Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer

International Journal of Cancer

Volumn 109, Issue 4, 2004, Pages 554-558

  Fleischmann, Christina ^a   Peto, Julian ^a   Cheadle, Jeremy ^b   Shah, Bindiya ^a   Sampson, Julian ^b   Houlston, Richard S ^a  

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^b CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

Colorectal cancer; Mutation; MYH

Indexed keywords

ADULT; ALLELE; ARTICLE; CANCER SUSCEPTIBILITY; COLON POLYP; COLORECTAL CANCER; CONTROLLED STUDY; EXCISION REPAIR; FEMALE; GENE; GENE MUTATION; GENETIC SUSCEPTIBILITY; GERM LINE; HUMAN; MAJOR CLINICAL STUDY; MALE; MYH GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ADENOCARCINOMA; ADULT; AGE OF ONSET; ALLELIC IMBALANCE; CASE-CONTROL STUDIES; COLON; COLORECTAL NEOPLASMS; DNA GLYCOSYLASES; FEMALE; GERM-LINE MUTATION; GREAT BRITAIN; HUMANS; MALE; MIDDLE AGED; RECTUM; VARIATION (GENETICS);

EID: 1542719919     PISSN: 00207136     EISSN: None     Source Type: Journal    
DOI: 10.1002/ijc.20020     Document Type: Article

References (25)

1. Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, Koskenvuo M, Pukkala E, Skytthe A, Hemminki K. Environmental and heritable factors in the causation of cancer-analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med 2000;343:78-85.
2. Johns LE, Houlston RS. A systematic review and meta-analysis of familial colorectal cancer risk. Am J Gastroenterol 2001;96:2992-3003.
3. Burt RW, Bishop DT, Lynch HT, Rozen P, Winawer SJ. Risk and surveillance of individuals with heritable factors for colorectal cancer: WHO Collaborating Centre for the Prevention of Colorectal Cancer. Bull World Health Organ 1990;68:655-65.
4. Bonaiti-Pellie C. Genetic risk factors in colorectal cancer. Eur J Cancer Prev 1999;8:S27-32.
5. Al-Tassan N, Chmiel NH, Maynard J, Fleming N, Livingston AL, Williams GT, Hodges AK, Davies DR, David SS, Sampson JR, Cheadle JP. Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors. Nat Genet 2002;30:227-32.
6. Jones S, Emmerson P, Maynard J, Best JM, Jordan S, Williams GT, Sampson JR, Cheadle JP. Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C→T:A mutations. Hum Mol Genet 2002:11:2961-7.
7. Sampson JR, Dolwani S, Jones S, Eccles D, Ellis A, Evans DG, Frayling I, Jordan S, Maher ER, Mak T, Maynard J, Pigatto F, Shaw J, Cheadle JP. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 2003;362:39-41.
8. Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RKS, Bisgaard, ML Ornfort TF, Aaltonen LA, Hodgson SV, Thomas HJW, Tomlinson IPM. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003;348:791-9.
9. Ames BN, Gold LS. 1991. Endogenous mutagens and the cause of aging and cancer. Mutat Res 250:3-16.
10. Lindahl T. Instability and decay of the primary structure of DNA. Nature 1993;362:709-75.
11. 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.
12. Michaels ML, Miller JH. The GO system protects organisms for the mutagenic effect of the spontaneous lesion 8-hydroxyguanine (7,8-dihydro-8-oxoguanine). J Bacteriol 1992;174:6321-5.
13. Roldan-Arjona T, Wei YF, Carter KC, Klungland A, Anselmino C, Wang RP, Augustus M, Lindahl T. Molecular cloning and functional expression of a human cDNA encoding the antimutator enzyme 8-hydroxyguanine-DNA glycosylase. Proc Natl Acad Sci USA 1997;94:8016-20.
14. Slupska MM, Baikalov C, Luther WM, Chiang JH, Wei YF, 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 1996;178:3885-92.
15. Sakumi K, Furuichi M, Tsuzuki T, Kakuma T, Kawabata S, Maki H, Sekiguchi M. Cloning and expression of cDNA for a human enzyme that hydrolyzes 8-oxo-dGTP, a mutagenic substrate for DNA-synthesis. J Biol Chem 1993;268:23524-30.
16. Ganguly A, Rock MJ, Prockop DJ. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 1993;90:10325-9.
17. Antonarakis SE, the Nomenclature Working Group. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 1998;11:1-3.
18. Breslow NE, Day NE. Statistical methods in cancer research. vols. 1 and 2. Lyon: IARC, 1987.
19. Fleiss JL, Tytun A, Uray HK. A simple approximation for calculating sample sizes for comparing independent proportions. Biometrics 1980;36:343-6.
20. Chmiel NH, Golinelli MP, Francis AW, David SS. Efficient recognition of substrates and substrate analogs by the adenine glycosylase mutY requires the C-terminal domain. Nucl Acids Res 2001;29:553-64.
21. Shinmura K, Yamaguchi S, Saitoh T, Kohno T, Yokota J. Somatic mutations and single nucleotide polymorphisms of base excision repair genes involved in the repair of 8-hydroxyguanine in damaged DNA. Cancer Lett 2001;166:65-9.
22. Enholm S, Hienonen T, Suomalainen A, Lipton L, Tomlinson I, Karja V, Eskelinen M, Mecklin JP, Karhu A, Jarvinen HJ, Aaltonen LA. 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.
23. Halford SER, Rowan AJ, Lipton L, Sieber OM, Pack K, Thomas HJW, Hodgson SV, Bodmer WF, Tomlinson IPM. 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.
24. Sodha N, Bullock S, Taylor R, Mitchell G, Guertl-Lackner B, Bevan S, Williams R, Bishop K, McGuire S, Houlston RS, Eles RA. Further evidence that CHEK2 variants participate in susceptibility to breast cancer. Br J Cancer 2002;87:1445-8.
25. Houlston RS, Peto J. The future of association studies of common cancers. Hum Genet 2003;112:434-5.