Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers
| Autor: | Blanco, I., Kuchenbaecker, K., Cuadras, D., Wang, X.S., Barrowdale, D., Garibay, G.R., Librado, P., Sanchez-Gracia, A., Rozas, J., Bonifaci, N., McGuffog, L., Pankratz, V.S., Islam, A., Mateo, F., Berenguer, A., Petit, A., Catala, I., Brunet, J., Feliubadalo, L., Tornero, E., Benitez, J., Osorio, A., Cajal, T.R.Y., Nevanlinna, H., Aittomaki, K., Arun, B.K., Toland, A.E., Karlan, B.Y., Walsh, C., Lester, J., Greene, M.H., Mai, P.L., Nussbaum, R.L., Andrulis, I.L., Domchek, S.M., Nathanson, K.L., Rebbeck, T.R., Barkardottir, R.B., Jakubowska, A., Lubinski, J., Durda, K., Jaworska-Bieniek, K., Claes, K., Maerken, T. van, Diez, O., Hansen, T.V., Jonson, L., Gerdes, A.M., Ejlertsen, B., Hoya, M. de la, Caldees, T., Dunning, A.M., Oliver, C., Fineberg, E., Cook, M., Peock, S., McCann, E., Murray, A., Jacobs, C., Pichert, G., Lalloo, F., Chu, C., Dorkins, H., Paterson, J., Ong, K.R., Teixeira, M.R., Teixeira, Hogervorst, F.B.L., Hout, A.H. van der, Seynaeve, C., Luijt, R.B. van der, Ligtenberg, M.J.L., Devilee, P., Wijnen, J.T., Rookus, M.A., Meijers-Heijboer, H.E.J., Blok, M.J., Ouweland, A.M.W. van den, Aalfs, C.M., Rodriguez, G.C., Phillips, K.A.A., Piedmonte, M., Nerenstone, S.R., Bae-Jump, V.L., O'Malley, D.M., Ratner, E.S., Schmutzler, R.K., Wappenschmidt, B., Rhiem, K., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Plendl, H.J., Niederacher, D., Sutter, C., Wang-Gohrke, S., Steinemann, D., Preisler-Adams, S., Kast, K., Varon-Mateeva, R., Gehrig, A., Bojesen, A., Pedersen, I.S., Sunde, L., Jensen, U.B., Thomassen, M., Kruse, T.A., Foretova, L., Peterlongo, P., Bernard, L., Peissel, B., Scuvera, G., Manoukian, S., Radice, P., Ottini, L., Montagna, M., Agata, S., Maugard, C., Simard, J., Soucy, P., Berger, A., Fink-Retter, A., Singer, C.F., Rappaport, C., Geschwantler-Kaulich, D., Tea, M.K., Pfeiler, G., John, E.M., Miron, A., Neuhausen, S.L., Terry, M.B., Chung, W.K., Daly, M.B., Goldgar, D.E., Janavicius, R., Dorfling, C.M., Rensburg, E.J. van, Fostira, F., Konstantopoulou, I., Garber, J., Godwin, A.K., Olah, E., Narod, S.A., Rennert, G., Paluch, S.S., Laitman, Y., Friedman, E., Liljegren, A., Rantala, J., Stenmark-Askmalm, M., Loman, N., Imyanitov, E.N., Hamann, U., Spurdle, A.B., Healey, S., Weitzel, J.N., Herzog, J., Margileth, D., Gorrini, C., Esteller, M., Gomez, A., Sayols, S., Vidal, E., Heyn, H., Stoppa-Lyonnet, Leone, M., Barjhoux, L., Fassy-Colcombet, M., Pauw, A. de, Lasset, C., Ferrer, S.F., Castera, L., Berthet, P., Cornelis, F., Bignon, Y.J., Damiola, F., Mazoyer, S., Sinilnikova, O.M., Maxwell, C.A., Vijai, J., Robson, M., Kauff, N., Corines, M.J., Villano, D., Cunningham, J., Lee, A., Lindor, N., Lazaro, C., Easton, D.F., Offit, K., Chenevix-Trench, G., Couch, F.J., Antoniou, A.C., Pujana, M.A., BCFR, SWE-BRCA, KConFab Investigators, GEMO |
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| Přispěvatelé: | Human genetics, CCA - Oncogenesis, Medical Oncology, Clinical Genetics, Suzuki, Hiromu, MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - Oncology, RS: GROW - R4 - Reproductive and Perinatal Medicine, CCA -Cancer Center Amsterdam, ARD - Amsterdam Reproduction and Development, Human Genetics, Department of Obstetrics and Gynecology, Clinicum, Medicum, Haartman Institute (-2014), Department of Medical and Clinical Genetics |
| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
single nucleotide
