodde R, Kuipers J, Rosenberg C, Smits R, Kielman M, Gaspar C, van Es JH, Breukel C, Wiegant J, Giles RH, Clevers H. Mutations in the APC tumour suppressor gene cause chromosomal instability. Nat Cell Biol. 2001;3(4):433-438.
37. Green RA, Wollman R, Kaplan KB. APC and EB1 function together in mitosis to regulate spindle dynamics and. Mol Biol Cell. 2005;16(10):4609-4622. Epub 2005 Jul 4619.
38. Draviam VM, Shapiro I, Aldridge B, Sorger PK. Misorientation and reduced stretching of aligned sister kinetochores promote. Embo J. 2006;25(12):2814-2827. Epub 2006 Jun 2818.
39. Ichii S, Horii A, Nakatsuru S, Furuyama J, Utsunomiya J, Nakamura Y. Inactivation of both APC alleles in an early stage of colon adenomas in a patient. Hum Mol Genet. 1992;1(6):387-390.
40. Levy DB, Smith KJ, Beazer-Barclay Y, Hamilton SR, Vogelstein B, Kinzler KW. Inactivation of both APC alleles in human and mouse tumors. Cancer Res. 1994;54(22):5953-5958.
41. Luongo C, Moser AR, Gledhill S, Dove WF. Loss of Apc+ in intestinal adenomas from Min mice. Cancer Res. 1994;54(22):5947-5952.
42. Leslie A, Carey FA, Pratt NR, Steele RJ. The colorectal adenoma-carcinoma sequence. Br J Surg. 2002;89(7):845-860.
43. Jen J, Powell SM, Papadopoulos N, Smith KJ, Hamilton SR, Vogelstein B, Kinzler KW. Molecular determinants of dysplasia in colorectal lesions. Cancer Res. 1994;54(21):5523-5526.
44. Cheng L, Lai MD. Aberrant crypt foci as microscopic precursors of colorectal cancer. World J Gastroenterol. 2003;9(12):2642-2649.
45. Fearon ER, Vogelstein B. A genetic model for colorectal tumorigenesis. Cell. 1990;61(5):759-767.
46. Vogelstein B, Fearon ER, Hamilton SR, Kern SE, Preisinger AC, Leppert M, Nakamura Y, White R, Smits AM, Bos JL. Genetic alterations during colorectal-tumor development. N Engl J Med. 1988;319(9):525-532.
47. Martin M, Simon-Assmann P, Kedinger M, Mangeat P, Real FX, Fabre M. DCC regulates cell adhesion in human colon cancer derived HT-29 cells and associates with ezrin. Eur J Cell Biol. 2006;85(8):769-783. Epub 2006 Jun 2008.
48. Fearon ER, Cho KR, Nigro JM, Kern SE, Simons JW, Ruppert JM, Hamilton SR, Preisinger AC, Thomas G, Kinzler KW, et al. Identification of a chromosome 18q gene that is altered in colorectal cancers. Science. 1990;247(4938):49-56.
49. Calvert PM, Frucht H. The genetics of colorectal cancer. Ann Intern Med. 2002;137(7):603-612.
50. Fodde R, Smits R, Clevers H. APC, signal transduction and genetic instability in colorectal cancer. Nat Rev Cancer. 2001;1(1):55-67.
51. Nivatvongs S. Benign neoplasms of the colon and rectum. In: Gordon PH, Nivatvongs S, editors. Neoplasms of the colon, rectum and anus. New York, London: Informa Healthcare; 2007.
52. Rustin RB, Jagelman DG, McGannon E, Fazio VW, Lavery IC, Weakley FL. Spontaneous mutation in familial adenomatous polyposis. Dis Colon Rectum. 1990;33(1):52-55.
53. Spirio L, Olschwang S, Groden J, Robertson M, Samowitz W, Joslyn G, Gelbert L, Thliveris A, Carlson M, Otterud B, et al. Alleles of the APC gene: an attenuated form of familial polyposis. Cell. 1993;75(5):951-957.
54. Lynch HT, Smyrk T, McGinn T, Lanspa S, Cavalieri J, Lynch J, Slominski-Castor S, Cayouette MC, Priluck I, Luce MC. Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP. Cancer. 1995;76(12):2427-2433.
55. Hernegger GS, Moore HG, Guillem JG. Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. Dis Colon Rectum. 2002;45(1):127-134; discussion 134-126.
56. Lynch HT, Smyrk T. Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review. Cancer. 1996;78(6):1149-1167.
57. DeFrancisco J, Grady WM. Diagnosis and management of hereditary non-polyposis colon cancer. Gastrointest Endosc. 2003;58(3):390-408.
