Alterations of the base excision repair gene MUTYH in sporadic colorectal cancer

Oncology Reports

Volumn 28, Issue 2, 2012, Pages 473-480

  Kuno, Takashi ^a   Matsubara, Nagahide ^a   Tsuda, Satoshi ^a   Kobayashi, Masayoshi ^a   Hamanaka, Mie ^a   Yamagishi, Daisuke ^a   Tsukamoto, Kiyoshi ^a   Yamano, Tomoki ^a   Noda, Masafumi ^a   Ikeuchi, Hiroki ^a   Kim, Sanghyuk ^b   Tamura, Kazuo ^b   Tomita, Naohiro ^a  

^a HYOGO COLLEGE OF MEDICINE   (Japan)

^b KINKI UNIVERSITY   (Japan)

Author keywords

Base excision repair gene; Loss of heterozygosity; MUTYH gene; Sporadic colorectal cancer

Indexed keywords

ADULT; AGED; ALLELIC IMBALANCE; ARTICLE; CANCER GROWTH; CANCER LOCALIZATION; CANCER STAGING; COLORECTAL CANCER; CONTROLLED STUDY; DOMINANT GENE; EXCISION REPAIR; EXON; FEMALE; GENE; GENE LOSS; GENE SEQUENCE; HETEROZYGOSITY LOSS; HUMAN; LYMPH NODE METASTASIS; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MUTYH GENE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONCOGENE K RAS; PATHOGENESIS; POLYMORPHIC LOCUS; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; TUMOR DIFFERENTIATION;

ADULT; AGED; COLORECTAL NEOPLASMS; DNA GLYCOSYLASES; DNA REPAIR; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MUTATION;

EID: 84863465107     PISSN: 1021335X     EISSN: 17912431     Source Type: Journal    
DOI: 10.3892/or.2012.1836     Document Type: Article

References (29)

1. Tamura K, Utsunomiya J, Iwama T, et al: Mechanism of carcino-genesis in familial tumors. Int J Clin Oncol 9: 232-245, 2004.
2. Vogelstein B and Kinzler KW: Cancer genes and the pathways they control. Nat Med 10: 789-799, 2004. (Pubitemid 39070849)
3. Hung R, Hung RJ, Hall J, Brennan P and Boffetta P: Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review. Am J Epidemiol 162: 925-942, 2005. (Pubitemid 41619464)
4. Krokan HE, Nilsen H, Skorpen F, Otterlei M and Slupphaug G: Base excision repair of DNA in mammalian cells. FEBS Lett 476: 73-77, 2000. (Pubitemid 30394654)
5. Slupska MM, Baikalov C, Luther WM, Chiang JH, Wei YF and Miller JH: Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage. J Bacteriol 178: 3885-3892, 1996. (Pubitemid 26227206)
6. 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 28: 4912-4918, 2000. (Pubitemid 32014261)
7. 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 30: 227-232, 2002.
8. Sieber OM, Lipton L, Crabtree M, et al: Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 348: 791-799, 2003. (Pubitemid 36245755)
9. 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: 430-433, 2005. (Pubitemid 41395343)
10. 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 11: 2964-2967, 2002.
11. Farrington SM, Tenesa A, Barnetson R, et al: Germline susceptibility to colorectal cancer due to base-excision repair gene defects. Am J Hum Genet 77: 112-119, 2005. (Pubitemid 40848041)
12. Saeki Y, Tamura K, Yamamoto Y, et al: Germline p53 mutation at codon 133 in a cancer-prone family. J Mol Med 75: 50-56, 1997. (Pubitemid 27067139)
13. Jernvall P, Mäkinen MJ, Karttunen TJ, Mäkelä J and Vihko P: Loss of heterozygosity at 18q21 is indicative of recurrence and therefore poor prognosis in a subset of colorectal cancers. Br J Cancer 79: 903-908, 1999. (Pubitemid 29082124)
14. Halford SER, 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 162: 1545-1548, 2003. (Pubitemid 36512837)
15. Kowalski LD, Mutch DG, Herzog TJ, Rader JS and Goodfellow PJ: Mutational analysis of MLH1 and MSH2 in 25 prospectively-acquired RER+ endometrial cancers. Genes Chromosomes Cancer 18: 219-227, 1997. (Pubitemid 27120341)
16. Miki Y, Katagiri T, Kasumi F, Yoshimoto T and Nakamura Y: Mutation analysis in the BRCA2 gene in primary breast cancers. Nat Genet 13: 245-247, 1996. (Pubitemid 26000446)
17. Yanaru-Fujisawa R, Matsumoto T, Ushijima Y, et al: Genomic and functional analyses of MUTYH in Japanese patients with adenomatous polyposis. Clin Genet 73: 545-553, 2008. (Pubitemid 351663935)
18. Vogelstein B, Fearon ER, Kern SE, et al: Allelotype of colorectal carcinomas. Science 244: 207-211, 1989. (Pubitemid 19110299)
19. Couturier-Turpin MH, Esnous C, Louvel A, Poirier Y and Couturier D: Chromosome 1 in human colorectal tumors. Cytogenetic research on structural changes and their significance. Hum Genet 88: 431-438, 1992.
20. Bardi G, Sukhikh T, Pandis N, Fenger C, Kronborg O and HeimS: Karyotypic characterization of colorectal adenocarcinomas. Genes Chromosomes Cancer 12: 97-109, 1995.
21. Praml C, Finke LH, Herfarth C, Schlag P, Schwab M and AmlerL: Deletion mapping defines different regions in 1p34.2-pter that may harbor genetic information related to human colorectal cancer. Oncogene 11: 1357-1362, 1995.
22. Thorstensen L, Qvist H, Heim S, et al: Evaluation of 1p losses in primary carcinomas, local recurrence and peripheral metastases from colorectal cancer patients. Neoplasia 2: 514-522, 2000. (Pubitemid 32098686)
23. Nielsen M, de Miranda NF, van Puijenbroek M, et al: Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas. BMC Cancer 9: 184, 2009.
24. Neumann J, Zeidl-Eberhart E, Kirchnet T and Jung A: Frequency and type of KRAS mutations in routine diagnostic analysis of metastatic colorectal cancer. Pathol Res Pract 205: 858-862, 2009.
25. Deschoolmeester V, Boeckx C, Baay M, et al: KRAS mutation detection and prognostic potential in sporadic colorectal cancer using high-resolution melting analysis. Br J Cancer 103: 1627-1636, 2010.
26. 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 99: 355-360, 2008. (Pubitemid 351228492)
27. Ali M, Kim H, Cleary S, Cupples C, Gallinger S and BristowR: Characterization of mutant MUTYH proteins associated with familial colorectal cancer. Gastroenterology 135: 499-507, 2008.
28. Kambara T, Whitehall VL, Spring KJ, et al: Role of inherited defects of MYH in the development of sporadic colorectal cancer. Genes Chromosomes Cancer 40: 1-9, 2004. (Pubitemid 38524613)
29. Goto M, Shinmura K, Nakabeppu Y, Tao H, Yamada H, Tsuneyoshi T and Sugimura H: Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer. Hum Mutat 31: E1861-E1874, 2010.