Shiraz E-Medical Journal

Published by: Kowsar
Crossmark

Colorectal Carcinomas, a Consideration on MUTYH-Associated Polyposis

Tayebeh Hamzehloei 1 , * and Mahdieh Davoodnejad Dehsorkhi 1
Authors Information
1 Genetics Department, Medical School, Mashhad University of Medical Science, Mashhad, IR Iran
Article information
  • Shiraz E-Medical Journal: July 01, 2014, 15 (3); e21868
  • Published Online: July 20, 2014
  • Article Type: Review Article
  • Received: August 10, 2013
  • Revised: September 10, 2013
  • Accepted: January 20, 2014
  • DOI: 10.17795/semj21868

To Cite: Hamzehloei T, Davoodnejad Dehsorkhi M. Colorectal Carcinomas, a Consideration on MUTYH-Associated Polyposis, Shiraz E-Med J. 2014 ; 15(3):e21868. doi: 10.17795/semj21868.

Abstract
Copyright © 2014, Shiraz University of Medical Sciences. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Introduction
2. MutYH Gene and Protein
3. Identification and Characterization of MAP (MYH-Associated Polyposis)
4. Mutation spectrum
5. MutYH Mutation and CRC Risk
6. Molecular PROFILE of MAP Tumors
7. Genotype - Phenotype Correlation
8. MYH and Sporadic Cancers
9. Extracolonic Manifestations in MAP
10. Discussion
References
  • 1. Croitoru ME, Cleary SP, Berk T, Di Nicola N, Kopolovic I, Bapat B, et al. Germline MYH mutations in a clinic-based series of Canadian multiple colorectal adenoma patients. J Surg Oncol. 2007; 95(6): 499-506[DOI][PubMed]
  • 2. Vandrovcova J, Stekrova J, Kebrdlova V, Kohoutova M. Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations. Hum Mutat. 2004; 23(4): 397[DOI][PubMed]
  • 3. Poulsen ML, Bisgaard ML. MUTYH Associated Polyposis (MAP). Curr Genomics. 2008; 9(6): 420-35[DOI][PubMed]
  • 4. Nielsen M, Morreau H, Vasen HFA, Hes FJ. MUTYH-associated polyposis (MAP). Crit rev oncol hemato. 2011; 79(1): 1-16
  • 5. Heinimann K, Mullhaupt B, Weber W, Attenhofer M, Scott RJ, Fried M, et al. Phenotypic differences in familial adenomatous polyposis based on APC gene mutation status. Gut. 1998; 43(5): 675-9[PubMed]
  • 6. Yamaguchi S, Ogata H, Katsumata D, Nakajima M, Fujii T, Tsutsumi S, et al. MUTYH-associated colorectal cancer and adenomatous polyposis. Surg Today. 2014; 44(4): 593-600[DOI][PubMed]
  • 7. Markowitz S, Wang J, Myeroff L, Parsons R, Sun L, Lutterbaugh J, et al. Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. Science. 1995; 268(5215): 1336-8[PubMed]
  • 8. 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(9): 2447-54[PubMed]
  • 9. Park J, Betel D, Gryfe R, Michalickova K, Di Nicola N, Gallinger S, et al. Mutation profiling of mismatch repair-deficient colorectal cncers using an in silico genome scan to identify coding microsatellites. Cancer Res. 2002; 62(5): 1284-8[PubMed]
  • 10. Gismondi V, Meta M, Bonelli L, Radice P, Sala P, Bertario L, et al. Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas. Int J Cancer. 2004; 109(5): 680-4[DOI][PubMed]
  • 11. Knudsen AL, Bisgaard ML, Bulow S. Attenuated familial adenomatous polyposis (AFAP). A review of the literature. Fam Cancer. 2003; 2(1): 43-55[PubMed]
  • 12. Jasperson KW, Tuohy TM, Neklason DW, Burt RW. Hereditary and familial colon cancer. Gastroenterology. 2010; 138(6): 2044-58[DOI][PubMed]
  • 13. Sampson JR, Jones S, Dolwani S, Cheadle JP. MutYH (MYH) and colorectal cancer. Biochem Soc Trans. 2005; 33: 679-83[DOI][PubMed]
  • 14. Matsumoto T, Lida M, Kobori Y, Mizuno M, Nakamura S, Hizawa K, et al. Genetic predisposition to clinical manifestations in familial adenomatous polyposis with special reference to duodenal lesions. Am J Gastroenterol. 2002; 97(1): 180-5[DOI][PubMed]
  • 15. Jang E, Chung DC. Hereditary colon cancer: lynch syndrome. Gut liver. 2010; 4(2): 151-60
  • 16. Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet. 2009; 76(1): 1-18[DOI][PubMed]
  • 17. Nielsen M, de Miranda NF, van Puijenbroek M, Jordanova ES, Middeldorp A, van Wezel T, et al. Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas. BMC Cancer. 2009; 9: 184[DOI][PubMed]
