Association between genetic polymorphisms of the base excision repair gene MUTYH and increased colorectal cancer risk in a Japanese population

Cancer Science

Volumn 99, Issue 2, 2008, Pages 355-360

  Tao, Hong ^a   Shinmura, Kazuya ^a   Suzuki, Masaya ^a   Kono, Suminori ^b   Mibu, Ryuichi ^b   Tanaka, Masao ^b   Kakeji, Yoshihiro ^b   Maehara, Yoshihiko ^b   Okamura, Takeshi ^c   Ikejiri, Kouji ^d   Futami, Kitaroh ^e   Yasunami, Youichi ^f   Maekawa, Takafumi ^f   Takenaka, Kenji ^g   Ichimiya, Hitoshi ^h   Imaizumi, Nobutoshi ⁱ   Sugimura, Haruhiko ^a  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KYUSHU UNIVERSITY   (Japan)

^c NATIONAL KYUSHU CANCER CENTER   (Japan)

^d NATIONAL HOSPITAL ORGANIZATION KYUSHU MEDICAL CENTER   (Japan)

^e Fukuoka University Chikushi Hospital   (Japan)

^f FUKUOKA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g Division of Surgery   (Japan)

^h HAMANOMACHI HOSPITAL   (Japan)

ⁱ FUKUOKA RED CROSS HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; DNA GLYCOSYLTRANSFERASE; GLYCINE; GUANINE; HISTIDINE; THREONINE; THYMINE;

ADULT; AGED; ARTICLE; ASCENDING COLON; CANCER PATIENT; CANCER RISK; CANCER SUSCEPTIBILITY; COLORECTAL ADENOMA; COLORECTAL CANCER; COLORECTAL CARCINOMA; CONFIDENCE INTERVAL; CONTROLLED STUDY; DESCENDING COLON; DISEASE ASSOCIATION; EXCISION REPAIR; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; HAPLOTYPE; HUMAN; JAPAN; JAPANESE; NUCLEIC ACID BASE SUBSTITUTION; PREDICTION; PRIORITY JOURNAL; RECTUM CANCER; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE;

CASE-CONTROL STUDIES; COLORECTAL NEOPLASMS; DNA GLYCOSYLASES; DNA REPAIR; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; JAPAN; LINKAGE DISEQUILIBRIUM; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 38949214008     PISSN: 13479032     EISSN: 13497006     Source Type: Journal    
DOI: 10.1111/j.1349-7006.2007.00694.x     Document Type: Article

References (44)

