Common variants in human CRC genes as low-risk alleles

European Journal of Cancer

Volumn 46, Issue 6, 2010, Pages 1041-1048

  Picelli, Simone ^a   Zajac, Pawel ^b   Zhou, Xiao Lei ^a   Edler, David ^c   Lenander, Claes ^d   Dalén, Johan ^e   Hjern, Fredrik ^a   Lundqvist, Nils ^f   Lindforss, Ulrik ^g   Påhlman, Lars ^h   Smedh, Kennet ⁱ   Törnqvist, Anders ^j   Holm, Jörn ^k   Janson, Martin ^c   Andersson, Magnus ^l   Ekelund, Susanne ^m   Olsson, Louise ⁿ   Lundeberg, Joakim ^b   Lindblom, Annika ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b ROYAL INSTITUTE OF TECHNOLOGY   (Sweden)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^d ERSTA HOSPITAL   (Sweden)

^e ST GÖRAN S HOSPITAL   (Sweden)

^f NORRTÄLJE HOSPITAL   (Sweden)

^g Sodertalje Hospital   (Sweden)

^h UPPSALA UNIVERSITY HOSPITAL   (Sweden)

ⁱ CENTRAL HOSPITAL   (Sweden)

^j CENTRAL HOSPITAL   (Sweden)

^k GÄVLE HOSPITAL   (Sweden)

^l ÖREBRO UNIVERSITY HOSPITAL   (Sweden)

^m STOCKHOLM SÖDER HOSPITAL   (Sweden)

ⁿ Mälarsjukhuset Hospital   (Sweden)

more..

Author keywords

Colorectal cancer; Low penetrance alleles; Mismatch repair genes; Polygenic model; SNPs

Indexed keywords

APC PROTEIN; DNA GLYCOSYLASE MUTY; PROTEIN MLH1; PROTEIN MSH6;

ARTICLE; CANCER RISK; COLORECTAL CANCER; CONTROLLED STUDY; FAMILY HISTORY; GENETIC RISK; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGED; ALLELES; CASE-CONTROL STUDIES; COLORECTAL NEOPLASMS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; PENETRANCE; POLYMORPHISM, GENETIC; RISK FACTORS; SWEDEN; YOUNG ADULT;

EID: 77949487616     PISSN: 09598049     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejca.2010.01.013     Document Type: Article

References (43)

