Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers
| Autor: | Thomas v O Hansen, Amanda B. Spurdle, Anne-Marie Gerdes, Sue Healey, Per Karlsson, Tomasz Huzarski, Mary B. Daly, Mary Porteous, T. Caldes, Ulf Kristoffersson, Ignacio Blanco, A. Miron, Laurence Faivre, Barbara Wappenschmidt, Laurence Venat-Bouvet, Marie Stenmark Askmalm, Olga M. Sinilnikova, Susan Peock, Alessandra Viel, Conxi Lázaro, Katherine L. Nathanson, Laurent Castera, Douglas F. Easton, Susan L. Neuhausen, Jan Lubinski, Phuong L. Mai, Virginie Moncoutier, Paolo Radice, Heli Nevanlinna, Christi J Asperen, Xianshu Wang, Brita Arver, Christian Sutter, Senno Verhoef, Rosette Lidereau, Mary S Beattie, Bjarni A Agnarsson, Ina Ruehl, Monica Barile, Bent Ejlertsen, Laura Ottini, Catherine Noguès, Jennifer A. Przybylo, Cinzia Casella, Trevor Cole, Norbert Arnold, Sandra Fert-Ferrer, Hilmi Ozcelik, Irene L. Andrulis, Susan M. Domchek, Valérie Bonadona, Kirsten B. Moysich, David E. Goldgar, Anna Jakubowska, Paul D.P. Pharoah, Beth Y. Karlan, Jenny Gross, Gaia Roversi, Tadeusz Dębniak, Hanne Meijers-Heijboer, Susan J. Ramus, Dorthe G. Crüger, Zachary S. Fredericksen, Siranoush Manoukian, Viviana Gismondi, Maria A. Caligo, Helene Holland, Laure Barjhoux, Gord Glendon, Ana Osorio, Jacques Simard, John L. Hopper, Mercedes Durán, Kristiina Aittomäki, Håkan Olsson, Mads Thomassen, Fabio Capra, Patrick J. Morrison, Britta Fiebig, Mary Beth Terry, Marinus J. Blok, Evgeny N. Imyanitov, Joseph Vijai, Javier Benitez, Mark T. Rogers, D. Gareth Evans, Helmut Deissler, Tomasz Byrski, Sylvie Mazoyer, Laura Papi, Dominique Stoppa-Lyonnet, Marco Montagna, Kenneth Offit, Cezary Cybulski, Dominique Leroux, Georgia Chenevix-Trench, Danielle Bodmer, Lucy Side, Margaret Cook, Ros Eeles, Alan Donaldson, Christiana Kartsonaki, Carole Brewer, Matti A. Rookus, Jacek Gronwald, Dorothea Gadzicki, Shirley Hodgson, Jonathan Beesley, Gabriella Pichert, Andrew K. Godwin, Dieter Niederacher, Yuan Chun Ding, Torben A Kruse, Paolo Peterlongo, Rita K. Schmutzler, Xiaoqing Chen, Annika Lindblom, Fergus J. Couch, Maaike P.G. Vreeswijk, Mark H. Greene, Esther M. John, Raymonda Varon-Mateeva, Simon A. Gayther, Margreet G. E. M. Ausems, Tomas Kirchhoff, Lars Jønson, Madeleine M. A. Tilanus-Linthorst, Ute Hamann, Marie-Agnès Collonge-Rame, Antonis C. Antoniou, M John Kennedy, Karin Kast, Theo A. M. van Os, Penny Soucy, Debra Frost, Alison M. Dunning, Daniela Zaffaroni, Anna Allavena, Maria-Isabel Tejada, Yves-Jean Bignon, Lesley McGuffog, Bohdan Górski, Åke Borg, Fabienne Prieur, Bernard Peissel, Helen Gregory, Clare Oliver, Saundra S. Buys, Ana Dutra-Clarke, Alfons Meindl, Ramunas Janavicius, Uffe Birk Jensen, Miguel de la Hoya |
