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1. EAU–ESMO consensus statements on the management of advanced and variant bladder cancer—an international collaborative multi-stakeholder effort: under the auspices of the EAU and ESMO Guidelines Committees

Author

Horwich, A., Babjuk, M., Bellmunt, J., Bruins, H.M., De Reijke, T.M., De Santis, M., Gillessen, S., James, N., Maclennan, S., Palou, J., Powles, T., Ribal, M.J., Shariat, S.F., Van Der Kwast, T., Xylinas, E., Agarwal, N., Arends, T., Bamias, A., Birtle, A., Black, P.C., Bochner, B.H., Bolla, M., Boormans, J.L., Bossi, A., Briganti, A., Brummelhuis, I., Burger, M., Castellano, D., Cathomas, R., Chiti, A., Choudhury, A., Compérat, E., Crabb, S., Culine, S., De Bari, B., DeBlok, W., De Visschere, P.J.L., Decaestecker, K., Dimitropoulos, K., Dominguez-Escrig, J.L., Fanti, S., Fonteyne, V., Frydenberg, M., Futterer, J.J., Gakis, G., Geavlete, B., Gontero, P., Grubmüller, B., Hafeez, S., Hansel, D.E., Hartmann, A., Hayne, D., Henry, A.M., Hernandez, V., Herr, H., Herrmann, K., Hoskin, P., Huguet, J., Jereczek-Fossa, B.A., Jones, R., Kamat, A.M., Khoo, V., Kiltie, A.E., Krege, S., Ladoire, S., Lara, P.C., Leliveld, A., Linares-Espinós, E., Løgager, V., Lorch, A., Loriot, Y., Meijer, R., Carmen Mir, M., Moschini, M., Mostafid, H., Müller, A.-C., Müller, C.R., N’Dow, J., Necchi, A., Neuzillet, Y., Oddens, J.R., Oldenburg, J., Osanto, S., Oyen, W.J.G., Pacheco-Figueiredo, L., Pappot, H., Patel, M.I., Pieters, B.R., Plass, K., Remzi, M., Retz, M., Richenberg, J., Rink, M., Roghmann, F., Rosenberg, J.E., Rouprêt, M., Rouvière, O., Salembier, C., Salminen, A., Sargos, P., Sengupta, S., Sherif, A., Smeenk, R.J., Smits, A., Stenzl, A., Thalmann, G.N., Tombal, B., Turkbey, B., Vahr Lauridsen, S., Valdagni, R., Van Der Heijden, A.G., Van Poppel, H., Vartolomei, M.D., Veskimäe, E., Vilaseca, A., Vives Rivera, F.A., Wiegel, T., Wiklund, P., Williams, A., Zigeuner, R., and Witjes, J.A.

Published
2019
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2. Genome-wide Association Study of Bladder Cancer Reveals New Biological and Translational Insights.

Author

Koutros, S., Kiemeney, L.A., Pal Choudhury, P., Milne, R.L., Lopez de Maturana, E., Ye, Y., Joseph, V., Florez-Vargas, O., Dyrskjøt, L., Figueroa, J., Dutta, D., Giles, G.G., Hildebrandt, M.A.T., Offit, K., Kogevinas, M., Weiderpass, E., McCullough, M.L., Freedman, N.D., Albanes, D., Kooperberg, C., Cortessis, V.K., Karagas, M.R., Johnson, A., Schwenn, M.R., Baris, D., Furberg, H., Bajorin, D.F., Cussenot, O., Cancel-Tassin, G., Benhamou, S., Kraft, P., Porru, S., Carta, A., Bishop, T., Southey, M.C., Matullo, G., Fletcher, T., Kumar, R., Taylor, J.A., Lamy, P., Prip, F., Kalisz, M., Weinstein, S.J., Hengstler, J.G., Selinski, S., Harland, M., Teo, M., Kiltie, A.E., Tardón, A., Serra, C., Carrato, A., García-Closas, R., Lloreta, J., Schned, A., Lenz, P., Riboli, E., Brennan, P., Tjønneland, A., Otto, T., Ovsiannikov, D., Volkert, F., Vermeulen, S.H., Aben, K.K.H., Galesloot, T.E., Turman, C., Vivo, I. De, Giovannucci, E., Hunter, D.J., Hohensee, C., Hunt, R., Patel, A.V., Huang, W.Y., Thorleifsson, G., Gago-Dominguez, M., Amiano, P., Golka, K., Stern, M.C., Yan, W., Liu, J., Li, S.A., Katta, S., Hutchinson, A., Hicks, B., Wheeler, W.A., Purdue, M.P., McGlynn, K.A., Kitahara, C.M., Haiman, C.A., Greene, M.H., Rafnar, T., Chatterjee, N., Chanock, S.J., Wu, X., Real, F.X., Silverman, D.T., Garcia-Closas, M., Stefansson, K., Prokunina-Olsson, L., Malats, N., Rothman, N., Koutros, S., Kiemeney, L.A., Pal Choudhury, P., Milne, R.L., Lopez de Maturana, E., Ye, Y., Joseph, V., Florez-Vargas, O., Dyrskjøt, L., Figueroa, J., Dutta, D., Giles, G.G., Hildebrandt, M.A.T., Offit, K., Kogevinas, M., Weiderpass, E., McCullough, M.L., Freedman, N.D., Albanes, D., Kooperberg, C., Cortessis, V.K., Karagas, M.R., Johnson, A., Schwenn, M.R., Baris, D., Furberg, H., Bajorin, D.F., Cussenot, O., Cancel-Tassin, G., Benhamou, S., Kraft, P., Porru, S., Carta, A., Bishop, T., Southey, M.C., Matullo, G., Fletcher, T., Kumar, R., Taylor, J.A., Lamy, P., Prip, F., Kalisz, M., Weinstein, S.J., Hengstler, J.G., Selinski, S., Harland, M., Teo, M., Kiltie, A.E., Tardón, A., Serra, C., Carrato, A., García-Closas, R., Lloreta, J., Schned, A., Lenz, P., Riboli, E., Brennan, P., Tjønneland, A., Otto, T., Ovsiannikov, D., Volkert, F., Vermeulen, S.H., Aben, K.K.H., Galesloot, T.E., Turman, C., Vivo, I. De, Giovannucci, E., Hunter, D.J., Hohensee, C., Hunt, R., Patel, A.V., Huang, W.Y., Thorleifsson, G., Gago-Dominguez, M., Amiano, P., Golka, K., Stern, M.C., Yan, W., Liu, J., Li, S.A., Katta, S., Hutchinson, A., Hicks, B., Wheeler, W.A., Purdue, M.P., McGlynn, K.A., Kitahara, C.M., Haiman, C.A., Greene, M.H., Rafnar, T., Chatterjee, N., Chanock, S.J., Wu, X., Real, F.X., Silverman, D.T., Garcia-Closas, M., Stefansson, K., Prokunina-Olsson, L., Malats, N., and Rothman, N.

