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

Stéphanie Baert-Desurmont; Françoise Charbonnier; Estelle Houivet; Lorena Ippolito; Jacques Mauillon; Marion Bougeard; Caroline Abadie; David Malka; Jacqueline Duffour; Françoise Desseigne; Chrystelle Colas; Pascal Pujol; Sophie Lejeune; Catherine Dugast; Bruno Buecher; Laurence Faivre; Dominique Leroux; Paul Gesta; Isabelle Coupier; Rosine Guimbaud; Pascaline Berthet; Sylvie Manouvrier; Estelle Cauchin; Fabienne Prieur; Pierre Laurent-Puig; Marine Lebrun; Philippe Jonveaux; Jean Chiesa; Olivier Caron; Marie Emmanuelle Morin-Meschin; Florence Polycarpe-Osaer; Sophie Giraud; Aziz Zaanan; Delphine Bonnet; Ludovic Mansuy; Valérie Bonadona; Salima El Chehadeh; François Duhoux; Marion Gauthier-Villars; Jea Christophe Saurin; Marie Agnès Collonge-Rame; Laurence Brugières; Qing Wang; Brigitte Bressac-de Paillerets; Jean Marc Rey; Christine Toulas; Marie Pierre Buisine; Myriam Bronner; Joanna Sokolowska; Agnès Hardouin; Anne Françoise Cailleux; Hakim Sebaoui; Julien Blot; Julie Tinat; Jacques Benichou; Thierry Frebourg

doi:10.1038/ejhg.2015.72

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

Stéphanie Baert-Desurmont, Françoise Charbonnier, Estelle Houivet, Lorena Ippolito, Jacques Mauillon, Marion Bougeard, Caroline Abadie, David Malka, Jacqueline Duffour, Françoise Desseigne, Chrystelle Colas, Pascal Pujol, Sophie Lejeune, Catherine Dugast, Bruno Buecher, Laurence Faivre, Dominique Leroux, Paul Gesta, Isabelle Coupier, Rosine GuimbaudPascaline Berthet, Sylvie Manouvrier, Estelle Cauchin, Fabienne Prieur, Pierre Laurent-Puig, Marine Lebrun, Philippe Jonveaux, Jean Chiesa, Olivier Caron, Marie Emmanuelle Morin-Meschin, Florence Polycarpe-Osaer, Sophie Giraud, Aziz Zaanan, Delphine Bonnet, Ludovic Mansuy, Valérie Bonadona, Salima El Chehadeh, François Duhoux, Marion Gauthier-Villars, Jea Christophe Saurin, Marie Agnès Collonge-Rame, Laurence Brugières, Qing Wang, Brigitte Bressac-de Paillerets, Jean Marc Rey, Christine Toulas, Marie Pierre Buisine, Myriam Bronner, Joanna Sokolowska, Agnès Hardouin, Anne Françoise Cailleux, Hakim Sebaoui, Julien Blot, Julie Tinat, Jacques Benichou, Thierry Frebourg

Résultats de recherche: Contribution à un journal › Article › Revue par des pairs

14 Citations (Scopus)

Résumé

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.

langue originale	Anglais
Pages (de - à)	99-105
Nombre de pages	7
journal	European Journal of Human Genetics
Volume	24
Numéro de publication	1
Les DOIs	https://doi.org/10.1038/ejhg.2015.72
état	Publié - 1 janv. 2016

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10.1038/ejhg.2015.72

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Baert-Desurmont, S., Charbonnier, F., Houivet, E., Ippolito, L., Mauillon, J., Bougeard, M., Abadie, C., Malka, D., Duffour, J., Desseigne, F., Colas, C., Pujol, P., Lejeune, S., Dugast, C., Buecher, B., Faivre, L., Leroux, D., Gesta, P., Coupier, I., ... Frebourg, T. (2016). Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk. European Journal of Human Genetics, 24(1), 99-105. https://doi.org/10.1038/ejhg.2015.72

@article{698f2bb0bf014772a84df2f82a960f0e,

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

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 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.",

