Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk

European Journal of Human Genetics

Volumn 24, Issue 1, 2016, Pages 99-105

  Baert Desurmont, Stéphanie ^a,b,c   Charbonnier, Françoise ^a,b,c   Houivet, Estelle ^a,b   Ippolito, Lorena ^a,c   Mauillon, Jacques ^b   Bougeard, Marion ^a   Abadie, Caroline ^a,d   Malka, David ^e   Duffour, Jacqueline ^f   Desseigne, Françoise ^g   Colas, Chrystelle ^h   Pujol, Pascal ⁱ   Lejeune, Sophie ^j   Dugast, Catherine ^d   Buecher, Bruno ^k   Faivre, Laurence ^l   Leroux, Dominique ^m   Gesta, Paul ⁿ   Coupier, Isabelle ⁱ   Guimbaud, Rosine ^o   Berthet, Pascaline ^p   Manouvrier, Sylvie ^j   Cauchin, Estelle ^q   Prieur, Fabienne ^r   Laurent Puig, Pierre ^s   Lebrun, Marine ^r   Jonveaux, Philippe ^t   Chiesa, Jean ^u   Caron, Olivier ^e   Morin Meschin, Marie Emmanuelle ^v   Polycarpe Osaer, Florence ^p   Giraud, Sophie ^w   Zaanan, Aziz ^s   Bonnet, Delphine ^x   Mansuy, Ludovic ^t   Bonadona, Valérie ^g   El Chehadeh, Salima ^l   Duhoux, François ^y   Gauthier Villars, Marion ^k   Saurin, Jea Christophe ^w   Collonge Rame, Marie Agnès ^z   Brugières, Laurence ^e   Wang, Qing ^g   Bressac de Paillerets, Brigitte ^e   Rey, Jean Marc ⁱ   Toulas, Christine ^o   Buisine, Marie Pierre ^j   Bronner, Myriam ^t   Sokolowska, Joanna ^t   Hardouin, Agnès ^p   Cailleux, Anne Françoise ^b   Sebaoui, Hakim ^b   Blot, Julien ^b   Tinat, Julie ^a,b,c   Benichou, Jacques ^a   Frebourg, Thierry ^a,b,c   more..

^a UNIVERSITY OF ROUEN   (France)

^b ROUEN UNIVERSITY HOSPITAL   (France)

^c Cancéropôle Nord Ouest   (France)

^d Eugene Marquis Comprehensive Cancer Center   (France)

^e INSTITUT GUSTAVE ROUSSY   (France)

^f CENTRE VAL D AURELLE   (France)

^g CENTRE LÉON BÉRARD   (France)

^h HÔPITAL SAINT ANTOINE   (France)

ⁱ MONTPELLIER UNIVERSITY HOSPITAL   (France)

^j LILLE UNIVERSITY HOSPITAL   (France)

^k INSTITUT CURIE   (France)

^l CENTRE GEORGES FRANÇOIS LECLERC   (France)

^m GRENOBLE UNIVERSITY HOSPITAL   (France)

ⁿ Hospital Center   (France)

^o INSTITUT CLAUDIUS REGAUD   (France)

^p Calvados Cancer General Registry   (France)

^q NANTES UNIVERSITY HOSPITAL   (France)

^r UNIVERSITY HOSPITAL OF SAINT ETIENNE   (France)

^s HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^t UNIVERSITY HOSPITAL OF NANCY   (France)

^u NÎMES UNIVERSITY HOSPITAL   (France)

^v ANGERS UNIVERSITY HOSPITAL   (France)

^w EDOUARD HERRIOT HOSPITAL   (France)

^x TOULOUSE UNIVERSITY HOSPITAL   (France)