Abstract

01 juli 2023, Item does not contain fulltext, BACKGROUND: Genomic regions identified by genome-wide association studies (GWAS) for bladder cancer risk provide new insights into etiology. OBJECTIVE: To identify new susceptibility variants for bladder cancer in a meta-analysis of new and existing genome-wide genotype data. DESIGN, SETTING, AND PARTICIPANTS: Data from 32 studies that includes 13,790 bladder cancer cases and 343,502 controls of European ancestry were used for meta-analysis. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSES: Log-additive associations of genetic variants were assessed using logistic regression models. A fixed-effects model was used for meta-analysis of the results. Stratified analyses were conducted to evaluate effect modification by sex and smoking status. A polygenic risk score (PRS) was generated on the basis of known and novel susceptibility variants and tested for interaction with smoking. RESULTS AND LIMITATIONS: Multiple novel bladder cancer susceptibility loci (6p.22.3, 7q36.3, 8q21.13, 9p21.3, 10q22.1, 19q13.33) as well as improved signals in three known regions (4p16.3, 5p15.33, 11p15.5) were identified, bringing the number of independent markers at genome-wide significance (p < 5 × 10(-8)) to 24. The 4p16.3 (FGFR3/TACC3) locus was associated with a stronger risk for women than for men (p-interaction = 0.002). Bladder cancer risk was increased by interactions between smoking status and genetic variants at 8p22 (NAT2; multiplicative p value for interaction [p(M-I)] = 0.004), 8q21.13 (PAG1; p(M-I) = 0.01), and 9p21.3 (LOC107987026/MTAP/CDKN2A; p(M-I) = 0.02). The PRS based on the 24 independent GWAS markers (odds ratio per standard deviation increase 1.49, 95% confidence interval 1.44-1.53), which also showed comparable results in two prospective cohorts (UK Biobank, PLCO trial), revealed an approximately fourfold difference in the lifetime risk of bladder cancer according to the PRS (e.g., 1st vs 10th decile) for both smokers and nonsmokers. CONCLUSIONS: We report novel loci ass

Published
2023

6. Corrigendum to ‘EAU-ESMO Consensus Statements on the Management of Advanced and Variant Bladder Cancer—An International Collaborative Multistakeholder Effort Under the Auspices of the EAU-ESMO Guidelines Committees’ [European Urology 77 (2020) 223–250](S0302283819307638)(10.1016/j.eururo.2019.09.035)

Author

Witjes, J.A. Babjuk, M. Bellmunt, J. Bruins, H.M. De Reijke, T.M. De Santis, M. Gillessen, S. James, N. Maclennan, S. Palou, J. Powles, T. Ribal, M.J. Shariat, S.F. Van Der Kwast, T. Xylinas, E. Agarwal, N. Arends, T. Bamias, A. Birtle, A. Black, P.C. Bochner, B.H. Bolla, M. Boormans, J.L. Bossi, A. Briganti, A. Brummelhuis, I. Burger, M. Castellano, D. Cathomas, R. Chiti, A. Choudhury, A. Compérat, E. Crabb, S. Culine, S. De Bari, B. De Blok, W. De Visschere, P.J.L. Decaestecker, K. Dimitropoulos, K. Dominguez-Escrig, J.L. Fanti, S. Fonteyne, V. Frydenberg, M. Futterer, J.J. Gakis, G. Geavlete, B. Gontero, P. Grubmüller, B. Hafeez, S. Hansel, D.E. Hartmann, A. Hayne, D. Henry, A.M. Hernandez, V. Herr, H. Herrmann, K. Hoskin, P. Huguet, J. Jereczek-Fossa, B.A. Jones, R. Kamat, A.M. Khoo, V. Kiltie, A.E. Krege, S. Ladoire, S. Lara, P.C. Leliveld, A. Linares-Espinós, E. Løgager, V. Lorch, A. Loriot, Y. Meijer, R. Mir, M.C. Moschini, M. Mostafid, H. Müller, A.-C. Müller, C.R. N'Dow, J. Necchi, A. Neuzillet, Y. Oddens, J.R. Oldenburg, J. Osanto, S. Oyen, W.J.G. Pacheco-Figueiredo, L. Pappot, H. Patel, M.I. Pieters, B.R. Plass, K. Remzi, M. Retz, M. Richenberg, J. Rink, M. Roghmann, F. Rosenberg, J.E. Rouprêt, M. Rouvière, O. Salembier, C. Salminen, A. Sargos, P. Sengupta, S. Sherif, A. Smeenk, R.J. Smits, A. Stenzl, A. Thalmann, G.N. Tombal, B. Turkbey, B. Lauridsen, S.V. Valdagni, R. Van Der Heijden, A.G. Van Poppel, H. Vartolomei, M.D. Veskimäe, E. Vilaseca, A. Rivera, F.A.V. Wiegel, T. Wiklund, P. Willemse, P.-P.M. Williams, A. Zigeuner, R. Horwich, A.

Abstract

The authors regret that a co-author was mistakenly missed from the authorship. The following co-author should have been included in the authorship: Peter-Paul M. Willemse Department of Oncological Urology, University Medical Center, Utrecht Cancer Center, Utrecht, The Netherlands © 2019 European Society of Medical Oncology and European Association of Urology

Published
2020

7. EAU–ESMO consensus statements on the management of advanced and variant bladder cancer—an international collaborative multi-stakeholder effort: under the auspices of the EAU and ESMO Guidelines Committees