58. Cunningham C, Dunlop MG. Molecular genetic basis of colorectal cancer susceptibility. Br J Surg. 1996;83(3):321-329.
59. Piepoli A, Santoro R, Cristofaro G, Traversa GP, Gennarelli M, Accadia L, Siena D, Bisceglia M, Lynch HT, Peltomaki P, Andriulli A. Linkage analysis identifies gene carriers among members of families with. Gastroenterology. 1996;110(5):1404-1409.
2. Jemal A, Siegel R, Ward E, Murray T, Xu J, Thun MJ. Cancer statistics, 2007. CA Cancer J Clin. 2007;57(1):43-66.
3. American Cancer Society. Cancer facts and figures 2006. Atlanta, Georgia:2006.
4. Hrvatski zavod za javno zdravstvo. Incidencija raka u Hrvatskoj. Bilten br 30. Zagreb:2005.
5. Benson AB, 3rd. Epidemiology, disease progression, and economic burden of colorectal cancer. J Manag Care Pharm. 2007;13(6 Suppl C):S5-18.
6. Doko M, Zovak M, Ledinsky M, Mijic A, Peric M, Kopljar M, Culinovic R, Rode B, Doko B. Safety of simultaneous resections of colorectal cancer and liver metastases. Coll Antropol. 2000;24(2):381-390.
7. Kopljar M, Brkljacic B, Doko M, Horzic M. Nature of Doppler perfusion index changes in patients with colorectal cancer liver metastases. J Ultrasound Med. 2004;23(10):1295-1300.
8. Penna C, Nordlinger B. Colorectal metastasis (liver and lung). Surg Clin North Am. 2002;82(5):1075-1090, x-xi.
9. Fernandez FG, Drebin JA, Linehan DC, Dehdashti F, Siegel BA, Strasberg SM. Five-year survival after resection of hepatic metastases from colorectal cancer in patients screened by positron emission tomography with F-18 fluorodeoxyglucose (FDG-PET). Ann Surg. 2004;240(3):438-447; discussion 447-450.
10. Pawlik TM, Scoggins CR, Zorzi D, Abdalla EK, Andres A, Eng C, Curley SA, Loyer EM, Muratore A, Mentha G, Capussotti L, Vauthey JN. Effect of surgical margin status on survival and site of recurrence after hepatic resection for colorectal metastases. Ann Surg. 2005;241(5):715-722, discussion 722-714.
11. Adam R, Delvart V, Pascal G, Valeanu A, Castaing D, Azoulay D, Giacchetti S, Paule B, Kunstlinger F, Ghemard O, Levi F, Bismuth H. Rescue surgery for unresectable colorectal liver metastases downstaged by chemotherapy: a model to predict long-term survival. Ann Surg. 2004;240(4):644-657; discussion 657-648.
12. Knudson AG, Jr. Hereditary cancer, oncogenes, and antioncogenes. Cancer Res. 1985;45(4):1437-1443.
13. Fearnhead NS, Britton MP, Bodmer WF. The ABC of APC. Hum Mol Genet. 2001;10(7):721-733.
14. Uhrhammer N, Bignon YJ. Report of a family segregating mutations in both the APC and MSH2 genes: juvenile onset of colorectal cancer in a double heterozygote. Int J Colorectal Dis. 2008;23(11):1131-1135. Epub 2008 Jul 1116.
15. Alrawi SJ, Schiff M, Carroll RE, Dayton M, Gibbs JF, Kulavlat M, Tan D, Berman K, Stoler DL, Anderson GR. Aberrant crypt foci. Anticancer Res. 2006;26(1A):107-119.
16. Pećina-Šlaus N, Beroš V, Nikuševa Martić T, Bulić-Jakuš F. Genomic instability of the APC gene found in glioblastoma. In: Glascow EJ, editor. New research in genomic instability: Nova Science Publishers; 2007. p. 121-137.
17. Lynch BM, Baade P, Fritschi L, Leggett B, Owen N, Pakenham K, Newman B, Aitken JF. Modes of presentation and pathways to diagnosis of colorectal cancer in Queensland. Med J Aust. 2007;186(6):288-291.
18. Foulkes WD, Thiffault I, Gruber SB, Horwitz M, Hamel N, Lee C, Shia J, Markowitz A, Figer A, Friedman E, Farber D, Greenwood CM, Bonner JD, Nafa K, Walsh T, Marcus V, Tomsho L, Gebert J, Macrae FA, Gaff CL, Paillerets BB, Gregersen PK, Weitzel JN, Gordon PH, MacNamara E, King MC, Hampel H, De La Chapelle A, Boyd J, Offit K, Rennert G, Chong G, Ellis NA. The founder mutation MSH2*1906G-->C is an important cause of hereditary. Am J Hum Genet. 2002;71(6):1395-1412. Epub 2002 Nov 1326.
