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2. Spatial transcriptomic clonal deconvolution identifies the lethal clone in Prostate Cancer (PCa) as defined by ability to metastasize to lymph nodes

Author

Yin, W., primary, Figiel, S., additional, He, M., additional, Teague, R., additional, Anbarasan, T., additional, Ranasinha, N., additional, Singh, R., additional, Poulouse, N., additional, Doultsinos, D., additional, Erickson, A., additional, Loda, M., additional, Verrill, C., additional, Colling, R., additional, Gill, P., additional, Bryant, R.J., additional, Cussenot, O., additional, Hamdy, F., additional, Woodcock, D., additional, Mills, I., additional, Lundeberg, J., additional, and Lamb, A., additional

Published
2024
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6. Associations of prostate cancer risk variants with disease aggressiveness: results of the NCI-SPORE Genetics Working Group analysis of 18,343 cases

Author

Helfand, BT, Roehl, KA, Cooper, PR, McGuire, BB, Fitzgerald, LM, Cancel-Tassin, G, Cornu, JN, Bauer, S, Van Blarigan, EL, Chen, X, Duggan, D, Ostrander, EA, Gwo-Shu, M, Zhang, ZF, Chang, SC, Jeong, S, Fontham, ETH, Smith, G, Mohler, JL, Berndt, SI, McDonnell, SK, Kittles, R, Rybicki, BA, Freedman, M, Kantoff, PW, Pomerantz, M, Breyer, JP, Smith, JR, Rebbeck, TR, Mercola, D, Isaacs, WB, Wiklund, F, Cussenot, O, Thibodeau, SN, Schaid, DJ, Cannon-Albright, L, Cooney, KA, Chanock, SJ, Stanford, JL, Chan, JM, Witte, J, Xu, J, Bensen, JT, Taylor, JA, and Catalona, WJ

Subjects
Genetics, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine, Genetics & Heredity
Abstract

Genetic studies have identified single nucleotide polymorphisms (SNPs) associated with the risk of prostate cancer (PC). It remains unclear whether such genetic variants are associated with disease aggressiveness. The NCI-SPORE Genetics Working Group retrospectively collected clinicopathologic information and genotype data for 36 SNPs which at the time had been validated to be associated with PC risk from 25,674 cases with PC. Cases were grouped according to race, Gleason score (Gleason ≤6, 7, ≥8) and aggressiveness (non-aggressive, intermediate, and aggressive disease). Statistical analyses were used to compare the frequency of the SNPs between different disease cohorts. After adjusting for multiple testing, only PC-risk SNP rs2735839 (G) was significantly and inversely associated with aggressive (OR = 0.77; 95 % CI 0.69–0.87) and high-grade disease (OR = 0.77; 95 % CI 0.68–0.86) in European men. Similar associations with aggressive (OR = 0.72; 95 % CI 0.58–0.89) and high-grade disease (OR = 0.69; 95 % CI 0.54–0.87) were documented in African-American subjects. The G allele of rs2735839 was associated with disease aggressiveness even at low PSA levels (

Published
2015

13. 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

14. Prognosis of Primary Papillary Ta Grade 3 Bladder Cancer in the Non-muscle-invasive Spectrum

Author

Beijert, I.J., Hentschel, A.E., Bründl, J., Compérat, E.M., Plass, K., Rodríguez, O., Subiela Henríquez, J.D., Hernández, V., Peña, E. de la, Alemany, I., Turturica, D., Pisano, F., Soria, F., Čapoun, O., Bauerová, L., Pešl, M., Bruins, H.M., Runneboom, W., Herdegen, S., Breyer, J., Brisuda, A., Calatrava, A., Rubio-Briones, J., Seles, M., Mannweiler, S., Bosschieter, J., Kusuma, V.R.M., Ashabere, D., Huebner, N., Cotte, J., Mertens, L.S., Claps, F., Masson-Lecomte, A., Liedberg, F., Cohen, D., Lunelli, L., Cussenot, O., Sheikh, S., Volanis, D., Côté, J.F., Rouprêt, M., Haitel, A., Shariat, S.F., Mostafid, A.H., Nieuwenhuijzen, J.A., Zigeuner, R., Dominguez-Escrig, J.L., Hacek, J., Zlotta, A.R., Burger, M., Evert, M., Hulsbergen-van de Kaa, C.A., Heijden, A.G. van der, Kiemeney, L.A.L.M., Soukup, V., Molinaro, L., Gontero, P., Llorente, C., Algaba, F., Palou, J., N'Dow, J., Ribal, M.J., Kwast, T.H. van der, Babjuk, M., Sylvester, R.J., Rhijn, B.W.G. van, Beijert, I.J., Hentschel, A.E., Bründl, J., Compérat, E.M., Plass, K., Rodríguez, O., Subiela Henríquez, J.D., Hernández, V., Peña, E. de la, Alemany, I., Turturica, D., Pisano, F., Soria, F., Čapoun, O., Bauerová, L., Pešl, M., Bruins, H.M., Runneboom, W., Herdegen, S., Breyer, J., Brisuda, A., Calatrava, A., Rubio-Briones, J., Seles, M., Mannweiler, S., Bosschieter, J., Kusuma, V.R.M., Ashabere, D., Huebner, N., Cotte, J., Mertens, L.S., Claps, F., Masson-Lecomte, A., Liedberg, F., Cohen, D., Lunelli, L., Cussenot, O., Sheikh, S., Volanis, D., Côté, J.F., Rouprêt, M., Haitel, A., Shariat, S.F., Mostafid, A.H., Nieuwenhuijzen, J.A., Zigeuner, R., Dominguez-Escrig, J.L., Hacek, J., Zlotta, A.R., Burger, M., Evert, M., Hulsbergen-van de Kaa, C.A., Heijden, A.G. van der, Kiemeney, L.A.L.M., Soukup, V., Molinaro, L., Gontero, P., Llorente, C., Algaba, F., Palou, J., N'Dow, J., Ribal, M.J., Kwast, T.H. van der, Babjuk, M., Sylvester, R.J., and Rhijn, B.W.G. van

Abstract

Contains fulltext : 294430.pdf (Publisher’s version ) (Open Access), BACKGROUND: Ta grade 3 (G3) non-muscle-invasive bladder cancer (NMIBC) is a relatively rare diagnosis with an ambiguous character owing to the presence of an aggressive G3 component together with the lower malignant potential of the Ta component. The European Association of Urology (EAU) NMIBC guidelines recently changed the risk stratification for Ta G3 from high risk to intermediate, high, or very high risk. However, prognostic studies on Ta G3 carcinomas are limited and inconclusive. OBJECTIVE: To evaluate the prognostic value of categorizing Ta G3 compared to Ta G2 and T1 G3 carcinomas. DESIGN, SETTING, AND PARTICIPANTS: Individual patient data for 5170 primary Ta-T1 bladder tumors from 17 hospitals were analyzed. Transurethral resection of the tumor was performed between 1990 and 2018. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Time to recurrence and time to progression were analyzed using cumulative incidence functions, log-rank tests, and multivariable Cox-regression models with interaction terms stratified by institution. RESULTS AND LIMITATIONS: Ta G3 represented 7.5% (387/5170) of Ta-T1 carcinomas of which 42% were classified as intermediate risk. Time to recurrence did not differ between Ta G3 and Ta G2 (p = 0.9) or T1 G3 (p = 0.4). Progression at 5 yr occurred for 3.6% (95% confidence interval [CI] 2.7-4.8%) of Ta G2, 13% (95% CI 9.3-17%) of Ta G3, and 20% (95% CI 17-23%) of T1 G3 carcinomas. Time to progression for Ta G3 was shorter than for Ta G2 (p < 0.001) and longer than for T1 G3 (p = 0.002). Patients with Ta G3 NMIBC with concomitant carcinoma in situ (CIS) had worse prognosis and a similar time to progression as for patients with T1 G3 NMIBC with CIS (p = 0.5). Multivariable analyses for recurrence and progression showed similar results. CONCLUSIONS: The prognosis of Ta G3 tumors in terms of progression appears to be in between that of Ta G2 and T1 G3. However, patients with Ta G3 NMIBC with concomitant CIS have worse prognosis that is compar

Published
2023

15. Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants.