Author

Horwich, A. Babjuk, M. Bellmunt, J. Bruins, H.M. De Reijke, T.M. De Santis, M. Gillessen, S. James, N. Maclennan, S. Palou, J. Powles, T. Ribal, M.J. Shariat, S.F. Van Der Kwast, T. Xylinas, E. Agarwal, N. Arends, T. Bamias, A. Birtle, A. Black, P.C. Bochner, B.H. Bolla, M. Boormans, J.L. Bossi, A. Briganti, A. Brummelhuis, I. Burger, M. Castellano, D. Cathomas, R. Chiti, A. Choudhury, A. Compérat, E. Crabb, S. Culine, S. De Bari, B. DeBlok, W. De Visschere, P.J.L. Decaestecker, K. Dimitropoulos, K. Dominguez-Escrig, J.L. Fanti, S. Fonteyne, V. Frydenberg, M. Futterer, J.J. Gakis, G. Geavlete, B. Gontero, P. Grubmüller, B. Hafeez, S. Hansel, D.E. Hartmann, A. Hayne, D. Henry, A.M. Hernandez, V. Herr, H. Herrmann, K. Hoskin, P. Huguet, J. Jereczek-Fossa, B.A. Jones, R. Kamat, A.M. Khoo, V. Kiltie, A.E. Krege, S. Ladoire, S. Lara, P.C. Leliveld, A. Linares-Espinós, E. Løgager, V. Lorch, A. Loriot, Y. Meijer, R. Carmen Mir, M. Moschini, M. Mostafid, H. Müller, A.-C. Müller, C.R. N'Dow, J. Necchi, A. Neuzillet, Y. Oddens, J.R. Oldenburg, J. Osanto, S. Oyen, W.J.G. Pacheco-Figueiredo, L. Pappot, H. Patel, M.I. Pieters, B.R. Plass, K. Remzi, M. Retz, M. Richenberg, J. Rink, M. Roghmann, F. Rosenberg, J.E. Rouprêt, M. Rouvière, O. Salembier, C. Salminen, A. Sargos, P. Sengupta, S. Sherif, A. Smeenk, R.J. Smits, A. Stenzl, A. Thalmann, G.N. Tombal, B. Turkbey, B. Vahr Lauridsen, S. Valdagni, R. Van Der Heijden, A.G. Van Poppel, H. Vartolomei, M.D. Veskimäe, E. Vilaseca, A. Vives Rivera, F.A. Wiegel, T. Wiklund, P. Williams, A. Zigeuner, R. Witjes, J.A.

Subjects
education
Abstract

Background: Although guidelines exist for advanced and variant bladder cancer management, evidence is limited/conflicting in some areas and the optimal approach remains controversial. Objective: To bring together a large multidisciplinary group of experts to develop consensus statements on controversial topics in bladder cancer management. Design: A steering committee compiled proposed statements regarding advanced and variant bladder cancer management which were assessed by 113 experts in a Delphi survey. Statements not reaching consensus were reviewed; those prioritised were revised by a panel of 45 experts before voting during a consensus conference. Setting: Online Delphi survey and consensus conference. Participants: The European Association of Urology (EAU), the European Society for Medical Oncology (ESMO), experts in bladder cancer management. Outcome measurements and statistical analysis: Statements were ranked by experts according to their level of agreement: 1–3 (disagree), 4–6 (equivocal), 7–9 (agree). A priori (level 1) consensus was defined as ≥70% agreement and ≤15% disagreement, or vice versa. In the Delphi survey, a second analysis was restricted to stakeholder group(s) considered to have adequate expertise relating to each statement (to achieve level 2 consensus). Results and limitations: Overall, 116 statements were included in the Delphi survey. Of these, 33 (28%) statements achieved level 1 consensus and 49 (42%) statements achieved level 1 or 2 consensus. At the consensus conference, 22 of 27 (81%) statements achieved consensus. These consensus statements provide further guidance across a broad range of topics, including the management of variant histologies, the role/limitations of prognostic biomarkers in clinical decision making, bladder preservation strategies, modern radiotherapy techniques, the management of oligometastatic disease and the evolving role of checkpoint inhibitor therapy in metastatic disease. Conclusions: These consensus statements provide further guidance on controversial topics in advanced and variant bladder cancer management until a time where further evidence is available to guide our approach. © 2019 European Society for Medical Oncology

Published
2019

11. Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of European ancestry

Author

Figueroa, J.D., Middlebrooks, C.D., Banday, A.R., Ye, Y., Garcia-Closas, M., Chatterjee, N., Koutros, S., Kiemeney, L.A., Rafnar, T., Bishop, T., Furberg, H., Matullo, G., Golka, K., Gago-Dominguez, M., Taylor, J.A., Fletcher, T., Siddiq, A., Cortessis, V.K., Kooperberg, C., Cussenot, O., Benhamou, S., Prescott, J., Porru, S., Dinney, C.P., Malats, N., Baris, D., Purdue, M.P., Jacobs, E.J., Albanes, D., Wang, Z., Chung, C.C., Vermeulen, S.H., Aben, K.K.H., Galesloot, T.E., Thorleifsson, G., Sulem, P., Stefansson, K., Kiltie, A.E., Harland, M., Teo, M., Offit, K., Vijai, J., Bajorin, D., Kopp, R., Fiorito, G., Guarrera, S., Sacerdote, C., Selinski, S., Hengstler, J.G., Gerullis, H., Ovsiannikov, D., Blaszkewicz, M., Castelao, J.E., Calaza, M., Martinez, M.E., Cordeiro, P., Xu, Z., Panduri, V., Kumar, R., Gurzau, E, Koppova, K., Bueno-de-Mesquita, H.B., Ljungberg, B., Clavel-Chapelon, F., Weiderpass, E., Krogh, V., Dorronsoro, M., Travis, R.C., Tjonneland, A., Brennan, P., Chang-Claude, J., Riboli, E., Conti, D., Stern, M.C., Pike, M.C., Berg, D., Yuan, J.M., Hohensee, C., Jeppson, R.P., Cancel-Tassin, G., Roupret, M., Comperat, E., Turman, C., Vivo, I. De, Giovannucci, E., Hunter, D.J., Kraft, P., Lindstrom, S., Carta, A., Pavanello, S., Arici, C., Mastrangelo, G., Kamat, A.M., Zhang, L., Gong, Y., Pu, X., Hutchinson, A., Burdett, L., Wheeler, W.A., Karagas, M.R., et al., Figueroa, J.D., Middlebrooks, C.D., Banday, A.R., Ye, Y., Garcia-Closas, M., Chatterjee, N., Koutros, S., Kiemeney, L.A., Rafnar, T., Bishop, T., Furberg, H., Matullo, G., Golka, K., Gago-Dominguez, M., Taylor, J.A., Fletcher, T., Siddiq, A., Cortessis, V.K., Kooperberg, C., Cussenot, O., Benhamou, S., Prescott, J., Porru, S., Dinney, C.P., Malats, N., Baris, D., Purdue, M.P., Jacobs, E.J., Albanes, D., Wang, Z., Chung, C.C., Vermeulen, S.H., Aben, K.K.H., Galesloot, T.E., Thorleifsson, G., Sulem, P., Stefansson, K., Kiltie, A.E., Harland, M., Teo, M., Offit, K., Vijai, J., Bajorin, D., Kopp, R., Fiorito, G., Guarrera, S., Sacerdote, C., Selinski, S., Hengstler, J.G., Gerullis, H., Ovsiannikov, D., Blaszkewicz, M., Castelao, J.E., Calaza, M., Martinez, M.E., Cordeiro, P., Xu, Z., Panduri, V., Kumar, R., Gurzau, E, Koppova, K., Bueno-de-Mesquita, H.B., Ljungberg, B., Clavel-Chapelon, F., Weiderpass, E., Krogh, V., Dorronsoro, M., Travis, R.C., Tjonneland, A., Brennan, P., Chang-Claude, J., Riboli, E., Conti, D., Stern, M.C., Pike, M.C., Berg, D., Yuan, J.M., Hohensee, C., Jeppson, R.P., Cancel-Tassin, G., Roupret, M., Comperat, E., Turman, C., Vivo, I. De, Giovannucci, E., Hunter, D.J., Kraft, P., Lindstrom, S., Carta, A., Pavanello, S., Arici, C., Mastrangelo, G., Kamat, A.M., Zhang, L., Gong, Y., Pu, X., Hutchinson, A., Burdett, L., Wheeler, W.A., Karagas, M.R., and et al.

