Critical Reviews in Oncology / Hematology
Volume 79, Issue 1 , Pages 1-16 , July 2011

MUTYH-associated polyposis (MAP)

  • Maartje Nielsen

      Affiliations

    • Department Clinical Genetics, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA Leiden, The Netherlands
    • Corresponding Author InformationCorresponding author. Fax: +31 71 5266749.
    • ,
  • Hans Morreau

      Affiliations

    • Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands
    • ,
  • Hans F.A. Vasen

      Affiliations

    • Dutch Hereditary Cancer Registry and Department of Gastroenterology, Leiden University Medical Center, Leiden, The Netherlands
    • ,
  • Frederik J. Hes

      Affiliations

    • Department Clinical Genetics, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA Leiden, The Netherlands

,Accepted 27 May 2010.

References 

  1. Kinzler KW, Vogelstein B. Lessons from hereditary colorectal cancer. Cell. 1996;87:159–170
  2. Gilbertsen VA. Proctosigmoidoscopy and polypectomy in reducing the incidence of rectal cancer. Cancer. 1973;34(Suppl. 9):
  3. Al Tassan N, Chmiel NH, Maynard J, et al. Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors. Nat Genet. 2002;30:227–232
  4. Jass JR. Colorectal polyposes: from phenotype to diagnosis. Pathol Res Pract. 2008;204:431–447
  5. Nghiem Y, Cabrera M, Cupples CG, Miller JH. The mutY gene: a mutator locus in Escherichia coli that generates G.C–T.A transversions. Proc Natl Acad Sci USA. 1988;85:2709–2713
  6. Yeh YC, Chang DY, Masin J, Lu AL. Two nicking enzyme systems specific for mismatch-containing DNA in nuclear extracts from human cells. J Biol Chem. 1991;266:6480–6484
  7. Shibutani S, Takeshita M, Grollman AP. Insertion of specific bases during DNA synthesis past the oxidation-damaged base 8-oxodG. Nature. 1991;349:431–434
  8. Michaels ML, Miller JH. The GO system protects organisms from the mutagenic effect of the spontaneous lesion 8-hydroxyguanine (7,8-dihydro-8-oxoguanine). J Bacteriol. 1992;174:6321–6325
  9. Boiteux S, Radicella JP. The human OGG1 gene: structure, functions, and its implication in the process of carcinogenesis. Arch Biochem Biophys. 2000;377:1–8
  10. Slupska MM, Luther WM, Chiang JH, Yang H, Miller JH. Functional expression of hMYH, a human homolog of the Escherichia coli MutY protein. J Bacteriol. 1999;181:6210–6213
  11. Guan Y, Manuel RC, Arvai AS, et al. MutY catalytic core, mutant and bound adenine structures define specificity for DNA repair enzyme superfamily. Nat Struct Biol. 1998;5:1058–1064
  12. Fromme JC, Banerjee A, Huang SJ, Verdine GL. Structural basis for removal of adenine mispaired with 8-oxoguanine by MutY adenine DNA glycosylase. Nature. 2004;427:652–656
  13. Noll DM, Gogos A, Granek JA, Clarke ND. The C-terminal domain of the adenine-DNA glycosylase MutY confers specificity for 8-oxoguanine.adenine mispairs and may have evolved from MutT, an 8-oxo-dGTPase. Biochemistry. 1999;38:6374–6379
  14. Chmiel NH, Livingston AL, David SS. Insight into the functional consequences of inherited variants of the hMYH adenine glycosylase associated with colorectal cancer: complementation assays with hMYH variants and pre-steady-state kinetics of the corresponding mutated E. coli enzymes. J Mol Biol. 2003;327:431–443
  15. Volk DE, House PG, Thiviyanathan V, et al. Structural similarities between MutT and the C-terminal domain of MutY. Biochemistry. 2000;39:7331–7336
  16. Parker A, Gu Y, Mahoney W, Lee SH, Singh KK, Lu AL. Human homolog of the MutY repair protein (hMYH) physically interacts with proteins involved in long patch DNA base excision repair. J Biol Chem. 2001;276:5547–5555
  17. Gu Y, Parker A, Wilson TM, Bai H, Chang DY, Lu AL. Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2/human MutS homolog 6. J Biol Chem. 2002;277:11135–11142