Author

Wang, A, Shen, J, Rodriguez, AA, Saunders, EJ, Chen, F, Janivara, R, Darst, BF, Sheng, X, Xu, Y, Chou, AJ, Benlloch, S, Dadaev, T, Brook, MN, Plym, A, Sahimi, A, Hoffman, TJ, Takahashi, A, Matsuda, K, Momozawa, Y, Fujita, M, Laisk, T, Figuerêdo, J, Muir, K, Ito, S, Liu, X, Biobank Japan Project, Uchio, Y, Kubo, M, Kamatani, Y, Lophatananon, A, Wan, P, Andrews, C, Lori, A, Choudhury, PP, Schleutker, J, Tammela, TLJ, Sipeky, C, Auvinen, A, Giles, GG, Southey, MC, MacInnis, RJ, Cybulski, C, Wokolorczyk, D, Lubinski, J, Rentsch, CT, Cho, K, Mcmahon, BH, Neal, DE, Donovan, JL, Hamdy, FC, Martin, RM, Nordestgaard, BG, Nielsen, SF, Weischer, M, Bojesen, SE, Røder, A, Stroomberg, HV, Batra, J, Chambers, S, Horvath, L, Clements, JA, Tilly, W, Risbridger, GP, Gronberg, H, Aly, M, Szulkin, R, Eklund, M, Nordstrom, T, Pashayan, N, Dunning, AM, Ghoussaini, M, Travis, RC, Key, TJ, Riboli, E, Park, JY, Sellers, TA, Lin, H-Y, Albanes, D, Weinstein, S, Cook, MB, Mucci, LA, Giovannucci, E, Lindstrom, S, Kraft, P, Hunter, DJ, Penney, KL, Turman, C, Tangen, CM, Goodman, PJ, Thompson, IM, Hamilton, RJ, Fleshner, NE, Finelli, A, Parent, M-É, Stanford, JL, Ostrander, EA, Koutros, S, Beane Freeman, LE, Stampfer, M, Wolk, A, Håkansson, N, Andriole, GL, Hoover, RN, Machiela, MJ, Sørensen, KD, Borre, M, Blot, WJ, Zheng, W, Yeboah, ED, Mensah, JE, Lu, Y-J, Zhang, H-W, Feng, N, Mao, X, Wu, Y, Zhao, S-C, Sun, Z, Thibodeau, SN, McDonnell, SK, Schaid, DJ, West, CML, Barnett, G, Maier, C, Schnoeller, T, Luedeke, M, Kibel, AS, Drake, BF, Cussenot, O, Cancel-Tassin, G, Menegaux, F, Truong, T, Koudou, YA, John, EM, Grindedal, EM, Maehle, L, Khaw, K-T, Ingles, SA, Stern, MC, Vega, A, Gómez-Caamaño, A, Fachal, L, Rosenstein, BS, Kerns, SL, Ostrer, H, Teixeira, MR, Paulo, P, Brandão, A, Watya, S, Lubwama, A, Bensen, JT, Butler, EN, Mohler, JL, Taylor, JA, Kogevinas, M, Dierssen-Sotos, T, Castaño-Vinyals, G, Cannon-Albright, L, Teerlink, CC, Huff, CD, Pilie, P, Yu, Y, Bohlender, RJ, Gu, J, Strom, SS, Multigner, L, Blanchet, P, Brureau, L, Kaneva, R, Slavov, C, Mitev, V, Leach, RJ, Brenner, H, Chen, X, Holleczek, B, Schöttker, B, Klein, EA, Hsing, AW, Kittles, RA, Murphy, AB, Logothetis, CJ, Kim, J, Neuhausen, SL, Steele, L, Ding, YC, Isaacs, WB, Nemesure, B, Hennis, AJM, Carpten, J, Pandha, H, Michael, A, De Ruyck, K, De Meerleer, G, Ost, P, Xu, J, Razack, A, Lim, J, Teo, S-H, Newcomb, LF, Lin, DW, Fowke, JH, Neslund-Dudas, CM, Rybicki, BA, Gamulin, M, Lessel, D, Kulis, T, Usmani, N, Abraham, A, Singhal, S, Parliament, M, Claessens, F, Joniau, S, Van den Broeck, T, Gago-Dominguez, M, Castelao, JE, Martinez, ME, Larkin, S, Townsend, PA, Aukim-Hastie, C, Bush, WS, Aldrich, MC, Crawford, DC, Srivastava, S, Cullen, J, Petrovics, G, Casey, G, Wang, Y, Tettey, Y, Lachance, J, Tang, W, Biritwum, RB, Adjei, AA, Tay, E, Truelove, A, Niwa, S, Yamoah, K, Govindasami, K, Chokkalingam, AP, Keaton, JM, Hellwege, JN, Clark, PE, Jalloh, M, Gueye, SM, Niang, L, Ogunbiyi, O, Shittu, O, Amodu, O, Adebiyi, AO, Aisuodionoe-Shadrach, OI, Ajibola, HO, Jamda, MA, Oluwole, OP, Nwegbu, M, Adusei, B, Mante, S, Darkwa-Abrahams, A, Diop, H, Gundell, SM, Roobol, MJ, Jenster, G, van Schaik, RHN, Hu, JJ, Sanderson, M, Kachuri, L, Varma, R, McKean-Cowdin, R, Torres, M, Preuss, MH, Loos, RJF, Zawistowski, M, Zöllner, S, Lu, Z, Van Den Eeden, SK, Easton, DF, Ambs, S, Edwards, TL, Mägi, R, Rebbeck, TR, Fritsche, L, Chanock, SJ, Berndt, SI, Wiklund, F, Nakagawa, H, Witte, JS, Gaziano, JM, Justice, AC, Mancuso, N, Terao, C, Eeles, RA, Kote-Jarai, Z, Madduri, RK, Conti, DV, Haiman, CA, Wang, A, Shen, J, Rodriguez, AA, Saunders, EJ, Chen, F, Janivara, R, Darst, BF, Sheng, X, Xu, Y, Chou, AJ, Benlloch, S, Dadaev, T, Brook, MN, Plym, A, Sahimi, A, Hoffman, TJ, Takahashi, A, Matsuda, K, Momozawa, Y, Fujita, M, Laisk, T, Figuerêdo, J, Muir, K, Ito, S, Liu, X, Biobank Japan Project, Uchio, Y, Kubo, M, Kamatani, Y, Lophatananon, A, Wan, P, Andrews, C, Lori, A, Choudhury, PP, Schleutker, J, Tammela, TLJ, Sipeky, C, Auvinen, A, Giles, GG, Southey, MC, MacInnis, RJ, Cybulski, C, Wokolorczyk, D, Lubinski, J, Rentsch, CT, Cho, K, Mcmahon, BH, Neal, DE, Donovan, JL, Hamdy, FC, Martin, RM, Nordestgaard, BG, Nielsen, SF, Weischer, M, Bojesen, SE, Røder, A, Stroomberg, HV, Batra, J, Chambers, S, Horvath, L, Clements, JA, Tilly, W, Risbridger, GP, Gronberg, H, Aly, M, Szulkin, R, Eklund, M, Nordstrom, T, Pashayan, N, Dunning, AM, Ghoussaini, M, Travis, RC, Key, TJ, Riboli, E, Park, JY, Sellers, TA, Lin, H-Y, Albanes, D, Weinstein, S, Cook, MB, Mucci, LA, Giovannucci, E, Lindstrom, S, Kraft, P, Hunter, DJ, Penney, KL, Turman, C, Tangen, CM, Goodman, PJ, Thompson, IM, Hamilton, RJ, Fleshner, NE, Finelli, A, Parent, M-É, Stanford, JL, Ostrander, EA, Koutros, S, Beane Freeman, LE, Stampfer, M, Wolk, A, Håkansson, N, Andriole, GL, Hoover, RN, Machiela, MJ, Sørensen, KD, Borre, M, Blot, WJ, Zheng, W, Yeboah, ED, Mensah, JE, Lu, Y-J, Zhang, H-W, Feng, N, Mao, X, Wu, Y, Zhao, S-C, Sun, Z, Thibodeau, SN, McDonnell, SK, Schaid, DJ, West, CML, Barnett, G, Maier, C, Schnoeller, T, Luedeke, M, Kibel, AS, Drake, BF, Cussenot, O, Cancel-Tassin, G, Menegaux, F, Truong, T, Koudou, YA, John, EM, Grindedal, EM, Maehle, L, Khaw, K-T, Ingles, SA, Stern, MC, Vega, A, Gómez-Caamaño, A, Fachal, L, Rosenstein, BS, Kerns, SL, Ostrer, H, Teixeira, MR, Paulo, P, Brandão, A, Watya, S, Lubwama, A, Bensen, JT, Butler, EN, Mohler, JL, Taylor, JA, Kogevinas, M, Dierssen-Sotos, T, Castaño-Vinyals, G, Cannon-Albright, L, Teerlink, CC, Huff, CD, Pilie, P, Yu, Y, Bohlender, RJ, Gu, J, Strom, SS, Multigner, L, Blanchet, P, Brureau, L, Kaneva, R, Slavov, C, Mitev, V, Leach, RJ, Brenner, H, Chen, X, Holleczek, B, Schöttker, B, Klein, EA, Hsing, AW, Kittles, RA, Murphy, AB, Logothetis, CJ, Kim, J, Neuhausen, SL, Steele, L, Ding, YC, Isaacs, WB, Nemesure, B, Hennis, AJM, Carpten, J, Pandha, H, Michael, A, De Ruyck, K, De Meerleer, G, Ost, P, Xu, J, Razack, A, Lim, J, Teo, S-H, Newcomb, LF, Lin, DW, Fowke, JH, Neslund-Dudas, CM, Rybicki, BA, Gamulin, M, Lessel, D, Kulis, T, Usmani, N, Abraham, A, Singhal, S, Parliament, M, Claessens, F, Joniau, S, Van den Broeck, T, Gago-Dominguez, M, Castelao, JE, Martinez, ME, Larkin, S, Townsend, PA, Aukim-Hastie, C, Bush, WS, Aldrich, MC, Crawford, DC, Srivastava, S, Cullen, J, Petrovics, G, Casey, G, Wang, Y, Tettey, Y, Lachance, J, Tang, W, Biritwum, RB, Adjei, AA, Tay, E, Truelove, A, Niwa, S, Yamoah, K, Govindasami, K, Chokkalingam, AP, Keaton, JM, Hellwege, JN, Clark, PE, Jalloh, M, Gueye, SM, Niang, L, Ogunbiyi, O, Shittu, O, Amodu, O, Adebiyi, AO, Aisuodionoe-Shadrach, OI, Ajibola, HO, Jamda, MA, Oluwole, OP, Nwegbu, M, Adusei, B, Mante, S, Darkwa-Abrahams, A, Diop, H, Gundell, SM, Roobol, MJ, Jenster, G, van Schaik, RHN, Hu, JJ, Sanderson, M, Kachuri, L, Varma, R, McKean-Cowdin, R, Torres, M, Preuss, MH, Loos, RJF, Zawistowski, M, Zöllner, S, Lu, Z, Van Den Eeden, SK, Easton, DF, Ambs, S, Edwards, TL, Mägi, R, Rebbeck, TR, Fritsche, L, Chanock, SJ, Berndt, SI, Wiklund, F, Nakagawa, H, Witte, JS, Gaziano, JM, Justice, AC, Mancuso, N, Terao, C, Eeles, RA, Kote-Jarai, Z, Madduri, RK, Conti, DV, and Haiman, CA

Abstract

The transferability and clinical value of genetic risk scores (GRSs) across populations remain limited due to an imbalance in genetic studies across ancestrally diverse populations. Here we conducted a multi-ancestry genome-wide association study of 156,319 prostate cancer cases and 788,443 controls of European, African, Asian and Hispanic men, reflecting a 57% increase in the number of non-European cases over previous prostate cancer genome-wide association studies. We identified 187 novel risk variants for prostate cancer, increasing the total number of risk variants to 451. An externally replicated multi-ancestry GRS was associated with risk that ranged from 1.8 (per standard deviation) in African ancestry men to 2.2 in European ancestry men. The GRS was associated with a greater risk of aggressive versus non-aggressive disease in men of African ancestry (P = 0.03). Our study presents novel prostate cancer susceptibility loci and a GRS with effective risk stratification across ancestry groups.