author = "St{\'e}phanie Baert-Desurmont and Fran{\c c}oise Charbonnier and Estelle Houivet and Lorena Ippolito and Jacques Mauillon and Marion Bougeard and Caroline Abadie and David Malka and Jacqueline Duffour and Fran{\c c}oise Desseigne and Chrystelle Colas and Pascal Pujol and Sophie Lejeune and Catherine Dugast and Bruno Buecher and Laurence Faivre and Dominique Leroux and Paul Gesta and Isabelle Coupier and Rosine Guimbaud and Pascaline Berthet and Sylvie Manouvrier and Estelle Cauchin and Fabienne Prieur and Pierre Laurent-Puig and Marine Lebrun and Philippe Jonveaux and Jean Chiesa and Olivier Caron and Morin-Meschin, {Marie Emmanuelle} and Florence Polycarpe-Osaer and Sophie Giraud and Aziz Zaanan and Delphine Bonnet and Ludovic Mansuy and Val{\'e}rie Bonadona and {El Chehadeh}, Salima and Fran{\c c}ois Duhoux and Marion Gauthier-Villars and Saurin, {Jea Christophe} and Collonge-Rame, {Marie Agn{\`e}s} and Laurence Brugi{\`e}res and Qing Wang and {Bressac-de Paillerets}, Brigitte and Rey, {Jean Marc} and Christine Toulas and Buisine, {Marie Pierre} and Myriam Bronner and Joanna Sokolowska and Agn{\`e}s Hardouin and Cailleux, {Anne Fran{\c c}oise} and Hakim Sebaoui and Julien Blot and Julie Tinat and Jacques Benichou and Thierry Frebourg",

note = "Publisher Copyright: {\textcopyright} 2016 Macmillan Publishers Limited.",

year = "2016",

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doi = "10.1038/ejhg.2015.72",

language = "English",

volume = "24",

pages = "99--105",

journal = "European Journal of Human Genetics",

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Baert-Desurmont, S, Charbonnier, F, Houivet, E, Ippolito, L, Mauillon, J, Bougeard, M, Abadie, C, Malka, D, Duffour, J, Desseigne, F, Colas, C, Pujol, P, Lejeune, S, Dugast, C, Buecher, B, Faivre, L, Leroux, D, Gesta, P, Coupier, I, Guimbaud, R, Berthet, P, Manouvrier, S, Cauchin, E, Prieur, F, Laurent-Puig, P, Lebrun, M, Jonveaux, P, Chiesa, J, Caron, O, Morin-Meschin, ME, Polycarpe-Osaer, F, Giraud, S, Zaanan, A, Bonnet, D, Mansuy, L, Bonadona, V, El Chehadeh, S, Duhoux, F, Gauthier-Villars, M, Saurin, JC, Collonge-Rame, MA, Brugières, L, Wang, Q, Bressac-de Paillerets, B, Rey, JM, Toulas, C, Buisine, MP, Bronner, M, Sokolowska, J, Hardouin, A, Cailleux, AF, Sebaoui, H, Blot, J, Tinat, J, Benichou, J & Frebourg, T 2016, 'Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk', European Journal of Human Genetics, VOL. 24, Numéro 1, p. 99-105. https://doi.org/10.1038/ejhg.2015.72

TY - JOUR

T1 - Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk

AU - Baert-Desurmont, Stéphanie

AU - Charbonnier, Françoise

AU - Houivet, Estelle

AU - Ippolito, Lorena

AU - Mauillon, Jacques

AU - Bougeard, Marion

AU - Abadie, Caroline

AU - Malka, David

AU - Duffour, Jacqueline

AU - Desseigne, Françoise

AU - Colas, Chrystelle

AU - Pujol, Pascal

AU - Lejeune, Sophie

AU - Dugast, Catherine

AU - Buecher, Bruno

AU - Faivre, Laurence

AU - Leroux, Dominique

AU - Gesta, Paul

AU - Coupier, Isabelle

AU - Guimbaud, Rosine

AU - Berthet, Pascaline

AU - Manouvrier, Sylvie

AU - Cauchin, Estelle

AU - Prieur, Fabienne

AU - Laurent-Puig, Pierre

AU - Lebrun, Marine

AU - Jonveaux, Philippe

AU - Chiesa, Jean

AU - Caron, Olivier

AU - Morin-Meschin, Marie Emmanuelle

AU - Polycarpe-Osaer, Florence

AU - Giraud, Sophie

AU - Zaanan, Aziz

AU - Bonnet, Delphine

AU - Mansuy, Ludovic

AU - Bonadona, Valérie

AU - El Chehadeh, Salima

AU - Duhoux, François

AU - Gauthier-Villars, Marion

AU - Saurin, Jea Christophe

AU - Collonge-Rame, Marie Agnès

AU - Brugières, Laurence

AU - Wang, Qing

AU - Bressac-de Paillerets, Brigitte

AU - Rey, Jean Marc

AU - Toulas, Christine

AU - Buisine, Marie Pierre

AU - Bronner, Myriam

AU - Sokolowska, Joanna

AU - Hardouin, Agnès

AU - Cailleux, Anne Françoise

AU - Sebaoui, Hakim

AU - Blot, Julien

AU - Tinat, Julie

AU - Benichou, Jacques

AU - Frebourg, Thierry

PY - 2016/1/1

Y1 - 2016/1/1

N2 - 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.

AB - 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.

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U2 - 10.1038/ejhg.2015.72

DO - 10.1038/ejhg.2015.72

M3 - Article

C2 - 25873010

AN - SCOPUS:84951574013

SN - 1018-4813

VL - 24

SP - 99

EP - 105

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 1

ER -