  18. Xie Y, Yang H, Miller JH, et al. Cells deficient in oxidative DNA damage repair genes Myh and Ogg1 are sensitive to oxidants with increased G2/M arrest and multinucleation. Carcinogenesis. 2008;29:722–728
  19. Nielsen M, Joerink-van de Beld MC, Jones N, et al. Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. Gastroenterology. 2009;136:471–476
  20. Kim DW, Kim IJ, Kang HC, et al. Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas. Int J Colorectal Dis. 2007;22:1173–1178
  21. Kim H, Kim HJ, Chi SG, et al. Absence of MutY homologue mutation in patients with multiple sporadic adenomatous polyps in Korea. World J Gastroenterol. 2006;12:951–955
  22. Yanaru-Fujisawa R, Matsumoto T, Ushijima Y, et al. Genomic and functional analyses of MUTYH in Japanese patients with adenomatous polyposis. Clin Genet. 2008;73:545–553
  23. Miyaki M, Iijima T, Yamaguchi T, et al. Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas. Mutat Res. 2005;578:430–433
  24. Peterlongo P, Mitra N, Sanchez de AA, et al. Increased frequency of disease-causing MYH mutations in colon cancer families. Carcinogenesis. 2006;27:2243–2249
  25. Nielsen M, Franken PF, Reinards TH, et al. Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). J Med Genet. 2005;42:e54
  26. Gismondi V, Meta M, Bonelli 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;109:680–684
  27. Dolwani S, Williams GT, West KP, et al. Analysis of inherited MYH/(MutYH) mutations in British Asian patients with colorectal cancer. Gut. 2007;56:593
  28. Gomez-Fernandez N, Castellvi-Bel S, Fernandez-Rozadilla C, et al. Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?. BMC Med Genet. 2009;10:57
  29. Kim JC, Ka IH, Lee YM, et al. MYH, OGG1, MTH1, and APC alterations involved in the colorectal tumorigenesis of Korean patients with multiple adenomas. Virchows Arch. 2007;450:311–319
  30. Livingston AL, Kundu S, Henderson PM, Anderson DW, David SS. Insight into the roles of tyrosine 82 and glycine 253 in the Escherichia coli adenine glycosylase MutY. Biochemistry. 2005;44:14179–14190
  31. Wooden SH, Bassett HM, Wood TG, McCullough AK. Identification of critical residues required for the mutation avoidance function of human MutY (hMYH) and implications in colorectal cancer. Cancer Lett. 2004;205:89–95
  32. Pope MA, Chmiel NH, David SS. Insight into the functional consequences of hMYH variants associated with colorectal cancer: distinct differences in the adenine glycosylase activity and the response to AP endonucleases of Y150C and G365D murine MYH. DNA Repair (Amst). 2005;4:315–325
  33. Ali M, Kim H, Cleary S, Cupples C, Gallinger S, Bristow R. Characterization of mutant MUTYH proteins associated with familial colorectal cancer. Gastroenterology. 2008;135:499–507
  34. Parker AR, Sieber OM, Shi C, et al. Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair. Carcinogenesis. 2005;26:2010–2018
  35. Francis AW, David SS. Escherichia coli MutY and Fpg utilize a processive mechanism for target location. Biochemistry. 2003;42:801–810
  36. Tominaga Y, Ushijima Y, Tsuchimoto D, et al. MUTYH prevents OGG1 or APEX1 from inappropriately processing its substrate or reaction product with its C-terminal domain. Nucleic Acids Res. 2004;32:3198–3211
  37. Kundu S, Brinkmeyer MK, Livingston AL, David SS. Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer. DNA Repair (Amst). 2009;8:1400–1410
  38. Molatore S, Russo MT, D’Agostino VG, et al. MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay. Hum Mutat. 2010;31(2):159–166
  39. Bai H, Jones S, Guan X, et al. Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis. Nucleic Acids Res. 2005;33:597–604
  40. Bai H, Grist S, Gardner J, Suthers G, Wilson TM, Lu AL. Functional characterization of human MutY homolog (hMYH) missense mutation (R231L) that is linked with hMYH-associated polyposis. Cancer Lett. 2007;250:74–81
