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

Stephanie Baert-Desurmont 1, 2, 3 Francoise Charbonnier 1, 2, 3 Estelle Houivet 4, 5 Lorena Ippolito 1, 3 Jacques Mauillon 2 Marion Bougeard 1 Caroline Abadie 1, 6 David Malka 7 Jacqueline Duffour 8 Françoise Desseigne 9 Chrystelle Colas 10 Pascal Pujol 11 Sophie Lejeune 12 Catherine Dugast 6 Bruno Buecher 13 Laurence Faivre 14 Dominique Leroux 15 Paul Gesta 16 Isabelle Coupier 11 Rosine Guimbaud 17 Pascaline Berthet 18 Sylvie Manouvrier 12 Estelle Cauchin 19 Fabienne Prieur 20 Pierre Laurent-Puig 21 Marine Lebrun 20 Philippe Jonveaux 22 Jean Chiesa 23 Olivier Caron 7 Marie-Emmanuelle Morin-Meschin 24 Florence Polycarpe-Osaer 18 Sophie Giraud 25 Aziz Zaanan 21 Delphine Bonnet 26 Ludovic Mansuy 22 Valerie Bonadona 9 Salima El Chehadeh 14 Francois Duhoux 27 Marion Gauthier-Villars 13 Jean-Christophe Saurin 25, 28 Marie-Agnes Collonge-Rame 29 Laurence Brugieres 7 Qing Wang 9 Brigitte Bressac-de Paillerets 7 Jean-Marc Rey 11 Christine Toulas 17 Marie-Pierre Buisine 30 Myriam Bronner 22 Joanna Sokolowska 22 Agnes Hardouin 18 Anne-Francoise Cailleux 5 Hakim Sebaoui 31 Julien Blot 31 Julie Tinat 1, 2, 3 Jacques Benichou 4 Thierry Frebourg 1, 2, 3, * 
* Corresponding author
Abstract : 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 chi(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.
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Stephanie Baert-Desurmont, Francoise Charbonnier, Estelle Houivet, Lorena Ippolito, Jacques Mauillon, et al.. Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk. European Journal of Human Genetics, 2016, 24 (1), pp.99-105. ⟨10.1038/ejhg.2015.72⟩. ⟨hal-01659109⟩

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