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| Přispěvatelé: | Ramus, S, Kartsonaki, C, Gayther, S, Pharoah, P, Sinilnikova, O, Beesley, J, Chen, X, Mcguffog, L, Healey, S, Couch, F, Wang, X, Fredericksen, Z, Peterlongo, P, Manoukian, S, Peissel, B, Zaffaroni, D, Roversi, G, Barile, M, Viel, A, Allavena, A, Ottini, L, Papi, L, Gismondi, V, Capra, F, Radice, P, Greene, M, Mai, P, Andrulis, I, Glendon, G, Ozcelik, H, Thomassen, M, Gerdes, A, Kruse, T, Cruger, D, Jensen, U, Caligo, M, Olsson, H, Kristoffersson, U, Lindblom, A, Arver, B, Karlsson, P, Stenmark Askmalm, M, Borg, A, Neuhausen, S, Ding, Y, Nathanson, K, Domchek, S, Jakubowska, A, Lubiński, J, Huzarski, T, Byrski, T, Gronwald, J, Górski, B, Cybulski, C, Dębniak, T, Osorio, A, Durán, M, Tejada, M, Benítez, J, Hamann, U, Rookus, M, Verhoef, S, Tilanus Linthorst, M, Vreeswijk, M, Bodmer, D, Ausems, M, van Os, T, Asperen, C, Blok, M, Meijers Heijboer, H, Peock, S, Cook, M, Oliver, C, Frost, D, Dunning, A, Evans, D, Eeles, R, Pichert, G, Cole, T, Hodgson, S, Brewer, C, Morrison, P, Porteous, M, Kennedy, M, Rogers, M, Side, L, Donaldson, A, Gregory, H, Godwin, A, Stoppa Lyonnet, D, Moncoutier, V, Castera, L, Mazoyer, S, Barjhoux, L, Bonadona, V, Leroux, D, Faivre, L, Lidereau, R, Nogues, C, Bignon, Y, Prieur, F, Collonge Rame, M, Venat Bouvet, L, Fert Ferrer, S, Miron, A, Buys, S, Hopper, J, Daly, M, John, E, Terry, M, Goldgar, D, Hansen, T, Jønson, L, Ejlertsen, B, Agnarsson, B, Offit, K, Kirchhoff, T, Vijai, J, Dutra Clarke, A, Przybylo, J, Montagna, M, Casella, C, Imyanitov, E, Janavicius, R, Blanco, I, Lázaro, C, Moysich, K, Karlan, B, Gross, J, Beattie, M, Schmutzler, R, Wappenschmidt, B, Meindl, A, Ruehl, I, Fiebig, B, Sutter, C, Arnold, N, Deissler, H, Varon Mateeva, R, Kast, K, Niederacher, D, Gadzicki, D, Caldes, T, de la Hoya, M, Nevanlinna, H, Aittomäki, K, Simard, J, Soucy, P, Spurdle, A, Holland, H, Chenevix Trench, G, Easton, D, Antoniou, A, Faculteit Medische Wetenschappen/UMCG, Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Klinische Genetica, Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction, Clinical Genetics, Pediatric Surgery, Human genetics, CCA - Oncogenesis, Human Genetics |
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Oncology
Cancer Research endocrine system diseases Genes BRCA2 Genes BRCA1 Genome-wide association study FAMILIES 0302 clinical medicine Risk Factors Retrospective Studie Genotype Odds Ratio skin and connective tissue diseases POPULATION Genetics Ovarian Neoplasms Aged 80 and over Allele 0303 health sciences education.field_of_study Likelihood Functions Articles GERMLINE MUTATIONS Middle Aged Likelihood Function female genital diseases and pregnancy complications 3. Good health 030220 oncology & carcinogenesis Female Chromosomes Human Pair 9 Human Adult [SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT] medicine.medical_specialty Heterozygote SUSCEPTIBILITY LOCI PROTEINS Population Biology Polymorphism Single Nucleotide BASONUCLIN-2 03 medical and health sciences Breast cancer Germline mutation SDG 3 - Good Health and Well-being Internal medicine medicine BREAST-CANCER Humans GENOME-WIDE ASSOCIATION education Alleles Germ-Line Mutation 030304 developmental biology Retrospective Studies Aged IDENTIFICATION Risk Factor Ovarian Neoplasm Editorials Cancer medicine.disease Minor allele frequency Ovarian cancer |