^y CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^z UNIVERSITY HOSPITAL OF BESANÇON   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELISM; ARTICLE; CANCER RISK; CHROMOSOMAL LOCALIZATION; CHROMOSOME 15Q; CHROMOSOME 18Q; CHROMOSOME 8Q; COLORECTAL CANCER; CONTROLLED STUDY; FEMALE; GENETIC RISK; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; ALLELE; CASE CONTROL STUDY; CHROMOSOME 15; CHROMOSOME 18; CHROMOSOME 8; COLORECTAL NEOPLASMS; GENE FREQUENCY; GENE LOCUS; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; GENOTYPING TECHNIQUE; MIDDLE AGED; ODDS RATIO; PATHOLOGY; PROSPECTIVE STUDY; RISK FACTOR;

ADULT; ALLELES; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 8; COLORECTAL NEOPLASMS; FEMALE; GENE FREQUENCY; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPING TECHNIQUES; HUMANS; MALE; MIDDLE AGED; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; PROSPECTIVE STUDIES; RISK FACTORS;

EID: 84951574013     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.72     Document Type: Article

References (22)

1. Patel SG, Ahnen DJ. Familial colon cancer syndromes: an update of a rapidly evolving field. Curr Gastroenterol Rep 2012; 14: 428-438
2. Broderick P, Carvajal-Carmona L, Pittman AM et al. A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. Nat Genet 2007; 39: 1315-1317
3. 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 2007; 39: 984-988
4. 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 2008; 40: 26-28
5. Tomlinson IP, 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 2008; 40: 623-630
6. Tenesa A, Farrington SM, Prendergast JG et al. Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet 2008; 40: 631-637
7. Houlston RS, Webb E, Broderick P et al. Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet 2008; 40: 1426-1435
8. Middeldorp A, Jagmohan-Changur S, Van Eijk R et al. Enrichment of low penetrance susceptibility loci in a Dutch familial colorectal cancer cohort. Cancer Epidemiol Biomarkers Prev 2009; 18: 3062-3067
9. Houlston RS, Cheadle J, Dobbins SE et al. Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. Nat Genet 2010; 42: 973-977
10. Tomlinson IP, Carvajal-Carmona LG, Dobbins SE et al. Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer. PLoS Genet 2011; 7: e1002105
11. Song Q, Zhu B, Hu W et al. A common SMAD7 variant is associated with risk of colorectal cancer: evidence from a case-control study and a meta-analysis. PLoS One 2012; 7: e33318
12. Whiffin N, Dobbins SE, Hosking FJ et al. Deciphering the genetic architecture of low-penetrance susceptibility to colorectal cancer. Hum Mol Genet 2013; 22: 5075-5082
13. Pittman AM, Naranjo S, Jalava SE et al. Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H. PLoS Genet 2010; 6: e1001126
14. Berndt SI, Potter JD, Hazra A et al. Pooled analysis of genetic variation at chromosome 8q24 and colorectal neoplasia risk. Hum Mol Genet 2008; 17: 2665-2672
15. Curtin K, Lin WY, George R et al. Colorectal Cancer Study Group: Meta association of colorectal cancer confirms risk alleles at 8q24 and 18q21. Cancer Epidemiol Biomarkers Prev 2009; 18: 616-621
16. Tuupanen S, Turunen M, Lehtonen R et al. The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling. Nat Genet 2009; 41: 885-890
17. Jaeger E, Leedham S, Lewis A et al. Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. Nat Genet 2012; 44: 699-703
18. Pittman AM, Naranjo S, Webb E et al. The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression. Genome Res 2009; 19: 987-993
19. Qin Q, Liu L, Zhong R et al. The genetic variant on chromosome 10p14 is associated with risk of colorectal cancer: results from a case-control study and a meta-analysis. PLoS One 2013; 22: e64310
20. Hes FJ, Ruano D, Nieuwenhuis M et al. Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis. J Med Genet 2014; 51: 55-60
21. Dunlop MG, Tenesa A, Farrington SM et al. Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42, 103 individuals. Gut 2013; 62: 871-881
22. Butterworth AS, Higgins JP, Pharoah P. Relative and absolute risk of colorectal cancer for individuals with a family history: a meta-analysis. Eur J Cancer 2006; 42: 216-227