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1. Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry

Author: Darst, BF, Shen, J, Madduri, RK, Rodriguez, AA, Xiao, Y, Sheng, X, Saunders, EJ, Dadaev, T, Brook, MN, Hoffmann, TJ, Muir, K, Wan, P, Le Marchand, L, Wilkens, L, Wang, Y, Schleutker, J, MacInnis, RJ, Cybulski, C, Neal, DE, Nordestgaard, BG, Nielsen, SF, Batra, J, Clements, JA, Gronberg, H, Pashayan, N, Travis, RC, Park, JY, Albanes, D, Weinstein, S, Mucci, LA, Hunter, DJ, Penney, KL, Tangen, CM, Hamilton, RJ, Parent, M-E, Stanford, JL, Koutros, S, Wolk, A, Sorensen, KD, Blot, WJ, Yeboah, ED, Mensah, JE, Lu, Y-J, Schaid, DJ, Thibodeau, SN, West, CM, Maier, C, Kibel, AS, Cancel-Tassin, G, Menegaux, F, John, EM, Grindedal, EM, Khaw, K-T, Ingles, SA, Vega, A, Rosenstein, BS, Teixeira, MR, Kogevinas, M, Cannon-Albright, L, Huff, C, Multigner, L, Kaneva, R, Leach, RJ, Brenner, H, Hsing, AW, Kittles, RA, Murphy, AB, Logothetis, CJ, Neuhausen, SL, Isaacs, WB, Nemesure, B, Hennis, AJ, Carpten, J, Pandha, H, De Ruyck, K, Xu, J, Razack, A, Teo, S-H, Newcomb, LF, Fowke, JH, Neslund-Dudas, C, Rybicki, BA, Gamulin, M, Usmani, N, Claessens, F, Gago-Dominguez, M, Castelao, JE, Townsend, PA, Crawford, DC, Petrovics, G, Casey, G, Roobol, MJ, Hu, JF, Berndt, SI, van den Eeden, SK, Easton, DF, Chanock, SJ, Cook, MB, Wiklund, F, Witte, JS, Eeles, RA, Kote-Jarai, Z, Watya, S, Gaziano, JM, Justice, AC, Conti, DV, Haiman, CA, Darst, BF, Shen, J, Madduri, RK, Rodriguez, AA, Xiao, Y, Sheng, X, Saunders, EJ, Dadaev, T, Brook, MN, Hoffmann, TJ, Muir, K, Wan, P, Le Marchand, L, Wilkens, L, Wang, Y, Schleutker, J, MacInnis, RJ, Cybulski, C, Neal, DE, Nordestgaard, BG, Nielsen, SF, Batra, J, Clements, JA, Gronberg, H, Pashayan, N, Travis, RC, Park, JY, Albanes, D, Weinstein, S, Mucci, LA, Hunter, DJ, Penney, KL, Tangen, CM, Hamilton, RJ, Parent, M-E, Stanford, JL, Koutros, S, Wolk, A, Sorensen, KD, Blot, WJ, Yeboah, ED, Mensah, JE, Lu, Y-J, Schaid, DJ, Thibodeau, SN, West, CM, Maier, C, Kibel, AS, Cancel-Tassin, G, Menegaux, F, John, EM, Grindedal, EM, Khaw, K-T, Ingles, SA, Vega, A, Rosenstein, BS, Teixeira, MR, Kogevinas, M, Cannon-Albright, L, Huff, C, Multigner, L, Kaneva, R, Leach, RJ, Brenner, H, Hsing, AW, Kittles, RA, Murphy, AB, Logothetis, CJ, Neuhausen, SL, Isaacs, WB, Nemesure, B, Hennis, AJ, Carpten, J, Pandha, H, De Ruyck, K, Xu, J, Razack, A, Teo, S-H, Newcomb, LF, Fowke, JH, Neslund-Dudas, C, Rybicki, BA, Gamulin, M, Usmani, N, Claessens, F, Gago-Dominguez, M, Castelao, JE, Townsend, PA, Crawford, DC, Petrovics, G, Casey, G, Roobol, MJ, Hu, JF, Berndt, SI, van den Eeden, SK, Easton, DF, Chanock, SJ, Cook, MB, Wiklund, F, Witte, JS, Eeles, RA, Kote-Jarai, Z, Watya, S, Gaziano, JM, Justice, AC, Conti, DV, and Haiman, CA
Abstract: Genome-wide polygenic risk scores (GW-PRSs) have been reported to have better predictive ability than PRSs based on genome-wide significance thresholds across numerous traits. We compared the predictive ability of several GW-PRS approaches to a recently developed PRS of 269 established prostate cancer-risk variants from multi-ancestry GWASs and fine-mapping studies (PRS269). GW-PRS models were trained with a large and diverse prostate cancer GWAS of 107,247 cases and 127,006 controls that we previously used to develop the multi-ancestry PRS269. Resulting models were independently tested in 1,586 cases and 1,047 controls of African ancestry from the California Uganda Study and 8,046 cases and 191,825 controls of European ancestry from the UK Biobank and further validated in 13,643 cases and 210,214 controls of European ancestry and 6,353 cases and 53,362 controls of African ancestry from the Million Veteran Program. In the testing data, the best performing GW-PRS approach had AUCs of 0.656 (95% CI = 0.635-0.677) in African and 0.844 (95% CI = 0.840-0.848) in European ancestry men and corresponding prostate cancer ORs of 1.83 (95% CI = 1.67-2.00) and 2.19 (95% CI = 2.14-2.25), respectively, for each SD unit increase in the GW-PRS. Compared to the GW-PRS, in African and European ancestry men, the PRS269 had larger or similar AUCs (AUC = 0.679, 95% CI = 0.659-0.700 and AUC = 0.845, 95% CI = 0.841-0.849, respectively) and comparable prostate cancer ORs (OR = 2.05, 95% CI = 1.87-2.26 and OR = 2.21, 95% CI = 2.16-2.26, respectively). Findings were similar in the validation studies. This investigation suggests that current GW-PRS approaches may not improve the ability to predict prostate cancer risk compared to the PRS269 developed from multi-ancestry GWASs and fine-mapping.
Published: 2023

2. 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

3. 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

4. Circumcision and Risk of HIV Among Males from Ontario, Canada. Reply

Author: Nayan, M, primary, Hamilton, RJ, additional, Juurlink, DN, additional, Austin, PC, additional, and Jarvi, KA, additional
Published: 2021
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5. Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer

Author: Karunamuni, RA, Huynh-Le, M-P, Fan, CC, Thompson, W, Eeles, RA, Kote-Jarai, Z, Muir, K, Lophatananon, A, Schleutker, J, Pashayan, N, Batra, J, Groenberg, H, Walsh, EI, Turner, EL, Lane, A, Martin, RM, Neal, DE, Donovan, JL, Hamdy, FC, Nordestgaard, BG, Tangen, CM, MacInnis, RJ, Wolk, A, Albanes, D, Haiman, CA, Travis, RC, Stanford, JL, Mucci, LA, West, CML, Nielsen, SF, Kibel, AS, Wiklund, F, Cussenot, O, Berndt, SI, Koutros, S, Sorensen, KD, Cybulski, C, Grindedal, EM, Park, JY, Ingles, SA, Maier, C, Hamilton, RJ, Rosenstein, BS, Vega, A, Kogevinas, M, Penney, KL, Teixeira, MR, Brenner, H, John, EM, Kaneva, R, Logothetis, CJ, Neuhausen, SL, Razack, A, Newcomb, LF, Gamulin, M, Usmani, N, Claessens, F, Gago-Dominguez, M, Townsend, PA, Roobol, MJ, Zheng, W, Mills, IG, Andreassen, OA, Dale, AM, Seibert, TM, Karunamuni, RA, Huynh-Le, M-P, Fan, CC, Thompson, W, Eeles, RA, Kote-Jarai, Z, Muir, K, Lophatananon, A, Schleutker, J, Pashayan, N, Batra, J, Groenberg, H, Walsh, EI, Turner, EL, Lane, A, Martin, RM, Neal, DE, Donovan, JL, Hamdy, FC, Nordestgaard, BG, Tangen, CM, MacInnis, RJ, Wolk, A, Albanes, D, Haiman, CA, Travis, RC, Stanford, JL, Mucci, LA, West, CML, Nielsen, SF, Kibel, AS, Wiklund, F, Cussenot, O, Berndt, SI, Koutros, S, Sorensen, KD, Cybulski, C, Grindedal, EM, Park, JY, Ingles, SA, Maier, C, Hamilton, RJ, Rosenstein, BS, Vega, A, Kogevinas, M, Penney, KL, Teixeira, MR, Brenner, H, John, EM, Kaneva, R, Logothetis, CJ, Neuhausen, SL, Razack, A, Newcomb, LF, Gamulin, M, Usmani, N, Claessens, F, Gago-Dominguez, M, Townsend, PA, Roobol, MJ, Zheng, W, Mills, IG, Andreassen, OA, Dale, AM, and Seibert, TM
Abstract: BACKGROUND: Polygenic hazard scores (PHS) can identify individuals with increased risk of prostate cancer. We estimated the benefit of additional SNPs on performance of a previously validated PHS (PHS46). MATERIALS AND METHOD: 180 SNPs, shown to be previously associated with prostate cancer, were used to develop a PHS model in men with European ancestry. A machine-learning approach, LASSO-regularized Cox regression, was used to select SNPs and to estimate their coefficients in the training set (75,596 men). Performance of the resulting model was evaluated in the testing/validation set (6,411 men) with two metrics: (1) hazard ratios (HRs) and (2) positive predictive value (PPV) of prostate-specific antigen (PSA) testing. HRs were estimated between individuals with PHS in the top 5% to those in the middle 40% (HR95/50), top 20% to bottom 20% (HR80/20), and bottom 20% to middle 40% (HR20/50). PPV was calculated for the top 20% (PPV80) and top 5% (PPV95) of PHS as the fraction of individuals with elevated PSA that were diagnosed with clinically significant prostate cancer on biopsy. RESULTS: 166 SNPs had non-zero coefficients in the Cox model (PHS166). All HR metrics showed significant improvements for PHS166 compared to PHS46: HR95/50 increased from 3.72 to 5.09, HR80/20 increased from 6.12 to 9.45, and HR20/50 decreased from 0.41 to 0.34. By contrast, no significant differences were observed in PPV of PSA testing for clinically significant prostate cancer. CONCLUSIONS: Incorporating 120 additional SNPs (PHS166 vs PHS46) significantly improved HRs for prostate cancer, while PPV of PSA testing remained the same.
Published: 2021

6. Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

Author: Conti, D, Darst, BF, Moss, LC, Saunders, EJ, Sheng, X, Chou, A, Schumacher, FR, Al Olama, AA, Benlloch, S, Dadaev, T, Brook, MN, Sahimi, A, Hoffmann, TJ, Takahashi, A, Matsuda, K, Momozawa, Y, Fujita, M, Muir, K, Lophatananon, A, Wan, P, Le Marchand, L, Wilkens, LR, Stevens, VL, Gapstur, SM, Carter, BD, Schleutker, J, Tammela, TLJ, Sipeky, C, Auvinen, A, Giles, GG, Southey, MC, MacInnis, RJ, Cybulski, C, Wokolorczyk, D, Lubinski, J, Neal, DE, Donovan, JL, Hamdy, FC, Martin, RM, Nordestgaard, BG, Nielsen, SF, Weischer, M, Bojesen, SE, Roder, MA, Iversen, P, Batra, J, Chambers, S, Moya, L, Horvath, L, Clements, JA, Tilley, 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, SJ, 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-E, Stanford, JL, Ostrander, EA, Geybels, MS, Koutros, S, Freeman, LEB, Stampfer, M, Wolk, A, Hakansson, N, Andriole, GL, Hoover, RN, Machiela, MJ, Sorensen, 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, Burnet, N, 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, Gomez-Caamano, A, Fachal, L, Rosenstein, BS, Kerns, SL, Ostrer, H, Teixeira, MR, Paulo, P, Brandao, A, Watya, S, Lubwama, A, Bensen, JT, Fontham, ETH, Mohler, J, Taylor, JA, Kogevinas, M, Llorca, J, Castano-Vinyals, G, Cannon-Albright, L, Teerlink, CC, Huff, CD, Strom, SS, Multigner, L, Blanchet, P, Brureau, L, Kaneva, R, Slavov, C, Mitev, V, Leach, RJ, Weaver, B, Brenner, H, Cuk, K, Holleczek, B, Saum, K-U, 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, C, Rybicki, BA, Gamulin, M, Lessel, D, Kulis, T, Usmani, N, 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, JC, Petrovics, G, Casey, G, Roobol, MJ, Jenster, G, van Schaik, RHN, Hu, JJ, Sanderson, M, Varma, R, McKean-Cowdin, R, Torres, M, Mancuso, N, Berndt, S, Van den Eeden, SK, Easton, DF, Chanock, SJ, Cook, MB, Wiklund, F, Nakagawa, H, Witte, JS, Eeles, RA, Kote-Jarai, Z, Haiman, CA, Conti, D, Darst, BF, Moss, LC, Saunders, EJ, Sheng, X, Chou, A, Schumacher, FR, Al Olama, AA, Benlloch, S, Dadaev, T, Brook, MN, Sahimi, A, Hoffmann, TJ, Takahashi, A, Matsuda, K, Momozawa, Y, Fujita, M, Muir, K, Lophatananon, A, Wan, P, Le Marchand, L, Wilkens, LR, Stevens, VL, Gapstur, SM, Carter, BD, Schleutker, J, Tammela, TLJ, Sipeky, C, Auvinen, A, Giles, GG, Southey, MC, MacInnis, RJ, Cybulski, C, Wokolorczyk, D, Lubinski, J, Neal, DE, Donovan, JL, Hamdy, FC, Martin, RM, Nordestgaard, BG, Nielsen, SF, Weischer, M, Bojesen, SE, Roder, MA, Iversen, P, Batra, J, Chambers, S, Moya, L, Horvath, L, Clements, JA, Tilley, 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, SJ, 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-E, Stanford, JL, Ostrander, EA, Geybels, MS, Koutros, S, Freeman, LEB, Stampfer, M, Wolk, A, Hakansson, N, Andriole, GL, Hoover, RN, Machiela, MJ, Sorensen, 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, Burnet, N, 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, Gomez-Caamano, A, Fachal, L, Rosenstein, BS, Kerns, SL, Ostrer, H, Teixeira, MR, Paulo, P, Brandao, A, Watya, S, Lubwama, A, Bensen, JT, Fontham, ETH, Mohler, J, Taylor, JA, Kogevinas, M, Llorca, J, Castano-Vinyals, G, Cannon-Albright, L, Teerlink, CC, Huff, CD, Strom, SS, Multigner, L, Blanchet, P, Brureau, L, Kaneva, R, Slavov, C, Mitev, V, Leach, RJ, Weaver, B, Brenner, H, Cuk, K, Holleczek, B, Saum, K-U, 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, C, Rybicki, BA, Gamulin, M, Lessel, D, Kulis, T, Usmani, N, 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, JC, Petrovics, G, Casey, G, Roobol, MJ, Jenster, G, van Schaik, RHN, Hu, JJ, Sanderson, M, Varma, R, McKean-Cowdin, R, Torres, M, Mancuso, N, Berndt, S, Van den Eeden, SK, Easton, DF, Chanock, SJ, Cook, MB, Wiklund, F, Nakagawa, H, Witte, JS, Eeles, RA, Kote-Jarai, Z, and Haiman, CA
Abstract: Prostate cancer is a highly heritable disease with large disparities in incidence rates across ancestry populations. We conducted a multiancestry meta-analysis of prostate cancer genome-wide association studies (107,247 cases and 127,006 controls) and identified 86 new genetic risk variants independently associated with prostate cancer risk, bringing the total to 269 known risk variants. The top genetic risk score (GRS) decile was associated with odds ratios that ranged from 5.06 (95% confidence interval (CI), 4.84-5.29) for men of European ancestry to 3.74 (95% CI, 3.36-4.17) for men of African ancestry. Men of African ancestry were estimated to have a mean GRS that was 2.18-times higher (95% CI, 2.14-2.22), and men of East Asian ancestry 0.73-times lower (95% CI, 0.71-0.76), than men of European ancestry. These findings support the role of germline variation contributing to population differences in prostate cancer risk, with the GRS offering an approach for personalized risk prediction.
Published: 2021

7. The Prognostic Value of Neutrophil-to-Lymphocyte Ratio in Metastatic Testicular Cancer

Author: Ribnikar, D, Stukalin, I, Bedard, PL, Hamilton, RJ, Jewett, M, Warde, P, Chung, P, Anson-Cartwright, L, Templeton, AJ, Amir, E, Hansen, AR, Heng, DYC, Lewin, J, Ribnikar, D, Stukalin, I, Bedard, PL, Hamilton, RJ, Jewett, M, Warde, P, Chung, P, Anson-Cartwright, L, Templeton, AJ, Amir, E, Hansen, AR, Heng, DYC, and Lewin, J
Abstract: We investigated the prognostic utility of pre-chemotherapy neutrophil-to-lymphocyte ratio (NLR) in patients with metastatic germ cell tumors (GCTs) undergoing first-line chemotherapy. We utilized two institutional databases to analyze the pretreatment-derived NLR (dNLR). Predictive accuracy was evaluated using the Cox proportional hazard model adjusted for the international germ cell cancer collaborative group (IGCCCG) risk classification. Discriminatory accuracy was evaluated by determining the area under the receiver operating characteristic curve (AUROC). In total, 569 of 690 patients had available dNLR (IGCCCG: good, 64%; intermediate, 21%; poor, 16%). The 5-year and 10-year overall survivals (OSs) for good, intermediate, and poor risk groups were 96.2%, 92.8%, and 62.7% and 93.9%, 90.3%, and 62.7%, respectively. A dNLR of 2 provided the best discriminatory accuracy with an AUROC of 0.58 (95% CI: 0.52-0.65, p = 0.01) for progression-free survival (PFS), whereas for OS, a dNLR of 3 provided the best discriminatory accuracy with an AUROC of 0.62 (95% CI: 0.53-0.70, p < 0.01). A dNLR > 2 was associated with a hazard ratio (HR) of 1.99 (95% CI: 1.27-3.12, p < 0.01) for PFS, which lost its effect after adjustment for IGCCCG (HR: 1.44, 95% CI: 0.90-2.30, p = 0.13). For OS, a dNLR >3 was associated with an HR of 3.00 (95% CI: 1.79-5.01, p < 0.01), but lost its effect after adjustment for IGCCCG. Systemic inflammation plays a role in metastatic GCT, but its prognostic utility beyond established algorithms is limited. The general prognostic value of NLR can be seen across a number of tumors, although the consistency and magnitude of the effect differ according to cancer type, disease stage, and treatment received. We identified that an elevated NLR was associated with an adverse PFS and OS, but not independent of the IGCCCG risk classification. dNLRs >2 and >3 were associated with an adverse PFS and OS, respectively, in patients with metastatic GCT receiving first-line c
Published: 2021

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

Author: Huynh-Le, M-P, Fan, CC, Karunamuni, R, Thompson, WK, Martinez, ME, Eeles, RA, Kote-Jarai, Z, Muir, K, Schleutker, J, Pashayan, N, Batra, J, Gronberg, H, Neal, DE, Donovan, JL, Hamdy, FC, Martin, RM, Nielsen, SF, Nordestgaard, BG, Wiklund, F, Tangen, CM, Giles, GG, Wolk, A, Albanes, D, Travis, RC, Blot, WJ, Zheng, W, Sanderson, M, Stanford, JL, Mucci, LA, West, CML, Kibel, AS, Cussenot, O, Berndt, SI, Koutros, S, Sorensen, KD, Cybulski, C, Grindedal, EM, Menegaux, F, Khaw, K-T, Park, JY, Ingles, SA, Maier, C, Hamilton, RJ, Thibodeau, SN, Rosenstein, BS, Lu, Y-J, Watya, S, Vega, A, Kogevinas, M, Penney, KL, Huff, C, Teixeira, MR, Multigner, L, Leach, RJ, Cannon-Albright, L, Brenner, H, John, EM, Kaneva, R, Logothetis, CJ, Neuhausen, SL, De Ruyck, K, Pandha, H, Razack, A, Newcomb, LF, Fowke, JH, Gamulin, M, Usmani, N, Claessens, F, Gago-Dominguez, M, Townsend, PA, Bush, WS, Roobol, MJ, Parent, M-E, Hu, JJ, Mills, IG, Andreassen, OA, Dale, AM, Seibert, TM, Huynh-Le, M-P, Fan, CC, Karunamuni, R, Thompson, WK, Martinez, ME, Eeles, RA, Kote-Jarai, Z, Muir, K, Schleutker, J, Pashayan, N, Batra, J, Gronberg, H, Neal, DE, Donovan, JL, Hamdy, FC, Martin, RM, Nielsen, SF, Nordestgaard, BG, Wiklund, F, Tangen, CM, Giles, GG, Wolk, A, Albanes, D, Travis, RC, Blot, WJ, Zheng, W, Sanderson, M, Stanford, JL, Mucci, LA, West, CML, Kibel, AS, Cussenot, O, Berndt, SI, Koutros, S, Sorensen, KD, Cybulski, C, Grindedal, EM, Menegaux, F, Khaw, K-T, Park, JY, Ingles, SA, Maier, C, Hamilton, RJ, Thibodeau, SN, Rosenstein, BS, Lu, Y-J, Watya, S, Vega, A, Kogevinas, M, Penney, KL, Huff, C, Teixeira, MR, Multigner, L, Leach, RJ, Cannon-Albright, L, Brenner, H, John, EM, Kaneva, R, Logothetis, CJ, Neuhausen, SL, De Ruyck, K, Pandha, H, Razack, A, Newcomb, LF, Fowke, JH, Gamulin, M, Usmani, N, Claessens, F, Gago-Dominguez, M, Townsend, PA, Bush, WS, Roobol, MJ, Parent, M-E, Hu, JJ, Mills, IG, Andreassen, OA, Dale, AM, and Seibert, TM
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.
Published: 2021

9. Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

Author: Conti, DV, Darst, BF, Moss, LC, Saunders, EJ, Sheng, X, Chou, A, Schumacher, FR, Olama, AAA, Benlloch, S, Dadaev, T, Brook, MN, Sahimi, A, Hoffmann, TJ, Takahashi, A, Matsuda, K, Momozawa, Y, Fujita, M, Muir, K, Lophatananon, A, Wan, P, Le Marchand, L, Wilkens, LR, Stevens, VL, Gapstur, SM, Carter, BD, Schleutker, J, Tammela, TLJ, Sipeky, C, Auvinen, A, Giles, GG, Southey, MC, MacInnis, RJ, Cybulski, C, Wokołorczyk, D, Lubiński, J, Neal, DE, Donovan, JL, Hamdy, FC, Martin, RM, Nordestgaard, BG, Nielsen, SF, Weischer, M, Bojesen, SE, Røder, MA, Iversen, P, Batra, J, Chambers, S, Moya, L, Horvath, L, Clements, JA, Tilley, W, Risbridger, GP, Gronberg, H, Aly, M, Szulkin, R, Eklund, M, Nordström, T, Pashayan, N, Dunning, AM, Ghoussaini, M, Travis, RC, Key, TJ, Riboli, E, Park, JY, Sellers, TA, Lin, H-Y, Albanes, D, Weinstein, SJ, 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, Geybels, MS, Koutros, S, Freeman, LEB, 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, Burnet, N, 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, Fontham, ETH, Mohler, J, Taylor, JA, Kogevinas, M, Llorca, J, Castaño-Vinyals, G, Cannon-Albright, L, Teerlink, CC, Huff, CD, Strom, SS, Multigner, L, Blanchet, P, Brureau, L, Kaneva, R, Slavov, C, Mitev, V, Leach, RJ, Weaver, B, Brenner, H, Cuk, K, Holleczek, B, Saum, K-U, 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, C, Rybicki, BA, Gamulin, M, Lessel, D, Kulis, T, Usmani, N, 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, JC, Petrovics, G, Casey, G, Roobol, MJ, Jenster, G, van Schaik, RHN, Hu, JJ, Sanderson, M, Varma, R, McKean-Cowdin, R, Torres, M, Mancuso, N, Berndt, SI, Van Den Eeden, SK, Easton, DF, Chanock, SJ, Cook, MB, Wiklund, F, Nakagawa, H, Witte, JS, Eeles, RA, Kote-Jarai, Z, Haiman, CA, Conti, DV, Darst, BF, Moss, LC, Saunders, EJ, Sheng, X, Chou, A, Schumacher, FR, Olama, AAA, Benlloch, S, Dadaev, T, Brook, MN, Sahimi, A, Hoffmann, TJ, Takahashi, A, Matsuda, K, Momozawa, Y, Fujita, M, Muir, K, Lophatananon, A, Wan, P, Le Marchand, L, Wilkens, LR, Stevens, VL, Gapstur, SM, Carter, BD, Schleutker, J, Tammela, TLJ, Sipeky, C, Auvinen, A, Giles, GG, Southey, MC, MacInnis, RJ, Cybulski, C, Wokołorczyk, D, Lubiński, J, Neal, DE, Donovan, JL, Hamdy, FC, Martin, RM, Nordestgaard, BG, Nielsen, SF, Weischer, M, Bojesen, SE, Røder, MA, Iversen, P, Batra, J, Chambers, S, Moya, L, Horvath, L, Clements, JA, Tilley, W, Risbridger, GP, Gronberg, H, Aly, M, Szulkin, R, Eklund, M, Nordström, T, Pashayan, N, Dunning, AM, Ghoussaini, M, Travis, RC, Key, TJ, Riboli, E, Park, JY, Sellers, TA, Lin, H-Y, Albanes, D, Weinstein, SJ, 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, Geybels, MS, Koutros, S, Freeman, LEB, 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, Burnet, N, 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, Fontham, ETH, Mohler, J, Taylor, JA, Kogevinas, M, Llorca, J, Castaño-Vinyals, G, Cannon-Albright, L, Teerlink, CC, Huff, CD, Strom, SS, Multigner, L, Blanchet, P, Brureau, L, Kaneva, R, Slavov, C, Mitev, V, Leach, RJ, Weaver, B, Brenner, H, Cuk, K, Holleczek, B, Saum, K-U, 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, C, Rybicki, BA, Gamulin, M, Lessel, D, Kulis, T, Usmani, N, 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, JC, Petrovics, G, Casey, G, Roobol, MJ, Jenster, G, van Schaik, RHN, Hu, JJ, Sanderson, M, Varma, R, McKean-Cowdin, R, Torres, M, Mancuso, N, Berndt, SI, Van Den Eeden, SK, Easton, DF, Chanock, SJ, Cook, MB, Wiklund, F, Nakagawa, H, Witte, JS, Eeles, RA, Kote-Jarai, Z, and Haiman, CA
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.
Published: 2021

10. Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction.

Author: Conti, DV, Darst, BF, Moss, LC, Saunders, EJ, Sheng, X, Chou, A, Schumacher, FR, Olama, AAA, Benlloch, S, Dadaev, T, Brook, MN, Zhang, H-W, Feng, N, Mao, X, Wu, Y, Zhao, S-C, Sun, Z, Thibodeau, SN, McDonnell, SK, Schaid, DJ, West, CML, Sahimi, A, Burnet, N, Barnett, G, Maier, C, Schnoeller, T, Luedeke, M, Kibel, AS, Drake, BF, Cussenot, O, Cancel-Tassin, G, Menegaux, F, Hoffmann, TJ, Truong, T, Koudou, YA, John, EM, Grindedal, EM, Maehle, L, Khaw, K-T, Ingles, SA, Stern, MC, Vega, A, Gómez-Caamaño, A, Takahashi, A, Fachal, L, Rosenstein, BS, Kerns, SL, Ostrer, H, Teixeira, MR, Paulo, P, Brandão, A, Watya, S, Lubwama, A, Bensen, JT, Matsuda, K, Fontham, ETH, Mohler, J, Taylor, JA, Kogevinas, M, Llorca, J, Castaño-Vinyals, G, Cannon-Albright, L, Teerlink, CC, Huff, CD, Strom, SS, Momozawa, Y, Multigner, L, Blanchet, P, Brureau, L, Kaneva, R, Slavov, C, Mitev, V, Leach, RJ, Weaver, B, Brenner, H, Cuk, K, Fujita, M, Holleczek, B, Saum, K-U, Klein, EA, Hsing, AW, Kittles, RA, Murphy, AB, Logothetis, CJ, Kim, J, Neuhausen, SL, Steele, L, Muir, K, Ding, YC, Isaacs, WB, Nemesure, B, Hennis, AJM, Carpten, J, Pandha, H, Michael, A, De Ruyck, K, De Meerleer, G, Ost, P, Lophatananon, A, Xu, J, Razack, A, Lim, J, Teo, S-H, Newcomb, LF, Lin, DW, Fowke, JH, Neslund-Dudas, C, Rybicki, BA, Gamulin, M, Wan, P, Lessel, D, Kulis, T, Usmani, N, Singhal, S, Parliament, M, Claessens, F, Joniau, S, Van den Broeck, T, Gago-Dominguez, M, Castelao, JE, Le Marchand, L, Martinez, ME, Larkin, S, Townsend, PA, Aukim-Hastie, C, Bush, WS, Aldrich, MC, Crawford, DC, Srivastava, S, Cullen, JC, Petrovics, G, Wilkens, LR, Casey, G, Roobol, MJ, Jenster, G, van Schaik, RHN, Hu, JJ, Sanderson, M, Varma, R, McKean-Cowdin, R, Torres, M, Mancuso, N, Stevens, VL, Berndt, SI, Van Den Eeden, SK, Easton, DF, Chanock, SJ, Cook, MB, Wiklund, F, Nakagawa, H, Witte, JS, Eeles, RA, Kote-Jarai, Z, Gapstur, SM, Haiman, CA, Carter, BD, Schleutker, J, Tammela, TLJ, Sipeky, C, Auvinen, A, Giles, GG, Southey, MC, MacInnis, RJ, Cybulski, C, Wokołorczyk, D, Lubiński, J, Neal, DE, Donovan, JL, Hamdy, FC, Martin, RM, Nordestgaard, BG, Nielsen, SF, Weischer, M, Bojesen, SE, Røder, MA, Iversen, P, Batra, J, Chambers, S, Moya, L, Horvath, L, Clements, JA, Tilley, W, Risbridger, GP, Gronberg, H, Aly, M, Szulkin, R, Eklund, M, Nordström, T, Pashayan, N, Dunning, AM, Ghoussaini, M, Travis, RC, Key, TJ, Riboli, E, Park, JY, Sellers, TA, Lin, H-Y, Albanes, D, Weinstein, SJ, 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, Geybels, MS, Koutros, S, Freeman, LEB, 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, Conti, DV, Darst, BF, Moss, LC, Saunders, EJ, Sheng, X, Chou, A, Schumacher, FR, Olama, AAA, Benlloch, S, Dadaev, T, Brook, MN, Zhang, H-W, Feng, N, Mao, X, Wu, Y, Zhao, S-C, Sun, Z, Thibodeau, SN, McDonnell, SK, Schaid, DJ, West, CML, Sahimi, A, Burnet, N, Barnett, G, Maier, C, Schnoeller, T, Luedeke, M, Kibel, AS, Drake, BF, Cussenot, O, Cancel-Tassin, G, Menegaux, F, Hoffmann, TJ, Truong, T, Koudou, YA, John, EM, Grindedal, EM, Maehle, L, Khaw, K-T, Ingles, SA, Stern, MC, Vega, A, Gómez-Caamaño, A, Takahashi, A, Fachal, L, Rosenstein, BS, Kerns, SL, Ostrer, H, Teixeira, MR, Paulo, P, Brandão, A, Watya, S, Lubwama, A, Bensen, JT, Matsuda, K, Fontham, ETH, Mohler, J, Taylor, JA, Kogevinas, M, Llorca, J, Castaño-Vinyals, G, Cannon-Albright, L, Teerlink, CC, Huff, CD, Strom, SS, Momozawa, Y, Multigner, L, Blanchet, P, Brureau, L, Kaneva, R, Slavov, C, Mitev, V, Leach, RJ, Weaver, B, Brenner, H, Cuk, K, Fujita, M, Holleczek, B, Saum, K-U, Klein, EA, Hsing, AW, Kittles, RA, Murphy, AB, Logothetis, CJ, Kim, J, Neuhausen, SL, Steele, L, Muir, K, Ding, YC, Isaacs, WB, Nemesure, B, Hennis, AJM, Carpten, J, Pandha, H, Michael, A, De Ruyck, K, De Meerleer, G, Ost, P, Lophatananon, A, Xu, J, Razack, A, Lim, J, Teo, S-H, Newcomb, LF, Lin, DW, Fowke, JH, Neslund-Dudas, C, Rybicki, BA, Gamulin, M, Wan, P, Lessel, D, Kulis, T, Usmani, N, Singhal, S, Parliament, M, Claessens, F, Joniau, S, Van den Broeck, T, Gago-Dominguez, M, Castelao, JE, Le Marchand, L, Martinez, ME, Larkin, S, Townsend, PA, Aukim-Hastie, C, Bush, WS, Aldrich, MC, Crawford, DC, Srivastava, S, Cullen, JC, Petrovics, G, Wilkens, LR, Casey, G, Roobol, MJ, Jenster, G, van Schaik, RHN, Hu, JJ, Sanderson, M, Varma, R, McKean-Cowdin, R, Torres, M, Mancuso, N, Stevens, VL, Berndt, SI, Van Den Eeden, SK, Easton, DF, Chanock, SJ, Cook, MB, Wiklund, F, Nakagawa, H, Witte, JS, Eeles, RA, Kote-Jarai, Z, Gapstur, SM, Haiman, CA, Carter, BD, Schleutker, J, Tammela, TLJ, Sipeky, C, Auvinen, A, Giles, GG, Southey, MC, MacInnis, RJ, Cybulski, C, Wokołorczyk, D, Lubiński, J, Neal, DE, Donovan, JL, Hamdy, FC, Martin, RM, Nordestgaard, BG, Nielsen, SF, Weischer, M, Bojesen, SE, Røder, MA, Iversen, P, Batra, J, Chambers, S, Moya, L, Horvath, L, Clements, JA, Tilley, W, Risbridger, GP, Gronberg, H, Aly, M, Szulkin, R, Eklund, M, Nordström, T, Pashayan, N, Dunning, AM, Ghoussaini, M, Travis, RC, Key, TJ, Riboli, E, Park, JY, Sellers, TA, Lin, H-Y, Albanes, D, Weinstein, SJ, 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, Geybels, MS, Koutros, S, Freeman, LEB, Stampfer, M, Wolk, A, Håkansson, N, Andriole, GL, Hoover, RN, Machiela, MJ, Sørensen, KD, Borre, M, Blot, WJ, Zheng, W, Yeboah, ED, Mensah, JE, and Lu, Y-J
Abstract: Prostate cancer is a highly heritable disease with large disparities in incidence rates across ancestry populations. We conducted a multiancestry meta-analysis of prostate cancer genome-wide association studies (107,247 cases and 127,006 controls) and identified 86 new genetic risk variants independently associated with prostate cancer risk, bringing the total to 269 known risk variants. The top genetic risk score (GRS) decile was associated with odds ratios that ranged from 5.06 (95% confidence interval (CI), 4.84-5.29) for men of European ancestry to 3.74 (95% CI, 3.36-4.17) for men of African ancestry. Men of African ancestry were estimated to have a mean GRS that was 2.18-times higher (95% CI, 2.14-2.22), and men of East Asian ancestry 0.73-times lower (95% CI, 0.71-0.76), than men of European ancestry. These findings support the role of germline variation contributing to population differences in prostate cancer risk, with the GRS offering an approach for personalized risk prediction.
Published: 2021