Published
2023

16. Dissecting the genetic heterogeneity of gastric cancer

Author

Hess, T., Maj, C., Gehlen, J., Borisov, O., Haas, S. L., Gockel, I., Vieth, M., Piessen, G., Alakus, H., Vashist, Y., Pereira, C., Knapp, M., Schuller, V., Quaas, A., Grabsch, H. I., Trautmann, J., Malecka-Wojciesko, E., Mokrowiecka, A., Speller, J., Mayr, A., Schroder, J., Hillmer, A. M., Heider, D., Lordick, F., Perez-Aisa, A., Campo, R., Espinel, J., Geijo, F., Thomson, C., Bujanda, L., Sopena, F., Lanas, A., Pellise, M., Pauligk, C., Goetze, T. O., Zelck, C., Reingruber, J., Hassanin, E., Elbe, P., Alsabeah, S., Lindblad, M., Nilsson, M., Kreuser, N., Thieme, R., Tavano, F., Pastorino, Roberta, Arzani, D., Persiani, Roberto, Jung, J. -O., Nienhuser, H., Ott, K., Schumann, R. R., Kumpf, O., Burock, S., Arndt, V., Jakubowska, A., Lawniczak, M., Moreno, V., Martin, V., Kogevinas, M., Pollan, M., Dabrowska, J., Salas, A., Cussenot, O., Boland-Auge, A., Daian, D., Deleuze, J. -F., Salvi, E., Teder-Laving, M., Tomasello, G., Ratti, M., Senti, C., De Re, V., Steffan, A., Holscher, A. H., Messerle, K., Bruns, C. J., Sivins, A., Bogdanova, I., Skieceviciene, J., Arstikyte, J., Moehler, M., Lang, H., Grimminger, P. P., Kruschewski, M., Vassos, N., Schildberg, C., Lingohr, P., Ridwelski, K., Lippert, H., Fricker, N., Krawitz, P., Hoffmann, Christian Pieter, Nothen, M. M., Veits, L., Izbicki, J. R., Mostowska, A., Martinon-Torres, F., Cusi, D., Adolfsson, R., Cancel-Tassin, G., Hoblinger, A., Rodermann, E., Ludwig, M., Keller, G., Metspalu, A., Brenner, H., Heller, J., Neef, M., Schepke, M., Dumoulin, F. L., Hamann, L., Cannizzaro, Rino, Ghidini, Maria Candida, Plassmann, D., Geppert, M., Malfertheiner, P., Gehlen, O., Skoczylas, T., Majewski, M., Lubinski, J., Palmieri, O., Boccia, Stefania, Latiano, A., Aragones, N., Schmidt, T., Dinis-Ribeiro, M., Medeiros, R., Al-Batran, S. -E., Leja, M., Kupcinskas, J., Garcia-Gonzalez, M. A., Venerito, M., Schumacher, J., Pastorino R. (ORCID:0000-0001-5013-0733), Persiani R. (ORCID:0000-0002-1537-5097), Hoffmann P., Cannizzaro R., Ghidini M., Boccia S. (ORCID:0000-0002-1864-749X), Hess, T., Maj, C., Gehlen, J., Borisov, O., Haas, S. L., Gockel, I., Vieth, M., Piessen, G., Alakus, H., Vashist, Y., Pereira, C., Knapp, M., Schuller, V., Quaas, A., Grabsch, H. I., Trautmann, J., Malecka-Wojciesko, E., Mokrowiecka, A., Speller, J., Mayr, A., Schroder, J., Hillmer, A. M., Heider, D., Lordick, F., Perez-Aisa, A., Campo, R., Espinel, J., Geijo, F., Thomson, C., Bujanda, L., Sopena, F., Lanas, A., Pellise, M., Pauligk, C., Goetze, T. O., Zelck, C., Reingruber, J., Hassanin, E., Elbe, P., Alsabeah, S., Lindblad, M., Nilsson, M., Kreuser, N., Thieme, R., Tavano, F., Pastorino, Roberta, Arzani, D., Persiani, Roberto, Jung, J. -O., Nienhuser, H., Ott, K., Schumann, R. R., Kumpf, O., Burock, S., Arndt, V., Jakubowska, A., Lawniczak, M., Moreno, V., Martin, V., Kogevinas, M., Pollan, M., Dabrowska, J., Salas, A., Cussenot, O., Boland-Auge, A., Daian, D., Deleuze, J. -F., Salvi, E., Teder-Laving, M., Tomasello, G., Ratti, M., Senti, C., De Re, V., Steffan, A., Holscher, A. H., Messerle, K., Bruns, C. J., Sivins, A., Bogdanova, I., Skieceviciene, J., Arstikyte, J., Moehler, M., Lang, H., Grimminger, P. P., Kruschewski, M., Vassos, N., Schildberg, C., Lingohr, P., Ridwelski, K., Lippert, H., Fricker, N., Krawitz, P., Hoffmann, Christian Pieter, Nothen, M. M., Veits, L., Izbicki, J. R., Mostowska, A., Martinon-Torres, F., Cusi, D., Adolfsson, R., Cancel-Tassin, G., Hoblinger, A., Rodermann, E., Ludwig, M., Keller, G., Metspalu, A., Brenner, H., Heller, J., Neef, M., Schepke, M., Dumoulin, F. L., Hamann, L., Cannizzaro, Rino, Ghidini, Maria Candida, Plassmann, D., Geppert, M., Malfertheiner, P., Gehlen, O., Skoczylas, T., Majewski, M., Lubinski, J., Palmieri, O., Boccia, Stefania, Latiano, A., Aragones, N., Schmidt, T., Dinis-Ribeiro, M., Medeiros, R., Al-Batran, S. -E., Leja, M., Kupcinskas, J., Garcia-Gonzalez, M. A., Venerito, M., Schumacher, J., Pastorino R. (ORCID:0000-0001-5013-0733), Persiani R. (ORCID:0000-0002-1537-5097), Hoffmann P., Cannizzaro R., Ghidini M., and Boccia S. (ORCID:0000-0002-1864-749X)

Abstract

Background: Gastric cancer (GC) is clinically heterogenous according to location (cardia/non-cardia) and histopathology (diffuse/intestinal). We aimed to characterize the genetic risk architecture of GC according to its subtypes. Another aim was to examine whether cardia GC and oesophageal adenocarcinoma (OAC) and its precursor lesion Barrett's oesophagus (BO), which are all located at the gastro-oesophageal junction (GOJ), share polygenic risk architecture. Methods: We did a meta-analysis of ten European genome-wide association studies (GWAS) of GC and its subtypes. All patients had a histopathologically confirmed diagnosis of gastric adenocarcinoma. For the identification of risk genes among GWAS loci we did a transcriptome-wide association study (TWAS) and expression quantitative trait locus (eQTL) study from gastric corpus and antrum mucosa. To test whether cardia GC and OAC/BO share genetic aetiology we also used a European GWAS sample with OAC/BO. Findings: Our GWAS consisting of 5816 patients and 10,999 controls highlights the genetic heterogeneity of GC according to its subtypes. We newly identified two and replicated five GC risk loci, all of them with subtype-specific association. The gastric transcriptome data consisting of 361 corpus and 342 antrum mucosa samples revealed that an upregulated expression of MUC1, ANKRD50, PTGER4, and PSCA are plausible GC-pathomechanisms at four GWAS loci. At another risk locus, we found that the blood-group 0 exerts protective effects for non-cardia and diffuse GC, while blood-group A increases risk for both GC subtypes. Furthermore, our GWAS on cardia GC and OAC/BO (10,279 patients, 16,527 controls) showed that both cancer entities share genetic aetiology at the polygenic level and identified two new risk loci on the single-marker level. Interpretation: Our findings show that the pathophysiology of GC is genetically heterogenous according to location and histopathology. Moreover, our findings point to common molecular me

Published
2023

18. International cancer seminars: a focus on kidney cancer

Author

Scelo, G., Hofmann, J.N., Banks, R.E., Bigot, P., Bhatt, R.S., Cancel-Tassin, G., Chew, S.K., Creighton, C.J., Cussenot, O., Davis, I.J., Escudier, B., Frayling, T.M., Häggström, C., Hildebrandt, M.A.T., Holcatova, I., Johansson, M., Linehan, W.M., McDermott, D.F., Nathanson, K.L., Ogawa, S., Perlman, E.J., Purdue, M.P., Stattin, P., Swanton, C., Vasudev, N.S., Wu, X., Znaor, A., Brennan, P., and Chanock, S.J.