  41. Alhopuro P, Parker AR, Lehtonen R, et al. A novel functionally deficient MYH variant in individuals with colorectal adenomatous polyposis. Hum Mutat. 2005;26:393
  42. Tao H, Shinmura K, Hanaoka T, et al. A novel splice-site variant of the base excision repair gene MYH is associated with production of an aberrant mRNA transcript encoding a truncated MYH protein not localized in the nucleus. Carcinogenesis. 2004;25:1859–1866
  43. Shinmura K, Yamaguchi S, Saitoh T, et al. Adenine excisional repair function of MYH protein on the adenine:8-hydroxyguanine base pair in double-stranded DNA. Nucleic Acids Res. 2000;28:4912–4918
  44. Guillen-Ponce C, Castillejo A, Barbera VM, et al. Biallelic MYH germline mutations as cause of Muir-Torre syndrome. Fam Cancer. 2010;9(2):151–154
  45. Croitoru ME, Cleary SP, Berk T, et al. Germline MYH mutations in a clinic-based series of Canadian multiple colorectal adenoma patients. J Surg Oncol. 2007;95:499–506
  46. Sulova M, Zidkova K, Kleibl Z, et al. Mutation analysis of the MYH gene in unrelated Czech APC mutation-negative polyposis patients. Eur J Cancer. 2007;43:1617–1621
  47. Enholm S, Hienonen T, Suomalainen A, et al. Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients. Am J Pathol. 2003;163:827–832
  48. Croitoru ME, Cleary SP, Di Nicola N, et al. Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. J Natl Cancer Inst. 2004;96:1631–1634
  49. Wang L, Baudhuin LM, Boardman LA, et al. MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology. 2004;127:9–16
  50. Russell AM, Zhang J, Luz J, et al. Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. Int J Cancer. 2006;118:1937–1940
  51. Ponti G, Venesio T, Losi L, et al. BRAF mutations in multiple sebaceous hyperplasias of patients belonging to MYH-associated polyposis pedigrees. J Invest Dermatol. 2007;127:1387–1391
  52. Lejeune S, Guillemot F, Triboulet JP, et al. Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis. Hum Mutat. 2006;27:1064
  53. 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;126:1681–1685
  54. Lefevre JH, Rodrigue CM, Mourra N, et al. Implication of MYH in colorectal polyposis. Ann Surg. 2006;244:874–879
  55. Nielsen M, Hes FJ, Nagengast FM, et al. Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis (AFAP). Clin Genet. 2007;71:427–433
  56. Aretz S, Uhlhaas S, Goergens H, et al. MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J Cancer. 2006;119:807–814
  57. Sampson JR, Dolwani S, Jones S, et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet. 2003;362:39–41
  58. Balaguer F, Castellvi-Bel S, Castells A, et al. Identification of MYH mutation carriers in colorectal cancer: a multicenter, case–control, population-based study. Clin Gastroenterol Hepatol. 2007;5:379–387
  59. Farrington SM, Tenesa A, Barnetson R, et al. Germline susceptibility to colorectal cancer due to base-excision repair gene defects. Am J Hum Genet. 2005;77:112–119
  60. Grunhage F, Jungck M, Lamberti C, et al. Contribution of common monoallelic MUTYH gene variants in German patients with familial colorectal cancer. Cancer Biomark. 2008;4:55–61
  61. Avezzu A, Agostini M, Pucciarelli S, et al. The role of MYH gene in genetic predisposition to colorectal cancer: another piece of the puzzle. Cancer Lett. 2008;268:308–313
  62. Sieber OM, Lipton L, Crabtree M, et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med. 2003;348:791–799
  63. Fleischmann C, Peto J, Cheadle J, Shah B, Sampson J, Houlston RS. Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer. Int J Cancer. 2004;109:554–558
  64. Halford SE, Rowan AJ, Lipton L, et al. Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. Am J Pathol. 2003;162:1545–1548