Abstract

Contains fulltext : 167299.pdf (publisher's version ) (Closed access), Candidate gene and genome-wide association studies (GWAS) have identified 15 independent genomic regions associated with bladder cancer risk. In search for additional susceptibility variants, we followed up on four promising single-nucleotide polymorphisms (SNPs) that had not achieved genome-wide significance in 6911 cases and 11 814 controls (rs6104690, rs4510656, rs5003154 and rs4907479, P < 1 x 10(-6)), using additional data from existing GWAS datasets and targeted genotyping for studies that did not have GWAS data. In a combined analysis, which included data on up to 15 058 cases and 286 270 controls, two SNPs achieved genome-wide statistical significance: rs6104690 in a gene desert at 20p12.2 (P = 2.19 x 10(-11)) and rs4907479 within the MCF2L gene at 13q34 (P = 3.3 x 10(-10)). Imputation and fine-mapping analyses were performed in these two regions for a subset of 5551 bladder cancer cases and 10 242 controls. Analyses at the 13q34 region suggest a single signal marked by rs4907479. In contrast, we detected two signals in the 20p12.2 region-the first signal is marked by rs6104690, and the second signal is marked by two moderately correlated SNPs (r(2) = 0.53), rs6108803 and the previously reported rs62185668. The second 20p12.2 signal is more strongly associated with the risk of muscle-invasive (T2-T4 stage) compared with non-muscle-invasive (Ta, T1 stage) bladder cancer (case-case P

Published
2016

12. Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

Author

Cazier, J.B., Rao, S.R., McLean, C.M., Walker, A.K., Wright, B.J., Jaeger, E.E.M., Kartsonaki, C., Marsden, L., Yau, C., Camps, C., Kaisaki, P., Consortium, O., Taylor, J., Catto, J.W., Tomlinson, I.P.M., Kiltie, A.E., and Hamdy, F.C.

Abstract

Bladder cancers are a leading cause of death from malignancy. Molecular markers might predict disease progression and behaviour more accurately than the available prognostic factors. Here we use whole-genome sequencing to identify somatic mutations and chromosomal changes in 14 bladder cancers of different grades and stages. As well as detecting the known bladder cancer driver mutations, we report the identification of recurrent protein-inactivating mutations in CDKN1A and FAT1. The former are not mutually exclusive with TP53 mutations or MDM2 amplification, showing that CDKN1A dysfunction is not simply an alternative mechanism for p53 pathway inactivation. We find strong positive associations between higher tumour stage/grade and greater clonal diversity, the number of somatic mutations and the burden of copy number changes. In principle, the identification of sub-clones with greater diversity and/or mutation burden within early-stage or low-grade tumours could identify lesions with a high risk of invasive progression.

Published
2014

14. Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer

Author

Rafnar, T., Sulem, P., Thorleifsson, G., Vermeulen, S., Helgason, H., Saemundsdottir, J., Gudjonsson, S.A., Sigurdsson, A., Stacey, S.N., Gudmundsson, J., Johannsdottir, H., Alexiusdottir, K., Petursdottir, V., Nikulasson, S., Geirsson, G., Jonsson, T., Aben, K.K.H., Grotenhuis, A.J., Verhaegh, G.W.C.T., Dudek, A.M.D., Witjes, J.A., Heijden, A.G. van der, Vrieling, A., Galesloot, T.E., Juan, A. de, Panadero, A., Rivera, F., Hurst, C., Bishop, D.T., Sak, S.C., Choudhury, A., Teo, M.T., Arici, C., Carta, A., Toninelli, E., Verdier, P. de, Rudnai, P., Gurzau, E, Koppova, K., Keur, K.A. van der, Lurkin, I., Goossens, M., Kellen, E., Guarrera, S., Russo, A., Critelli, R., Sacerdote, C., Vineis, P., Krucker, C., Zeegers, M.P., Gerullis, H., Ovsiannikov, D., Volkert, F., Hengstler, J.G., Selinski, S., Magnusson, O.T., Masson, G., Kong, A., Gudbjartsson, D., Lindblom, A., Zwarthoff, E., Porru, S., Golka, K., Buntinx, F., Matullo, G., Kumar, R., Mayordomo, J.I., Steineck, D.G., Kiltie, A.E., Jonsson, E., Radvanyi, F., Knowles, M.A., Thorsteinsdottir, U., Kiemeney, B., Stefansson, K., Rafnar, T., Sulem, P., Thorleifsson, G., Vermeulen, S., Helgason, H., Saemundsdottir, J., Gudjonsson, S.A., Sigurdsson, A., Stacey, S.N., Gudmundsson, J., Johannsdottir, H., Alexiusdottir, K., Petursdottir, V., Nikulasson, S., Geirsson, G., Jonsson, T., Aben, K.K.H., Grotenhuis, A.J., Verhaegh, G.W.C.T., Dudek, A.M.D., Witjes, J.A., Heijden, A.G. van der, Vrieling, A., Galesloot, T.E., Juan, A. de, Panadero, A., Rivera, F., Hurst, C., Bishop, D.T., Sak, S.C., Choudhury, A., Teo, M.T., Arici, C., Carta, A., Toninelli, E., Verdier, P. de, Rudnai, P., Gurzau, E, Koppova, K., Keur, K.A. van der, Lurkin, I., Goossens, M., Kellen, E., Guarrera, S., Russo, A., Critelli, R., Sacerdote, C., Vineis, P., Krucker, C., Zeegers, M.P., Gerullis, H., Ovsiannikov, D., Volkert, F., Hengstler, J.G., Selinski, S., Magnusson, O.T., Masson, G., Kong, A., Gudbjartsson, D., Lindblom, A., Zwarthoff, E., Porru, S., Golka, K., Buntinx, F., Matullo, G., Kumar, R., Mayordomo, J.I., Steineck, D.G., Kiltie, A.E., Jonsson, E., Radvanyi, F., Knowles, M.A., Thorsteinsdottir, U., Kiemeney, B., and Stefansson, K.