Published
2016
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19. Spatial transcriptomic analysis of virtual prostate biopsy reveals confounding effect of heterogeneity on genomic signature scoring

Author

Figiel, S., primary, Yin, W., additional, Doultsinos, D., additional, Erickson, A., additional, Poulose, N., additional, Singh, R., additional, Magnussen, A., additional, He, M., additional, Lundeberg, J., additional, Verrill, C., additional, Colling, R., additional, Gill, P.S., additional, Bryant, R.J., additional, Hamdy, F.C., additional, Woodcock, D.J., additional, Mills, I.G., additional, Cussenot, O., additional, and Lamb, A.D., additional

Published
2023
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20. Prognosis of primary papillary Ta-G3 bladder cancer in the non-muscle invasive spectrum

Author

Beijert, I.J., primary, Hentschel, A.E., additional, Bründl, J., additional, Compérat, E.M, additional, Plass, K., additional, Rodríguez, O., additional, Subiela Henríquez, J.D., additional, Hernández, V., additional, De La Peña, E., additional, Alemany, I., additional, Turturica, D., additional, Pisano, F., additional, Soria, F., additional, Čapoun, O., additional, Bauerová, L., additional, Pešl, M., additional, Bruins, H.M., additional, Runneboom, W., additional, Herdegen, S., additional, Breyer, J., additional, Brisuda, A., additional, Calatrava, A., additional, Rubio-Briones, J.., additional, Seles, M., additional, Mannweiler, S., additional, Bosschieter, J., additional, Kusuma, V.R.M., additional, Ashabere, D., additional, Huebner, N., additional, Cotte, J., additional, Mertens, L.S, additional, Masson-Lecomte, A., additional, Liedberg, F., additional, Cohen, D., additional, Lunelli, L., additional, Cussenot, O., additional, El Sheikh, S., additional, Volanis, D., additional, Côté, J., additional, Rouprêt, M., additional, Haitel, A., additional, Shariat, S.F., additional, Mostafid, A.H., additional, Nieuwenhuijzen, J.A., additional, Zigeuner, R., additional, Dominguez-Escrig, J.L., additional, Hacek, J., additional, Zlotta, A.R., additional, Burger, M., additional, Evert, M., additional, Hulsbergen - Van De Kaa, C.A., additional, Van Der Heijden, A.G., additional, Kiemeney, L.A.L.M., additional, Soukup, V., additional, Molinaro, L., additional, Gontero, P., additional, Llorente, C., additional, Algaba, F., additional, Palou, J., additional, N’Dow, J., additional, Ribal, M.J., additional, Van Der Kwast, T.H., additional, Babjuk, M., additional, Sylvester, R.J., additional, and Van Rhijn, B.W.G., additional

Published
2022
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21. Impact pronostique de l’expression de pd-1 et pd-l1 pour les tumeurs de la voie excrétrice supérieure

Author

Campedel, L., primary, Varinot, J., additional, Cancel-tassin, G., additional, Rouprêt, M., additional, Gabriel, P., additional, Daniel, G., additional, Decaussin-petrucci, M., additional, Eymerit, C., additional, Lebacle, C., additional, Ferlicot, S., additional, Mège-lechevalier, F., additional, Lindner, V., additional, Léon, P., additional, Durlach, A., additional, Gobet, F., additional, Vuong, N., additional, Philip, M., additional, Cussenot, O., additional, Comperat, E., additional, and Seisen, T., additional

Published
2022
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22. O3 - Prognosis of primary papillary Ta-G3 bladder cancer in the non-muscle invasive spectrum

Author

Beijert, I.J., Hentschel, A.E., Bründl, J., Compérat, E.M, Plass, K., Rodríguez, O., Subiela Henríquez, J.D., Hernández, V., De La Peña, E., Alemany, I., Turturica, D., Pisano, F., Soria, F., Čapoun, O., Bauerová, L., Pešl, M., Bruins, H.M., Runneboom, W., Herdegen, S., Breyer, J., Brisuda, A., Calatrava, A., Rubio-Briones, J.., Seles, M., Mannweiler, S., Bosschieter, J., Kusuma, V.R.M., Ashabere, D., Huebner, N., Cotte, J., Mertens, L.S, Masson-Lecomte, A., Liedberg, F., Cohen, D., Lunelli, L., Cussenot, O., El Sheikh, S., Volanis, D., Côté, J., Rouprêt, M., Haitel, A., Shariat, S.F., Mostafid, A.H., Nieuwenhuijzen, J.A., Zigeuner, R., Dominguez-Escrig, J.L., Hacek, J., Zlotta, A.R., Burger, M., Evert, M., Hulsbergen - Van De Kaa, C.A., Van Der Heijden, A.G., Kiemeney, L.A.L.M., Soukup, V., Molinaro, L., Gontero, P., Llorente, C., Algaba, F., Palou, J., N’Dow, J., Ribal, M.J., Van Der Kwast, T.H., Babjuk, M., Sylvester, R.J., and Van Rhijn, B.W.G.

Published
2022
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25. Prostate cancer risk stratification improvement across multiple ancestries with new polygenic hazard score

Author

Minh-Phuong, H-L, Karunamuni, R, Fan, CC, Asona, L, Thompson, WK, Martinez, ME, Eeles, RA, Kote-Jarai, Z, Muir, KR, Lophatananon, A, Schleutker, J, Pashayan, N, Batra, J, Groenberg, H, Neal, DE, Nordestgaard, BG, Tangen, CM, MacInnis, RJ, Wolk, A, Albanes, D, Haiman, CA, Travis, RC, Blot, WJ, Stanford, JL, Mucci, LA, West, CML, Nielsen, SF, Kibel, AS, Cussenot, O, Berndt, S, Koutros, S, Sorensen, KD, Cybulski, C, Grindedal, EM, Menegaux, F, Park, JY, Ingles, SA, Maier, C, Hamilton, RJ, Rosenstein, BS, Lu, Y-J, Watya, S, Vega, A, Kogevinas, M, Wiklund, F, Penney, KL, Huff, CD, Teixeira, MR, Multigner, L, Leach, RJ, Brenner, H, John, EM, Kaneva, R, Logothetis, CJ, Neuhausen, SL, De Ruyck, K, Ost, P, Razack, A, Newcomb, LF, Fowke, JH, Gamulin, M, Abraham, A, Claessens, F, Castelao, JE, Townsend, PA, Crawford, DC, Petrovics, G, van Schaik, RHN, Parent, M-E, Hu, JJ, Zheng, W, Mills, IG, Andreassen, OA, Dale, AM, Seibert, TM, Minh-Phuong, H-L, Karunamuni, R, Fan, CC, Asona, L, Thompson, WK, Martinez, ME, Eeles, RA, Kote-Jarai, Z, Muir, KR, Lophatananon, A, Schleutker, J, Pashayan, N, Batra, J, Groenberg, H, Neal, DE, Nordestgaard, BG, Tangen, CM, MacInnis, RJ, Wolk, A, Albanes, D, Haiman, CA, Travis, RC, Blot, WJ, Stanford, JL, Mucci, LA, West, CML, Nielsen, SF, Kibel, AS, Cussenot, O, Berndt, S, Koutros, S, Sorensen, KD, Cybulski, C, Grindedal, EM, Menegaux, F, Park, JY, Ingles, SA, Maier, C, Hamilton, RJ, Rosenstein, BS, Lu, Y-J, Watya, S, Vega, A, Kogevinas, M, Wiklund, F, Penney, KL, Huff, CD, Teixeira, MR, Multigner, L, Leach, RJ, Brenner, H, John, EM, Kaneva, R, Logothetis, CJ, Neuhausen, SL, De Ruyck, K, Ost, P, Razack, A, Newcomb, LF, Fowke, JH, Gamulin, M, Abraham, A, Claessens, F, Castelao, JE, Townsend, PA, Crawford, DC, Petrovics, G, van Schaik, RHN, Parent, M-E, Hu, JJ, Zheng, W, Mills, IG, Andreassen, OA, Dale, AM, and Seibert, TM

Abstract

BACKGROUND: Prostate cancer risk stratification using single-nucleotide polymorphisms (SNPs) demonstrates considerable promise in men of European, Asian, and African genetic ancestries, but there is still need for increased accuracy. We evaluated whether including additional SNPs in a prostate cancer polygenic hazard score (PHS) would improve associations with clinically significant prostate cancer in multi-ancestry datasets. METHODS: In total, 299 SNPs previously associated with prostate cancer were evaluated for inclusion in a new PHS, using a LASSO-regularized Cox proportional hazards model in a training dataset of 72,181 men from the PRACTICAL Consortium. The PHS model was evaluated in four testing datasets: African ancestry, Asian ancestry, and two of European Ancestry-the Cohort of Swedish Men (COSM) and the ProtecT study. Hazard ratios (HRs) were estimated to compare men with high versus low PHS for association with clinically significant, with any, and with fatal prostate cancer. The impact of genetic risk stratification on the positive predictive value (PPV) of PSA testing for clinically significant prostate cancer was also measured. RESULTS: The final model (PHS290) had 290 SNPs with non-zero coefficients. Comparing, for example, the highest and lowest quintiles of PHS290, the hazard ratios (HRs) for clinically significant prostate cancer were 13.73 [95% CI: 12.43-15.16] in ProtecT, 7.07 [6.58-7.60] in African ancestry, 10.31 [9.58-11.11] in Asian ancestry, and 11.18 [10.34-12.09] in COSM. Similar results were seen for association with any and fatal prostate cancer. Without PHS stratification, the PPV of PSA testing for clinically significant prostate cancer in ProtecT was 0.12 (0.11-0.14). For the top 20% and top 5% of PHS290, the PPV of PSA testing was 0.19 (0.15-0.22) and 0.26 (0.19-0.33), respectively. CONCLUSIONS: We demonstrate better genetic risk stratification for clinically significant prostate cancer than prior versions of PHS in multi-ancestry d

Published
2022

26. T1G1 Bladder Cancer: Prognosis for this Rare Pathological Diagnosis Within the Non-muscle-invasive Bladder Cancer Spectrum