1. Lichtenstein P., Holm N.V., Verkasalo P.K., et al. Environmental and heritable factors in the causation of cancer-analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med 343 (2000) 78-85
2. Heavey P.M., McKenna D., and Rowland I.R. Colorectal cancer and the relationship between genes and the environment. Nutr Cancer 48 (2004) 124-141
3. Baglioni S., and Genuardi M. Simple and complex genetics of colorectal cancer susceptibility. Am J Med Genet C Semin Med Genet 129C (2004) 35-43
4. Groden J., Thliveris A., Samowitz W., et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66 (1991) 589-600
5. Kinzler K.W., Nilbert M.C., Vogelstein B., et al. Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers. Science 251 (1991) 1366-1370
6. Lindblom A., Tannergard P., Werelius B., and Nordenskjold M. Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer. Nat Genet 5 (1993) 279-282
7. Peltomaki P., Aaltonen L.A., Sistonen P., et al. Genetic mapping of a locus predisposing to human colorectal cancer. Science 260 (1993) 810-812
8. Nicolaides N.C., Papadopoulos N., Liu B., et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371 (1994) 75-80
9. Papadopoulos N., Nicolaides N.C., Liu B., et al. Mutations of GTBP in genetically unstable cells. Science 268 (1995) 1915-1917
10. Lynch H.T., and de la Chapelle A. Hereditary colorectal cancer. N Engl J Med 348 (2003) 919-932
11. Sieber O.M., Lipton L., Crabtree M., et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 348 (2003) 791-799
12. Houlston R.S., Webb E., Broderick P., et al. Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet 40 (2008) 1426-1435
13. Broderick P., Carvajal-Carmona L., Pittman A.M., et al. A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nat Genet 39 (2007) 1315-1317
14. Jaeger E., Webb E., Howarth K., et al. Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nat Genet 40 (2008) 26-28
15. Tenesa A., Farrington S.M., Prendergast J.G., et al. Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet 40 (2008) 631-637
16. Tomlinson I.P., Webb E., Carvajal-Carmona L., et al. A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet 40 (2008) 623-630
17. Zanke B.W., Greenwood C.M., Rangrej J., et al. Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. Nat Genet 39 (2007) 989-994
18. Tomlinson I., Webb E., Carvajal-Carmona L., et al. A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat Genet 39 (2007) 984-988
19. Tenesa A., and Dunlop M.G. New insights into the aetiology of colorectal cancer from genome-wide association studies. Nat Rev Genet 10 (2009) 353-358
20. Pritchard J.K., and Cox N.J. The allelic architecture of human disease genes: common disease-common variant or not?. Hum Mol Genet 11 (2002) 2417-2423
21. Gorlov I.P., Gorlova O.Y., Sunyaev S.R., Spitz M.R., and Amos C.I. Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. Am J Hum Genet 82 (2008) 100-112
22. Zhou X.L., Djureinovic T., Werelius B., et al. Germline mutations in the MYH gene in Swedish familial and sporadic colorectal cancer. Genet Test 9 (2005) 147-151
23. Zhou X.L., Eriksson U., Werelius B., et al. Definition of candidate low risk APC alleles in a Swedish population. Int J Cancer 110 (2004) 550-557
24. Liu H.X., Zhou X.L., Liu T., et al. The role of hMLH3 in familial colorectal cancer. Cancer Res 63 (2003) 1894-1899
25. Sasieni P.D. From genotypes to genes: doubling the sample size. Biometrics 53 (1997) 1253-1261
26. Powell S.M., Zilz N., Beazer-Barclay Y., et al. APC mutations occur early during colorectal tumorigenesis. Nature 359 (1992) 235-237
27. Slattery M.L., Samowitz W., Ballard L., et al. A molecular variant of the APC gene at codon 1822: its association with diet, lifestyle, and risk of colon cancer. Cancer Res 61 (2001) 1000-1004
28. Wallis Y.L., Morton D.G., McKeown C.M., and Macdonald F. Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition. J Med Genet 36 (1999) 14-20
29. Cleary S.P., Kim H., Croitoru M.E., et al. Missense polymorphisms in the adenomatous polyposis coli gene and colorectal cancer risk. Dis Colon Rectum 51 (2008) 1467-1473 discussion 1473-1464
30. Chen J., Giovannucci E., Hankinson S.E., et al. A prospective study of methylenetetrahydrofolate reductase and methionine synthase gene polymorphisms, and risk of colorectal adenoma. Carcinogenesis 19 (1998) 2129-2132
31. Ruiz-Ponte C., Vega A., Conde R., Barros F., and Carracedo A. The Asp1822Val variant of the APC gene is a common polymorphism without clinical implications. J Med Genet 38 (2001) E33
32. Theodoratou E., Campbell H., Tenesa A., et al. Modification of the associations between lifestyle, dietary factors and colorectal cancer risk by APC variants. Carcinogenesis 29 (2008) 1774-1780
33. Guerreiro C.S., Cravo M.L., Brito M., et al. The D1822V APC polymorphism interacts with fat, calcium, and fiber intakes in modulating the risk of colorectal cancer in Portuguese persons. Am J Clin Nutr 85 (2007) 1592-1597
34. Menendez M., Gonzalez S., Blanco I., et al. Colorectal cancer risk and the APC D1822V variant. Int J Cancer 112 (2004) 161-163
35. Tranah G.J., Giovannucci E., Ma J., Fuchs C., and Hunter D.J. APC Asp1822Val and Gly2502Ser polymorphisms and risk of colorectal cancer and adenoma. Cancer Epidemiol Biomarkers Prev 14 (2005) 863-870
36. Trojan J., Zeuzem S., Randolph A., et al. Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. Gastroenterology 122 (2002) 211-219
37. Berndt S.I., Platz E.A., Fallin M.D., et al. Mismatch repair polymorphisms and the risk of colorectal cancer. Int J Cancer 120 (2007) 1548-1554
38. Renkonen E., Zhang Y., Lohi H., et al. Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer. J Clin Oncol 21 (2003) 3629-3637
39. Koessler T., Oestergaard M.Z., Song H., et al. Common variants in mismatch repair genes and risk of colorectal cancer. Gut 57 (2008) 1097-1101
40. Liu T., Chen J., Salahshor S., et al. Screening families with endometrial, colorectal cancers for germline mutations. J Med Genet 38 (2001) E29
41. Kolodner R.D., Tytell J.D., Schmeits J.L., et al. Germ-line msh6 mutations in colorectal cancer families. Cancer Res 59 (1999) 5068-5074
42. Campbell P.T., Curtin K., Ulrich C.M., et al. Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors. Gut 58 (2009) 661-667
43. Al-Tassan N., Chmiel N.H., Maynard J., et al. Inherited variants of MYH associated with somatic G:C → T:A mutations in colorectal tumors. Nat Genet 30 (2002) 227-232