  • 18. Bougatef K, Marrakchi R, Kourda N, Ben Lahely YB, Jileni SB, El Khil HK, et al. Somatic mutation of MutYH in Tunisian patients with sporadic colorectal cancer. J Clin Lab Anal. 2007; 21(6): 372-4[DOI][PubMed]
  • 19. Isidro G, Laranjeira F, Pires A, Leite J, Regateiro F, Castro e Sousa F, et al. Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. Hum Mutat. 2004; 24(4): 353-4[DOI][PubMed]
  • 20. Nielsen M, Franken PF, Reinards TH, Weiss MM, Wagner A, van der Klift H, et al. Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). J Med Genet. 2005; 42(9)[DOI][PubMed]
  • 21. Goto M, Shinmura K, Nakabeppu Y, Tao H, Yamada H, Tsuneyoshi T, et al. Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. Hum Mutat. 2010; 31(11)-74[DOI][PubMed]
  • 22. Aretz S, Uhlhaas S, Goergens H, Siberg K, Vogel M, Pagenstecher C, et al. MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J Cancer. 2006; 119(4): 807-14[DOI][PubMed]
  • 23. Wang L, Baudhuin LM, Boardman LA, Steenblock KJ, Petersen GM, Halling KC, et al. MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology. 2004; 127(1): 9-16[PubMed]
  • 24. Casper M, Plotz G, Juengling B, Trojan J, Lammert F, Raedle J. Adenoma development in a patient with MUTYH-associated polyposis (MAP): new insights into the natural course of polyp development. Dig Dis Sci. 2010; 55(6): 1711-5[DOI][PubMed]
  • 25. Terdiman JP. MYH-associated disease: attenuated adenomatous polyposis of the colon is only part of the story. Gastroenterology. 2009; 137(6): 1883-6[DOI][PubMed]
  • 26. Nielsen M, Joerink-van de Beld MC, Jones N, Vogt S, Tops CM, Vasen HF, et al. Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. Gastroenterology. 2009; 136(2): 471-6[DOI][PubMed]
  • 27. Out AA, Tops CM, Nielsen M, Weiss MM, van Minderhout IJ, Fokkema IF, et al. Leiden Open Variation Database of the MUTYH gene. Hum Mutat. 2010; 31(11): 1205-15[DOI][PubMed]
  • 28. Morak M, Laner A, Bacher U, Keiling C, Holinski-Feder E. MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations. Clin Genet. 2010; 78(4): 353-63[DOI][PubMed]
  • 29. Lopez-Villar I, Ayala R, Wesselink J, Morillas JD, Lopez E, Marin JC, et al. Simplifying the detection of MUTYH mutations by high resolution melting analysis. BMC Cancer. 2010; 10: 408[DOI][PubMed]
  • 30. Sampson JR, Dolwani S, Jones S, Eccles D, Ellis A, Evans DG, et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet. 2003; 362(9377): 39-41[DOI][PubMed]
  • 31. Venesio T, Molatore S, Cattaneo F, Arrigoni A, Risio M, Ranzani GN. High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis. Gastroenterology. 2004; 126(7): 1681-5[PubMed]
  • 32. Khalaf R, Jones C, Strutt W, Williamson P. Colorectal cancer in a monoallelic MYH mutation carrier. J Gastrointest Surg. 2013; 17(8): 1500-2[DOI][PubMed]
  • 33. Gryfe R. Inherited colorectal cancer syndromes. Clin Colon Rectal Surg. 2009; 22(4): 198-208[DOI][PubMed]
  • 34. Lipton L, Tomlinson I. The multiple colorectal adenoma phenotype and MYH, a base excision repair gene. Clin Gastroenterol Hepatol. 2004; 2(8): 633-8[PubMed]
  • 35. van Puijenbroek M, Nielsen M, Tops CM, Halfwerk H, Vasen HF, Weiss MM, et al. Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G > T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue. Clin Cancer Res. 2008; 14(1): 139-42[DOI][PubMed]
  • 36. Vasen HF, Moslein G, Alonso A, Aretz S, Bernstein I, Bertario L, et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut. 2008; 57(5): 704-13[DOI][PubMed]
  • 37. Nielsen M, Poley JW, Verhoef S, van Puijenbroek M, Weiss MM, Burger GT, et al. Duodenal carcinoma in MUTYH-associated polyposis. J Clin Pathol. 2006; 59(11): 1212-5[DOI][PubMed]
  • 38. Barnetson RA, Devlin L, Miller J, Farrington SM, Slater S, Drake AC, et al. Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer. Clin Genet. 2007; 72(6): 551-5[DOI][PubMed]
Creative Commons License Except where otherwise noted, this work is licensed under Creative Commons Attribution Non Commercial 4.0 International License .

Search Relations:

Author(s):

Article(s):

Create Citiation Alert
via Google Reader

Readers' Comments