Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

Autor: Ramus, Susan J., Antoniou, Antonis C., Kuchenbaecker, Karoline B., Penny, Soucy, Jonathan, Beesley, Xiaoqing, Chen, Lesley, Mcguffog, Sinilnikova, Olga M., Sue, Healey, Daniel, Barrowdale, Andrew, Lee, Mads, Thomassen, Anne Marie Gerdes, Kruse, Torben A., Uffe Birk Jensen, Anne Bine Skytte, Caligo, Maria A., Annelie, Liljegren, Annika, Lindblom, Hakan, Olsson, Ulf, Kristoffersson, Marie Stenmark Askmalm, Swe Brca Melin, B., Swe, Brca, Domchek, Susan M., Domchek, Sm, Nathanson, Katherine L., Rebbeck, Timothy R., Anna, Jakubowska, Jan, Lubinski, Katarzyna, Jaworska, Katarzyna, Durda, Elzbieta, Złowocka, Jacek, Gronwald, Tomasz, Huzarski, Tomasz, Byrski, Cezary, Cybulski, Aleksandra Toloczko Grabarek, Ana, Osorio, Javier, Benitez, Mercedes, Duran, Maria Isabel Tejada, Ute, Hamann, Matti, Rookus, Van Leeuwen, Flora E., Aalfs, Cora M., Meijers Heijboer, Hanne E. J., Van Asperen, Christi J., Van Roozendaal, K. E. P., Nicoline, Hoogerbrugge, Collee, Margriet J., Margriet Collee, J., Mieke, Kriege, Hebon Van Der Luijt, R. B., Embrace, Embrace, Hebon, Susan, Peock, Debra, Frost, Ellis, Steve D., Radka, Platte, Elena, Fineberg, Gareth Evans, D., Fiona, Lalloo, Chris, Jacobs, Ros, Eeles, Julian, Adlard, Rosemarie, Davidson, Diana, Eccles, Trevor, Cole, Jackie, Cook, Joan, Paterson, Fiona, Douglas, Carole, Brewer, Shirley, Hodgson, Morrison, Patrick J., Lisa, Walker, Porteous, Mary E., John Kennedy, M., Harsh, Pathak, Godwin, Andrew K., Dominique Stoppa Lyonnet, Virginie Caux Moncoutier, Antoine Pauw, D. E., De Pauw, A., Marion Gauthier Villars, Sylvie, Mazoyer, Melanie, Leone, Alain, Calender, Christine, Lasset, Valerie, Bonadona, Agnes, Hardouin, Pascaline, Berthet, Yves Jean Bignon, Nancy, Uhrhammer, Laurence, Faivre, Catherine, Loustalot, Gemo, Saundra, Buys, Mary, Daly, Buys, Daly, S., Alex, Miron, Beth, Terry M., Mary Beth Terry, Terry, M. B., Chung, Wendy K., Esther, John M., John, Em, Melissa, Southey, David, Goldgar, Singer, Christian F., Muy Kheng Tea, Georg, Pfeiler, Anneliese Fink Retter, Hansen, Thomas V. O., Hansen, Tv, Bent, Ejlertsen, Oskar Th Johannsson, Kenneth, Offit, Tomas, Kirchhoff, Gaudet, Mia M., Joseph, Vijai, Mark, Robson, Marion, Piedmonte, Kelly Anne Phillips, Linda Van Le, Hoffman, James S., Amanda Ewart Toland, Ewart Toland, A., Marco, Montagna, Silvia, Tognazzo, Evgeny, Imyanitov, Claudine, Isaacs, Issacs, C., Ramunas, Janavicius, Conxi, Lazaro, Ignacio, Blanco, Eva, Tornero, Matilde, Navarro, Moysich, Kirsten B., Karlan, Beth Y., Jenny, Gross, Edith, Olah, Tibor, Vaszko, Soo Hwang Teo, Ganz, Patricia A., Beattie, Mary S., Dorfling, Cecelia M., Van Rensburg, Elizabeth J., Orland, Diez, Ava, Kwong, Schmutzler, Rita