  65. Kambara T, Whitehall VL, Spring KJ, et al. Role of inherited defects of MYH in the development of sporadic colorectal cancer. Genes Chromosomes Cancer. 2004;40:1–9
  66. Van Puijenbroek M, Nielsen M, Tops CM, 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;14:139–142
  67. Cleary SP, Cotterchio M, Jenkins MA, et al. Germline MutY human homologue mutations and colorectal cancer: a multisite case–control study. Gastroenterology. 2009;136:1251–1260
  68. de Ferro SM, Suspiro A, Fidalgo P, et al. Aggressive phenotype of MYH-associated polyposis with jejunal cancer and intra-abdominal desmoid tumor: report of a case. Dis Colon Rectum. 2009;52:742–745
  69. Jo WS, Bandipalliam P, Shannon KM, et al. Correlation of polyp number and family history of colon cancer with germline MYH mutations. Clin Gastroenterol Hepatol. 2005;3:1022–1028
  70. De Rosa M, Dourisboure RJ, Morelli G, et al. First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations. Hum Mutat. 2004;23:523–524
  71. Peterlongo P, Mitra N, Chuai S, et al. Colorectal cancer risk in individuals with biallelic or monoallelic mutations of MYH. Int J Cancer. 2005;114:505–507
  72. Riegert-Johnson DL, Johnson RA, Rabe KG, et al. The value of MUTYH testing in patients with early onset microsatellite stable colorectal cancer referred for hereditary nonpolyposis colon cancer syndrome testing. Genet Test. 2007;11:361–365
  73. Chow E, Lipton L, Lynch E, et al. Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH. Gastroenterology. 2006;131:30–39
  74. Isidro G, Laranjeira F, Pires A, et al. Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. Hum Mutat. 2004;24:353–354
  75. Colebatch A, Hitchins M, Williams R, Meagher A, Hawkins NJ, Ward RL. The role of MYH and microsatellite instability in the development of sporadic colorectal cancer. Br J Cancer. 2006;95:1239–1243
  76. Zhou XL, Djureinovic T, Werelius B, Lindmark G, Sun XF, Lindblom A. Germline mutations in the MYH gene in Swedish familial and sporadic colorectal cancer. Genet Test. 2005;9:147–151
  77. Stormorken A, Heintz K, Andresen PA, Møller P. MUTYH mutations do not cause HNPCC or late onset familial colorectal cancer. Hered Cancer Clin Pract. 2006;4:90–93
  78. Lubbe SJ, Di Bernardo MC, Chandler IP, Houlston RS. Clinical implications of the colorectal cancer risk associated with MUTYH mutation. J Clin Oncol. 2009;27:3975–3980
  79. Vasen HF, Moslein G, Alonso A, et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut. 2008;57:704–713
  80. Boparai KS, Dekker E, Eeden van S, et al. Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis (Map). Gastroenterology. 2008;135(6):2014–2018
  81. O'Shea AM, Cleary SP, Croitoru MA, et al. Pathological features of colorectal carcinomas in MYH-associated polyposis. Histopathology. 2008;53(2):184–194
  82. Sankila R, Aaltonen LA, Jarvinen HJ, Mecklin JP. Better survival rates in patients with MLH1-associated hereditary colorectal cancer. Gastroenterology. 1996;110:682–687
  83. Stigliano V, Assisi D, Cosimelli M, et al. Survival of hereditary non-polyposis colorectal cancer patients compared with sporadic colorectal cancer patients. J Exp Clin Cancer Res. 2008;27:39
  84. Dierssen JW, de Miranda NF, Ferrone S, et al. HNPCC versus sporadic microsatellite-unstable colon cancers follow different routes toward loss of HLA class I expression. BMC Cancer. 2007;7:33
  85. Kloor M, Becker C, Benner A, et al. Immunoselective pressure and human leukocyte antigen class I antigen machinery defects in microsatellite unstable colorectal cancers. Cancer Res. 2005;65:6418–6424
  86. de Miranda NF, Nielsen M, Pereira D, et al. MUTYH-associated polyposis carcinomas frequently lose HLA class I expression-a common event amongst DNA-repair-deficient colorectal cancers. J Pathol. 2009;219(1):69–76