Abstract

Contains fulltext : 138103.pdf (Publisher’s version ) (Closed access), Genome-wide association studies (GWAS) of urinary bladder cancer (UBC) have yielded common variants at 12 loci that associate with risk of the disease. We report here the results of a GWAS of UBC including 1670 UBC cases and 90 180 controls, followed by replication analysis in additional 5266 UBC cases and 10 456 controls. We tested a dataset containing 34.2 million variants, generated by imputation based on whole-genome sequencing of 2230 Icelanders. Several correlated variants at 20p12, represented by rs62185668, show genome-wide significant association with UBC after combining discovery and replication results (OR = 1.19, P = 1.5 x 10(-11) for rs62185668-A, minor allele frequency = 23.6%). The variants are located in a non-coding region approximately 300 kb upstream from the JAG1 gene, an important component of the Notch signaling pathways that may be oncogenic or tumor suppressive in several forms of cancer. Our results add to the growing number of UBC risk variants discovered through GWAS.

Published
2014

16. European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene

Author

Rafnar, T., Vermeulen, H.H.M., Sulem, P., Thorleifsson, G., Aben, K.K.H., Witjes, J.A., Grotenhuis, A.J., Verhaegh, G.W.C.T., Hulsbergen-van de Kaa, C.A., Besenbacher, S., Gudbjartsson, D., Stacey, S.N., Gudmundsson, J., Johannsdottir, H., Bjarnason, H., Zanon, C., Helgadottir, H., Jonasson, J.G., Tryggvadottir, L., Jonsson, E., Geirsson, G., Nikulasson, S., Petursdottir, V., Bishop, D.T., Chung-Sak, S., Choudhury, A., Elliott, F., Barrett, J.H., Knowles, M.A., Verdier, P. de, Ryk, C., Lindblom, A., Rudnai, P., Gurzau, E, Koppova, K., Vineis, P., Polidoro, S., Guarrera, S., Sacerdote, C., Panadero, A., Sanz-Velez, J.I., Sanchez, M., Valdivia, G., Garcia-Prats, M.D., Hengstler, J.G., Selinski, S., Gerullis, H., Ovsiannikov, D., Khezri, A., Aminsharifi, A., Malekzadeh, M., Berg, L.H. van den, Ophoff, R.A., Veldink, J.H., Zeegers, M.P., Kellen, E., Fostinelli, J., Andreoli, D., Arici, C., Porru, S., Buntinx, F., Ghaderi, A., Golka, K., Mayordomo, J.I., Matullo, G., Kumar, R., Steineck, G., Kiltie, A.E., Kong, A., Thorsteinsdottir, U., Stefansson, K., Kiemeney, L.A.L.M., Rafnar, T., Vermeulen, H.H.M., Sulem, P., Thorleifsson, G., Aben, K.K.H., Witjes, J.A., Grotenhuis, A.J., Verhaegh, G.W.C.T., Hulsbergen-van de Kaa, C.A., Besenbacher, S., Gudbjartsson, D., Stacey, S.N., Gudmundsson, J., Johannsdottir, H., Bjarnason, H., Zanon, C., Helgadottir, H., Jonasson, J.G., Tryggvadottir, L., Jonsson, E., Geirsson, G., Nikulasson, S., Petursdottir, V., Bishop, D.T., Chung-Sak, S., Choudhury, A., Elliott, F., Barrett, J.H., Knowles, M.A., Verdier, P. de, Ryk, C., Lindblom, A., Rudnai, P., Gurzau, E, Koppova, K., Vineis, P., Polidoro, S., Guarrera, S., Sacerdote, C., Panadero, A., Sanz-Velez, J.I., Sanchez, M., Valdivia, G., Garcia-Prats, M.D., Hengstler, J.G., Selinski, S., Gerullis, H., Ovsiannikov, D., Khezri, A., Aminsharifi, A., Malekzadeh, M., Berg, L.H. van den, Ophoff, R.A., Veldink, J.H., Zeegers, M.P., Kellen, E., Fostinelli, J., Andreoli, D., Arici, C., Porru, S., Buntinx, F., Ghaderi, A., Golka, K., Mayordomo, J.I., Matullo, G., Kumar, R., Steineck, G., Kiltie, A.E., Kong, A., Thorsteinsdottir, U., Stefansson, K., and Kiemeney, L.A.L.M.

Abstract

Contains fulltext : 97884.pdf (publisher's version ) (Closed access), Three genome-wide association studies in Europe and the USA have reported eight urinary bladder cancer (UBC) susceptibility loci. Using extended case and control series and 1000 Genomes imputations of 5 340 737 single-nucleotide polymorphisms (SNPs), we searched for additional loci in the European GWAS. The discovery sample set consisted of 1631 cases and 3822 controls from the Netherlands and 603 cases and 37 781 controls from Iceland. For follow-up, we used 3790 cases and 7507 controls from 13 sample sets of European and Iranian ancestry. Based on the discovery analysis, we followed up signals in the urea transporter (UT) gene SLC14A. The strongest signal at this locus was represented by a SNP in intron 3, rs17674580, that reached genome-wide significance in the overall analysis of the discovery and follow-up groups: odds ratio = 1.17, P = 7.6 x 10(-11). SLC14A1 codes for UTs that define the Kidd blood group and are crucial for the maintenance of a constant urea concentration gradient in the renal medulla and, through this, the kidney's ability to concentrate urine. It is speculated that rs17674580, or other sequence variants in LD with it, indirectly modifies UBC risk by affecting urine production. If confirmed, this would support the 'urogenous contact hypothesis' that urine production and voiding frequency modify the risk of UBC.