Oncology Carcinogenesis TUBG1 Genes BRCA2 Genes BRCA1 Càncer d'ovari MODIFIERS Genome-wide association study Cell Cycle Proteins Breast cancer mammary glands Aetiology genes skin and connective tissue diseases Cancer Extracellular Matrix Proteins Hazard ratio CHIP-SEQ 3. Good health ddc Hyaluronan Receptors Medicine Teixeira Human medicine.medical_specialty Evolution Science Non-P.H.S Single-nucleotide polymorphism Evolution Molecular SDG 3 - Good Health and Well-being Ovarian cancer Genetics biochemistry Humans human CELL Polymorphism GENOME-WIDE ASSOCIATION medicine (all) Retrospective Studies Cancer och onkologi Prevention Mutació (Biologia) Biology and Life Sciences Molecular SWE-BRCA BRCA1 medicine.disease BRCA2 POLYMORPHISM Genes Genetic Loci Cancer and Oncology Mutation U.S. Gov't Bioinformatics medicine.disease_cause 3123 Gynaecology and paediatrics Tubulin Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14] ELEMENTS 2.1 Biological and endogenous factors CD44 Non-U.S. Gov't Aurora Kinase A Likelihood Functions Multidisciplinary Research Support Non-U.S. Gov't agricultural and biological sciences (all) genetics and molecular biology (all) BCFR Nuclear Proteins Single Nucleotide Mammary Glands SURVIVAL kConFab Investigators Female Microtubule-Associated Proteins Research Article Antigens CD44 aurora kinase A breast neoplasms carcinogenesis cell cycle proteins estrogen receptor alpha evolution molecular extracellular matrix proteins female genetic loci genetic predisposition to disease humans likelihood functions mammary glands human microtubule-associated proteins nuclear proteins polymorphism retrospective studies tubulin genes BRCA1 genes BRCA2 mutation biochemistry genetics and molecular biology (all) SUSCEPTIBILITY LOCI General Science & Technology 3122 Cancers Breast Neoplasms Biology Research Support Polymorphism Single Nucleotide N.I.H GENETIC INTERACTION NETWORKS Càncer de mama EXPRESSION SIGNATURE Amino acid sequence Research Support N.I.H. Extramural Internal medicine Seqüència d'aminoàcids evolution Genetic variation Journal Article medicine Genetic Predisposition to Disease ddc:610 molecular Antigens Mammary Glands Human ddc:611 Intramural Estrogen Receptor alpha Extramural Mutation (Biology) Research Support N.I.H. Intramural 3111 Biomedicine GEMO Research Support U.S. Gov't Non-P.H.S |
| Zdroj: | Recercat. Dipósit de la Recerca de Catalunya instname Blanco, I, Kuchenbaecker, K, Cuadras, D, Wang, X, Barrowdale, D, de Garibay, G R, Librado, P, Sánchez-Gracia, A, Rozas, J, Bonifaci, N, McGuffog, L, Pankratz, V S, Islam, A, Mateo, F, Berenguer, A, Petit, A, Català, I, Brunet, J, Feliubadaló, L, Tornero, E, Benítez, J, Osorio, A, Cajal, T R Y, Nevanlinna, H, Aittomäki, K, Arun, B K, Toland, A E, Karlan, B Y, Walsh, C, Lester, J, Greene, M H, Mai, P L, Nussbaum, R L, Andrulis, I L, Domchek, S M, Nathanson, K L, Rebbeck, T R, Barkardottir, R B, Jakubowska, A, Lubinski, J, Durda, K, Jaworska-Bieniek, K, Claes, K, Van Maerken, T, Díez, O, Hansen, T V, Gerdes, A-M, Bojesen, A, Thomassen, M, Kruse, T A & Teixeira 2015, ' Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers ', PLOS ONE, vol. 10, no. 4, e0120020 . https://doi.org/10.1371/journal.pone.0120020 PLoS ONE, 10(4):e0120020. PUBLIC LIBRARY SCIENCE PLoS ONE, 10(4):e0120020. Public Library of Science PLoS One r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau Blanco, I, Kuchenbaecker, K, Cuadras, D, Wang, X S, Barrowdale, D, Garibay, G R, Librado, P, Sanchez-Gracia, A, Rozas, J, Bonifaci, N, McGuffog, L, Pankratz, V S, Islam, A, Mateo, F, Berenguer, A, Petit, A, Catala, I, Brunet, J, Feliubadalo, L, Tornero, E, Benitez, J, Osorio, A, Cajal, T