  87. Jones N, Vogt S, Nielsen M, et al. Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. Gastroenterology. 2009;137:489–494
  88. 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):1711–1715
  89. Nielsen M, Hes FJ, Vasen HF, Van Den Hout WB. Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations. BMC Med Genet. 2007;8:42
  90. Sakamoto K, Tominaga Y, Yamauchi K, et al. MUTYH-null mice are susceptible to spontaneous and oxidative stress induced intestinal tumorigenesis. Cancer Res. 2007;67:6599–6604
  91. Sieber OM, Howarth KM, Thirlwell C, et al. Myh deficiency enhances intestinal tumorigenesis in multiple intestinal neoplasia (ApcMin/+) mice. Cancer Res. 2004;64:8876–8881
  92. Xie Y, Yang H, Cunanan C, et al. Deficiencies in mouse Myh and Ogg1 result in tumor predisposition and G to T mutations in codon 12 of the K-ras oncogene in lung tumors. Cancer Res. 2004;64:3096–3102
  93. Vogt S, Jones N, Christian D, et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology. 2009;137:1976–1985
  94. Buecher B, Baert-Desurmont S, Leborgne J, Humeau B, Olschwang S, Frebourg T. Duodenal adenocarcinoma and Mut Y human homologue-associated polyposis. Eur J Gastroenterol Hepatol. 2008;20:1024–1027
  95. Zhang Y, Liu X, Fan Y, et al. Germline mutations and polymorphic variants in MMR, E-cadherin and MYH genes associated with familial gastric cancer in Jiangsu of China. Int J Cancer. 2006;119:2592–2596
  96. Goto M, Shinmura K, Yamada H, Tsuneyoshi T, Sugimura H. OGG1, MYH and MTH1 gene variants identified in gastric cancer patients exhibiting both 8-hydroxy-2′-deoxyguanosine accumulation and low inflammatory cell infiltration in their gastric mucosa. J Genet. 2008;87:181–186
  97. Tricarico R, Bet P, Ciambotti B, et al. Endometrial cancer and somatic G>T KRAS transversion in patients with constitutional MUTYH biallelic mutations. Cancer Lett. 2009;274:266–270
  98. Barnetson RA, Devlin L, Miller J, et al. Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer. Clin Genet. 2007;72:551–555
  99. Ashton KA, Proietto A, Otton G, Symonds I, Scott RJ. Genetic variants in MUTYH are not associated with endometrial cancer risk. Hered Cancer Clin Pract. 2009;7:3
  100. Le Page F, Randrianarison V, Marot D, et al. BRCA1 and BRCA2 are necessary for the transcription-coupled repair of the oxidative 8-oxoguanine lesion in human cells. Cancer Res. 2000;60:5548–5552
  101. Zhang Y, Newcomb PA, Egan KM, et al. Genetic polymorphisms in base-excision repair pathway genes and risk of breast cancer. Cancer Epidemiol Biomarkers Prev. 2006;15:353–358
  102. Beiner ME, Zhang WW, Zhang S, Gallinger S, Sun P, Narod SA. Mutations of the MYH gene do not substantially contribute to the risk of breast cancer. Breast Cancer Res Treat. 2009;114:575–578
  103. Ponti G, Ponz DL, Maffei S, et al. Attenuated familial adenomatous polyposis and Muir–Torre syndrome linked to compound biallelic constitutional MYH gene mutations. Clin Genet. 2005;68:442–447
  104. Baudhuin LM, Roberts LR, Enders FT, et al. MYH Y165C and G382D mutations in hepatocellular carcinoma and cholangiocarcinoma patients. J Cancer Res Clin Oncol. 2006;132:159–162
  105. Akyerli CB, Ozbek U, Aydin-Sayitoglu M, Sirma S, Ozcelik T. Analysis of MYH Tyr165Cys and Gly382Asp variants in childhood leukemias. J Cancer Res Clin Oncol. 2003;129:604–605
  106. Shin EJ, Chappell E, Pethe V, et al. MYH mutations are rare in prostate cancer. J Cancer Res Clin Oncol. 2007;133:373–378
  107. Agalliu I, Kwon EM, Salinas CA, Koopmeiners JS, Ostrander EA, Stanford JL. Genetic variation in DNA repair genes and prostate cancer risk: results from a population-based study. Cancer Causes Control. 2009;21:289–300
  108. Gorgens H, Muller A, Kruger S, et al. Analysis of the base excision repair genes MTH1, OGG1 and MUTYH in patients with squamous oral carcinomas. Oral Oncol. 2007;43:791–795