Published
2011

17. A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.

Author

Garcia-Closas, M., Chatterjee, N., Malats, N., Wu, X., Figueroa, J.D., Real, F.X., Berg, D.P.G. van den, Matullo, G., Baris, D., Thun, M., Kiemeney, L.A.L.M., Vilneis, P., De Vivo, I., Albanes, D., Purdue, M., Rafnar, T., Hildebrandt, M.A.T., Kiltie, A.E., Cussenot, O., Golka, K., Kumar, R., Taylor, J.A., Mayordomo, J.I., Jacobs, K.B., Kogevinas, M., Hutchinson, A., Wang, Z., Fu, Y., Prokunina-Olsson, L., Burdett, L., Yeager, M., Wheeler, W., Tardon, A., Serra, C., Carrato, A., Garcia-Closas, R., Lloreta, J., Johnson, A., Schwenn, M., Karagas, M.R., Schned, A., Andriole, G.L., Grubb, R., Black, A., Jacobs, E.J., Diver, W.R., Gapstur, S.M., Weinstein, S.J., Virtamo, J., Cortessis, V.K., Gago-Dominguez, M., Pike, M.C., Stern, M.C., Yuan, J.M., Hunter, D.J., McGrath, M., Dinney, C.P., Czerniak, B., Chen, M., Yang, H., Vermeulen, S., Aben, K.K.H., Witjes, J.A., Makkinje, R.R., Sulem, P., Besenbacher, S., Riboli, E., Brennan, P., Panico, S., Navarro, C, Allen, N.E., Bueno-De-Mesquita, H.B., Trichopoulos, D., Caporaso, N., Landi, M.T., Canzian, F., Ljungberg, B, Tjonneland, A., Clavel-Chapelon, F., Bishop, D.T., Teo, M.T., Knowles, M.A., Guarrera, S., Polidoro, S., Ricceri, F., Sacerdote, C., Allione, A., Cancel-Tassin, G., Selinski, S., Hengstler, J.G., Dietrich, H., Fletcher, T., Rudnai, P., Gurzau, E, Koppova, K., Bolick, S.C., Godfrey, A., Xu, Z., Garcia-Closas, M., Chatterjee, N., Malats, N., Wu, X., Figueroa, J.D., Real, F.X., Berg, D.P.G. van den, Matullo, G., Baris, D., Thun, M., Kiemeney, L.A.L.M., Vilneis, P., De Vivo, I., Albanes, D., Purdue, M., Rafnar, T., Hildebrandt, M.A.T., Kiltie, A.E., Cussenot, O., Golka, K., Kumar, R., Taylor, J.A., Mayordomo, J.I., Jacobs, K.B., Kogevinas, M., Hutchinson, A., Wang, Z., Fu, Y., Prokunina-Olsson, L., Burdett, L., Yeager, M., Wheeler, W., Tardon, A., Serra, C., Carrato, A., Garcia-Closas, R., Lloreta, J., Johnson, A., Schwenn, M., Karagas, M.R., Schned, A., Andriole, G.L., Grubb, R., Black, A., Jacobs, E.J., Diver, W.R., Gapstur, S.M., Weinstein, S.J., Virtamo, J., Cortessis, V.K., Gago-Dominguez, M., Pike, M.C., Stern, M.C., Yuan, J.M., Hunter, D.J., McGrath, M., Dinney, C.P., Czerniak, B., Chen, M., Yang, H., Vermeulen, S., Aben, K.K.H., Witjes, J.A., Makkinje, R.R., Sulem, P., Besenbacher, S., Riboli, E., Brennan, P., Panico, S., Navarro, C, Allen, N.E., Bueno-De-Mesquita, H.B., Trichopoulos, D., Caporaso, N., Landi, M.T., Canzian, F., Ljungberg, B, Tjonneland, A., Clavel-Chapelon, F., Bishop, D.T., Teo, M.T., Knowles, M.A., Guarrera, S., Polidoro, S., Ricceri, F., Sacerdote, C., Allione, A., Cancel-Tassin, G., Selinski, S., Hengstler, J.G., Dietrich, H., Fletcher, T., Rudnai, P., Gurzau, E, Koppova, K., Bolick, S.C., Godfrey, A., and Xu, Z.

Abstract

Contains fulltext : 88946.pdf (publisher's version ) (Closed access)

Published
2010

18. A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.

Author

Kiemeney, L.A.L.M., Sulem, P., Besenbacher, S., Vermeulen, S., Sigurdsson, A., Thorleifsson, G., Gudbjartsson, D.F., Stacey, S.N., Gudmundsson, J., Zanon, C., Kostic, J., Masson, G., Bjarnason, H., Palsson, S., Skarphedinsson, O.B., Gudjonsson, S.A., Witjes, J.A., Grotenhuis, A.J., Verhaegh, G.W.C.T., Bishop, D.T., Sak, S.C., Choudhury, A., Elliott, F., Barrett, J.H., Hurst, C.D., Verdier, P. de, Ryk, C., Rudnai, P., Gurzau, E, Koppova, K., Vineis, P., Polidoro, S., Guarrera, S., Sacerdote, C., Campagna, M., Placidi, D., Arici, C., Zeegers, M.P., Kellen, E., Gutierrez, B.S., Sanz-Velez, J.I., Sanchez-Zalabardo, M., Valdivia, G., Garcia-Prats, M.D., Hengstler, J.G., Blaszkewicz, M., Dietrich, H., Ophoff, R.A., Berg, L.H. van den, Alexiusdottir, K., Kristjansson, K., Geirsson, G., Nikulasson, S., Petursdottir, V., Kong, A., Thorgeirsson, T.E., Mungan, N.A., Lindblom, A., Es, M.A. van, Porru, S., Buntinx, F., Golka, K., Mayordomo, J.I., Kumar, R., Matullo, G., Steineck, G., Kiltie, A.E., Aben, K.K.H., Jonsson, E., Thorsteinsdottir, U., Knowles, M.A., Rafnar, T., Stefansson, K., Kiemeney, L.A.L.M., Sulem, P., Besenbacher, S., Vermeulen, S., Sigurdsson, A., Thorleifsson, G., Gudbjartsson, D.F., Stacey, S.N., Gudmundsson, J., Zanon, C., Kostic, J., Masson, G., Bjarnason, H., Palsson, S., Skarphedinsson, O.B., Gudjonsson, S.A., Witjes, J.A., Grotenhuis, A.J., Verhaegh, G.W.C.T., Bishop, D.T., Sak, S.C., Choudhury, A., Elliott, F., Barrett, J.H., Hurst, C.D., Verdier, P. de, Ryk, C., Rudnai, P., Gurzau, E, Koppova, K., Vineis, P., Polidoro, S., Guarrera, S., Sacerdote, C., Campagna, M., Placidi, D., Arici, C., Zeegers, M.P., Kellen, E., Gutierrez, B.S., Sanz-Velez, J.I., Sanchez-Zalabardo, M., Valdivia, G., Garcia-Prats, M.D., Hengstler, J.G., Blaszkewicz, M., Dietrich, H., Ophoff, R.A., Berg, L.H. van den, Alexiusdottir, K., Kristjansson, K., Geirsson, G., Nikulasson, S., Petursdottir, V., Kong, A., Thorgeirsson, T.E., Mungan, N.A., Lindblom, A., Es, M.A. van, Porru, S., Buntinx, F., Golka, K., Mayordomo, J.I., Kumar, R., Matullo, G., Steineck, G., Kiltie, A.E., Aben, K.K.H., Jonsson, E., Thorsteinsdottir, U., Knowles, M.A., Rafnar, T., and Stefansson, K.