K., Barbara, Wappenschmidt, Christoph, Engel, Alfons, Meindl, Nina, Ditsch, Norbert, Arnold, Simone, Heidemann, Dieter, Niederacher, Sabine Preisler Adams, Dorotehea, Gadzicki, Raymonda Varon Mateeva, Helmut, Deissler, Andrea, Gehrig, Christian, Sutter, Karin, Kast, Britta, Fiebig, Dieter, Schafer, Trinidad, Caldes, Miguel De La Hoya, Heli, Nevanlinna, Kristiina, Aittomaki, Marie, Plante, Kconfab Spurdle, A. B., Kconfab, Neuhausen, Susan L., Neuhausen, Sl, Yuan Chun Ding, Xianshu, Wang, Noralane, Lindor, Zachary, Fredericksen, Shane Pankratz, V., Paolo, Peterlongo, Siranoush, Manoukian, Bernard, Peissel, Daniela, Zaffaroni, Bernardo, Bonanni, Loris, Bernard, Riccardo, Dolcetti, Laura, Papi, Ottini, Laura, Paolo, Radice, Greene, Mark H., Mai, Phuong L., Andrulis, Irene L., Gord, Glendon, Ocgn Ozcelik, H., Ocgn, Pharoah, Paul D. P., Pharoah, Pd, Gayther, Simon A., Jacques, Simard, Easton, Douglas F., Couch, Fergus J., Georgia Chenevix Trench, Behalf Of The Consortium Of Investigators Of Modifiers Of Brca1/2, O. N.
Přispěvatelé: 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), Human Genetics, CCA -Cancer Center Amsterdam, ARD - Amsterdam Reproduction and Development, Universitat de Barcelona, Genetica & Celbiologie, MUMC+: DA KG Lab Centraal Lab (9), RS: CARIM School for Cardiovascular Diseases, RS: GROW - School for Oncology and Reproduction, Clinical Genetics
Jazyk: angličtina
Rok vydání: 2012
Předmět:
Oncology
endocrine system diseases
[SDV]Life Sciences [q-bio]
Càncer d'ovari
DCN PAC - Perception action and control
Cohort Studies
Breast cancer
0302 clinical medicine
brca1
brca2
Odds Ratio
Genetics (clinical)
ComputingMilieux_MISCELLANEOUS
Ovarian Neoplasms
Genetics
0303 health sciences
education.field_of_study
BRCA1 Protein
Hazard ratio
Middle Aged
3. Good health
ovarian cancer
030220 oncology & carcinogenesis
Female
Adult
Heterozygote
medicine.medical_specialty
Hereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1]
Population
Single-nucleotide polymorphism
Biology
Ovarian Neoplasms - genetics
Polymorphism
Single Nucleotide
Article
Càncer de mama
03 medical and health sciences
Germline mutation
SDG 3 - Good Health and Well-being
Translational research [ONCOL 3]
Ovarian cancer
Internal medicine
medicine
Humans
Genetic Predisposition to Disease
ddc:610
Genetics and epigenetic pathways of disease Translational research [NCMLS 6]
education
Retrospective Studies
030304 developmental biology
BRCA2 Protein
Hereditary cancer and cancer-related syndromes [ONCOL 1]
association
Retrospective cohort study
snp
Odds ratio
BRCA1 Protein - genetics
medicine.disease
BRCA2 Protein - genetics
Mutation
Zdroj: Human Mutation
Human Mutation, Wiley, 2012, 33, pp.690-702. ⟨10.1002/humu.22025⟩
Recercat. Dipósit de la Recerca de Catalunya
instname
Human mutation, 33(4), 690-702. Wiley-Liss Inc.