1. Shibutani S, Takeshita M, Grollman AP. Insertion of specific bases during DNA synthesis past the oxidation-damaged base 8-oxodG. Nature 1991; 349: 431-4.
2. Cadet J, Berger M, Douki T, Ravanat JL. Oxidative damage to DNA. formation, measurement, and biological significance. Rev Physiol Biochem Pharmacol 1997; 131: 1-87.
3. 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: 6210-13.
4. 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. Nucl Acids Res 2000; 28: 4912-8.
5. Tsuzuki T, Nakatsu Y, Nakabeppu Y. Significance of error-avoiding mechanisms for oxidative DNA damage in carcinogenesis. Cancer Sci 2007; 98: 465-70.
6. Hirano S, Tominaga Y, Ichinoe A et al. Mutator phenotype of MUTYH - null mouse embryonic stem cells. J Biol Chem 2003; 278: 38.121-4.
7. Al-Tassan N, Chmiel NH, Maynard J et al. Inherited variants of MYH associated with somatic G:X→&T:A mutations in colorectal tumors. Nat Genet 2002; 30: 227-32.
8. Jones S, Emmerson P, Maynard J et al. Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G. X→T: A mutations. Hum Mol Genet 2002; 11: 2961-7.
9. 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: 791-9.
10. Sampson JR, Dolwani S, Jones S et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 2003; 362: 39-41.
11. 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: 680-4.
12. 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: 1545-8.
13. 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: 1239-43.
14. 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: 505-7.
15. 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: 1631-4.
16. 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: 112-9.
17. 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: 827-32.
18. Webb EL, Rudd MF, Houlston RS. Colorectal cancer risk in monoallelic carriers of MYH variants. Am J Hum Genet 2006; 79: 768-71.
19. 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: 1859-66.
20. 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: 430-3.
21. 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: 2592-6.
22. 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.
23. Lamlum H, Al Tassan N, Jaeger E et al. Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q. Hum Mol Genet 2000; 9: 2215-21.
24. Meijers-Heijboer H, van den Ouweland A, Klijn J et al. Low-penetrance susceptibility to breast cancer due to CHEK2 (*) 1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 2002; 31: 55-9.
25. Kono S, Toyomura K, Yin G, Nagano J, Mizoue T. A case-control study of colorectal cancer in relation to lifestyle factors and genetic polymorphisms: Design and conduct of the Fukuoka colorectal cancer study. Asian Pac J Cancer Prev 2004; 5: 393-400.
26. Hagiwara T, Kono S, Yin G et al. Genetic polymorphism in cytochrome P450 7A1 and risk of colorectal cancer: The Fukuoka Colorectal Cancer Study. Cancer Res 2005; 65: 2979-82.
27. Kimura Y, Kono S, Toyomura K et al. Meat, fish and fat intake in relation to subsite-specific risk of colorectal cancer: The Fukuoka Colorectal Cancer Study. Cancer Sci 2007; 98: 590-7.
28. Yin G, Kono S, Toyomura K et al. Alcohol dehydrogenase and aldehyde dehydrogenase polymorphisms and colorectal cancer: The Fukuoka Colorectal Cancer Study. Cancer Sci 2007; 98: 1248-53.
29. Benjamini Y, Hochberg Y. Controlling the false discovery rate: A practical and powerful approach to multiple testing. J R Statist Soc Series B 1995; 57: 289-300.
30. Johnson GC, Esposito L, Barratt BJ et al. Haplotype tagging for the identification of common disease genes. Nat Genet 2001; 29: 233-7.
31. Shinmura K, Tao H, Yamada H et al. Splice-site genetic polymorphism of the human kallikrein 12 (KLK12) gene correlates with no substantial expression of KLK12 protein having serine protease activity. Hum Mutat 2004; 24: 273-4.
32. Chen X, Truong TT, Weaver J et al. Intronic alterations in BRCA1 and BRCA2: Effect on mRNA splicing fidelity and expression. Hum Mutat 2006; 27: 427-35.
33. den Hollander AI, Koenekoop RK, Yzer S et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet 2006; 79: 556-61.
34. Wei EK, Giovannucci E, Wu K et al. Comparison of risk factors for colon and rectal cancer. Int J Cancer 2004; 108: 433-42.
35. Cheng X, Chen VW, Steele B et al. Subsite-specific incidence rate and stage of disease in colorectal cancer by race, gender, and age group in the United States, 1992-97. Cancer 2001; 92: 2547-54.
36. Ward R, Meagher A, Tomlinson I et al. Microsatellite instability and the clinicopathological features of sporadic colorectal cancer. Gut 2001; 48: 821-9.
37. Lindblom A. Different mechanisms in the tumorigenesis of proximal and distal colon cancers. Curr Opin Oncol 2001; 13: 63-9.
38. Wakabayashi K, Nagao M, Esumi H, Sugimura T. Food-derived mutagens and carcinogens. Cancer Res 1992; 52: 2092s-8s.
39. Marchand LL. Combined influence of genetic and dietary factors on colorectal cancer incidence in Japanese Americans. J Natl Cancer Inst Monogr 1999, 101-5.
40. Yeh CC, Hsieh LL, Tang R, Chang-Chieh CR, Sung FC. MS-920: DNA repair gene polymorphisms, diet and colorectal cancer risk in Taiwan. Cancer Lett 2005; 224: 279-88.
41. Catto JW, Xinarianos G, Burton JL, Meuth M, Hamdy FC. Differential expression of hMLH1 and hMSH2 is related to bladder cancer grade, stage and prognosis but not microsatellite instability. Int J Cancer 2003; 105: 484-90.
42. Bosken CH, Wei Q, Amos CI, Spitz MR. An analysis of DNA repair as a determinant of survival in patients with non-small-cell lung cancer. J Natl Cancer Inst 2002; 94: 1091-9.
43. Goode EL, Ulrich CM, Potter JD. Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol Biomarkers Prev 2002; 11: 1513-30.
44. Wang Y, Spitz MR, Zhu Y, Dong Q, Shete S, Wu X. From genotype to phenotype: Correlating XRCC1 polymorphisms with mutagen sensitivity. DNA Repair (Amst) 2003; 2: 901-8.