Abstract

Contains fulltext : 87396.pdf (publisher's version ) (Closed access)

Published
2010

19. Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.

Author

Rafnar, T., Sulem, P., Stacey, S.N., Geller, F., Gudmundsson, J., Sigurdsson, A., Jakobsdottir, M., Helgadottir, H., Thorlacius, S., Aben, K.K.H., Blondal, T., Thorgeirsson, T.E., Thorleifsson, G., Kristjansson, K., Thorisdottir, K., Ragnarsson, R., Sigurgeirsson, B., Skuladottir, H., Gudbjartsson, T., Isaksson, H.J., Einarsson, G.V., Benediktsdottir, K.R., Agnarsson, B.A., Olafsson, K., Salvarsdottir, A., Bjarnason, H., Asgeirsdottir, M., Kristinsson, K.T., Matthiasdottir, S., Sveinsdottir, S.G., Polidoro, S., Hoiom, V., Botella-Estrada, R., Hemminki, K., Rudnai, P., Bishop, D.T., Campagna, M., Kellen, E., Zeegers, M.P., Verdier, P. de, Ferrer, A., Isla, D., Vidal, M.J., Andres, R., Saez, B., Juberias, P., Banzo, J., Navarrete, S., Tres, A., Kan, D., Lindblom, A., Gurzau, E, Koppova, K., Vegt, F. de, Schalken, J.A., Heijden, H.F.M. van der, Smit, H.J., Termeer, R.A., Oosterwijk, E., Hooij, O. van, Nagore, E., Porru, S., Steineck, G., Hansson, J., Buntinx, F., Catalona, W.J., Matullo, G., Vineis, P., Kiltie, A.E., Mayordomo, J.I., Kumar, R., Kiemeney, L.A.L.M., Frigge, M.L., Jonsson, T., Saemundsson, H., Barkardottir, R.B., Jonsson, E., Jonsson, S., Olafsson, J.H., Gulcher, J.R., Masson, G., Gudbjartsson, D.F., Kong, A., Thorsteinsdottir, U., Stefansson, K., Rafnar, T., Sulem, P., Stacey, S.N., Geller, F., Gudmundsson, J., Sigurdsson, A., Jakobsdottir, M., Helgadottir, H., Thorlacius, S., Aben, K.K.H., Blondal, T., Thorgeirsson, T.E., Thorleifsson, G., Kristjansson, K., Thorisdottir, K., Ragnarsson, R., Sigurgeirsson, B., Skuladottir, H., Gudbjartsson, T., Isaksson, H.J., Einarsson, G.V., Benediktsdottir, K.R., Agnarsson, B.A., Olafsson, K., Salvarsdottir, A., Bjarnason, H., Asgeirsdottir, M., Kristinsson, K.T., Matthiasdottir, S., Sveinsdottir, S.G., Polidoro, S., Hoiom, V., Botella-Estrada, R., Hemminki, K., Rudnai, P., Bishop, D.T., Campagna, M., Kellen, E., Zeegers, M.P., Verdier, P. de, Ferrer, A., Isla, D., Vidal, M.J., Andres, R., Saez, B., Juberias, P., Banzo, J., Navarrete, S., Tres, A., Kan, D., Lindblom, A., Gurzau, E, Koppova, K., Vegt, F. de, Schalken, J.A., Heijden, H.F.M. van der, Smit, H.J., Termeer, R.A., Oosterwijk, E., Hooij, O. van, Nagore, E., Porru, S., Steineck, G., Hansson, J., Buntinx, F., Catalona, W.J., Matullo, G., Vineis, P., Kiltie, A.E., Mayordomo, J.I., Kumar, R., Kiemeney, L.A.L.M., Frigge, M.L., Jonsson, T., Saemundsson, H., Barkardottir, R.B., Jonsson, E., Jonsson, S., Olafsson, J.H., Gulcher, J.R., Masson, G., Gudbjartsson, D.F., Kong, A., Thorsteinsdottir, U., and Stefansson, K.

Abstract

Contains fulltext : 81560.pdf (publisher's version ) (Closed access), The common sequence variants that have recently been associated with cancer risk are particular to a single cancer type or at most two. Following up on our genome-wide scan of basal cell carcinoma, we found that rs401681[C] on chromosome 5p15.33 satisfied our threshold for genome-wide significance (OR = 1.25, P = 3.7 x 10(-12)). We tested rs401681 for association with 16 additional cancer types in over 30,000 cancer cases and 45,000 controls and found association with lung cancer (OR = 1.15, P = 7.2 x 10(-8)) and urinary bladder, prostate and cervix cancer (ORs = 1.07-1.31, all P < 4 x 10(-4)). However, rs401681[C] seems to confer protection against cutaneous melanoma (OR = 0.88, P = 8.0 x 10(-4)). Notably, most of these cancer types have a strong environmental component to their risk. Investigation of the region led us to rs2736098[A], which showed stronger association with some cancer types. However, neither variant could fully account for the association of the other. rs2736098 corresponds to A305A in the telomerase reverse transcriptase (TERT) protein and rs401681 is in an intron of the CLPTM1L gene.

Published
2009

20. Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer.

