MUTYH-associated polyposis-From defect in base excision repair to clinical genetic testing

DNA Repair

Volumn 6, Issue 3, 2007, Pages 274-279

  Cheadle, Jeremy P ^a   Sampson, Julian R ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

Base excision repair; Colorectal cancer; MAP; MUTYH; MUTYH associated polyposis; MYH

Indexed keywords

8 HYDROXYDEOXYGUANOSINE; ADENINE; DNA GLYCOSYLASE MUTY; DNA GLYCOSYLTRANSFERASE;

CLINICAL PRACTICE; COLORECTAL CANCER; DNA DAMAGE; DRUG MECHANISM; EXCISION REPAIR; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC PREDISPOSITION; HUMAN; INHERITANCE; MISSENSE MUTATION; MOLECULAR GENETICS; PHENOTYPE; POLYPOSIS; PRIORITY JOURNAL; REVIEW;

ADENOMA; CARCINOMA; COLORECTAL NEOPLASMS; DNA GLYCOSYLASES; DNA REPAIR; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GERM-LINE MUTATION; HUMANS; INTESTINAL POLYPOSIS; MUTATION, MISSENSE;

EID: 33847333956     PISSN: 15687864     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.dnarep.2006.11.001     Document Type: Review

References (66)

1. Kinzler K.W., and Vogelstein B. Lessons from hereditary colorectal cancer. Cell 87 (1996) 159-170
2. Fearnhead N.S., Britton M.P., and Bodmer W.F. The ABC of APC. Human Mol. Genet. 10 (2001) 721-733
3. Peltomaki P. Deficient DNA mismatch repair: a common etiologic factor for colon cancer. Human Mol. Genet. 10 (2001) 735-740
4. Al-Tassan N., Chmiel N.H., Maynard J., Fleming N., Livingston A.L., Williams G.T., Hodges A.K., Davies D.R., David S.S., Sampson J.R., and Cheadle J.P. Inherited variants of MYH associated with somatic G:C → T:A mutations in colorectal tumors. Nat. Genet. 30 (2002) 227-232
5. Jones S., Emmerson P., Maynard J., Best J.M., Jordan S., Williams G.T., Sampson J.R., and Cheadle J.P. Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C → T:A mutations. Human Mol. Genet. 11 (2002) 2961-2967
6. Cheadle J.P., and Sampson J.R. Exposing the MYtH about base excision repair and human inherited disease. Human Mol. Genet. 12 (2003) R159-R165
7. Sampson J.R., Dolwani S., Jones S., Eccles D., Ellis A., Evans D.G., Frayling I., Jordan S., Maher E.R., Mak T., Maynard J., Pigatto F., Shaw J., and Cheadle J.P. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 362 (2003) 39-41
8. Sieber O.M., Lipton L., Crabtree M., Heinimann K., Fidalgo P., Phillips R.K., Bisgaard M.L., Orntoft T.F., Aaltonen L.A., Hodgson S.V., Thomas H.J., and Tomlinson I.P. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N. Engl. J. Med. 348 (2003) 791-799
9. Isidro G., Laranjeira F., Pires A., Leite J., Regateiro F., Castro e Sousa F., Soares J., Castro C., Giria J., Brito M.J., Medeira A., Teixeira R., Morna H., Gaspar I., Marinho C., Jorge R., Brehm A., Ramos J.S., and Boavida M.G. Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. Human Mutat. 24 (2004) 353-354
10. Venesio T., Molatore S., Cattaneo F., Arrigoni A., Risio M., and Ranzani G.N. High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis. Gastroenterology 126 (2004) 1681-1685
11. Gismondi V., Meta M., Bonelli L., Radice P., Sala P., Bertario L., Viel A., Fornasarig M., Arrigoni A., Gentile M., Ponz de Leon M., Anselmi L., Mareni C., Bruzzi P., and Varesco L. 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 109 (2004) 680-684
12. Eliason K., Hendrickson B.C., Judkins T., Norton M., Leclair B., Lyon E., Ward B., Noll W., and Scholl T. 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. 42 (2005) 95-96
13. Croitoru M.E., Cleary S.P., Di Nicola N., Manno M., Selander T., Aronson M., Redston M., Cotterchio M., Knight J., Gryfe R., and Gallinger S. Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. J. Natl. Cancer Inst. 96 (2004) 1631-1634