Human Mutation, 2012, 33, pp.690-702. ⟨10.1002/humu.22025⟩
Dipòsit Digital de la UB
Universidad de Barcelona
Human Mutation; Vol 33
Human Mutation, 33, 690-702
Human Mutation, 33, 4, pp. 690-702
Ramus, S J, Antoniou, A C, Kuchenbaecker, K B, Soucy, P, Beesley, J, Chen, X, McGuffog, L, Sinilnikova, O M, Healey, S, Barrowdale, D, Lee, A R, Thomassen, M, Gerdes, A-M A, Kruse, T A, Jensen, U B, Skytte, A-B S, Caligo, M A, Liljegren, A, Lindblom, A, Olsson, H, Kristoffersson, U, Stenmark-Askmalm, M, Melin, B, Domchek, S M, Nathanson, K L, Rebbeck, T R, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Złowocka, E, Gronwald, J, Huzarski, T, Byrski, T, Cybulski, C, Toloczko-Grabarek, A, Osorio, A, Benitez, J, Duran, M, Tejada, M-I, Hamann, U, Rookus, M, van Leeuwen, F E, Aalfs, C M, Meijers-Heijboer, H E J, van Asperen, C J, van Roozendaal, K E P, Hoogerbrugge, N, Collée, J M, Hansen, T V O & SWE-BRCA 2012, ' Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers ', Human Mutation, vol. 33, no. 4, pp. 690-702 . https://doi.org/10.1002/humu.22025
Human Mutation, 33(4), 690-702. Wiley
Ramus, S J, Antoniou, A C, Kuchenbaecker, K B, Soucy, P, Beesley, J, Chen, X, McGuffog, L, Sinilnikova, O M, Healey, S, Barrowdale, D, Lee, A, Thomassen, M, Gerdes, A-M, Kruse, T A, Jensen, U B, Skytte, A-B, Caligo, M A, Liljegren, A, Lindblom, A, Olsson, H, Kristoffersson, U, Stenmark-Askmalm, M, Melin, B, Domchek, S M, Nathanson, K L, Rebbeck, T R, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Złowocka, E, Gronwald, J, Huzarski, T, Byrski, T, Cybulski, C, Toloczko-Grabarek, A, Osorio, A, Benitez, J, Duran, M, Tejada, M-I, Hamann, U, Rookus, M, van Leeuwen, F E, Aalfs, C M, Meijers-Heijboer, H E J, van Asperen, C J, van Roozendaal, K E P, Hoogerbrugge, N, Collée, J M, Kriege, M & SWE-BRCA 2012, ' Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers ', Human Mutation, vol. 33, no. 4, pp. 690-702 . https://doi.org/10.1002/humu.22025
Human Mutation, 33(4), 690-702
Human Mutation, 33(4), 690-702. Wiley-Liss Inc.
ISSN: 1059-7794
1098-1004
DOI: 10.1002/humu.22025⟩
Popis: Germline mutations in BRCA1 and BRCA2 are associated with increased risks of breast and ovarian cancer. A genome-wide association study (GWAS) identified six alleles associated with risk of ovarian cancer for women in the general population. We evaluated four of these loci as potential modifiers of ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Four single-nucleotide polymorphisms (SNPs), rs10088218 (at 8q24), rs2665390 (at 3q25), rs717852 (at 2q31), and rs9303542 (at 17q21), were genotyped in 12,599 BRCA1 and 7,132 BRCA2 carriers, including 2,678 ovarian cancer cases. Associations were evaluated within a retrospective cohort approach. All four loci were associated with ovarian cancer risk in BRCA2 carriers; rs10088218 per-allele hazard ratio (HR) = 0.81 (95% CI: 0.67-0.98) P-trend = 0.033, rs2665390 HR = 1.48 (95% CI: 1.21-1.83) P-trend = 1.8 x 10(-4), rs717852 HR = 1.25 (95% CI: 1.10-1.42) P-trend = 6.6 x 10(-4), rs9303542 HR = 1.16 (95% CI: 1.02-1.33) P-trend = 0.026. Two loci were associated with ovarian cancer risk in BRCA1 carriers; rs10088218 per-allele HR = 0.89 (95% CI: 0.81-0.99) P-trend = 0.029, rs2665390 HR = 1.25 (95% CI: 1.10-1.42) P-trend = 6.1 x 10(-4). The HR estimates for the remaining loci were consistent with odds ratio estimates for the general population. The identification of multiple loci modifying ovarian cancer risk may be useful for counseling women with BRCA1 and BRCA2 mutations regarding their risk of ovarian cancer.
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Databáze: OpenAIRE
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