Author

Beijert, I.J., Hentschel, A.E., Bründl, J., Compérat, E.M., Plass, K., Rodríguez, O., Henríquez, J.D. Subiela, Hernández, V., Peña, E. de la, Alemany, I., Turturica, D., Pisano, F., Soria, F., Čapoun, O., Bauerová, L., Pešl, M., Bruins, H.M., Runneboom, W., Herdegen, S., Breyer, J., Brisuda, A., Calatrava, A., Rubio-Briones, J., Seles, M., Mannweiler, S., Bosschieter, J., Kusuma, V.R.M., Ashabere, D., Huebner, N., Cotte, J., Mertens, L.S., Masson-Lecomte, A., Liedberg, F., Cohen, D., Lunelli, L., Cussenot, O., Sheikh, S., Volanis, D., Côté, J.F., Rouprêt, M., Haitel, A., Shariat, S.F., Mostafid, A.H., Nieuwenhuijzen, J.A., Zigeuner, R., Dominguez-Escrig, J.L., Hacek, J., Zlotta, A.R., Burger, M., Evert, M., Hulsbergen-van de Kaa, C.A., Heijden, A.G. van der, Kiemeney, L.A.L.M., Soukup, V., Molinaro, L., Gontero, P., Llorente, C., Algaba, F., Palou, J., N'Dow, J., Ribal, M.J., Kwast, Theodorus H. van der, Babjuk, M., Sylvester, R.J., Rhijn, B.W. van, Beijert, I.J., Hentschel, A.E., Bründl, J., Compérat, E.M., Plass, K., Rodríguez, O., Henríquez, J.D. Subiela, Hernández, V., Peña, E. de la, Alemany, I., Turturica, D., Pisano, F., Soria, F., Čapoun, O., Bauerová, L., Pešl, M., Bruins, H.M., Runneboom, W., Herdegen, S., Breyer, J., Brisuda, A., Calatrava, A., Rubio-Briones, J., Seles, M., Mannweiler, S., Bosschieter, J., Kusuma, V.R.M., Ashabere, D., Huebner, N., Cotte, J., Mertens, L.S., Masson-Lecomte, A., Liedberg, F., Cohen, D., Lunelli, L., Cussenot, O., Sheikh, S., Volanis, D., Côté, J.F., Rouprêt, M., Haitel, A., Shariat, S.F., Mostafid, A.H., Nieuwenhuijzen, J.A., Zigeuner, R., Dominguez-Escrig, J.L., Hacek, J., Zlotta, A.R., Burger, M., Evert, M., Hulsbergen-van de Kaa, C.A., Heijden, A.G. van der, Kiemeney, L.A.L.M., Soukup, V., Molinaro, L., Gontero, P., Llorente, C., Algaba, F., Palou, J., N'Dow, J., Ribal, M.J., Kwast, Theodorus H. van der, Babjuk, M., Sylvester, R.J., and Rhijn, B.W. van

Abstract

Item does not contain fulltext, BACKGROUND: The pathological existence and clinical consequence of stage T1 grade 1 (T1G1) bladder cancer are the subject of debate. Even though the diagnosis of T1G1 is controversial, several reports have consistently found a prevalence of 2-6% G1 in their T1 series. However, it remains unclear if T1G1 carcinomas have added value as a separate category to predict prognosis within the non-muscle-invasive bladder cancer (NMIBC) spectrum. OBJECTIVE: To evaluate the prognostic value of T1G1 carcinomas compared to TaG1 and T1G2 carcinomas within the NMIBC spectrum. DESIGN, SETTING, AND PARTICIPANTS: Individual patient data for 5170 primary Ta and T1 bladder tumors from 17 hospitals in Europe and Canada were analyzed. Transurethral resection (TUR) was performed between 1990 and 2018. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Time to recurrence and progression were analyzed using cumulative incidence functions, log-rank tests, and multivariable Cox regression models stratified by institution. RESULTS AND LIMITATIONS: T1G1 represented 1.9% (99/5170) of all carcinomas and 5.3% (99/1859) of T1 carcinomas. According to primary TUR dates, the proportion of T1G1 varied between 0.9% and 3.5% per year, with similar percentages in the early and later calendar years. We found no difference in time to recurrence between T1G1 and TaG1 (p = 0.91) or between T1G1 and T1G2 (p = 0.30). Time to progression significantly differed between TaG1 and T1G1 (p < 0.001) but not between T1G1 and T1G2 (p = 0.30). Multivariable analyses for recurrence and progression showed similar results. CONCLUSIONS: The relative prevalence of T1G1 diagnosis was low and remained constant over the past three decades. Time to recurrence of T1G1 NMIBC was comparable to that for other stage/grade NMIBC combinations. Time to progression of T1G1 NMIBC was comparable to that for T1G2 but not for TaG1, suggesting that treatment and surveillance of T1G1 carcinomas should be more like the approaches for T1G2 NMIBC in

Published
2022

32. A study of the immunohistochemical profile of bladder cancer in neuro-urological patients by the French Association of Urology

Author

Michel, F., primary, Cancrini, F., additional, Cancel-Tassin, G., additional, Gamé, X., additional, Huyghe, E., additional, Rock, A., additional, Léon, G., additional, Uzan, A., additional, Desfemmes, F-R., additional, Peyronnet, B., additional, Fallot, J., additional, Léon, P., additional, Rolland, E., additional, Perrouin-Verbe, M-A., additional, Wodey, J., additional, Capon, G., additional, Karsenty, G., additional, Rouprêt, M., additional, Cussenot, O., additional, Alshehhi, H., additional, Comperat, E., additional, and Phé, V., additional

Published
2022
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36. Impact of renal cell carcinoma histological variants on recurrence after partial nephrectomy: A multi-institutional, prospective study (UROCCR study 82)

Author

Tabourin, T., primary, Pinar, U., additional, Parra, J., additional, Vaessen, C., additional, Bensalah, C-K., additional, Audenet, F., additional, Bigot, P., additional, Champy, C., additional, Olivier, J., additional, Bruyere, F., additional, Nicolas, D., additional, Paparel, P., additional, Parier, B., additional, Durand, X., additional, Lang, H., additional, Branger, N., additional, Long, J-A., additional, Durand, M., additional, Waeckel, T., additional, Charles, T., additional, Cussenot, O., additional, Xylinas, E., additional, Bernhard, J-C., additional, and Roupret, M., additional

Published
2022
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37. Impact of obesity in the management of kidney cancer, study URO-CCR n°87

Author

Surlemont, L., primary, Bernhard, J-C., additional, Bensalah, C-K., additional, Audenet, F., additional, Bigot, P., additional, Doumerc, N., additional, De La Taille, A., additional, Roupret, M., additional, Olivier, J., additional, Bruyère, F., additional, Parier, B., additional, Lang, H., additional, Brenier, M., additional, Waeckel, T., additional, Long, J-A., additional, Durand, M., additional, Branger, N., additional, Tambwe, R., additional, Cussenot, O., additional, Boissier, R., additional, Charles, T., additional, and Nouhaud, F-X., additional

Published
2022
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38. Marital status and prostate cancer incidence: a pooled analysis of 12 case-control studies from the PRACTICAL consortium

Author

Salmon, C, Song, L, Muir, K, UKGPCS Collaborators, Pashayan, N, Dunning, AM, Batra, J, APCB BioResource (Australian Prostate Cancer BioResource), Chambers, S, Stanford, JL, Ostrander, EA, Park, JY, Lin, H-Y, Cussenot, O, Cancel-Tassin, G, Menegaux, F, Cordina-Duverger, E, Kogevinas, M, Llorca, J, Kaneva, R, Slavov, C, Razack, A, Lim, J, Gago-Dominguez, M, Castelao, JE, Kote-Jarai, Z, Eeles, RA, on behalf of the PRACTICAL Consortium, and Parent, M-É

Subjects
Male, Marital Status, Epidemiology, Incidence, Prostatic Neoplasms, Social Support, Single Person, Adenocarcinoma, Middle Aged, 1117 Public Health and Health Services, Divorce, Population Surveillance, Humans, Marriage, Aged
Abstract

While being in a committed relationship is associated with a better prostate cancer prognosis, little is known about how marital status relates to its incidence. Social support provided by marriage/relationship could promote a healthy lifestyle and an increased healthcare seeking behavior. We investigated the association between marital status and prostate cancer risk using data from the PRACTICAL Consortium. Pooled analyses were conducted combining 12 case-control studies based on histologically-confirmed incident prostate cancers and controls with information on marital status prior to diagnosis/interview. Marital status was categorized as married/partner, separated/divorced, single, or widowed. Tumours with Gleason scores ≥ 8 defined high-grade cancers, and low-grade otherwise. NCI-SEER's summary stages (local, regional, distant) indicated the extent of the cancer. Logistic regression was used to derive odds ratios (ORs) and 95% confidence intervals (CI) for the association between marital status and prostate cancer risk, adjusting for potential confounders. Overall, 14,760 cases and 12,019 controls contributed to analyses. Compared to men who were married/with a partner, widowed men had an OR of 1.19 (95% CI 1.03-1.35) of prostate cancer, with little difference between low- and high-grade tumours. Risk estimates among widowers were 1.14 (95% CI 0.97-1.34) for local, 1.53 (95% CI 1.22-1.92) for regional, and 1.56 (95% CI 1.05-2.32) for distant stage tumours. Single men had elevated risks of high-grade cancers. Our findings highlight elevated risks of incident prostate cancer among widowers, more often characterized by tumours that had spread beyond the prostate at the time of diagnosis. Social support interventions and closer medical follow-up in this sub-population are warranted.