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

Author: Huynh-Le, MP, Fan, CC, Karunamuni, R, Thompson, WK, Martinez, M E, Eeles, RA, Kote-Jarai, Z, Muir, K, Schleutker, J, Pashayan, N, Batra, J, Grönberg, H, Neal, DE, Donovan, JL, Hamdy, FC, Martin, RM, Nielsen, SF, Nordestgaard, BG, Wiklund, F, Tangen, C M, Giles, GG, Wolk, A, Albanes, D, Travis, RC, Blot, WJ, Zheng, W, Sanderson, M, Stanford, J L, Mucci, LA, West, CML, Kibel, AS, Cussenot, O, Berndt, SI, Koutros, S, Sørensen, KD, Cybulski, C, Grindedal, EM, Menegaux, F, Khaw, KTH, Park, JY, Ingles, SA, Maier, C, Hamilton, RJ, Thibodeau, SN, Rosenstein, B S, Lu, YJ, Watya, S, Vega, A, Kogevinas, M, Penney, KL, Huff, C, Teixeira, MR, Multigner, L, Leach, RJ, Cannon-Albright, L, Brenner, H, John, EM, Kaneva, R, Logothetis, CJ, Neuhausen, SL, De Ruyck, K, Pandha, H, Razack, A, Newcomb, LF, Fowke, JH, Gamulin, M, Usmani, N, Claessens, F, Gago-Dominguez, M, Townsend, PA, Bush, WS, Roobol - Bouts, Monique, Parent, MÉ, Hu, JJ, Mills, IG, Andreassen, OA, Dale, AM, Seibert, TM, Huynh-Le, MP, Fan, CC, Karunamuni, R, Thompson, WK, Martinez, M E, Eeles, RA, Kote-Jarai, Z, Muir, K, Schleutker, J, Pashayan, N, Batra, J, Grönberg, H, Neal, DE, Donovan, JL, Hamdy, FC, Martin, RM, Nielsen, SF, Nordestgaard, BG, Wiklund, F, Tangen, C M, Giles, GG, Wolk, A, Albanes, D, Travis, RC, Blot, WJ, Zheng, W, Sanderson, M, Stanford, J L, Mucci, LA, West, CML, Kibel, AS, Cussenot, O, Berndt, SI, Koutros, S, Sørensen, KD, Cybulski, C, Grindedal, EM, Menegaux, F, Khaw, KTH, Park, JY, Ingles, SA, Maier, C, Hamilton, RJ, Thibodeau, SN, Rosenstein, B S, Lu, YJ, Watya, S, Vega, A, Kogevinas, M, Penney, KL, Huff, C, Teixeira, MR, Multigner, L, Leach, RJ, Cannon-Albright, L, Brenner, H, John, EM, Kaneva, R, Logothetis, CJ, Neuhausen, SL, De Ruyck, K, Pandha, H, Razack, A, Newcomb, LF, Fowke, JH, Gamulin, M, Usmani, N, Claessens, F, Gago-Dominguez, M, Townsend, PA, Bush, WS, Roobol - Bouts, Monique, Parent, MÉ, Hu, JJ, Mills, IG, Andreassen, OA, Dale, AM, and Seibert, TM
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.
Published: 2021

12. The CHEK2 Variant C.349A>G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor

Author: Brandao, A, Paulo, P, Maia, S, Pinheiro, M, Peixoto, A, Cardoso, M, Silva, MP, Santos, C, Eeles, RA, Kote-Jarai, Z, Muir, K, Schleutker, J, Wang, Y, Pashayan, N, Batra, J, Gronberg, H, Neal, DE, Nordestgaard, BG, Tangen, CM, Southey, MC, Wolk, A, Albanes, D, Haiman, CA, Travis, RC, Stanford, JL, Mucci, LA, West, CML, Nielsen, SF, Kibel, AS, Cussenot, O, Berndt, SI, Koutros, S, Sorensen, KD, Cybulski, C, Grindedal, EM, Park, JY, Ingles, SA, Maier, C, Hamilton, RJ, Rosenstein, BS, Vega, A, Kogevinas, M, Wiklund, F, Penney, KL, Brenner, H, John, EM, Kaneva, R, Logothetis, CJ, Neuhausen, SL, De Ruyck, K, Razack, A, Newcomb, LF, Lessel, D, Usmani, N, Claessens, F, Gago-Dominguez, M, Townsend, PA, Roobol, MJ, Teixeira, MR, Brandao, A, Paulo, P, Maia, S, Pinheiro, M, Peixoto, A, Cardoso, M, Silva, MP, Santos, C, Eeles, RA, Kote-Jarai, Z, Muir, K, Schleutker, J, Wang, Y, Pashayan, N, Batra, J, Gronberg, H, Neal, DE, Nordestgaard, BG, Tangen, CM, Southey, MC, Wolk, A, Albanes, D, Haiman, CA, Travis, RC, Stanford, JL, Mucci, LA, West, CML, Nielsen, SF, Kibel, AS, Cussenot, O, Berndt, SI, Koutros, S, Sorensen, KD, Cybulski, C, Grindedal, EM, Park, JY, Ingles, SA, Maier, C, Hamilton, RJ, Rosenstein, BS, Vega, A, Kogevinas, M, Wiklund, F, Penney, KL, Brenner, H, John, EM, Kaneva, R, Logothetis, CJ, Neuhausen, SL, De Ruyck, K, Razack, A, Newcomb, LF, Lessel, D, Usmani, N, Claessens, F, Gago-Dominguez, M, Townsend, PA, Roobol, MJ, and Teixeira, MR
Abstract: The identification of recurrent founder variants in cancer predisposing genes may have important implications for implementing cost-effective targeted genetic screening strategies. In this study, we evaluated the prevalence and relative risk of the CHEK2 recurrent variant c.349A>G in a series of 462 Portuguese patients with early-onset and/or familial/hereditary prostate cancer (PrCa), as well as in the large multicentre PRACTICAL case-control study comprising 55,162 prostate cancer cases and 36,147 controls. Additionally, we investigated the potential shared ancestry of the carriers by performing identity-by-descent, haplotype and age estimation analyses using high-density SNP data from 70 variant carriers belonging to 11 different populations included in the PRACTICAL consortium. The CHEK2 missense variant c.349A>G was found significantly associated with an increased risk for PrCa (OR 1.9; 95% CI: 1.1-3.2). A shared haplotype flanking the variant in all carriers was identified, strongly suggesting a common founder of European origin. Additionally, using two independent statistical algorithms, implemented by DMLE+2.3 and ESTIAGE, we were able to estimate the age of the variant between 2300 and 3125 years. By extending the haplotype analysis to 14 additional carrier families, a shared core haplotype was revealed among all carriers matching the conserved region previously identified in the high-density SNP analysis. These findings are consistent with CHEK2 c.349A>G being a founder variant associated with increased PrCa risk, suggesting its potential usefulness for cost-effective targeted genetic screening in PrCa families.
Published: 2020

13. Erratum to: Germline variation at 8q24 and prostate cancer risk in men of European ancestry (Nature Communications, (2018), 9, 1, (4616), 10.1038/s41467-018-06863-1)

Author: Matejcic, M, Saunders, EJ, Dadaev, T, Brook, MN, Wang, K, Sheng, X, Olama, AAA, Schumacher, FR, Ingles, SA, Govindasami, K, Benlloch, S, Berndt, SI, Albanes, D, Koutros, S, Muir, K, Stevens, VL, Gapstur, SM, Tangen, CM, Batra, J, Clements, J, Gronberg, H, Pashayan, N, Schleutker, J, Wolk, A, West, C, Mucci, L, Kraft, P, Cancel-Tassin, G, Sorensen, KD, Maehle, L, Grindedal, EM, Strom, SS, Neal, DE, Hamdy, FC, Donovan, JL, Travis, RC, Hamilton, RJ, Rosenstein, B, Lu, YJ, Giles, GG, Kibel, AS, Vega, A, Bensen, JT, Kogevinas, M, Penney, KL, Park, JY, Stanford, JL, Cybulski, C, Nordestgaard, BG, Brenner, H, Maier, C, Kim, J, Teixeira, MR, Neuhausen, SL, De Ruyck, K, Razack, A, Newcomb, LF, Lessel, D, Kaneva, R, Usmani, N, Claessens, F, Townsend, PA, Gago-Dominguez, M, Roobol, MJ, Menegaux, F, Khaw, KT, Cannon-Albright, LA, Pandha, H, Thibodeau, SN, Schaid, DJ, Henderson, BE, Stern, MC, Thwaites, A, Guy, M, Whitmore, I, Morgan, A, Fisher, C, Hazel, S, Livni, N, Cook, M, Fachal, L, Weinstein, S, Beane Freeman, LE, Hoover, RN, Machiela, MJ, Lophatananon, A, Carter, BD, Goodman, P, Moya, L, Srinivasan, S, Kedda, MA, Yeadon, T, Eckert, A, Eklund, M, Cavalli-Bjoerkman, C, Dunning, AM, Sipeky, C, Hakansson, N, Elliott, R, and Ranu, H
Abstract: © 2019, The Author(s). The original version of this Article contained an error in the spelling of the author Manuela Gago-Dominguez, which was incorrectly given as Manuela G. Dominguez. This has now been corrected in both the PDF and HTML versions of the Article.
Published: 2019

14. Correction to: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci (Nature Genetics, (2018), 50, 7, (928-936), 10.1038/s41588-018-0142-8)

Author: Schumacher, FR, Olama, AAA, Berndt, SI, Benlloch, S, Ahmed, M, Saunders, EJ, Dadaev, T, Leongamornlert, D, Anokian, E, Cieza-Borrella, C, Goh, C, Brook, MN, Sheng, X, Fachal, L, Dennis, J, Tyrer, J, Muir, K, Lophatananon, A, Stevens, VL, Gapstur, SM, Carter, BD, Tangen, CM, Goodman, PJ, Thompson, IM, Batra, J, Chambers, S, Moya, L, Clements, J, Horvath, L, Tilley, W, Risbridger, GP, Gronberg, H, Aly, M, Nordström, T, Pharoah, P, Pashayan, N, Schleutker, J, Tammela, TLJ, Sipeky, C, Auvinen, A, Albanes, D, Weinstein, S, Wolk, A, Håkansson, N, West, CML, Dunning, AM, Burnet, N, Mucci, LA, Giovannucci, E, Andriole, GL, Cussenot, O, Cancel-Tassin, G, Koutros, S, Beane Freeman, LE, Sorensen, KD, Orntoft, TF, Borre, M, Maehle, L, Grindedal, EM, Neal, DE, Donovan, JL, Hamdy, FC, Martin, RM, Travis, RC, Key, TJ, Hamilton, RJ, Fleshner, NE, Finelli, A, Ingles, SA, Stern, MC, Rosenstein, BS, Kerns, SL, Ostrer, H, Lu, YJ, Zhang, HW, Feng, N, Mao, X, Guo, X, Wang, G, Sun, Z, Giles, GG, Southey, MC, MacInnis, RJ, FitzGerald, LM, Kibel, AS, Drake, BF, Vega, A, Gómez-Caamaño, A, Szulkin, R, Eklund, M, Kogevinas, M, Llorca, J, Castaño-Vinyals, G, Penney, KL, Stampfer, M, Park, JY, Sellers, TA, Lin, HY, Stanford, JL, and Cybulski, C
Subjects: Developmental Biology
Abstract: © 2018, The Author(s), under exclusive licence to Springer Nature America, Inc. In the version of this article initially published, the name of author Manuela Gago-Dominguez was misspelled as Manuela Gago Dominguez. The error has been corrected in the HTML and PDF version of the article.
Published: 2019