  109. Smith LM, Sharif S, Brand R, Fink E, Lamb J, Whitcomb DC. MUTYH exon 7 and 13 mutations associated with colorectal cancer (MAP syndrome) are not commonly associated with sporadic pancreatic cancer. Pancreatology. 2010;9:793–796
  110. Al Tassan N, Eisen T, Maynard J, et al. Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma. Hum Genet. 2004;114:207–210
  111. Miyaishi A, Osawa K, Osawa Y, et al. MUTYH Gln324His gene polymorphism and genetic susceptibility for lung cancer in a Japanese population. J Exp Clin Cancer Res. 2009;28:10
  112. jith Kumar VK, Gold JA, Mallon E, Thomas S, Hodgson SV. Sebaceous adenomas in an MYH associated polyposis patient of Indian (Gujarati) origin. Fam Cancer. 2008;7:187–189
  113. Baglioni S, Melean G, Gensini F, et al. A kindred with MYH-associated polyposis and pilomatricomas. Am J Med Genet A. 2005;134:212–214
  114. Lipton L, Halford SE, Johnson V, et al. Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway. Cancer Res. 2003;63:7595–7599
  115. Nielsen M, de Miranda NF, van PM, et al. Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas. BMC Cancer. 2009;9:184
  116. Andreyev HJ, Norman AR, Cunningham D, et al. Kirsten ras mutations in patients with colorectal cancer: the ‘RASCAL II’ study. Br J Cancer. 2001;85:692–696
  117. Middeldorp A, van PM, Nielsen M, et al. High frequency of copy-neutral LOH in MUTYH-associated polyposis carcinomas. J Pathol. 2008;216:25–31
  118. Cardoso J, Molenaar L, de Menezes RX, et al. Chromosomal instability in MYH- and APC-mutant adenomatous polyps. Cancer Res. 2006;66:2514–2519
  119. Jones AM, Thirlwell C, Howarth KM, et al. Analysis of copy number changes suggests chromosomal instability in a minority of large colorectal adenomas. J Pathol. 2007;213:249–256
  120. Di Gregorio C, Frattini M, Maffei S, et al. Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis. Gastroenterology. 2006;131:439–444
  121. van der Post RS, Kets CM, Ligtenberg MJ, van Krieken JH, Hoogerbrugge N. Immunohistochemistry is not an accurate first step towards the molecular diagnosis of MUTYH-associated polyposis. Virchows Arch. 2009;454:25–29
  122. Johnson V, Lipton LR, Cummings C, et al. Analysis of somatic molecular changes, clinicopathological features, family history, and germline mutations in colorectal cancer families: evidence for efficient diagnosis of HNPCC and for the existence of distinct groups of non-HNPCC families. J Med Genet. 2005;42:756–762
  123. Jones S, Emmerson P, Maynard J, et al. Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations. Hum Mol Genet. 2002;11:2961–2967
  124. Bougatef K, Marrakchi R, Kourda N, et al. Somatic mutation of MutYH in Tunisian patients with sporadic colorectal cancer. J Clin Lab Anal. 2007;21:372–374
  125. Kim CJ, Cho YG, Park CH, et al. Genetic alterations of the MYH gene in gastric cancer. Oncogene. 2004;23:6820–6822
  126. Gushima M, Hirahashi M, Matsumoto T, et al. Altered expression of MUTYH and an increase in 8-hydroxydeoxyguanosine are early events in ulcerative colitis-associated carcinogenesis. J Pathol. 2009;219:77–86
  127. Webb EL, Rudd MF, Houlston RS. Colorectal cancer risk in monoallelic carriers of MYH variants. Am J Hum Genet. 2006;79:768–771
  128. Kury S, Buecher B, Robiou-du-Pont S, et al. The thorough screening of the MUTYH gene in a large French cohort of sporadic colorectal cancers. Genet Test. 2007;11:373–379
  129. Schafmayer C, Buch S, Egberts JH, et al. Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer. Int J Cancer. 2007;121:555–558
  130. Tenesa A, Campbell H, Barnetson R, Porteous M, Dunlop M, Farrington SM. Association of MUTYH and colorectal cancer. Br J Cancer. 2006;95:239–242
  131. Kasahara M, Osawa K, Yoshida K, et al. Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population. J Exp Clin Cancer Res. 2008;27:49