R Y, Nevanlinna, H, Aittomaki, K, Arun, B K, Toland, A E, Karlan, B Y, Walsh, C, Lester, J, Greene, M H, Mai, P L, Nussbaum, R L, Andrulis, I L, Domchek, S M, Nathanson, K L, Rebbeck, T R, Barkardottir, R B, Jakubowska, A, Lubinski, J, Durda, K, Jaworska-Bieniek, K, Claes, K, Van Maerken, T, Diez, O, Hansen, T V, Jonson, L, Gerdes, A M, Ejlertsen, B, de la Hoya, M, Caldees, T, Dunning, A M, Oliver, C, Fineberg, E, Cook, M, Peock, S, McCann, E, Murray, A, Jacobs, C, Pichert, G, Lalloo, F, Chu, C, Dorkins, H, Paterson, J, Ong, K R, Teixeira, M R, Hogervorst, F B L, van der Hout, A H, Seynaeve, C, van der Luijt, R B, Ligtenberg, M J L, Devilee, P, Wijnen, J T, Rookus, M A, Meijers-Heijboer, E J, Blok, M J, van den Ouweland, A M W, Aalfs, C M, Rodriguez, G C, Phillips, K A A, Piedmonte, M, Nerenstone, S R, Bae-Jump, V L, O'Malley, D M, Ratner, E S, Schmutzler, R K, Wappenschmidt, B, Rhiem, K, Engel, C, Meindl, A, Ditsch, N, Arnold, N, Plendl, H J, Niederacher, D, Sutter, C, Wang-Gohrke, S, Steinemann, D, Preisler-Adams, S, Antoniou, A C & Pujana, M A 2015, ' Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers ', PLoS ONE, vol. 10, no. 4, e0120020 . https://doi.org/10.1371/journal.pone.0120020 PLoS One (print), 10(4). Public Library of Science Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid Consejería de Sanidad de la Comunidad de Madrid PLoS ONE; 10(4), no e0120020 (2015) Blanco, I, Kuchenbaecker, K, Cuadras, D, Wang, X, Barrowdale, D, de Garibay, G R, Librado, P, Sánchez-Gracia, A, Rozas, J, Bonifaci, N, McGuffog, L, Pankratz, V S, Islam, A, Mateo, F, Berenguer, A, Petit, A, Català, I, Brunet, J, Feliubadaló, L, Tornero, E, Benítez, J, Osorio, A, Cajal, T R Y, Nevanlinna, H, Aittomäki, K, Arun, B K, Toland, A E, Karlan, B Y, Walsh, C, Lester, J, Greene, M H, Mai, P L, Nussbaum, R L, Andrulis, I L, Domchek, S M, Nathanson, K L, Rebbeck, T R, Barkardottir, R B, Jakubowska, A, Lubinski, J, Durda, K, Jaworska-Bieniek, K, Claes, K, Van Maerken, T, Díez, O, Hansen, T V, Bojesen, A, Pedersen, I S, Sunde, L, Jensen, U B & Teixeira 2015, ' Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers ', PLOS ONE, vol. 10, no. 4, pp. e0120020 . https://doi.org/10.1371/journal.pone.0120020 PLoS ONE, 10(4) PloS one, vol 10, iss 4 PLOS ONE, 10(4):e0120020. Public Library of Science PLoS ONE PLoS One, 10, 4 Blanco, I, Kuchenbaecker, K, Cuadras, D, Wang, X, Barrowdale, D, de Garibay, G R, Librado, P, Sánchez-Gracia, A, Rozas, J, Bonifaci, N, McGuffog, L, Pankratz, V S, Islam, A, Mateo, F, Berenguer, A, Petit, A, Català, I, Brunet, J, Feliubadaló, L, Tornero, E, Benítez, J, Osorio, A, Cajal, T R Y, Nevanlinna, H, Aittomäki, K, Arun, B K, Toland, A E, Karlan, B Y, Walsh, C, Lester, J, Greene, M H, Mai, P L, Nussbaum, R L, Andrulis, I L, Domchek, S M, Nathanson, K L, Rebbeck, T R, Barkardottir, R B, Jakubowska, A, Lubinski, J, Durda, K, Jaworska-Bieniek, K, Claes, K, Van Maerken, T, Díez, O, Hansen, T V, Jønson, L, Gerdes, A-M, Ejlertsen, B, Pedersen, I S & Teixeira 2015, ' Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers ', PLOS ONE, vol. 10, no. 4, pp. e0120020 . https://doi.org/10.1371/journal.pone.0120020 Dipòsit Digital de Documents de la UAB Universitat Autònoma de Barcelona PLoS ONE, 10(4). Public Library of Science Dipòsit Digital de la UB Universidad de Barcelona PLoS ONE, Vol 10, Iss 4, p e0120020 (2015) PLoS ONE [E], 10(4). Public Library of Science PLOS ONE PLoS One, 10 |
| ISSN: | 1932-6203 |
| DOI: | 10.1371/journal.pone.0120020 |