Published
2021

41. Impact de l’obésité dans la prise en charge du cancer du rein, étude URO-CCR N°87

Author

Surlemont, L., primary, Bernarhd, J.C., additional, Bensalah, K., additional, Bigot, P., additional, Doumerc, N., additional, De la taille, A., additional, Rouprêt, M., additional, Villers, A., additional, Bruyere, F., additional, Lebacle, C., additional, Lang, H., additional, Durand, X., additional, Tillou, X., additional, Long, J.A., additional, Rouget, B., additional, Durand, M., additional, Pignot, G., additional, Larre, S., additional, Cussenot, O., additional, and Nouhaud, F., additional

Published
2021
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42. Influence de l’obésité sur le type histologique des tumeurs rénales opérées, étude URO-CCR N°69

Author

Montalvan, L., primary, Bernhard, J.C., additional, Bensalah, C.K., additional, Paparel, P., additional, Bigot, P., additional, Doumerc, N., additional, Olivier, J., additional, Bruyere, F., additional, Ingels, A., additional, Rouprêt, M., additional, Audenet, F., additional, Lebacle, C., additional, Long, J.A., additional, Durand, X., additional, Waeckel, T., additional, Durand, M., additional, Lang, H., additional, Pignot, G., additional, Cussenot, O., additional, Charles, T., additional, Tambwe, R., additional, Xylinas, E., additional, Boissier, R., additional, Patard, J.J., additional, Beauval, J.B., additional, Mallet, R., additional, Rouget, B., additional, and Nouhaud, F.X., additional

Published
2021
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46. European Association of Urology (EAU) Prognostic Factor Risk Groups for Non-muscle-invasive Bladder Cancer (NMIBC) Incorporating the WHO 2004/2016 and WHO 1973 Classification Systems for Grade: An Update from the EAU NMIBC Guidelines Panel

Author

Sylvester, R.J., Rodríguez, O., Hernández, V., Turturica, D., Bauerová, L., Bruins, H.M., Bründl, J., Kwast, Theodorus H. van der, Brisuda, A., Rubio-Briones, J., Seles, M., Hentschel, A.E., Kusuma, V.R.M., Huebner, N., Cotte, J., Mertens, L.S., Volanis, D., Cussenot, O., Henríquez, J.D. Subiela, Peña, E. de la, Pisano, F., Pešl, M., Heijden, A.G. van der, Herdegen, S., Zlotta, A.R., Hacek, J., Calatrava, A., Mannweiler, S., Bosschieter, J., Ashabere, D., Haitel, A., Côté, J.F., Sheikh, S., Lunelli, L., Algaba, F., Alemany, I., Soria, F., Runneboom, W., Breyer, J., Nieuwenhuijzen, J.A., Llorente, C., Molinaro, L., Hulsbergen-van de Kaa, C.A., Evert, M., Kiemeney, L.A., N'Dow, J., Plass, K., Čapoun, O., Soukup, V., Dominguez-Escrig, J.L., Cohen, D., Palou, J., Gontero, P., Burger, M., Zigeuner, R., Mostafid, A.H., Shariat, S.F., Rouprêt, M., Compérat, E.M., Babjuk, M., Rhijn, B.W. van, Sylvester, R.J., Rodríguez, O., Hernández, V., Turturica, D., Bauerová, L., Bruins, H.M., Bründl, J., Kwast, Theodorus H. van der, Brisuda, A., Rubio-Briones, J., Seles, M., Hentschel, A.E., Kusuma, V.R.M., Huebner, N., Cotte, J., Mertens, L.S., Volanis, D., Cussenot, O., Henríquez, J.D. Subiela, Peña, E. de la, Pisano, F., Pešl, M., Heijden, A.G. van der, Herdegen, S., Zlotta, A.R., Hacek, J., Calatrava, A., Mannweiler, S., Bosschieter, J., Ashabere, D., Haitel, A., Côté, J.F., Sheikh, S., Lunelli, L., Algaba, F., Alemany, I., Soria, F., Runneboom, W., Breyer, J., Nieuwenhuijzen, J.A., Llorente, C., Molinaro, L., Hulsbergen-van de Kaa, C.A., Evert, M., Kiemeney, L.A., N'Dow, J., Plass, K., Čapoun, O., Soukup, V., Dominguez-Escrig, J.L., Cohen, D., Palou, J., Gontero, P., Burger, M., Zigeuner, R., Mostafid, A.H., Shariat, S.F., Rouprêt, M., Compérat, E.M., Babjuk, M., and Rhijn, B.W. van

Abstract

Item does not contain fulltext, BACKGROUND: The European Association of Urology (EAU) prognostic factor risk groups for non-muscle-invasive bladder cancer (NMIBC) are used to provide recommendations for patient treatment after transurethral resection of bladder tumor (TURBT). They do not, however, take into account the widely used World Health Organization (WHO) 2004/2016 grading classification and are based on patients treated in the 1980s. OBJECTIVE: To update EAU prognostic factor risk groups using the WHO 1973 and 2004/2016 grading classifications and identify patients with the lowest and highest probabilities of progression. DESIGN, SETTING, AND PARTICIPANTS: Individual patient data for primary NMIBC patients were collected from the institutions of the members of the EAU NMIBC guidelines panel. INTERVENTION: Patients underwent TURBT followed by intravesical instillations at the physician's discretion. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Multivariable Cox proportional-hazards regression models were fitted to the primary endpoint, the time to progression to muscle-invasive disease or distant metastases. Patients were divided into four risk groups: low-, intermediate-, high-, and a new, very high-risk group. The probabilities of progression were estimated using Kaplan-Meier curves. RESULTS AND LIMITATIONS: A total of 3401 patients treated with TURBT ± intravesical chemotherapy were included. From the multivariable analyses, tumor stage, WHO 1973/2004-2016 grade, concomitant carcinoma in situ, number of tumors, tumor size, and age were used to form four risk groups for which the probability of progression at 5 yr varied from <1% to >40%. Limitations include the retrospective collection of data and the lack of central pathology review. CONCLUSIONS: This study provides updated EAU prognostic factor risk groups that can be used to inform patient treatment and follow-up. Incorporating the WHO 2004/2016 and 1973 grading classifications, a new, very high-risk group has been identified for wh

Published
2021

47. Polygenic hazard score is associated with prostate cancer in multi-ethnic populations

Author

Huynh-Le, M.-P. (Minh-Phuong), Fan, C.C. (Chun Chieh), Karunamuni, R. (Roshan), Thompson, W.K. (Wesley K.), Martinez, M.E. (Maria Elena), Eeles, R. (Rosalind), Kote-Jarai, Z., Muir, K. (Kenneth), Schleutker, J. (Johanna), Pashayan, N. (Nora), Batra, J. (Jyotsna), Grönberg, H. (Henrik), Neal, D.E. (David E.), Donovan, J.L. (Jenny L.), Hamdy, F.C. (Freddie C.), Martin, R.M. (Richard M.), Nielsen, S.F. (Sune F.), Nordestgaard, B.G. (Børge), Wiklund, F. (Fredrik), Tangen, C.M. (Catherine M.), Giles, G.G. (Graham G.), Wolk, K. (Kerstin), Albanes, D. (Demetrius), Travis, S.P.L. (Simon), Blot, W.J. (William), Zheng, W. (Wei), Sanderson, M. (Maureen), Stanford, J.L. (Janet L.), Mucci, L.A. (Lorelei A.), West, C.M.L. (Catharine M. L.), Kibel, A. (Adam), Cussenot, O. (Olivier), Berndt, S.I. (Sonja), Koutros, S. (Stella), Sørensen, K.D. (Karina Dalsgaard), Cybulski, C. (Cezary), Grindedal, E.M. (Eli Marie), Menegaux, F. (Florence), Khaw, K.-T. (Kay-Tee), Park, J.Y. (Jong Y.), Ingles, S.A. (Sue), Maier, C. (Christiane), Hamilton, R.J. (Robert J.), Thibodeau, S.N. (Stephen), Rosenstein, B.S. (Barry S.), Lu, Y.-J. (Yong-Jie), Watya, S. (Stephen), Vega, A. (Ana), Kogevinas, M. (Manolis), Penney, K.L. (Kathryn L.), Huff, C. (Chad), Teixeira, M.R. (Manuel R.), Multigner, L. (Luc), Leach, R.J. (Robin J.), Cannon-Albright, L.A. (Lisa), Brenner, H. (Hermann), John, E.M. (Esther), Kaneva, R. (Radka), Logothetis, N.K. (Nikos), Floris, O.A.M., De Ruyck, K. (Kim), Pandha, H. (Hardev), Razack, A. (Azad), Newcomb, L.F. (Lisa F.), Fowke, J.H. (Jay H.), Gamulin, M. (Marija), Usmani, N. (Nawaid), Claessens, F. (Frank), Gago-Dominguez, M. (Manuela), Townsend, P.A. (Paul A.), Bush, W.S. (William S.), Roobol-Bouts, M.J. (Monique), Parent, M.-É. (Marie-Élise), Hu, J.J. (Jennifer J.), Mills, I.G. (Ian G.), Andreassen, O.A. (Ole), Dale, A.M. (Anders), Seibert, T.M. (Tyler M.), Huynh-Le, M.-P. (Minh-Phuong), Fan, C.C. (Chun Chieh), Karunamuni, R. (Roshan), Thompson, W.K. (Wesley K.), Martinez, M.E. (Maria Elena), Eeles, R. (Rosalind), Kote-Jarai, Z., Muir, K. (Kenneth), Schleutker, J. (Johanna), Pashayan, N. (Nora), Batra, J. (Jyotsna), Grönberg, H. (Henrik), Neal, D.E. (David E.), Donovan, J.L. (Jenny L.), Hamdy, F.C. (Freddie C.), Martin, R.M. (Richard M.), Nielsen, S.F. (Sune F.), Nordestgaard, B.G. (Børge), Wiklund, F. (Fredrik), Tangen, C.M. (Catherine M.), Giles, G.G. (Graham G.), Wolk, K. (Kerstin), Albanes, D. (Demetrius), Travis, S.P.L. (Simon), Blot, W.J. (William), Zheng, W. (Wei), Sanderson, M. (Maureen), Stanford, J.L. (Janet L.), Mucci, L.A. (Lorelei A.), West, C.M.L. (Catharine M. L.), Kibel, A. (Adam), Cussenot, O. (Olivier), Berndt, S.I. (Sonja), Koutros, S. (Stella), Sørensen, K.D. (Karina Dalsgaard), Cybulski, C. (Cezary), Grindedal, E.M. (Eli Marie), Menegaux, F. (Florence), Khaw, K.-T. (Kay-Tee), Park, J.Y. (Jong Y.), Ingles, S.A. (Sue), Maier, C. (Christiane), Hamilton, R.J. (Robert J.), Thibodeau, S.N. (Stephen), Rosenstein, B.S. (Barry S.), Lu, Y.-J. (Yong-Jie), Watya, S. (Stephen), Vega, A. (Ana), Kogevinas, M. (Manolis), Penney, K.L. (Kathryn L.), Huff, C. (Chad), Teixeira, M.R. (Manuel R.), Multigner, L. (Luc), Leach, R.J. (Robin J.), Cannon-Albright, L.A. (Lisa), Brenner, H. (Hermann), John, E.M. (Esther), Kaneva, R. (Radka), Logothetis, N.K. (Nikos), Floris, O.A.M., De Ruyck, K. (Kim), Pandha, H. (Hardev), Razack, A. (Azad), Newcomb, L.F. (Lisa F.), Fowke, J.H. (Jay H.), Gamulin, M. (Marija), Usmani, N. (Nawaid), Claessens, F. (Frank), Gago-Dominguez, M. (Manuela), Townsend, P.A. (Paul A.), Bush, W.S. (William S.), Roobol-Bouts, M.J. (Monique), Parent, M.-É. (Marie-Élise), Hu, J.J. (Jennifer J.), Mills, I.G. (Ian G.), Andreassen, O.A. (Ole), Dale, A.M. (Anders), and Seibert, T.M. (Tyler M.)