15. Germline variation at 8q24 and prostate cancer risk in men of European ancestry (vol 9, 4616, 2018)

Author: Matejcic, M, Saunders, EJ, Dadaev, T, Brook, MN, Wang, K, Sheng, X, Al Olama, AA, Schumacher, FR, Ingles, SA, Govindasami, K, Benlloch, S, Berndt, SI, Albanes, D, Koutros, S, Muir, K, Stevens, VL, Gapstur, SM, Tangen, CM, Batra, J, Clements, J, Gronberg, H, Pashayan, N, Schleutker, J, Wolk, A, West, C, Mucci, L, Kraft, P, Cancel-Tassin, G, Sorensen, KD, Maehle, L, Grindedal, EM, Strom, SS, Neal, DE, Hamdy, FC, Donovan, JL, Travis, RC, Hamilton, RJ, Rosenstein, B, Lu, Y-J, Giles, GG, Kibel, AS, Vega, A, Bensen, JT, Kogevinas, M, Penney, KL, Park, JY, Stanford, JL, Cybulski, C, Nordestgaard, BG, Brenner, H, Maier, C, Kim, J, Teixeira, MR, Neuhausen, SL, De Ruyck, K, Razack, A, Newcomb, LF, Lessel, D, Kaneva, R, Usmani, N, Claessens, F, Townsend, PA, Gago-Dominguez, M, Roobol, MJ, Menegaux, F, Khaw, K-T, Cannon-Albright, LA, Pandha, H, Thibodeau, SN, Schaid, DJ, Wiklund, F, Chanock, SJ, Easton, DF, Eeles, RA, Kote-Jarai, Z, Conti, DV, Haiman, CA, Henderson, BE, Stern, MC, Thwaites, A, Guy, M, Whitmore, I, Morgan, A, Fisher, C, Hazel, S, Livni, N, Cook, M, Fachal, L, Weinstein, S, Freeman, LEB, Hoover, RN, Machiela, MJ, Lophatananon, A, Carter, BD, Goodman, P, Moya, L, Srinivasan, S, Kedda, M-A, Yeadon, T, Eckert, A, Eklund, M, Cavalli-Bjoerkman, C, Dunning, AM, Sipeky, C, Hakansson, N, Elliott, R, Ranu, H, Giovannucci, E, Turman, C, Hunter, DJ, Cussenot, O, Orntoft, TF, Lane, A, Lewis, SJ, Davis, M, Key, TJ, Brown, P, Kulkarni, GS, Zlotta, AR, Fleshner, NE, Finelli, A, Mao, X, Marzec, J, MacInnis, RJ, Milne, R, Hopper, JL, Aguado, M, Bustamante, M, Castano-Vinyals, G, Gracia-Lavedan, E, Cecchini, L, Stampfer, M, Ma, J, Sellers, TA, Geybels, MS, Park, H, Zachariah, B, Kolb, S, Wokolorczyk, D, Lubinski, J, Kluzniak, W, Nielsen, SF, Weisher, M, Cuk, K, Vogel, W, Luedeke, M, Logothetis, CJ, Paulo, P, Cardoso, M, Maia, S, Silva, MP, Steele, L, Ding, YC, De Meerleer, G, De Langhe, S, Thierens, H, Lim, J, Tan, MH, Ong, AT, Lin, DW, Kachakova, D, Mitkova, A, Mitev, V, Parliament, M, Jenster, G, Bangma, C, Schroder, FH, Truong, T, Koudou, YA, Michael, A, Kierzek, A, Karlsson, A, Broms, M, Wu, H, Aukim-Hastie, C, Tillmans, L, Riska, S, McDonnell, SK, Dearnaley, D, Spurdle, A, Gardiner, R, Hayes, V, Butler, L, Taylor, R, Papargiris, M, Saunders, P, Kujala, P, Talala, K, Taari, K, Bentzen, S, Hicks, B, Vogt, A, Hutchinson, A, Cox, A, George, A, Toi, A, Evans, A, Van der Kwast, TH, Imai, T, Saito, S, Zhao, S-C, Ren, G, Zhang, Y, Yu, Y, Wu, Y, Wu, J, Zhou, B, Pedersen, J, Lobato-Busto, R, Manuel Ruiz-Dominguez, J, Mengual, L, Alcaraz, A, Pow-Sang, J, Herkommer, K, Vlahova, A, Dikov, T, Christova, S, Carracedo, A, Tretarre, B, Rebillard, X, Mulot, C, Adolfsson, J, Stattin, P, Johansson, J-E, Martin, RM, Thompson, IM, Chambers, S, Aitken, J, Horvath, L, Haynes, A-M, Tilley, W, Risbridger, G, Aly, M, Nordstrom, T, Pharoah, P, Tammela, TLJ, Murtola, T, Auvinen, A, Burnet, N, Barnett, G, Andriole, G, Klim, A, Drake, BF, Borre, M, Kerns, S, Ostrer, H, Zhang, H-W, Cao, G, Lin, J, Ling, J, Li, M, Feng, N, Li, J, He, W, Guo, X, Sun, Z, Wang, G, Guo, J, Southey, MC, FitzGerald, LM, Marsden, G, Gomez-Caamano, A, Carballo, A, Peleteiro, P, Calvo, P, Szulkin, R, Llorca, J, Dierssen-Sotos, T, Gomez-Acebo, I, Lin, H-Y, Ostrander, EA, Bisbjerg, R, Klarskov, P, Roder, MA, Iversen, P, Holleczek, B, Stegmaier, C, Schnoeller, T, Bohnert, P, John, EM, Ost, P, Teo, S-H, Gamulin, M, Kulis, T, Kastelan, Z, Slavov, C, Popov, E, Van den Broeck, T, Joniau, S, Larkin, S, Esteban Castelao, J, Martinez, ME, Van Schaik, RHN, Xu, J, Lindstrom, S, Riboli, E, Berry, C, Siddiq, A, Canzian, F, Kolonel, LN, Le Marchand, L, Freedman, M, Cenee, S, Sanchez, M, and Commission of the European Communities
Subjects: Multidisciplinary Sciences, Science & Technology, MD Multidisciplinary, Science & Technology - Other Topics, PRACTICAL Consortium
Abstract: Correction to: Nature Communications; https://doi.org/10.1038/s41467-018-06863-1, published online 5 November 2018.
Published: 2019

16. Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia

Author: Vijayakrishnan, J, Studd, J, Broderick, P, Kinnersley, B, Holroyd, A, Law, PJ, Kumar, R, Allan, JM, Harrison, CJ, Moorman, AV, Vora, A, Roman, E, Rachakonda, S, Kinsey, SE, Sheridan, E, Thompson, PD, Irving, JA, Koehler, R, Hoffmann, P, Nöthen, MM, Heilmann-Heimbach, S, Jöckel, KH, Easton, DF, Pharaoh, PDP, Dunning, AM, Peto, J, Canzian, F, Swerdlow, A, Eeles, RA, Kote-Jarai, Z, Muir, K, Pashayan, N, Greaves, M, Zimmerman, M, Bartram, CR, Schrappe, M, Stanulla, M, Hemminki, K, Houlston, RS, Henderson, BE, Haiman, CA, Benlloch, S, Schumacher, FR, Olama, AAA, Berndt, SI, Conti, DV, Wiklund, F, Chanock, S, Stevens, VL, Tangen, CM, Batra, J, Clements, J, Gronberg, H, Schleutker, J, Albanes, D, Weinstein, S, Wolk, A, West, C, Mucci, L, Cancel-Tassin, G, Koutros, S, Sorensen, KD, Maehle, L, Neal, DE, Travis, RC, Hamilton, RJ, Ingles, SA, Rosenstein, B, Lu, YJ, Giles, GG, Kibel, AS, Vega, A, Kogevinas, M, Penney, KL, Park, JY, Stanford, JL, The PRACTICAL Consortium, and Claessens, Frank
Subjects: Male, Oncogene Proteins, Fusion, Glycosyltransferases, Prognosis, Polymorphism, Single Nucleotide, HLA Antigens, Risk Factors, Child, Preschool, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Core Binding Factor Alpha 2 Subunit, Humans, Female, Genetic Predisposition to Disease, Child, Genome-Wide Association Study
Abstract: © 2018 The Author(s). Genome-wide association studies (GWAS) have advanced our understanding of susceptibility to B-cell precursor acute lymphoblastic leukemia (BCP-ALL); however, much of the heritable risk remains unidentified. Here, we perform a GWAS and conduct a meta-analysis with two existing GWAS, totaling 2442 cases and 14,609 controls. We identify risk loci for BCP-ALL at 8q24.21 (rs28665337, P = 3.86 × 10-9, odds ratio (OR) = 1.34) and for ETV6-RUNX1 fusion-positive BCP-ALL at 2q22.3 (rs17481869, P = 3.20 × 10-8, OR = 2.14). Our findings provide further insights into genetic susceptibility to ALL and its biology. ispartof: Nature Communications vol:9 issue:1 ispartof: location:England status: published
Published: 2018

17. Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia (vol 9, 1340, 2018)

Author: Vijayakrishnan, J, Studd, J, Broderick, P, Kinnersley, B, Holroyd, A, Law, PJ, Kumar, R, Allan, JM, Harrison, CJ, Moorman, AV, Vora, A, Roman, E, Rachakonda, S, Kinsey, SE, Sheridan, E, Thompson, PD, Irving, JA, Koehler, R, Hoffmann, P, Noethen, MM, Heilmann-Heimbach, S, Joeckel, K-H, Easton, DF, Pharaoh, PDP, Dunning, AM, Peto, J, Canzian, F, Swerdlow, A, Eeles, RA, Kote-Jarai, Z, Muir, K, Pashayan, N, Henderson, BE, Haiman, CA, Benlloch, S, Schumacher, FR, Al Olama, AA, Berndt, SI, Conti, DV, Wiklund, F, Chanock, S, Stevens, VL, Tangen, CM, Batra, J, Clements, J, Gronberg, H, Schleutker, J, Albanes, D, Weinstein, S, Wolk, A, West, C, Mucci, L, Cancel-Tassin, G, Koutros, S, Sorensen, KD, Maehle, L, Neal, DE, Travis, RC, Hamilton, RJ, Ingles, SA, Rosenstein, B, Lu, Y-J, Giles, GG, Kibel, AS, Vega, A, Kogevinas, M, Penney, KL, Park, JY, Stanford, JL, Cybulski, C, Nordestgaard, BG, Brenner, H, Maier, C, Kim, J, John, EM, Teixeira, MR, Neuhausen, SL, De Ruyck, K, Razack, A, Newcomb, LF, Lessel, D, Kaneva, R, Usmani, N, Claessens, F, Townsend, PA, Gago-Dominguez, M, Roobol, MJ, Menegaux, F, Greaves, M, Zimmerman, M, Bartram, CR, Schrappe, M, Stanulla, M, Hemminki, K, Houlston, RS, Vijayakrishnan, J, Studd, J, Broderick, P, Kinnersley, B, Holroyd, A, Law, PJ, Kumar, R, Allan, JM, Harrison, CJ, Moorman, AV, Vora, A, Roman, E, Rachakonda, S, Kinsey, SE, Sheridan, E, Thompson, PD, Irving, JA, Koehler, R, Hoffmann, P, Noethen, MM, Heilmann-Heimbach, S, Joeckel, K-H, Easton, DF, Pharaoh, PDP, Dunning, AM, Peto, J, Canzian, F, Swerdlow, A, Eeles, RA, Kote-Jarai, Z, Muir, K, Pashayan, N, Henderson, BE, Haiman, CA, Benlloch, S, Schumacher, FR, Al Olama, AA, Berndt, SI, Conti, DV, Wiklund, F, Chanock, S, Stevens, VL, Tangen, CM, Batra, J, Clements, J, Gronberg, H, Schleutker, J, Albanes, D, Weinstein, S, Wolk, A, West, C, Mucci, L, Cancel-Tassin, G, Koutros, S, Sorensen, KD, Maehle, L, Neal, DE, Travis, RC, Hamilton, RJ, Ingles, SA, Rosenstein, B, Lu, Y-J, Giles, GG, Kibel, AS, Vega, A, Kogevinas, M, Penney, KL, Park, JY, Stanford, JL, Cybulski, C, Nordestgaard, BG, Brenner, H, Maier, C, Kim, J, John, EM, Teixeira, MR, Neuhausen, SL, De Ruyck, K, Razack, A, Newcomb, LF, Lessel, D, Kaneva, R, Usmani, N, Claessens, F, Townsend, PA, Gago-Dominguez, M, Roobol, MJ, Menegaux, F, Greaves, M, Zimmerman, M, Bartram, CR, Schrappe, M, Stanulla, M, Hemminki, K, and Houlston, RS
Abstract: The original version of this Article contained an error in the spelling of a member of the PRACTICAL Consortium, Manuela Gago-Dominguez, which was incorrectly given as Manuela Gago Dominguez. This has now been corrected in both the PDF and HTML versions of the Article. Furthermore, in the original HTML version of this Article, the order of authors within the author list was incorrect. The PRACTICAL consortium was incorrectly listed after Richard S. Houlston and should have been listed after Nora Pashayan. This error has been corrected in the HTML version of the Article; the PDF version was correct at the time of publication.
Published: 2019

18. Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma (vol 9, 3707, 2018)

Author: Went, M, Sud, A, Foersti, A, Halvarsson, B-M, Weinhold, N, Kimber, S, van Duin, M, Thorleifsson, G, Holroyd, A, Johnson, DC, Li, N, Orlando, G, Law, PJ, Ali, M, Chen, B, Mitchell, JS, Gudbjartsson, DF, Kuiper, R, Stephens, OW, Bertsch, U, Broderick, P, Campo, C, Bandapalli, OR, Einsele, H, Gregory, WA, Gullberg, U, Hillengass, J, Hoffmann, P, Jackson, GH, Joeckel, K-H, Johnsson, E, Kristinsson, SY, Mellqvist, U-H, Nahi, H, Easton, D, Pharoah, P, Dunning, A, Peto, J, Canzian, F, Swerdlow, A, Eeles, RA, Kote-Jarai, Z, Muir, K, Pashayan, N, Henderson, BE, Haiman, CA, Benlloch, S, Schumacher, FR, Al Olama, AA, Berndt, SI, Conti, DV, Wiklund, F, Chanock, S, Stevens, VL, Tangen, CM, Batra, J, Clements, J, Gronberg, H, Schleutker, J, Albanes, D, Weinstein, S, Wolk, A, West, C, Mucci, L, Cancel-Tassin, G, Koutros, S, Sorensen, KD, Grindedal, EM, Neal, DE, Hamdy, FC, Donovan, JL, Travis, RC, Hamilton, RJ, Ingles, SA, Rosenstein, B, Lu, Y-J, Giles, GG, Kibel, AS, Vega, A, Kogevinas, M, Penney, KL, Park, JY, Stanford, JL, Cybulski, C, Nordestgaard, BG, Brenner, H, Maier, C, Kim, J, John, EM, Teixeira, MR, Neuhausen, SL, De Ruyck, K, Razack, A, Newcomb, LF, Lessel, D, Kaneva, R, Usmani, N, Claessens, F, Townsend, PA, Gago-Dominguez, M, Roobol, MJ, Menegaux, F, Khaw, K-T, Cannon-Albright, L, Pandha, H, Thibodeau, SN, Nickel, J, Noethen, MM, Rafnar, T, Ross, FM, Filho, MIDS, Thomsen, H, Turesson, I, Vangsted, A, Andersen, NF, Waage, A, Walker, BA, Wihlborg, A-K, Broyl, A, Davies, FE, Thorsteinsdottir, U, Langer, C, Hansson, M, Goldschmidt, H, Kaiser, M, Sonneveld, P, Stefansson, K, Morgan, GJ, Hemminki, K, Nilsson, B, Houlston, RS, Went, M, Sud, A, Foersti, A, Halvarsson, B-M, Weinhold, N, Kimber, S, van Duin, M, Thorleifsson, G, Holroyd, A, Johnson, DC, Li, N, Orlando, G, Law, PJ, Ali, M, Chen, B, Mitchell, JS, Gudbjartsson, DF, Kuiper, R, Stephens, OW, Bertsch, U, Broderick, P, Campo, C, Bandapalli, OR, Einsele, H, Gregory, WA, Gullberg, U, Hillengass, J, Hoffmann, P, Jackson, GH, Joeckel, K-H, Johnsson, E, Kristinsson, SY, Mellqvist, U-H, Nahi, H, Easton, D, Pharoah, P, Dunning, A, Peto, J, Canzian, F, Swerdlow, A, Eeles, RA, Kote-Jarai, Z, Muir, K, Pashayan, N, Henderson, BE, Haiman, CA, Benlloch, S, Schumacher, FR, Al Olama, AA, Berndt, SI, Conti, DV, Wiklund, F, Chanock, S, Stevens, VL, Tangen, CM, Batra, J, Clements, J, Gronberg, H, Schleutker, J, Albanes, D, Weinstein, S, Wolk, A, West, C, Mucci, L, Cancel-Tassin, G, Koutros, S, Sorensen, KD, Grindedal, EM, Neal, DE, Hamdy, FC, Donovan, JL, Travis, RC, Hamilton, RJ, Ingles, SA, Rosenstein, B, Lu, Y-J, Giles, GG, Kibel, AS, Vega, A, Kogevinas, M, Penney, KL, Park, JY, Stanford, JL, Cybulski, C, Nordestgaard, BG, Brenner, H, Maier, C, Kim, J, John, EM, Teixeira, MR, Neuhausen, SL, De Ruyck, K, Razack, A, Newcomb, LF, Lessel, D, Kaneva, R, Usmani, N, Claessens, F, Townsend, PA, Gago-Dominguez, M, Roobol, MJ, Menegaux, F, Khaw, K-T, Cannon-Albright, L, Pandha, H, Thibodeau, SN, Nickel, J, Noethen, MM, Rafnar, T, Ross, FM, Filho, MIDS, Thomsen, H, Turesson, I, Vangsted, A, Andersen, NF, Waage, A, Walker, BA, Wihlborg, A-K, Broyl, A, Davies, FE, Thorsteinsdottir, U, Langer, C, Hansson, M, Goldschmidt, H, Kaiser, M, Sonneveld, P, Stefansson, K, Morgan, GJ, Hemminki, K, Nilsson, B, and Houlston, RS
Abstract: The original version of this Article contained an error in the spelling of a member of the PRACTICAL Consortium, Manuela Gago-Dominguez, which was incorrectly given as Manuela Gago Dominguez. This has now been corrected in both the PDF and HTML versions of the Article. Furthermore, in the original HTML version of this Article, the order of authors within the author list was incorrect. The PRACTICAL consortium was incorrectly listed after Richard S. Houlston and should have been listed after Nora Pashayan. This error has been corrected in the HTML version of the Article; the PDF version was correct at the time of publication.
Published: 2019

19. Large-scale transcriptome-wide association study identifies new prostate cancer risk regions (vol 9, 4079, 2018)

Author: Mancuso, N, Gayther, S, Gusev, A, Zheng, W, Penney, KL, Kote-Jarai, Z, Eeles, R, Freedman, M, Haiman, C, Pasaniuc, B, Henderson, BE, Benlloch, S, Schumacher, FR, Al Olama, AA, Muir, K, Berndt, SI, Conti, DV, Wiklund, F, Chanock, S, Stevens, VL, Tangen, CM, Batra, J, Clements, J, Gronberg, H, Pashayan, N, Schleutker, J, Albanes, D, Weinstein, S, Wolk, A, West, C, Mucci, L, Cancel-Tassin, G, Koutros, S, Sorensen, KD, Maehle, L, Neal, DE, Hamdy, FC, Donovan, JL, Travis, RC, Hamilton, RJ, Ingles, SA, Rosenstein, B, Lu, Y-J, Giles, GG, Kibel, AS, Vega, A, Kogevinas, M, Park, JY, Stanford, JL, Cybulski, C, Nordestgaard, BG, Brenner, H, Maier, C, Kim, J, John, EM, Teixeira, MR, Neuhausen, SL, De Ruyck, K, Razack, A, Newcomb, LF, Lessel, D, Kaneva, R, Usmani, N, Claessens, F, Townsend, PA, Gago-Dominguez, M, Roobol, MJ, Menegaux, F, Khaw, K-T, Cannon-Albright, L, Pandha, H, Thibodeau, SN, Hunter, DJ, Kraft, P, Mancuso, N, Gayther, S, Gusev, A, Zheng, W, Penney, KL, Kote-Jarai, Z, Eeles, R, Freedman, M, Haiman, C, Pasaniuc, B, Henderson, BE, Benlloch, S, Schumacher, FR, Al Olama, AA, Muir, K, Berndt, SI, Conti, DV, Wiklund, F, Chanock, S, Stevens, VL, Tangen, CM, Batra, J, Clements, J, Gronberg, H, Pashayan, N, Schleutker, J, Albanes, D, Weinstein, S, Wolk, A, West, C, Mucci, L, Cancel-Tassin, G, Koutros, S, Sorensen, KD, Maehle, L, Neal, DE, Hamdy, FC, Donovan, JL, Travis, RC, Hamilton, RJ, Ingles, SA, Rosenstein, B, Lu, Y-J, Giles, GG, Kibel, AS, Vega, A, Kogevinas, M, Park, JY, Stanford, JL, Cybulski, C, Nordestgaard, BG, Brenner, H, Maier, C, Kim, J, John, EM, Teixeira, MR, Neuhausen, SL, De Ruyck, K, Razack, A, Newcomb, LF, Lessel, D, Kaneva, R, Usmani, N, Claessens, F, Townsend, PA, Gago-Dominguez, M, Roobol, MJ, Menegaux, F, Khaw, K-T, Cannon-Albright, L, Pandha, H, Thibodeau, SN, Hunter, DJ, and Kraft, P
Abstract: The original version of this Article contained an error in the spelling of a member of the PRACTICAL Consortium, Manuela Gago-Dominguez, which was incorrectly given as Manuela Gago Dominguez. This has now been corrected in both the PDF and HTML versions of the Article. Furthermore, In the original HTML version of this Article, the order of authors within the author list was incorrect. The consortium PRACTICAL consortium was incorrectly listed after Bogdan Pasaniuc and should have been listed after Kathryn L. Penney. This error has been corrected in the HTML version of the Article; the PDF version was correct at the time of publication.
Published: 2019

20. Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility (vol 8, 1892, 2017)