| Popis: | While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be associated with risk of breast cancer in BRCA1 mutation carriers. Following on these observations, we further assessed the link between the AURKA-HMMR-TPX2-TUBG1 functional module and risk of breast cancer in BRCA1 or BRCA2 mutation carriers. Forty-one single nucleotide polymorphisms (SNPs) were genotyped in 15,252 BRCA1 and 8,211 BRCA2 mutation carriers and subsequently analyzed using a retrospective likelihood approach. The association of HMMR rs299290 with breast cancer risk in BRCA1 mutation carriers was confirmed: per-allele hazard ratio (HR) = 1.10, 95% confidence interval (CI) 1.04 - 1.15, p = 1.9 x 10(-4) (false discovery rate (FDR)-adjusted p = 0.043). Variation in CSTF1, located next to AURKA, was also found to be associated with breast cancer risk in BRCA2 mutation carriers: rs2426618 per-allele HR = 1.10, 95% CI 1.03 - 1.16, p = 0.005 (FDR-adjusted p = 0.045). Assessment of pairwise interactions provided suggestions (FDR-adjusted p(interaction) values greater than 0.05) for deviations from the multiplicative model for rs299290 and CSTF1 rs6064391, and rs299290 and TUBG1 rs11649877 in both BRCA1 and BRCA2 mutation carriers. Following these suggestions, the expression of HMMR and AURKA or TUBG1 in sporadic breast tumors was found to potentially interact, influencing patients survival. Together, the results of this study support the hypothesis of a causative link between altered function of AURKA-HMMR-TPX2-TUBG1 and breast carcinogenesis in BRCA1/2 mutation carriers. Funding Agencies|National Cancer Institute [UM1 CA164920]; Lithuania (BFBOCC-LT): Research Council of Lithuania grant [LIG-07/2012]; Hereditary Cancer Association (Paveldimo vezio asociacija); LSC grant [10.0010.08]; ESF [2009/0220/1DP/1.1.1.2.0/09/APIA/VIAA/016]; Liepajas municipal council; Cancer Association of South Africa (CANSA); Morris and Horowitz Familes Endowed Professorship; NEYE Foundation; Spanish Association against Cancer [AECC08, RTICC 06/0020/1060, FISPI08/1120]; Mutua Madrilena Foundation (FMMA); COH-CCGCRN: City of Hope Clinical Cancer Genetics Community Network from the National Cancer Institute and the Office of the Director, National Institutes of Health; Hereditary Cancer Research Registry from the National Cancer Institute and the Office of the Director, National Institutes of Health [RC4CA153828]; Fondazione IRCCS Istituto Nazionale Tumori; Cancer Research-United Kingdom grant [C12292/A11174, C1287/ A10118]; NHMRC Program Grant; DKFZ; European Union (European Social Fund-ESF); Greek national funds through the Operational Program "Education and Lifelong Learning" of the National Strategic Reference Framework (NSRF)-Research Funding Program of the General Secretariat for Research and Technology: ARISTEIA; European Social Fund; Cancer Research United Kingdom Grants [C1287/A10118, C1287/A11990]; National Institute of Health Research (NIHR) grant; NIHR grant; Royal Marsden NHS Foundation Trust; Cancer Research United Kingdom Grant [C5047/A8385]; University of Kansas Cancer Center [P30 CA168524]; Kansas Bioscience Authority Eminent Scholar Program; Chancellors Distinguished Chair in Biomedical Sciences Professorship; AKG [5U01CA113916, R01CA140323]; German Cancer Aid [109076]; Center for Molecular Medicine Cologne (CMMC); Ligue National Contre le Cancer; Association "Le cancer du sein, parlonsen!" Award; Canadian Institutes of Health Research; Fund for Scientific Research Flanders (FWO); National Cancer Institute grant [CA 27469]; GOG