Abstract

Genetic models for cancer have been evaluated using almost exclusively European data, which could exacerbate health disparities. A polygenic hazard score (PHS1) is associated with age at prostate cancer diagnosis and improves screening accuracy in Europeans. Here, we evaluate performance of PHS2 (PHS1, adapted for OncoArray) in a multi-ethnic dataset of 80,491 men (49,916 cases, 30,575 controls). PHS2 is associated with age at diagnosis of any and aggressive (Gleason score ≥ 7, stage T3-T4, PSA ≥ 10 ng/mL, or nodal/distant metastasis) cancer and prostate-cancer-specific death. Associations with cancer are significant within European (n = 71,856), Asian (n = 2,382), and African (n = 6,253) genetic ancestries (p < 10−180). Comparing the 80th/20th PHS2 percentiles, hazard ratios for prostate cancer, aggressive cancer, and prostate-cancer-specific death are 5.32, 5.88, and 5.68, respectively. Within European, Asian, and African ancestries, hazard ratios for prostate cancer are: 5.54, 4.49, and 2.54, respectively. PHS2 risk-stratifies men f

Published
2021
Full Text
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48. Polygenic hazard score is associated with prostate cancer in multi-ethnic populations.

Author

Huynh-Le M.-P., Fan C.C., Karunamuni R., Thompson W.K., Martinez M.E., Eeles R.A., Kote-Jarai Z., Muir K., Schleutker J., Pashayan N., Batra J., Gronberg H., Neal D.E., Donovan J.L., Hamdy F.C., Martin R.M., Nielsen S.F., Nordestgaard B.G., Wiklund F., Tangen C.M., Giles G.G., Wolk A., Albanes D., Travis R.C., Blot W.J., Zheng W., Sanderson M., Stanford J.L., Mucci L.A., West C.M.L., Kibel A.S., Cussenot O., Berndt S.I., Koutros S., Sorensen K.D., Cybulski C., Grindedal E.M., Menegaux F., Khaw K.-T., Park J.Y., Ingles S.A., Maier C., Hamilton R.J., Thibodeau S.N., Rosenstein B.S., Lu Y.-J., Watya S., Vega A., Kogevinas M., Penney K.L., Huff C., Teixeira M.R., Multigner L., Leach R.J., Cannon-Albright L., Brenner H., John E.M., Kaneva R., Logothetis C.J., Neuhausen S.L., De Ruyck K., Pandha H., Razack A., Newcomb L.F., Fowke J.H., Gamulin M., Usmani N., Claessens F., Gago-Dominguez M., Townsend P.A., Bush W.S., Roobol M.J., Parent M.-E., Hu J.J., Mills I.G., Andreassen O.A., Dale A.M., Seibert T.M., Huynh-Le M.-P., Fan C.C., Karunamuni R., Thompson W.K., Martinez M.E., Eeles R.A., Kote-Jarai Z., Muir K., Schleutker J., Pashayan N., Batra J., Gronberg H., Neal D.E., Donovan J.L., Hamdy F.C., Martin R.M., Nielsen S.F., Nordestgaard B.G., Wiklund F., Tangen C.M., Giles G.G., Wolk A., Albanes D., Travis R.C., Blot W.J., Zheng W., Sanderson M., Stanford J.L., Mucci L.A., West C.M.L., Kibel A.S., Cussenot O., Berndt S.I., Koutros S., Sorensen K.D., Cybulski C., Grindedal E.M., Menegaux F., Khaw K.-T., Park J.Y., Ingles S.A., Maier C., Hamilton R.J., Thibodeau S.N., Rosenstein B.S., Lu Y.-J., Watya S., Vega A., Kogevinas M., Penney K.L., Huff C., Teixeira M.R., Multigner L., Leach R.J., Cannon-Albright L., Brenner H., John E.M., Kaneva R., Logothetis C.J., Neuhausen S.L., De Ruyck K., Pandha H., Razack A., Newcomb L.F., Fowke J.H., Gamulin M., Usmani N., Claessens F., Gago-Dominguez M., Townsend P.A., Bush W.S., Roobol M.J., Parent M.-E., Hu J.J., Mills I.G., Andreassen O.A., Dale A.M., and Seibert T.M.

Abstract

Genetic models for cancer have been evaluated using almost exclusively European data, which could exacerbate health disparities. A polygenic hazard score (PHS1) is associated with age at prostate cancer diagnosis and improves screening accuracy in Europeans. Here, we evaluate performance of PHS2 (PHS1, adapted for OncoArray) in a multi-ethnic dataset of 80,491 men (49,916 cases, 30,575 controls). PHS2 is associated with age at diagnosis of any and aggressive (Gleason score >= 7, stage T3-T4, PSA >= 10 ng/mL, or nodal/distant metastasis) cancer and prostate-cancer-specific death. Associations with cancer are significant within European (n = 71,856), Asian (n = 2,382), and African (n = 6,253) genetic ancestries (p < 10-180). Comparing the 80th/20th PHS2 percentiles, hazard ratios for prostate cancer, aggressive cancer, and prostate-cancer-specific death are 5.32, 5.88, and 5.68, respectively. Within European, Asian, and African ancestries, hazard ratios for prostate cancer are: 5.54, 4.49, and 2.54, respectively. PHS2 risk-stratifies men for any, aggressive, and fatal prostate cancer in a multi-ethnic dataset.Copyright © 2021, The Author(s).

Published
2021

49. Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction (Nature Genetics, (2021), 53, 1, (65-75), 10.1038/s41588-020-00748-0).