| Zdroj: | JOURNAL OF THE NATIONAL CANCER INSTITUTE, 103(2), 105-116. Oxford University Press Ramus, S J, Kartsonaki, C, Gayther, S A, Pharoah, P D P, Sinilnikova, O M, Beesley, J, Chen, X Q, McGuffog, L, Healey, S, Couch, F J, Wang, X S, Fredericksen, Z, Peterlongo, P, Manoukian, S, Peissel, B, Zaffaroni, D, Roversi, G, Barile, M, Viel, A, Allavena, A, Ottini, L, Papi, L, Gismondi, V, Capra, F, Radice, P, Greene, M H, Mai, P L, Andrulis, I L, Glendon, G, Ozcelik, H, Thomassen, M, Gerdes, A M, Kruse, T A, Cruger, D, Jensen, U B, Caligo, M A, Olsson, H, Kristoffersson, U, Lindblom, A, Arver, B, Karlsson, P, Askmalm, M S, Borg, A, Neuhausen, S L, Ding, Y C, Nathanson, K L, Domchek, S M, Jakubowska, A, Lubinski, J, Huzarski, T, Byrski, T, Gronwald, J, Gorski, B, Cybulski, C, Debniak, T, Osorio, A, Duran, M, Tejada, M I, Benitez, J, Hamann, U, Rookus, M A, Verhoef, S, Tilanus-Linthorst, M A, Vreeswijk, M P, Bodmer, D, Ausems, M G E M, Os, T A, van Asperen, C J, Blok, M J, Meijers-Heijboer, E J, Peock, S, Cook, M, Oliver, C, Frost, D, Dunning, A M, Evans, D G, Eeles, R, Pichert, G, Cole, T, Hodgson, S, Brewer, C, Morrison, P J, Porteous, M, Kennedy, M J, Rogers, M T, Side, L E, Donaldson, A, Gregory, H, Godwin, A, Stoppa-Lyonnet, D, Moncoutier, V, Castera, L, Mazoyer, S, Barjhoux, L, Bonadona, V, Leroux, D, Faivre, L, Lidereau, R & Nogues, C 2011, ' Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers ', Journal of the National Cancer Institute, vol. 103, no. 2, pp. 105-116 . https://doi.org/10.1093/jnci/djq494 Ramus, S J, Kartsonaki, C, Gayther, S A, Pharoah, P D P, Sinilnikova, O M, Beesley, J, Chen, X, McGuffog, L, Healey, S, Couch, F J, Wang, X, Fredericksen, Z, Peterlongo, P, Manoukian, S, Peissel, B, Zaffaroni, D, Roversi, G, Barile, M, Viel, A, Allavena, A, Ottini, L, Papi, L, Gismondi, V, Capra, F, Radice, P, Greene, M H, Mai, P L, Andrulis, I L, Glendon, G, Ozcelik, H, Thomassen, M, Gerdes, A-M A, Kruse, T A, Cruger, D, Jensen, U B, Caligo, M A, Olsson, H, Kristoffersson, U, Lindblom, A, Arver, B, Karlsson, P W, Stenmark Askmalm, M, Borg, A, Neuhausen, S L, Ding, Y C, Nathanson, K L, Frost, D, Hansen, T V O, Holland, H & OCGN 2011, ' Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers ', Journal of the National Cancer Institute, vol. 103, no. 2, pp. 105-16 . https://doi.org/10.1093/jnci/djq494 University of Manchester-PURE Journal of the National Cancer Institute Journal of the National Cancer Institute, 2011, 103, pp.1-13 Journal of the National Cancer Institute, 103(2). Oxford University Press JNCI: Journal of the National Cancer Institute JNCI: Journal of the National Cancer Institute, 2011, 103, pp.1-13. ⟨10.1093/jnci/djq494⟩ Digital.CSIC. Repositorio Institucional del CSIC instname Ramus, S J, Kartsonaki, C, Gayther, S A, Pharoah, P D P, Sinilnikova, O