  132. Picelli S, Zajac P, Zhou XL, et al. Common variants in human CRC genes as low-risk alleles. Eur J Cancer. 2010;46(6):1041–1048
  133. Tao H, Shinmura K, Suzuki M, et al. Association between genetic polymorphisms of the base excision repair gene MUTYH and increased colorectal cancer risk in a Japanese population. Cancer Sci. 2008;99:355–360
  134. Jenkins MA, Croitoru ME, Monga N, et al. Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomarkers Prev. 2006;15:312–314
  135. Tenesa A, Farrington SM, Dunlop MG: Re: . Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. J Natl Cancer Inst. 2005;97:320–321
  136. Ashton KA, Meldrum CJ, McPhillips L, Kairupan CF, Scott J. Frequency of the common MYH mutations (G382D and Y165C) in MMR mutation positive and negative HNPCC patients. Hered Cancer Clin Pract. 2005;3:65–70
  137. Gorgens H, Kruger S, Kuhlisch E, et al. Microsatellite stable colorectal cancers in clinically suspected hereditary nonpolyposis colorectal cancer patients without vertical transmission of disease are unlikely to be caused by biallelic germline mutations in MYH. J Mol Diagn. 2006;8:178–182
  138. Eliason K, Hendrickson BC, Judkins T, et al. The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients. J Med Genet. 2005;42:95–96
  139. Kim IJ, Ku JL, Kang HC, et al. Mutational analysis of OGG1, MYH, MTH1 in FAP, HNPCC and sporadic colorectal cancer patients: R154H OGG1 polymorphism is associated with sporadic colorectal cancer patients. Hum Genet. 2004;115:498–503
  140. Mazurek A, Berardini M, Fishel R. Activation of human MutS homologs by 8-oxo-guanine DNA damage. J Biol Chem. 2002;277:8260–8266
  141. Macpherson P, Barone F, Maga G, Mazzei F, Karran P, Bignami M. 8-oxoguanine incorporation into DNA repeats in vitro and mismatch recognition by MutSalpha. Nucleic Acids Res. 2005;33:5094–5105
  142. Zhao J, Winkler ME. Reduction of GC→TA transversion mutation by overexpression of MutS in Escherichia coli K-12. J Bacteriol. 2000;182:5025–5028
  143. Niessen RC, Sijmons RH, Ou J, et al. MUTYH and the mismatch repair system: partners in crime?. Hum Genet. 2006;119:206–211
  144. Giraldez MD, Balaguer F, Caldes T, et al. Association of MUTYH and MSH6 germline mutations in colorectal cancer patients. Fam Cancer. 2009;8:525–531
  145. Steinke V, Rahner N, Morak M, et al. No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. Eur J Hum Genet. 2008;16:587–592
  146. Van Puijenbroek M, Nielsen M, Reinards TH, et al. The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family. Fam Cancer. 2007;6(1):43–51
  147. Kairupan CF, Meldrum CJ, Crooks R, et al. Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations. Int J Cancer. 2005;116:73–77
  148. Matsumoto Y, Zhang QM, Takao M, Yasui A, Yonei S. Escherichia coli Nth and human hNTH1 DNA glycosylases are involved in removal of 8-oxoguanine from 8-oxoguanine/guanine mispairs in DNA. Nucleic Acids Res. 2001;29:1975–1981
  149. Hazra TK, Das A, Das S, Choudhury S, Kow YW, Roy R. Oxidative DNA damage repair in mammalian cells: a new perspective. DNA Repair (Amst). 2007;6:470–480
  150. Dallosso AR, Dolwani S, Jones N, et al. Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. Gut. 2008;57:1252–1255
  151. Broderick P, Bagratuni T, Vijayakrishnan J, Lubbe S, Chandler I, Houlston RS. Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition. BMC Cancer. 2006;6:243
  152. Weiss JM, Goode EL, Ladiges WC, Ulrich CM. Polymorphic variation in hOGG1 and risk of cancer: a review of the functional and epidemiologic literature. Mol Carcinog. 2005;42:127–141

PII: S1040-8428(10)00147-2

doi: 10.1016/j.critrevonc.2010.05.011

Critical Reviews in Oncology / Hematology
Volume 79, Issue 1 , Pages 1-16 , July 2011

Article Tools

* Image Usage & Resolution