19. Nystrom-Lahti M, Kristo P, Nicolaides NC, Chang SY, Aaltonen LA, Moisio AL, Jarvinen HJ, Mecklin JP, Kinzler KW, Vogelstein B, et al. Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat Med. 1995;1(11):1203-1206.
20. Peltomaki P. Role of DNA mismatch repair defects in the pathogenesis of human cancer. J Clin Oncol. 2003;21(6):1174-1179.
21. Willett WC, Stampfer MJ, Colditz GA, Rosner BA, Speizer FE. Relation of meat, fat, and fiber intake to the risk of colon cancer in a prospective study among women. N Engl J Med. 1990;323(24):1664-1672.
22. Luchtenborg M, Weijenberg MP, de Goeij AF, Wark PA, Brink M, Roemen GM, Lentjes MH, de Bruine AP, Goldbohm RA, van 't Veer P, van den Brandt PA. Meat and fish consumption, APC gene mutations and hMLH1 expression in colon and rectal cancer: a prospective cohort study (The Netherlands). Cancer Causes Control. 2005;16(9):1041-1054.
23. Kadiian K, Stoinov S, Penchev P, Mikhova A, Damianov D, Aleksandrova A, Nedin D, Vladimirov B, Draganov V, Tankova L, Gerova V, Tsolova N, Churchev I, Nakov N, Tsancheva M. [Polyposis of the colon and cancer]. Khirurgiia (Sofiia). 2004;60(1):42-44.
24. Rajagopalan H, Lengauer C. Aneuploidy and cancer. Nature. 2004;432(7015):338-341.
25. Hoeijmakers JH. Genome maintenance mechanisms for preventing cancer. Nature. 2001;411(6835):366-374.
26. Loeb LA. Mutator phenotype may be required for multistage carcinogenesis. Cancer Res. 1991;51(12):3075-3079.
27. Jass JR, Whitehall VL, Young J, Leggett BA. Emerging concepts in colorectal neoplasia. Gastroenterology. 2002;123(3):862-876.
28. Grady WM. Genomic instability and colon cancer. Cancer Metastasis Rev. 2004;23(1-2):11-27.
29. Takayama T, Ohi M, Hayashi T, Miyanishi K, Nobuoka A, Nakajima T, Satoh T, Takimoto R, Kato J, Sakamaki S, Niitsu Y. Analysis of K-ras, APC, and beta-catenin in aberrant crypt foci in sporadic. Gastroenterology. 2001;121(3):599-611.
30. Solomon E, Voss R, Hall V, Bodmer WF, Jass JR, Jeffreys AJ, Lucibello FC, Patel I, Rider SH. Chromosome 5 allele loss in human colorectal carcinomas. Nature. 1987;328(6131):616-619.
31. Law DJ, Olschwang S, Monpezat JP, Lefrancois D, Jagelman D, Petrelli NJ, Thomas G, Feinberg AP. Concerted nonsyntenic allelic loss in human colorectal carcinoma. Science. 1988;241(4868):961-965.
32. Knudson AG. Antioncogenes and human cancer. Proc Natl Acad Sci U S A. 1993;90(23):10914-10921.
33. Pecina-Slaus N. [Tumor suppressor genes with special emphasis on the APC tumor suppressor gene]. Lijec Vjesn. 1998;120(7-8):219-227.
34. Cadigan KM, Liu YI. Wnt signaling: complexity at the surface. J Cell Sci. 2006;119(Pt 3):395-402.
35. Kuhnert F, Davis CR, Wang HT, Chu P, Lee M, Yuan J, Nusse R, Kuo CJ. Essential requirement for Wnt signaling in proliferation of adult small intestine. Proc Natl Acad Sci U S A. 2004;101(1):266-271. Epub 2003 Dec 2026.
36. Fodde R, Kuipers J, Rosenberg C, Smits R, Kielman M, Gaspar C, van Es JH, Breukel C, Wiegant J, Giles RH, Clevers H. Mutations in the APC tumour suppressor gene cause chromosomal instability. Nat Cell Biol. 2001;3(4):433-438.
37. Green RA, Wollman R, Kaplan KB. APC and EB1 function together in mitosis to regulate spindle dynamics and. Mol Biol Cell. 2005;16(10):4609-4622. Epub 2005 Jul 4619.
38. Draviam VM, Shapiro I, Aldridge B, Sorger PK. Misorientation and reduced stretching of aligned sister kinetochores promote. Embo J. 2006;25(12):2814-2827. Epub 2006 Jun 2818.