M, Beesley, J, Chen, X, McGuffog, L, Healey, S, Couch, F J, Wang, X, Fredericksen, Z, Peterlongo, P, Manoukian, S, Peissel, B, Zaffaroni, D, Roversi, G, Barile, M, Viel, A, Allavena, A, Ottini, L, Papi, L, Gismondi, V, Capra, F, Radice, P, Greene, M H, Mai, P L, Andrulis, I L, Glendon, G, Ozcelik, H, Thomassen, M, Gerdes, A-M, Kruse, T A, Cruger, D, Jensen, U B, Caligo, M A, Olsson, H, Kristoffersson, U, Lindblom, A, Arver, B, Karlsson, P, Stenmark Askmalm, M, Borg, A, Neuhausen, S L, Ding, Y C, Nathanson, K L, Domchek, S M, Jakubowska, A, Lubinski, J, Huzarski, T & OCGN 2011, ' Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers ', National Cancer Institute. Journal , vol. 103, no. 2, pp. 105-116 . https://doi.org/10.1093/jnci/djq494 Journal of the National Cancer Institute, 103(2), 105-116. Oxford University Press |
| ISSN: | 0027-8874 1460-2105 |
| Popis: | [Background]: Germline mutations in the BRCA1 and BRCA2 genes are associated with increased risks of breast and ovarian cancers. Although several common variants have been associated with breast cancer susceptibility in mutation carriers, none have been associated with ovarian cancer susceptibility. A genome-wide association study recently identified an association between the rare allele of the single-nucleotide polymorphism (SNP) rs3814113 (ie, the C allele) at 9p22.2 and decreased risk of ovarian cancer for women in the general population. We evaluated the association of this SNP with ovarian cancer risk among BRCA1 or BRCA2 mutation carriers by use of data from the Consortium of Investigators of Modifiers of BRCA1/2. [Methods]: We genotyped rs3814113 in 10 029 BRCA1 mutation carriers and 5837 BRCA2 mutation carriers. Associations with ovarian and breast cancer were assessed with a retrospective likelihood approach. All statistical tests were two-sided. [Results]: The minor allele of rs3814113 was associated with a reduced risk of ovarian cancer among BRCA1 mutation carriers (per-allele hazard ratio of ovarian cancer = 0.78, 95% confidence interval = 0.72 to 0.85; P = 4.8 × 10-9) and BRCA2 mutation carriers (hazard ratio of ovarian cancer = 0.78, 95% confidence interval = 0.67 to 0.90; P = 5.5 × 10-4). This SNP was not associated with breast cancer risk among either BRCA1 or BRCA2 mutation carriers. BRCA1 mutation carriers with the TT genotype at SNP rs3814113 were predicted to have an ovarian cancer risk to age 80 years of 48%, and those with the CC genotype were predicted to have a risk of 33%. [Conclusion]: Common genetic variation at the 9p22.2 locus was associated with decreased risk of ovarian cancer for carriers of a BRCA1 or BRCA2 mutation. Spanish National Cancer Center (CNIO) and the Spanish Consortium: Partially supported by Fundación Mutua Madrileña, Asociación Española Contra el Cáncer, and the Spanish Ministry of Science and Innovation (FIS PI08 1120). |
| Databáze: | OpenAIRE |
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