14. Farrington S.M., Tenesa A., Barnetson R., Wiltshire A., Prendergast J., Porteous M., Campbell H., and Dunlop M.G. Germline susceptibility to colorectal cancer due to base-excision repair gene defects. Am. J. Human Genet. 77 (2005) 112-119
15. Halford S.E., Rowan A.J., Lipton L., Sieber O.M., Pack K., Thomas H.J., Hodgson S.V., Bodmer W.F., and Tomlinson I.P. Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. Am. J. Pathol. 162 (2003) 1545-1548
16. K. Eliason, T. Judkins, B.C. Hendrickson, E. Lyon, M. Norton, V. Thompson, S. Gresko, B. Leclair, J. Barrus, S. David, A. Livingston, J. Reid, B.E. Ward, W.W. Noll, T. Scholl, Identification of novel mutations in MYH in North American patients demonstrates a requirement for whole-gene mutation screening [abstract 476]. Presented at the annual meeting of The American Society of Human Genetics, October 26-30, 2004, Toronto, Canada. Available from http://www.ashg.org/genetics/ashg/annmeet/2004/menu-annmeet-2004.shtml.
17. Wang L., Baudhuin L.M., Boardman L.A., Steenblock K.J., Petersen G.M., Halling K.C., French A.J., Johnson R.A., Burgart L.J., Rabe K., Lindor N.M., and Thibodeau S.N. MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology 127 (2004) 9-16
18. Fleischmann C., Peto J., Cheadle J., Shah B., Sampson J., and Houlston R.S. Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer. Int. J. Cancer 109 (2004) 554-558
19. Al-Tassan N., Eisen T., Maynard J., Bridle H., Shah B., Fleischmann C., Sampson J.R., Cheadle J.P., and Houlston R.S. Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma. Human Genet. 114 (2004) 207-210
20. Kim C.J., Cho Y.G., Park C.H., Kim S.Y., Nam S.W., Lee S.H., Yoo N.J., Lee J.Y., and Park W.S. Genetic alterations of the MYH gene in gastric cancer. Oncogene 23 (2004) 6820-6822
21. Aceto G., Cristina Curia M., Veschi S., De Lellis L., Mammarella S., Catalano T., Stuppia L., Palka G., Valanzano R., Tonelli F., Casale V., Stigliano V., Cetta F., Battista P., Mariani-Costantini R., and Cama A. Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. Human Mutat. 26 (2005) 394
22. Kairupan C.F., Meldrum C.J., Crooks R., Milward E.A., Spigelman A.D., Burgess B., Groombridge C., Kirk J., Tucker K., Ward R., Williams R., and Scott R.J. Mutation analysis of the MYH gene in an Australian series of colorectal polyposis patients with or without germline APC mutations. Int. J. Cancer 116 (2005) 73-77
23. Zhou X.L., Djureinovic T., Werelius B., Lindmark G., Sun X.F., Lindblom A., and Swedish Low-Risk Colorectal Cancer Group. Germline mutations in the MYH gene in Swedish familial and sporadic colorectal cancer. Genet. Test 9 (2005) 147-151
24. Miyaki M., Iijima T., Yamaguchi T., Hishima T., Tamura K., Utsunomiya J., and Mori T. Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas. Mutat. Res. 578 (2005) 430-433
25. Nielsen M., Franken P.F., Reinards T.H., Weiss M.M., Wagner A., van der Klift H., Kloosterman S., Houwing-Duistermaat J.J., Aalfs C.M., Ausems M.G., Brocker-Vriends A.H., Gomez Garcia E.B., Hoogerbrugge N., Menko F.H., Sijmons R.H., Verhoef S., Kuipers E.J., Morreau H., Breuning M.H., Tops C.M., Wijnen J.T., Vasen H.F., Fodde R., and Hes F.J. Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). J. Med. Genet. 42 (2005) e54
26. Alhopuro P., Parker A.R., Lehtonen R., Enholm S., Jarvinen H.J., Mecklin J.P., Karhu A., Eshleman J.R., and Aaltonen L.A. A novel functionally deficient MYH variant in individuals with colorectal adenomatous polyposis. Human Mutat. 26 (2005) 393
27. Ponti G., Ponz de Leon M., Maffei S., Pedroni M., Losi L., Di Gregorio C., Gismondi V., Scarselli A., Benatti P., Roncari B., Seidenari S., Pellacani G., Varotti C., Prete E., Varesco L., and Roncucci L. Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. Clin. Genet. 68 (2005) 442-447