39. Ichii S, Horii A, Nakatsuru S, Furuyama J, Utsunomiya J, Nakamura Y. Inactivation of both APC alleles in an early stage of colon adenomas in a patient. Hum Mol Genet. 1992;1(6):387-390.
40. Levy DB, Smith KJ, Beazer-Barclay Y, Hamilton SR, Vogelstein B, Kinzler KW. Inactivation of both APC alleles in human and mouse tumors. Cancer Res. 1994;54(22):5953-5958.
41. Luongo C, Moser AR, Gledhill S, Dove WF. Loss of Apc+ in intestinal adenomas from Min mice. Cancer Res. 1994;54(22):5947-5952.
42. Leslie A, Carey FA, Pratt NR, Steele RJ. The colorectal adenoma-carcinoma sequence. Br J Surg. 2002;89(7):845-860.
43. Jen J, Powell SM, Papadopoulos N, Smith KJ, Hamilton SR, Vogelstein B, Kinzler KW. Molecular determinants of dysplasia in colorectal lesions. Cancer Res. 1994;54(21):5523-5526.
44. Cheng L, Lai MD. Aberrant crypt foci as microscopic precursors of colorectal cancer. World J Gastroenterol. 2003;9(12):2642-2649.
45. Fearon ER, Vogelstein B. A genetic model for colorectal tumorigenesis. Cell. 1990;61(5):759-767.
46. Vogelstein B, Fearon ER, Hamilton SR, Kern SE, Preisinger AC, Leppert M, Nakamura Y, White R, Smits AM, Bos JL. Genetic alterations during colorectal-tumor development. N Engl J Med. 1988;319(9):525-532.
47. Martin M, Simon-Assmann P, Kedinger M, Mangeat P, Real FX, Fabre M. DCC regulates cell adhesion in human colon cancer derived HT-29 cells and associates with ezrin. Eur J Cell Biol. 2006;85(8):769-783. Epub 2006 Jun 2008.
48. Fearon ER, Cho KR, Nigro JM, Kern SE, Simons JW, Ruppert JM, Hamilton SR, Preisinger AC, Thomas G, Kinzler KW, et al. Identification of a chromosome 18q gene that is altered in colorectal cancers. Science. 1990;247(4938):49-56.
49. Calvert PM, Frucht H. The genetics of colorectal cancer. Ann Intern Med. 2002;137(7):603-612.
50. Fodde R, Smits R, Clevers H. APC, signal transduction and genetic instability in colorectal cancer. Nat Rev Cancer. 2001;1(1):55-67.
51. Nivatvongs S. Benign neoplasms of the colon and rectum. In: Gordon PH, Nivatvongs S, editors. Neoplasms of the colon, rectum and anus. New York, London: Informa Healthcare; 2007.
52. Rustin RB, Jagelman DG, McGannon E, Fazio VW, Lavery IC, Weakley FL. Spontaneous mutation in familial adenomatous polyposis. Dis Colon Rectum. 1990;33(1):52-55.
53. Spirio L, Olschwang S, Groden J, Robertson M, Samowitz W, Joslyn G, Gelbert L, Thliveris A, Carlson M, Otterud B, et al. Alleles of the APC gene: an attenuated form of familial polyposis. Cell. 1993;75(5):951-957.
54. Lynch HT, Smyrk T, McGinn T, Lanspa S, Cavalieri J, Lynch J, Slominski-Castor S, Cayouette MC, Priluck I, Luce MC. Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP. Cancer. 1995;76(12):2427-2433.
55. Hernegger GS, Moore HG, Guillem JG. Attenuated familial adenomatous polyposis: an evolving and poorly understood entity. Dis Colon Rectum. 2002;45(1):127-134; discussion 134-126.
56. Lynch HT, Smyrk T. Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review. Cancer. 1996;78(6):1149-1167.
57. DeFrancisco J, Grady WM. Diagnosis and management of hereditary non-polyposis colon cancer. Gastrointest Endosc. 2003;58(3):390-408.
58. Cunningham C, Dunlop MG. Molecular genetic basis of colorectal cancer susceptibility. Br J Surg. 1996;83(3):321-329.
59. Piepoli A, Santoro R, Cristofaro G, Traversa GP, Gennarelli M, Accadia L, Siena D, Bisceglia M, Lynch HT, Peltomaki P, Andriulli A. Linkage analysis identifies gene carriers among members of families with. Gastroenterology. 1996;110(5):1404-1409.
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2017-06-30
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Brletić, D. (2017). Biology and genetics of colorectal cancer. BioMedicine and Surgery, 1(2), 77–83. https://doi.org/10.5281/zenodo.846070
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