Author

Wu, X., Ye, Y., Kiemeney, L.A.L.M., Sulem, P., Rafnar, T., Matullo, G., Seminara, D., Yoshida, T., Saeki, N., Andrew, A.S., Dinney, C.P., Czerniak, B., Zhang, Z.F., Kiltie, A.E., Bishop, D.T., Vineis, P., Porru, S., Buntinx, F., Kellen, E., Zeegers, M.P., Kumar, R., Rudnai, P., Gurzau, E, Koppova, K., Mayordomo, J.I., Sanchez, M., Saez, B., Lindblom, A., Verdier, P. de, Steineck, G., Mills, G.B., Schned, A., Guarrera, S., Polidoro, S., Chang, S.C., Lin, J., Chang, D.W., Hale, K.S., Majewski, T., Grossman, H.B., Thorlacius, S., Thorsteinsdottir, U., Aben, K.K.H., Witjes, J.A., Stefansson, K., Amos, C.I., Karagas, M.R., Gu, J., Wu, X., Ye, Y., Kiemeney, L.A.L.M., Sulem, P., Rafnar, T., Matullo, G., Seminara, D., Yoshida, T., Saeki, N., Andrew, A.S., Dinney, C.P., Czerniak, B., Zhang, Z.F., Kiltie, A.E., Bishop, D.T., Vineis, P., Porru, S., Buntinx, F., Kellen, E., Zeegers, M.P., Kumar, R., Rudnai, P., Gurzau, E, Koppova, K., Mayordomo, J.I., Sanchez, M., Saez, B., Lindblom, A., Verdier, P. de, Steineck, G., Mills, G.B., Schned, A., Guarrera, S., Polidoro, S., Chang, S.C., Lin, J., Chang, D.W., Hale, K.S., Majewski, T., Grossman, H.B., Thorlacius, S., Thorsteinsdottir, U., Aben, K.K.H., Witjes, J.A., Stefansson, K., Amos, C.I., Karagas, M.R., and Gu, J.

Abstract

Contains fulltext : 80627.pdf (publisher's version ) (Closed access), We conducted a genome-wide association study on 969 bladder cancer cases and 957 controls from Texas. For fast-track validation, we evaluated 60 SNPs in three additional US populations and validated the top SNP in nine European populations. A missense variant (rs2294008) in the PSCA gene showed consistent association with bladder cancer in US and European populations. Combining all subjects (6,667 cases, 39,590 controls), the overall P-value was 2.14 x 10(-10) and the allelic odds ratio was 1.15 (95% confidence interval 1.10-1.20). rs2294008 alters the start codon and is predicted to cause truncation of nine amino acids from the N-terminal signal sequence of the primary PSCA translation product. In vitro reporter gene assay showed that the variant allele significantly reduced promoter activity. Resequencing of the PSCA genomic region showed that rs2294008 is the only common missense SNP in PSCA. Our data identify rs2294008 as a new bladder cancer susceptibility locus.

Published
2009

21. Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.

Author

Kiemeney, L.A.L.M., Thorlacius, S., Sulem, P., Geller, F., Aben, K.K.H., Stacey, S.N., Gudmundsson, J., Jakobsdottir, M., Bergthorsson, J.T., Sigurdsson, A., Blondal, T., Witjes, J.A., Vermeulen, H.H.M., Hulsbergen-van de Kaa, C.A., Swinkels, D.W., Ploeg, M., Cornel, E.B., Vergunst, H., Thorgeirsson, T.E., Gudbjartsson, D.F., Gudjonsson, S.A., Thorleifsson, G., Kristinsson, K.T., Mouy, M., Snorradottir, S., Placidi, D., Campagna, M., Arici, C., Koppova, K., Gurzau, E, Rudnai, P., Kellen, E., Polidoro, S., Guarrera, S., Sacerdote, C., Sanchez, M., Saez, B., Valdivia, G., Ryk, C., Verdier, P. de, Lindblom, A., Golka, K., Bishop, D.T., Knowles, M.A., Nikulasson, S., Petursdottir, V., Jonsson, E., Geirsson, G., Kristjansson, B., Mayordomo, J.I., Steineck, G., Porru, S., Buntinx, F., Zeegers, M., Fletcher, T., Kumar, R., Matullo, G., Vineis, P., Kiltie, A.E., Gulcher, J.R., Thorsteinsdottir, U., Kong, A., Rafnar, T., Stefansson, K., Kiemeney, L.A.L.M., Thorlacius, S., Sulem, P., Geller, F., Aben, K.K.H., Stacey, S.N., Gudmundsson, J., Jakobsdottir, M., Bergthorsson, J.T., Sigurdsson, A., Blondal, T., Witjes, J.A., Vermeulen, H.H.M., Hulsbergen-van de Kaa, C.A., Swinkels, D.W., Ploeg, M., Cornel, E.B., Vergunst, H., Thorgeirsson, T.E., Gudbjartsson, D.F., Gudjonsson, S.A., Thorleifsson, G., Kristinsson, K.T., Mouy, M., Snorradottir, S., Placidi, D., Campagna, M., Arici, C., Koppova, K., Gurzau, E, Rudnai, P., Kellen, E., Polidoro, S., Guarrera, S., Sacerdote, C., Sanchez, M., Saez, B., Valdivia, G., Ryk, C., Verdier, P. de, Lindblom, A., Golka, K., Bishop, D.T., Knowles, M.A., Nikulasson, S., Petursdottir, V., Jonsson, E., Geirsson, G., Kristjansson, B., Mayordomo, J.I., Steineck, G., Porru, S., Buntinx, F., Zeegers, M., Fletcher, T., Kumar, R., Matullo, G., Vineis, P., Kiltie, A.E., Gulcher, J.R., Thorsteinsdottir, U., Kong, A., Rafnar, T., and Stefansson, K.

Abstract

Contains fulltext : 71044.pdf (publisher's version ) (Closed access), We conducted a genome-wide SNP association study on 1,803 urinary bladder cancer (UBC) cases and 34,336 controls from Iceland and The Netherlands and follow up studies in seven additional case-control groups (2,165 cases and 3,800 controls). The strongest association was observed with allele T of rs9642880 on chromosome 8q24, 30 kb upstream of MYC (allele-specific odds ratio (OR) = 1.22; P = 9.34 x 10(-12)). Approximately 20% of individuals of European ancestry are homozygous for rs9642880[T], and their estimated risk of developing UBC is 1.49 times that of noncarriers. No association was observed between UBC and the four 8q24 variants previously associated with prostate, colorectal and breast cancers, nor did rs9642880 associate with any of these three cancers. A weaker signal, but nonetheless of genome-wide significance, was captured by rs710521[A] located near TP63 on chromosome 3q28 (allele-specific OR = 1.19; P = 1. 15 x 10(-7)).

Published
2008

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