Author

Lessel D., Townsend P.A., Aukim-Hastie C., Bush W.S., Aldrich M.C., Crawford D.C., Srivastava S., Cullen J.C., Petrovics G., Casey G., Roobol M.J., Jenster G., van Schaik R.H.N., Hu J.J., Sanderson M., Varma R., McKean-Cowdin R., Torres M., Mancuso N., Berndt S.I., Van Den Eeden S.K., Easton D.F., Chanock S.J., Cook M.B., Wiklund F., Nakagawa H., Witte J.S., Eeles R.A., Kote-Jarai Z., Haiman C.A., Conti D.V., Darst B.F., Moss L.C., Saunders E.J., Sheng X., Chou A., Schumacher F.R., Olama A.A.A., Benlloch S., Dadaev T., Brook M.N., Sahimi A., Hoffmann T.J., Takahashi A., Matsuda K., Momozawa Y., Fujita M., Muir K., Lophatananon A., Wan P., Le Marchand L., Wilkens L.R., Stevens V.L., Gapstur S.M., Carter B.D., Schleutker J., Tammela T.L.J., Sipeky C., Auvinen A., Giles G.G., Southey M.C., MacInnis R.J., Cybulski C., Wokolorczyk D., Lubinski J., Neal D.E., Donovan J.L., Hamdy F.C., Martin R.M., Nordestgaard B.G., Nielsen S.F., Weischer M., Bojesen S.E., Roder M.A., Iversen P., Batra J., Chambers S., Moya L., Horvath L., Clements J.A., Tilley W., Risbridger G.P., Gronberg H., Aly M., Szulkin R., Eklund M., Nordstrom T., Pashayan N., Dunning A.M., Ghoussaini M., Travis R.C., Key T.J., Riboli E., Park J.Y., Sellers T.A., Lin H.-Y., Albanes D., Weinstein S.J., Mucci L.A., Giovannucci E., Lindstrom S., Kraft P., Hunter D.J., Penney K.L., Turman C., Tangen C.M., Goodman P.J., Thompson I.M., Hamilton R.J., Fleshner N.E., Finelli A., Parent M.-E., Stanford J.L., Ostrander E.A., Geybels M.S., Koutros S., Freeman L.E.B., Stampfer M., Wolk A., Hakansson N., Andriole G.L., Hoover R.N., Machiela M.J., Sorensen K.D., Borre M., Blot W.J., Zheng W., Yeboah E.D., Mensah J.E., Lu Y.-J., Zhang H.-W., Feng N., Mao X., Wu Y., Zhao S.-C., Sun Z., Thibodeau S.N., McDonnell S.K., Schaid D.J., West C.M.L., Burnet N., Barnett G., Maier C., Schnoeller T., Luedeke M., Kibel A.S., Drake B.F., Cussenot O., Cancel-Tassin G., Menegaux F., Truong T., Koudou Y.A., John E.M., Grindedal E.M., Maehle L., Khaw K.-T., Ingles S.A., Stern M.C., Vega A., Gomez-Caamano A., Fachal L., Rosenstein B.S., Kerns S.L., Ostrer H., Teixeira M.R., Paulo P., Brandao A., Watya S., Lubwama A., Bensen J.T., Fontham E.T.H., Mohler J., Taylor J.A., Kogevinas M., Llorca J., Castano-Vinyals G., Cannon-Albright L., Teerlink C.C., Huff C.D., Strom S.S., Multigner L., Blanchet P., Brureau L., Kaneva R., Slavov C., Mitev V., Leach R.J., Weaver B., Brenner H., Cuk K., Holleczek B., Saum K.-U., Klein E.A., Hsing A.W., Kittles R.A., Murphy A.B., Logothetis C.J., Kim J., Neuhausen S.L., Steele L., Ding Y.C., Isaacs W.B., Nemesure B., Hennis A.J.M., Carpten J., Pandha H., Michael A., De Ruyck K., De Meerleer G., Ost P., Xu J., Razack A., Lim J., Teo S.-H., Newcomb L.F., Lin D.W., Fowke J.H., Neslund-Dudas C., Rybicki B.A., Gamulin M., Kulis T., Usmani N., Singhal S., Parliament M., Claessens F., Joniau S., Van den Broeck T., Gago-Dominguez M., Castelao J.E., Martinez M.E., Larkin S., Lessel D., Townsend P.A., Aukim-Hastie C., Bush W.S., Aldrich M.C., Crawford D.C., Srivastava S., Cullen J.C., Petrovics G., Casey G., Roobol M.J., Jenster G., van Schaik R.H.N., Hu J.J., Sanderson M., Varma R., McKean-Cowdin R., Torres M., Mancuso N., Berndt S.I., Van Den Eeden S.K., Easton D.F., Chanock S.J., Cook M.B., Wiklund F., Nakagawa H., Witte J.S., Eeles R.A., Kote-Jarai Z., Haiman C.A., Conti D.V., Darst B.F., Moss L.C., Saunders E.J., Sheng X., Chou A., Schumacher F.R., Olama A.A.A., Benlloch S., Dadaev T., Brook M.N., Sahimi A., Hoffmann T.J., Takahashi A., Matsuda K., Momozawa Y., Fujita M., Muir K., Lophatananon A., Wan P., Le Marchand L., Wilkens L.R., Stevens V.L., Gapstur S.M., Carter B.D., Schleutker J., Tammela T.L.J., Sipeky C., Auvinen A., Giles G.G., Southey M.C., MacInnis R.J., Cybulski C., Wokolorczyk D., Lubinski J., Neal D.E., Donovan J.L., Hamdy F.C., Martin R.M., Nordestgaard B.G., Nielsen S.F., Weischer M., Bojesen S.E., Roder M.A., Iversen P., Batra J., Chambers S., Moya L., Horvath L., Clements J.A., Tilley W., Risbridger G.P., Gronberg H., Aly M., Szulkin R., Eklund M., Nordstrom T., Pashayan N., Dunning A.M., Ghoussaini M., Travis R.C., Key T.J., Riboli E., Park J.Y., Sellers T.A., Lin H.-Y., Albanes D., Weinstein S.J., Mucci L.A., Giovannucci E., Lindstrom S., Kraft P., Hunter D.J., Penney K.L., Turman C., Tangen C.M., Goodman P.J., Thompson I.M., Hamilton R.J., Fleshner N.E., Finelli A., Parent M.-E., Stanford J.L., Ostrander E.A., Geybels M.S., Koutros S., Freeman L.E.B., Stampfer M., Wolk A., Hakansson N., Andriole G.L., Hoover R.N., Machiela M.J., Sorensen K.D., Borre M., Blot W.J., Zheng W., Yeboah E.D., Mensah J.E., Lu Y.-J., Zhang H.-W., Feng N., Mao X., Wu Y., Zhao S.-C., Sun Z., Thibodeau S.N., McDonnell S.K., Schaid D.J., West C.M.L., Burnet N., Barnett G., Maier C., Schnoeller T., Luedeke M., Kibel A.S., Drake B.F., Cussenot O., Cancel-Tassin G., Menegaux F., Truong T., Koudou Y.A., John E.M., Grindedal E.M., Maehle L., Khaw K.-T., Ingles S.A., Stern M.C., Vega A., Gomez-Caamano A., Fachal L., Rosenstein B.S., Kerns S.L., Ostrer H., Teixeira M.R., Paulo P., Brandao A., Watya S., Lubwama A., Bensen J.T., Fontham E.T.H., Mohler J., Taylor J.A., Kogevinas M., Llorca J., Castano-Vinyals G., Cannon-Albright L., Teerlink C.C., Huff C.D., Strom S.S., Multigner L., Blanchet P., Brureau L., Kaneva R., Slavov C., Mitev V., Leach R.J., Weaver B., Brenner H., Cuk K., Holleczek B., Saum K.-U., Klein E.A., Hsing A.W., Kittles R.A., Murphy A.B., Logothetis C.J., Kim J., Neuhausen S.L., Steele L., Ding Y.C., Isaacs W.B., Nemesure B., Hennis A.J.M., Carpten J., Pandha H., Michael A., De Ruyck K., De Meerleer G., Ost P., Xu J., Razack A., Lim J., Teo S.-H., Newcomb L.F., Lin D.W., Fowke J.H., Neslund-Dudas C., Rybicki B.A., Gamulin M., Kulis T., Usmani N., Singhal S., Parliament M., Claessens F., Joniau S., Van den Broeck T., Gago-Dominguez M., Castelao J.E., Martinez M.E., and Larkin S.

Abstract

In the version of this article originally published, the names of the equally contributing authors and jointly supervising authors were switched. The correct affiliations are: "These authors contributed equally: David V. Conti, Burcu F. Darst. These authors jointly supervised this work: David V. Conti, Rosalind A. Eeles, Zsofia Kote-Jarai, Christopher A. Haiman." The error has been corrected in the HTML and PDF versions of the article.Copyright © 2021, The Author(s), under exclusive licence to Springer Nature America, Inc.

Published
2021

50. Two-stage Study of Familial Prostate Cancer by Whole-exome Sequencing and Custom Capture Identifies 10 Novel Genes Associated with the Risk of Prostate Cancer[Formula presented].

Author

Schleutker J., Giles G.G., MacInnis R.J., Southey M.C., Nguyen-Dumont T., Cancel-Tassin G., Cussenot O., Whittemore A.S., Sieh W., Ioannidis N.M., Hsieh C.-L., Stanford J.L., Fogarty Z., Cropp C.D., Carpten J., Hoegel J., Eeles R., Kote-Jarai Z., Ackerman M.J., Klein C.J., Mandal D., Cooney K.A., Bailey-Wilson J.E., Helfand B., Catalona W.J., Wiklund F., Riska S., Bahetti S., Larson M.C., Cannon Albright L., Teerlink C., Xu J., Isaacs W., Ostrander E.A., Thibodeau S.N., Schaid D.J., McDonnell S.K., FitzGerald L.M., DeRycke L., Schleutker J., Giles G.G., MacInnis R.J., Southey M.C., Nguyen-Dumont T., Cancel-Tassin G., Cussenot O., Whittemore A.S., Sieh W., Ioannidis N.M., Hsieh C.-L., Stanford J.L., Fogarty Z., Cropp C.D., Carpten J., Hoegel J., Eeles R., Kote-Jarai Z., Ackerman M.J., Klein C.J., Mandal D., Cooney K.A., Bailey-Wilson J.E., Helfand B., Catalona W.J., Wiklund F., Riska S., Bahetti S., Larson M.C., Cannon Albright L., Teerlink C., Xu J., Isaacs W., Ostrander E.A., Thibodeau S.N., Schaid D.J., McDonnell S.K., FitzGerald L.M., and DeRycke L.

Abstract

Background: Family history of prostate cancer (PCa) is a well-known risk factor, and both common and rare genetic variants are associated with the disease. Objective(s): To detect new genetic variants associated with PCa, capitalizing on the role of family history and more aggressive PCa. Design, setting, and participants: A two-stage design was used. In stage one, whole-exome sequencing was used to identify potential risk alleles among affected men with a strong family history of disease or with more aggressive disease (491 cases and 429 controls). Aggressive disease was based on a sum of scores for Gleason score, node status, metastasis, tumor stage, prostate-specific antigen at diagnosis, systemic recurrence, and time to PCa death. Genes identified in stage one were screened in stage two using a custom-capture design in an independent set of 2917 cases and 1899 controls. Outcome measurements and statistical analysis: Frequencies of genetic variants (singly or jointly in a gene) were compared between cases and controls. Results and limitations: Eleven genes previously reported to be associated with PCa were detected (ATM, BRCA2, HOXB13, FAM111A, EMSY, HNF1B, KLK3, MSMB, PCAT1, PRSS3, and TERT), as well as an additional 10 novel genes (PABPC1, QK1, FAM114A1, MUC6, MYCBP2, RAPGEF4, RNASEH2B, ULK4, XPO7, and THAP3). Of these 10 novel genes, all but PABPC1 and ULK4 were primarily associated with the risk of aggressive PCa. Conclusion(s): Our approach demonstrates the advantage of gene sequencing in the search for genetic variants associated with PCa and the benefits of sampling patients with a strong family history of disease or an aggressive form of disease. Patient Summary: Multiple genes are associated with prostate cancer (PCa) among men with a strong family history of this disease or among men with an aggressive form of PCa. Family history of prostate cancer (PCa) is a well-known risk factor. By capitalizing on affected men with a strong family history of disease

Published
2021

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