Statistical and Data Center [CA 37517]; GOGs Cancer Prevention and Control Committee [CA 101165]; Intramural Research Program, NCI; ISCIII (Spain) [RD12/00369/0006, 12/00539]; European Regional Development FEDER funds; Helsinki University Central Hospital Research Fund; Academy of Finland [132473]; Finnish Cancer Society; Sigrid Juselius Foundation; Dutch Cancer Society grant [NKI1998-1854, NKI2004-3088, NKI2007-3756]; Netherlands Organization of Scientific Research [NWO 91109024]; Pink Ribbon grant [110005]; BBMRI grant [NWO 184.021.007/CP46]; Hungarian Research Grant [KTIA-OTKA CK-80745]; Norwegian EEA Financial Mechanism [HU0115/NA/2008-3/OP-9]; Spanish Ministry of Health ISCIII FIS [PI10/01422, PI12/01528, PI13/00285]; RTICC [RD12/0036/0008]; Ramon Areces (XV) Foundation; Eugenio Rodriguez Pascual Foundation; Roses Contra el Cancer Foundation; Spanish Association Against Cancer (AECC); AGAUR Generalitat de Catalunya [2009-SGR290, 2009-SGR293]; Polish Foundation of Science; Icelandic Association "Walking for Breast Cancer Research"; Nordic Cancer Union; Landspitali University Hospital Research Fund; Canadian Institutes of Health Research for the "CIHR Team in Familial Risks of Breast Cancer" program; Canadian Breast Cancer Research Alliance-grant [019511]; Ministry of Economic Development, Innovation and Export Trade-grant [PSR-SIIRI-701]; Ministero dellIstruzione, dellUniversita e della Ricerca and Ministero della Salute; Liga Portuguesa Contra o Cancro; National Breast Cancer Foundation; National Health and Medical Research Council (NHMRC); Queensland Cancer Fund; Cancer Council of New South Wales; Cancer Council of Victoria; Cancer Foundation of Western Australia; Cancer Councils of Tasmania; National Institutes of Health grant [CA128978]; NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer [CA116201]; United States Department of Defence Ovarian Cancer Idea award [W81XWH-10-1-0341]; Breast Cancer Research Foundation; Jewish General Hospital Weekend; Quebec Ministry of Economic Development, Innovation and Export Trade; Cancer Councils of South Australia; European Regional Development Fund; State Budget of the Czech Republic (RECAMO) [CZ.1.05/2.1.00/03.0101]; MH CZ-DRO (MMCI) [00209805]; Niehaus Family Genetics Research Fund; STARR Cancer Consortium Grant; NAROD [1R01 CA149429-01]; NCI Intramural Research Program, National Institutes of Health [NO2-CP-11019-50, N02-CP-65504]; Westat, Inc, Rockville, Maryland; Clalit Health Services in Israel; Israel Cancer Association; Breast Cancer Research Foundation (BCRF), New York; Russian Federation for Basic Research [11-04-00227, 12-04-00928, 12-04-01490]; Federal Agency for Science and Innovations, Russia [02.740.11.0780]; Canadian Institutes of Health Research for the "CIHR Team in Familial Risks of Breast Cancer" program and grant from the National Cancer Institute [UM1 CA164920]; Breast Cancer Family Registry (BCFR); United States Government or the BCFR; Ohio State University Comprehensive Cancer Center; Isreal cancer association; Israeli Inherited breast cancer consortium; Swedish Cancer Society; Ralph and Marion Falk Medical Research Trust; Entertainment Industry Fund National Womens Cancer Research Alliance; National Institutes of Health (NIH) [R01-CA102776, R01-CA083855]; Rooney Family Foundation; Susan G. Komen Foundation for the cure, Basser Research Center; American Cancer Society Early Detection Professorship [SIOP-06-258-01-COUN]; SAF2010-20493; [PBZ_KBN_122/P05/2004] |
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