Author: Sud, A, Thomsen, H, Law, PJ, Foersti, A, Filho, MIDS, Holroyd, A, Broderick, P, Orlando, G, Lenive, O, Wright, L, Cooke, R, Easton, D, Pharoah, P, Dunning, A, Peto, J, Canzian, F, Eeles, R, Kote-Jarai, Z, Muir, K, Pashayan, N, Hoffmann, P, Noethen, MM, Joeckel, K-H, von Strandmann, EP, Lightfoot, T, Kane, E, Roman, E, Lake, A, Montgomery, D, Jarrett, RF, Swerdlow, AJ, Engert, A, Orr, N, Hemminki, K, Houlston, RS, Henderson, BE, Haiman, CA, Benlloch, S, Schumacher, FR, Al Olama, AA, Berndt, SI, Conti, DV, Wiklund, F, Chanock, S, Stevens, VL, Tangen, CM, Batra, J, Clements, J, Gronberg, H, Schleutker, J, Albanes, D, Weinstein, S, Wolk, A, West, C, Mucci, L, Cancel-Tassin, G, Koutros, S, Sorensen, KD, Maehle, L, Neal, DE, Travis, RC, Hamilton, RJ, Ingles, SA, Rosenstein, B, Lu, Y-J, Giles, GG, Kibel, AS, Vega, A, Kogevinas, M, Penney, KL, Park, JY, Stanford, JL, Cybulski, C, Nordestgaard, BG, Brenner, H, Maier, C, Kim, J, John, EM, Teixeira, MR, Neuhausen, SL, De Ruyck, K, Razack, A, Newcomb, LF, Lessel, D, Kaneva, R, Usmani, N, Claessens, F, Townsend, PA, Gago-Dominguez, M, Roobol, MJ, Menegaux, F, Sud, A, Thomsen, H, Law, PJ, Foersti, A, Filho, MIDS, Holroyd, A, Broderick, P, Orlando, G, Lenive, O, Wright, L, Cooke, R, Easton, D, Pharoah, P, Dunning, A, Peto, J, Canzian, F, Eeles, R, Kote-Jarai, Z, Muir, K, Pashayan, N, Hoffmann, P, Noethen, MM, Joeckel, K-H, von Strandmann, EP, Lightfoot, T, Kane, E, Roman, E, Lake, A, Montgomery, D, Jarrett, RF, Swerdlow, AJ, Engert, A, Orr, N, Hemminki, K, Houlston, RS, Henderson, BE, Haiman, CA, Benlloch, S, Schumacher, FR, Al Olama, AA, Berndt, SI, Conti, DV, Wiklund, F, Chanock, S, Stevens, VL, Tangen, CM, Batra, J, Clements, J, Gronberg, H, Schleutker, J, Albanes, D, Weinstein, S, Wolk, A, West, C, Mucci, L, Cancel-Tassin, G, Koutros, S, Sorensen, KD, Maehle, L, Neal, DE, Travis, RC, Hamilton, RJ, Ingles, SA, Rosenstein, B, Lu, Y-J, Giles, GG, Kibel, AS, Vega, A, Kogevinas, M, Penney, KL, Park, JY, Stanford, JL, Cybulski, C, Nordestgaard, BG, Brenner, H, Maier, C, Kim, J, John, EM, Teixeira, MR, Neuhausen, SL, De Ruyck, K, Razack, A, Newcomb, LF, Lessel, D, Kaneva, R, Usmani, N, Claessens, F, Townsend, PA, Gago-Dominguez, M, Roobol, MJ, and Menegaux, F
Abstract: The original version of this Article contained an error in the spelling of a member of the PRACTICAL Consortium, Manuela Gago-Dominguez, which was incorrectly given as Manuela Gago Dominguez. This has now been corrected in both the PDF and HTML versions of the Article.
Published: 2019

21. Shared heritability and functional enrichment across six solid cancers

Author: Jiang, X, Finucane, HK, Schumacher, FR, Schmit, SL, Tyrer, JP, Han, Y, Michailidou, K, Lesseur, C, Kuchenbaecker, KB, Dennis, J, Conti, DV, Casey, G, Gaudet, MM, Huyghe, JR, Albanes, D, Aldrich, MC, Andrew, AS, Andrulis, IL, Anton-Culver, H, Antoniou, AC, Antonenkova, NN, Arnold, SM, Aronson, KJ, Arun, BK, Bandera, EV, Barkardottir, RB, Barnes, DR, Batra, J, Beckmann, MW, Benitez, J, Benlloch, S, Berchuck, A, Berndt, SI, Bickeboeller, H, Bien, SA, Blomqvist, C, Boccia, S, Bogdanova, NV, Bojesen, SE, Bolla, MK, Brauch, H, Brenner, H, Brenton, JD, Brook, MN, Brunet, J, Brunnstrom, H, Buchanan, DD, Burwinkel, B, Butzow, R, Cadoni, G, Caldes, T, Caligo, MA, Campbell, I, Campbell, PT, Cancel-Tassin, G, Cannon-Albright, L, Campa, D, Caporaso, N, Carvalho, AL, Chan, AT, Chang-Claude, J, Chanock, SJ, Chen, C, Christiani, DC, Claes, KBM, Claessens, F, Clements, J, Collee, JM, Correa, MC, Couch, FJ, Cox, A, Cunningham, JM, Cybulski, C, Czene, K, Daly, MB, defazio, A, Devilee, P, Diez, O, Gago-Dominguez, M, Donovan, JL, Doerk, T, Duell, EJ, Dunning, AM, Dwek, M, Eccles, DM, Edlund, CK, Edwards, DRV, Ellberg, C, Evans, DG, Fasching, PA, Ferris, RL, Liloglou, T, Figueiredo, JC, Fletcher, O, Fortner, RT, Fostira, F, Franceschi, S, Friedman, E, Gallinger, SJ, Ganz, PA, Garber, J, Garcia-Saenz, JA, Gayther, SA, Giles, GG, Godwin, AK, Goldberg, MS, Goldgar, DE, Goode, EL, Goodman, MT, Goodman, G, Grankvist, K, Greene, MH, Gronberg, H, Gronwald, J, Guenel, P, Hakansson, N, Hall, P, Hamann, U, Hamdy, FC, Hamilton, RJ, Hampe, J, Haugen, A, Heitz, F, Herrero, R, Hillemanns, P, Hoffmeister, M, Hogdall, E, Hong, Y-C, Hopper, JL, Houlston, R, Hulick, PJ, Hunter, DJ, Huntsman, DG, Idos, G, Imyanitov, EN, Ingles, SA, Isaacs, C, Jakubowska, A, James, P, Jenkins, MA, Johansson, M, John, EM, Joshi, AD, Kaneva, R, Karlan, BY, Kelemen, LE, Kuhl, T, Khaw, K-T, Khusnutdinova, E, Kibel, AS, Kiemeney, LA, Kim, J, Kjaer, SK, Knight, JA, Kogevinas, M, Kote-Jarai, Z, Koutros, S, Kristensen, VN, Kupryjanczyk, J, Lacko, M, Lam, S, Lambrechts, D, Landi, MT, Lazarus, P, Le, ND, Lee, E, Lejbkowicz, F, Lenz, H-J, Leslie, G, Lessel, D, Lester, J, Levine, DA, Li, L, Li, CI, Lindblom, A, Lindor, NM, Liu, G, Loupakis, F, Lubinski, J, Maehle, L, Maier, C, Mannermaa, A, Le Marchand, L, Margolin, S, May, T, McGuffog, L, Meindl, A, Middha, P, Miller, A, Milne, RL, MacInnis, RJ, Modugno, F, Montagna, M, Moreno, V, Moysich, KB, Mucci, L, Muir, K, Mulligan, AM, Nathanson, KL, Neal, DE, Ness, AR, Neuhausen, SL, Nevanlinna, H, Newcomb, PA, Newcomb, LF, Nielsen, FC, Nikitina-Zake, L, Nordestgaard, BG, Nussbaum, RL, Offit, K, Olah, E, Al Olama, AA, Olopade, OI, Olshan, AF, Olsson, H, Osorio, A, Pandha, H, Park, JY, Pashayan, N, Parsons, MT, Pejovic, T, Penney, KL, Peters, WHM, Phelan, CM, Phipps, AI, Plaseska-Karanfilska, D, Pring, M, Prokofyeva, D, Radice, P, Stefansson, K, Ramus, SJ, Raskin, L, Rennert, G, Rennert, HS, van Rensburg, EJ, Riggan, MJ, Risch, HA, Risch, A, Roobol, MJ, Rosenstein, BS, Rossing, MA, De Ruyck, K, Saloustros, E, Sandler, DP, Sawyer, EJ, Schabath, MB, Schleutker, J, Schmidt, MK, Setiawan, VW, Shen, H, Siegel, EM, Sieh, W, Singer, CF, Slattery, ML, Sorensen, KD, Southey, MC, Spurdle, AB, Stanford, JL, Stevens, VL, Stintzing, S, Stone, J, Sundfeldt, K, Sutphen, R, Swerdlow, AJ, Tajara, EH, Tangen, CM, Tardon, A, Taylor, JA, Teare, MD, Teixeira, MR, Terry, MB, Terry, KL, Thibodeau, SN, Thomassen, M, Bjorge, L, Tischkowitz, M, Toland, AE, Torres, D, Townsend, PA, Travis, RC, Tung, N, Tworoger, SS, Ulrich, CM, Usmani, N, Vachon, CM, Van Nieuwenhuysen, E, Vega, A, Aguado-Barrera, ME, Wang, Q, Webb, PM, Weinberg, CR, Weinstein, S, Weissler, MC, Weitzel, JN, West, CML, White, E, Whittemore, AS, Wichmann, H-E, Wiklund, F, Winqvist, R, Wolk, A, Woll, P, Woods, M, Wu, AH, Wu, X, Yannoukakos, D, Zheng, W, Zienolddiny, S, Ziogas, A, Zorn, KK, Lane, JM, Saxena, R, Thomas, D, Hung, RJ, Diergaarde, B, Mckay, J, Peters, U, Hsu, L, Garcia-Closas, M, Eeles, RA, Chenevix-Trench, G, Brennan, PJ, Haiman, CA, Simard, J, Easton, DF, Gruber, SB, Pharoah, PDP, Price, AL, Pasaniuc, B, Amos, CI, Kraft, P, Lindstrom, S, Jiang, X, Finucane, HK, Schumacher, FR, Schmit, SL, Tyrer, JP, Han, Y, Michailidou, K, Lesseur, C, Kuchenbaecker, KB, Dennis, J, Conti, DV, Casey, G, Gaudet, MM, Huyghe, JR, Albanes, D, Aldrich, MC, Andrew, AS, Andrulis, IL, Anton-Culver, H, Antoniou, AC, Antonenkova, NN, Arnold, SM, Aronson, KJ, Arun, BK, Bandera, EV, Barkardottir, RB, Barnes, DR, Batra, J, Beckmann, MW, Benitez, J, Benlloch, S, Berchuck, A, Berndt, SI, Bickeboeller, H, Bien, SA, Blomqvist, C, Boccia, S, Bogdanova, NV, Bojesen, SE, Bolla, MK, Brauch, H, Brenner, H, Brenton, JD, Brook, MN, Brunet, J, Brunnstrom, H, Buchanan, DD, Burwinkel, B, Butzow, R, Cadoni, G, Caldes, T, Caligo, MA, Campbell, I, Campbell, PT, Cancel-Tassin, G, Cannon-Albright, L, Campa, D, Caporaso, N, Carvalho, AL, Chan, AT, Chang-Claude, J, Chanock, SJ, Chen, C, Christiani, DC, Claes, KBM, Claessens, F, Clements, J, Collee, JM, Correa, MC, Couch, FJ, Cox, A, Cunningham, JM, Cybulski, C, Czene, K, Daly, MB, defazio, A, Devilee, P, Diez, O, Gago-Dominguez, M, Donovan, JL, Doerk, T, Duell, EJ, Dunning, AM, Dwek, M, Eccles, DM, Edlund, CK, Edwards, DRV, Ellberg, C, Evans, DG, Fasching, PA, Ferris, RL, Liloglou, T, Figueiredo, JC, Fletcher, O, Fortner, RT, Fostira, F, Franceschi, S, Friedman, E, Gallinger, SJ, Ganz, PA, Garber, J, Garcia-Saenz, JA, Gayther, SA, Giles, GG, Godwin, AK, Goldberg, MS, Goldgar, DE, Goode, EL, Goodman, MT, Goodman, G, Grankvist, K, Greene, MH, Gronberg, H, Gronwald, J, Guenel, P, Hakansson, N, Hall, P, Hamann, U, Hamdy, FC, Hamilton, RJ, Hampe, J, Haugen, A, Heitz, F, Herrero, R, Hillemanns, P, Hoffmeister, M, Hogdall, E, Hong, Y-C, Hopper, JL, Houlston, R, Hulick, PJ, Hunter, DJ, Huntsman, DG, Idos, G, Imyanitov, EN, Ingles, SA, Isaacs, C, Jakubowska, A, James, P, Jenkins, MA, Johansson, M, John, EM, Joshi, AD, Kaneva, R, Karlan, BY, Kelemen, LE, Kuhl, T, Khaw, K-T, Khusnutdinova, E, Kibel, AS, Kiemeney, LA, Kim, J, Kjaer, SK, Knight, JA, Kogevinas, M, Kote-Jarai, Z, Koutros, S, Kristensen, VN, Kupryjanczyk, J, Lacko, M, Lam, S, Lambrechts, D, Landi, MT, Lazarus, P, Le, ND, Lee, E, Lejbkowicz, F, Lenz, H-J, Leslie, G, Lessel, D, Lester, J, Levine, DA, Li, L, Li, CI, Lindblom, A, Lindor, NM, Liu, G, Loupakis, F, Lubinski, J, Maehle, L, Maier, C, Mannermaa, A, Le Marchand, L, Margolin, S, May, T, McGuffog, L, Meindl, A, Middha, P, Miller, A, Milne, RL, MacInnis, RJ, Modugno, F, Montagna, M, Moreno, V, Moysich, KB, Mucci, L, Muir, K, Mulligan, AM, Nathanson, KL, Neal, DE, Ness, AR, Neuhausen, SL, Nevanlinna, H, Newcomb, PA, Newcomb, LF, Nielsen, FC, Nikitina-Zake, L, Nordestgaard, BG, Nussbaum, RL, Offit, K, Olah, E, Al Olama, AA, Olopade, OI, Olshan, AF, Olsson, H, Osorio, A, Pandha, H, Park, JY, Pashayan, N, Parsons, MT, Pejovic, T, Penney, KL, Peters, WHM, Phelan, CM, Phipps, AI, Plaseska-Karanfilska, D, Pring, M, Prokofyeva, D, Radice, P, Stefansson, K, Ramus, SJ, Raskin, L, Rennert, G, Rennert, HS, van Rensburg, EJ, Riggan, MJ, Risch, HA, Risch, A, Roobol, MJ, Rosenstein, BS, Rossing, MA, De Ruyck, K, Saloustros, E, Sandler, DP, Sawyer, EJ, Schabath, MB, Schleutker, J, Schmidt, MK, Setiawan, VW, Shen, H, Siegel, EM, Sieh, W, Singer, CF, Slattery, ML, Sorensen, KD, Southey, MC, Spurdle, AB, Stanford, JL, Stevens, VL, Stintzing, S, Stone, J, Sundfeldt, K, Sutphen, R, Swerdlow, AJ, Tajara, EH, Tangen, CM, Tardon, A, Taylor, JA, Teare, MD, Teixeira, MR, Terry, MB, Terry, KL, Thibodeau, SN, Thomassen, M, Bjorge, L, Tischkowitz, M, Toland, AE, Torres, D, Townsend, PA, Travis, RC, Tung, N, Tworoger, SS, Ulrich, CM, Usmani, N, Vachon, CM, Van Nieuwenhuysen, E, Vega, A, Aguado-Barrera, ME, Wang, Q, Webb, PM, Weinberg, CR, Weinstein, S, Weissler, MC, Weitzel, JN, West, CML, White, E, Whittemore, AS, Wichmann, H-E, Wiklund, F, Winqvist, R, Wolk, A, Woll, P, Woods, M, Wu, AH, Wu, X, Yannoukakos, D, Zheng, W, Zienolddiny, S, Ziogas, A, Zorn, KK, Lane, JM, Saxena, R, Thomas, D, Hung, RJ, Diergaarde, B, Mckay, J, Peters, U, Hsu, L, Garcia-Closas, M, Eeles, RA, Chenevix-Trench, G, Brennan, PJ, Haiman, CA, Simard, J, Easton, DF, Gruber, SB, Pharoah, PDP, Price, AL, Pasaniuc, B, Amos, CI, Kraft, P, and Lindstrom, S
Abstract: Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total of 296,215 cases and 301,319 controls of European ancestry, here we estimate the pair-wise genetic correlations between breast, colorectal, head/neck, lung, ovary and prostate cancer, and between cancers and 38 other diseases. We observed statistically significant genetic correlations between lung and head/neck cancer (rg = 0.57, p = 4.6 × 10-8), breast and ovarian cancer (rg = 0.24, p = 7 × 10-5), breast and lung cancer (rg = 0.18, p =1.5 × 10-6) and breast and colorectal cancer (rg = 0.15, p = 1.1 × 10-4). We also found that multiple cancers are genetically correlated with non-cancer traits including smoking, psychiatric diseases and metabolic characteristics. Functional enrichment analysis revealed a significant excess contribution of conserved and regulatory regions to cancer heritability. Our comprehensive analysis of cross-cancer heritability suggests that solid tumors arising across tissues share in part a common germline genetic basis.
Published: 2019

