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

Autor: Baert-Desurmont S; Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France.; Department of Genetics, University Hospital, Rouen, France.; Cancéropôle Nord-Ouest, France., Charbonnier F; Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France.; Department of Genetics, University Hospital, Rouen, France.; Cancéropôle Nord-Ouest, France., Houivet E; Department of Biostatistics, University Hospital and Inserm U657, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France.; Centre d'Investigation Clinique, University Hospital, Rouen, France., Ippolito L; Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France.; Cancéropôle Nord-Ouest, France., Mauillon J; Department of Genetics, University Hospital, Rouen, France., Bougeard M; Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France., Abadie C; Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France.; Department of Genetics, Comprehensive Cancer Center Eugène Marquis, Rennes, France., Malka D; Department of Genetics, Institut Gustave Roussy, Villejuif, France., Duffour J; Department of Genetics, Comprehensive Cancer Center Val d'Aurelle, Montpellier, France., Desseigne F; Department of Genetics, Comprehensive Cancer Center Léon Bérard, Lyon, France., Colas C; Department of Genetics, AP-HP, Hôpital Saint Antoine, Paris, France., Pujol P; Department of Genetics, University Hospital, Montpellier, France., Lejeune S; Department of Genetics, University Hospital, Lille, France., Dugast C; Department of Genetics, Comprehensive Cancer Center Eugène Marquis, Rennes, France., Buecher B; Department of Genetics, Institut Curie, Paris, France., Faivre L; Department of Genetics, University Hospital and Comprehensive Cancer Center Georges-François Leclerc, Dijon, France., Leroux D; Department of Genetics, University Hospital, Grenoble, France., Gesta P; Department of Genetics, Hospital, Niort, France., Coupier I; Department of Genetics, University Hospital, Montpellier, France., Guimbaud R; Department of Genetics, Comprehensive Cancer Center Claudius Regaud, Toulouse, France., Berthet P; Department of Genetics, Comprehensive Cancer Center François Baclesse, Caen, France., Manouvrier S; Department of Genetics, University Hospital, Lille, France., Cauchin E; Department of Genetics, University Hospital, Nantes, France., Prieur F; Department of Genetics, University Hospital, Saint Etienne, France., Laurent-Puig P; Department of Genetics, Hôpital Européen Georges Pompidou, Paris, France., Lebrun M; Department of Genetics, University Hospital, Saint Etienne, France., Jonveaux P; Department of Genetics, University Hospital, Nancy, France., Chiesa J; Department of Genetics, University Hospital, Nîmes, France., Caron O; Department of Genetics, Institut Gustave Roussy, Villejuif, France., Morin-Meschin ME; Department of Genetics, University Hospital, Angers, France., Polycarpe-Osaer F; Department of Genetics, Comprehensive Cancer Center François Baclesse, Caen, France., Giraud S; Department of Genetics, University Hospital Edouard Herriot, Lyon, France., Zaanan A; Department of Genetics, Hôpital Européen Georges Pompidou, Paris, France., Bonnet D; Department of Genetics, University Hospital, Toulouse, France., Mansuy L; Department of Genetics, University Hospital, Nancy, France., Bonadona V; Department of Genetics, Comprehensive Cancer Center Léon Bérard, Lyon, France., El Chehadeh S; Department of Genetics, University Hospital and Comprehensive Cancer Center Georges-François Leclerc, Dijon, France., Duhoux F; Department of Genetics, Cancer Centre, Cliniques Universitaires St Luc, Bruxelles, Belgium., Gauthier-Villars M; Department of Genetics, Institut Curie, Paris, France., Saurin JC; Department of Gastroenterology, University Hospital Edouard Herriot, Lyon, France., Collonge-Rame MA; Department of Genetics, University Hospital, Besançon, France., Brugières L; Department of Genetics, Institut Gustave Roussy, Villejuif, France., Wang Q; Department of Genetics, Comprehensive Cancer Center Léon Bérard, Lyon, France., Bressac-de Paillerets B; Department of Genetics, Institut Gustave Roussy, Villejuif, France., Rey JM; Department of Genetics, University Hospital, Montpellier, France., Toulas C; Department of Genetics, Comprehensive Cancer Center Claudius Regaud, Toulouse, France., Buisine MP; Molecular of Genetics, University Hospital, Lille, France., Bronner M; Department of Genetics, University Hospital, Nancy, France., Sokolowska J; Department of Genetics, University Hospital, Nancy, France., Hardouin A; Department of Genetics, Comprehensive Cancer Center François Baclesse, Caen, France., Cailleux AF; Centre d'Investigation Clinique, University Hospital, Rouen, France., Sebaoui H; Department of Clinical Research, University Hospital, Rouen, France., Blot J; Department of Clinical Research, University Hospital, Rouen, France., Tinat J; Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France.; Department of Genetics, University Hospital, Rouen, France.; Cancéropôle Nord-Ouest, France., Benichou J; Department of Biostatistics, University Hospital and Inserm U657, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France., Frebourg T; Inserm U1079, University of Rouen, Institute for Research and Innovation in Biomedicine, Rouen, France.; Department of Genetics, University Hospital, Rouen, France.; Cancéropôle Nord-Ouest, France.
Jazyk: angličtina
Zdroj: European journal of human genetics : EJHG [Eur J Hum Genet] 2016 Jan; Vol. 24 (1), pp. 99-105. Date of Electronic Publication: 2015 Apr 15.
DOI: 10.1038/ejhg.2015.72
Abstrakt: To determine if the at-risk single-nucleotide polymorphism (SNP) alleles for colorectal cancer (CRC) could contribute to clinical situations suggestive of an increased genetic risk for CRC, we performed a prospective national case-control study based on highly selected patients (CRC in two first-degree relatives, one before 61 years of age; or CRC diagnosed before 51 years of age; or multiple primary CRCs, the first before 61 years of age; exclusion of Lynch syndrome and polyposes) and controls without personal or familial history of CRC. SNPs were genotyped using SNaPshot, and statistical analyses were performed using Pearson's χ(2) test, Cochran-Armitage test of trend and logistic regression. We included 1029 patients and 350 controls. We confirmed the association of CRC risk with four SNPs, with odds ratio (OR) higher than previously reported: rs16892766 on 8q23.3 (OR: 1.88, 95% confidence interval (CI): 1.30-2.72; P=0.0007); rs4779584 on 15q13.3 (OR: 1.42, CI: 1.11-1.83; P=0.0061) and rs4939827 and rs58920878/Novel 1 on 18q21.1 (OR: 1.49, CI: 1.13-1.98; P=0.007 and OR: 1.49, CI: 1.14-1.95; P=0.0035). We found a significant (P<0.0001) cumulative effect of the at-risk alleles or genotypes with OR at 1.62 (CI: 1.10-2.37), 2.09 (CI: 1.43-3.07), 2.87 (CI: 1.76-4.70) and 3.88 (CI: 1.72-8.76) for 1, 2, 3 and at least 4 at-risk alleles, respectively, and OR at 1.71 (CI: 1.18-2.46), 2.29 (CI: 1.55-3.38) and 6.21 (CI: 2.67-14.42) for 1, 2 and 3 at-risk genotypes, respectively. Combination of SNPs may therefore explain a fraction of clinical situations suggestive of an increased risk for CRC.
Databáze: MEDLINE
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