28. Kanter-Smoler G., Bjork J., Fritzell K., Engwall Y., Hallberg B., Karlsson G., Gronberg H., Karlsson P., Wallgren A., Wahlstrom J., Hultcrantz R., and Nordling M. Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization. Clin. Gastroenterol. Hepatol. 4 (2006) 499-506
29. Aretz S., Uhlhaas S., Goergens H., Siberg K., Vogel M., Pagenstecher C., Mangold E., Caspari R., Propping P., and Friedl W. MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int. J. Cancer 119 (2006) 807-814
30. Russell A.M., Zhang J., Luz J., Hutter P., Chappuis P.O., Berthod C.R., Maillet P., Mueller H., and Heinimann K. Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. Int. J. Cancer 118 (2006) 1937-1940
31. Niessen R.C., Sijmons R.H., Ou J., Olthof S.G., Osinga J., Ligtenberg M.J., Hogervorst F.B., Weiss M.M., Tops C.M., Hes F.J., de Bock G.H., Buys C.H., Kleibeuker J.H., and Hofstra R.M. MUTYH and the mismatch repair system: partners in crime?. Human Genet. 119 (2006) 206-211
32. Gorgens H., Kruger S., Kuhlisch E., Pagenstecher C., Hohl R., Schackert H.K., and Muller A. 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. 8 (2006) 178-182
33. Lejeune S., Guillemot F., Triboulet J.P., Cattan S., Mouton C., PAFNORD Group, Porchet N., Manouvrier S., and Buisine M.P. Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis. Human Mutat. 27 (2006) 1064
34. Zhang Y., Liu X., Fan Y., Ding J., Xu A., Zhou X., Hu X., Zhu M., Zhang X., Li S., Wu J., Cao H., Li J., and Wang Y. Germline mutations and polymorphic variants in MMR, E-cadherin and MYH genes associated with familial gastric cancer in Jiangsu of China. Int. J. Cancer 119 (2006) 2592-2596
35. Sampson J.R., Jones S., Dolwani S., and Cheadle J.P. MutYH (MYH) and colorectal cancer. Biochem. Soc. Trans. 33 (2005) 679-683
36. Ames B.N., and Gold L.S. Endogenous mutagens and the causes of aging and cancer. Mutat. Res. 250 (1991) 3-16
37. Parker A., Gu Y., Mahoney W., Lee S.-H., Singh K.K., and Lu A.-L. Human homolog of the MutY repair protein (hMYH) physically interacts with proteins involved in long-patch DNA base excision repair. J. Biol. Chem. 276 (2001) 5547-5555
38. Boldogh I., Milligan D., Soog Lee M., Bassett H., Lloyd R.S., and McCullough A.K. hMYH cell cycle-dependent expression, subcellular localization and association with replication foci: evidence suggesting replication-coupled repair of adenine:8-oxoguanine mispairs. Nucl. Acids Res. 29 (2001) 2802-2809
39. Gu Y., Parker A., Wilson T.M., Bai H., Chang D.Y., and Lu A.L. 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. 277 (2002) 11135-11142
40. Clark A.B., Valle F., Drotschmann K., Gary R.K., and Kunkel T.A. Functional interaction of proliferating cell nuclear antigen with MSH2-MSH6 and MSH2-MSH3 complexes. J. Biol. Chem. 275 (2000) 36498-36501
41. Flores-Rozas H., Clark D., and Kolodner R.D. Proliferating cell nuclear antigen and Msh2p-Msh6p interact to form an active mispair recognition complex. Nat. Genet. 26 (2000) 375-378
42. Kleczkowska H.E., Marra G., Lettieri T., and Jiricny J. hMSH3 and hMSH6 interact with PCNA and colocalize with it to replication foci. Genes Dev. 15 (2001) 724-736
43. Manuel R.C., and Lloyd R.S. Cloning, overexpression, and biochemical characterization of the catalytic domain of MutY. Biochemistry 36 (1997) 11140-11152
44. Guan Y., Manuel R.C., Arvai A.S., Parikh S.S., Mol C.D., Miller J.H., Lloyd S., and Tainer J.A. MutY catalytic core, mutant and bound adenine structures define specificity for DNA repair enzyme superfamily. Nat. Struct. Biol. 5 (1998) 1058-1064
45. Noll D.M., Gogos A., Granek J.A., and Clarke N.D. The C-terminal domain of the adenine-DNA glycosylase MutY confers specificity of 8-oxoguanine-adenine mispairs and may have evolved from MutT, an 8-oxo-dGTPase. Biochemistry 38 (1999) 6374-6379
46. Nakabeppu Y. Molecular genetics and structural biology of human MutT homolog MTH1. Mutat. Res. 477 (2001) 59-70
47. Volk D.E., House P.G., Thiviyanathan V., Luxon B.A., Zhang S., Lloyd R.S., and Gorenstein D.G. Structural similarities between MutT and the C-terminal domain of MutY. Biochemistry 39 (2000) 7331-7336
48. Chmiel N.H., Golinelli M.-P., Francis A.W., and David S.S. Efficient recognition of substrates and substrate analogs by the adenine glycosylase MutY requires the C-terminal domain. Nucl. Acids Res. 29 (2001) 553-564
49. Cheng X., and Blumenthal R.M. Finding a basis for flipping bases. Structure 4 (1996) 639-645
50. Roberts R.J., and Cheng X. Base flipping. Annu. Rev. Biochem. 67 (1998) 181-198
51. Hornby D.P., and Ford G.C. Protein-mediated base flipping. Curr. Opin. Biotechnol. 9 (1998) 354-358
52. Lau A.Y., Scharer O.D., Samson L., Verdine G.L., and Ellenberger T. Crystal structure of a human alkylbase-DNA repair enzyme complexed to DNA: mechanisms for nucleotide flipping and base excision. Cell 95 (1998) 249-258
53. Morikawa K., and Shirakawa M. Three-dimensional structural views of damaged-DNA recognition: T4 endonuclease V, E. coli Vsr protein, and human nucleotide excision repair factor XPA. Mutat. Res. 460 (2000) 257-275
54. O'Gara M., Horton J.R., Roberts R.J., and Cheng X. Structures of HhaI methyltransferase complexed with substrates containing mismatches at the target base. Nat. Struct. Biol. 5 (1998) 872-877
55. Parikh S.S., Mol C.D., Slupphaug G., Bharati S., Krokan H.E., and Tainer J.A. Base excision repair initiation revealed by crystal structures and binding kinetics of human uracil-DNA glycosylase with DNA. EMBO J. 17 (1998) 5214-5226
56. Hosfield D.J., Guan Y., Haas B.J., Cunningham R.P., and Tainer J.A. Structure of the DNA repair enzyme endonuclease IV and its DNA complex: double-nucleotide flipping at a basic sites and three-metal-ion catalysis. Cell 98 (1999) 397-408
57. Slupphaug G., Mol C.D., Kavli B., Arvai A.S., Krokan H.E., and Tainer J.A. A nucleotide-flipping mechanism from the structure of human uracil-DNA glycosylase bound to DNA. Nature 384 (1996) 87-92
58. Fromme J.C., Banerjee A., Huang S.J., and Verdine G.L. Structural basis for removal of adenine mispaired with 8-oxoguanine by MutY adenine DNA glycosylase. Nature 427 (2004) 652-656
59. Lu A.L. Repair of A/G and A/8-oxoG mismatches by MutY adenine DNA glycosylase. Methods Mol. Biol. 152 (2000) 3-16
60. Porello S.L., Leyes A.E., and David S.S. Single-turnover and pre-steady-state kinetics of the reaction of the adenine glycosylase MutY with mismatch-containing DNA substrates. Biochemistry 37 (1998) 14756-14764
61. Chmiel N.H., Livingston A.L., and David S.S. 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. 327 (2003) 431-443
62. Hirano S., Tominaga Y., Ichinoe A., Ushijima Y., Tsuchimoto D., Honda-Ohnishi Y., Ohtsubo T., Sakumi K., and Nakabeppu Y. Mutator phenotype of MUTYH-null mouse embryonic stem cells. J. Biol. Chem. 278 (2003) 38121-38124
63. Bai H., Jones S., Guan X., Wilson T.M., Sampson J.R., Cheadle J.P., and Lu A.L. 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. Nucl. Acids Res. 33 (2005) 597-604
64. Kambara T., Whitehall V.L., Spring K.J., Barker M.A., Arnold S., Wynter C.V., Matsubara N., Tanaka N., Young J.P., Leggett B.A., and Jass J.R. Role of inherited defects of MYH in the development of sporadic colorectal cancer. Genes Chromos. Cancer 40 (2004) 1-9
65. Webb E.L., Rudd M.F., and Houlston R.S. Colorectal cancer risk in monoallelic carriers of MYH variants. Am. J. Human Genet. 79 (2006) 768-771
66. Tenesa A., Campbell H., Barnetson R., Porteous M., Dunlop M., and Farrington S.M. Association of MUTYH and colorectal cancer. Br. J. Cancer 95 (2006) 239-242