22. Association analyses identify 31 new risk loci for colorectal cancer susceptibility

Author: Law, PJ, Timofeeva, M, Fernandez-Rozadilla, C, Timofeeva, A, Broderick, P, Studd, J, Fernandez-Tajes, J, Farrington, S, Svinti, V, Palles, C, Orlando, G, Sud, A, Holroyd, A, Penegar, S, Theodoratou, E, Vaughan-Shaw, P, Campbell, H, Zgaga, L, Hayward, C, Campbell, A, Harris, S, Deary, IJ, Starr, O, Gatcombe, L, Pinna, M, Briggs, S, Martin, L, Jaeger, E, Sharma-Oates, A, East, J, Leedham, S, Arnold, R, Johnstone, E, Wang, H, Kerr, D, Kerr, R, Maughan, T, Kaplan, R, Al-Tassan, N, Palin, K, Hanninen, UA, Cajuso, T, Tanskanen, T, Kondelin, J, Kaasinen, E, Sarin, A-P, Eriksson, JG, Rissanen, H, Knekt, P, Pukkala, E, Jousilahti, P, Salomaa, V, Ripatti, S, Palotie, A, Renkonen-Sinisalo, L, Lepisto, A, Bohm, J, Mecklin, J-P, Buchanan, DD, Win, A-K, Hopper, J, Jenkins, ME, Lindor, NM, Newcomb, PA, Gallinger, S, Duggan, D, Casey, G, Hoffmann, P, Nothen, MM, Jockel, K-H, Easton, DF, Pharoah, PDP, Peto, J, Canzian, F, Swerdlow, A, Eeles, RA, Kote-Jarai, Z, Muir, K, Pashayan, N, Harkin, A, Allan, K, McQueen, J, Paul, J, Iveson, T, Saunders, M, Butterbach, K, Chang-Claude, J, Hoffmeister, M, Brenner, H, Kirac, I, Matosevic, P, Hofer, P, Brezina, S, Gsur, A, Cheadle, JP, Aaltonen, LA, Tomlinson, I, Houlston, RS, Dunlop, MG, Henderson, BE, Haiman, CA, Schumacher, FR, Al Olama, AA, Benlloch, S, Berndt, S, Conti, D, Wiklund, F, Chanock, S, Gapstur, S, Stevens, VL, Tangen, CM, Batra, J, Clements, J, Gronberg, H, Schleutker, J, Albanes, D, Wolk, A, West, C, Mucci, L, Cancel-Tassin, G, Koutros, S, Sorensen, KD, Grindeda, EM, Neal, DE, Hamdy, FC, Donovan, JL, Travis, RC, Hamilton, RJ, Ingles, SA, Rosenstein, BS, Lu, Y-J, Giles, GG, Kibel, AS, Vega, A, Kogevinas, M, Penney, KL, Park, JY, Stanford, JL, Cybulski, C, Nordestgaard, BG, Maier, C, Kim, J, John, EM, Teixeira, MR, Neuhausen, SL, De Ruyck, K, Razack, A, Newcomb, LF, Gamulin, M, Kaneva, R, Usmani, N, Claessens, F, Townsend, PA, Gago-Dominguez, M, Roobol, MJ, Menegaux, F, Khaw, K-T, Cannon-Albright, L, Pandha, H, Thibodeau, SN, Law, PJ, Timofeeva, M, Fernandez-Rozadilla, C, Timofeeva, A, Broderick, P, Studd, J, Fernandez-Tajes, J, Farrington, S, Svinti, V, Palles, C, Orlando, G, Sud, A, Holroyd, A, Penegar, S, Theodoratou, E, Vaughan-Shaw, P, Campbell, H, Zgaga, L, Hayward, C, Campbell, A, Harris, S, Deary, IJ, Starr, O, Gatcombe, L, Pinna, M, Briggs, S, Martin, L, Jaeger, E, Sharma-Oates, A, East, J, Leedham, S, Arnold, R, Johnstone, E, Wang, H, Kerr, D, Kerr, R, Maughan, T, Kaplan, R, Al-Tassan, N, Palin, K, Hanninen, UA, Cajuso, T, Tanskanen, T, Kondelin, J, Kaasinen, E, Sarin, A-P, Eriksson, JG, Rissanen, H, Knekt, P, Pukkala, E, Jousilahti, P, Salomaa, V, Ripatti, S, Palotie, A, Renkonen-Sinisalo, L, Lepisto, A, Bohm, J, Mecklin, J-P, Buchanan, DD, Win, A-K, Hopper, J, Jenkins, ME, Lindor, NM, Newcomb, PA, Gallinger, S, Duggan, D, Casey, G, Hoffmann, P, Nothen, MM, Jockel, K-H, Easton, DF, Pharoah, PDP, Peto, J, Canzian, F, Swerdlow, A, Eeles, RA, Kote-Jarai, Z, Muir, K, Pashayan, N, Harkin, A, Allan, K, McQueen, J, Paul, J, Iveson, T, Saunders, M, Butterbach, K, Chang-Claude, J, Hoffmeister, M, Brenner, H, Kirac, I, Matosevic, P, Hofer, P, Brezina, S, Gsur, A, Cheadle, JP, Aaltonen, LA, Tomlinson, I, Houlston, RS, Dunlop, MG, Henderson, BE, Haiman, CA, Schumacher, FR, Al Olama, AA, Benlloch, S, Berndt, S, Conti, D, Wiklund, F, Chanock, S, Gapstur, S, Stevens, VL, Tangen, CM, Batra, J, Clements, J, Gronberg, H, Schleutker, J, Albanes, D, Wolk, A, West, C, Mucci, L, Cancel-Tassin, G, Koutros, S, Sorensen, KD, Grindeda, EM, Neal, DE, Hamdy, FC, Donovan, JL, Travis, RC, Hamilton, RJ, Ingles, SA, Rosenstein, BS, Lu, Y-J, Giles, GG, Kibel, AS, Vega, A, Kogevinas, M, Penney, KL, Park, JY, Stanford, JL, Cybulski, C, Nordestgaard, BG, Maier, C, Kim, J, John, EM, Teixeira, MR, Neuhausen, SL, De Ruyck, K, Razack, A, Newcomb, LF, Gamulin, M, Kaneva, R, Usmani, N, Claessens, F, Townsend, PA, Gago-Dominguez, M, Roobol, MJ, Menegaux, F, Khaw, K-T, Cannon-Albright, L, Pandha, H, and Thibodeau, SN
Abstract: Colorectal cancer (CRC) is a leading cause of cancer-related death worldwide, and has a strong heritable basis. We report a genome-wide association analysis of 34,627 CRC cases and 71,379 controls of European ancestry that identifies SNPs at 31 new CRC risk loci. We also identify eight independent risk SNPs at the new and previously reported European CRC loci, and a further nine CRC SNPs at loci previously only identified in Asian populations. We use in situ promoter capture Hi-C (CHi-C), gene expression, and in silico annotation methods to identify likely target genes of CRC SNPs. Whilst these new SNP associations implicate target genes that are enriched for known CRC pathways such as Wnt and BMP, they also highlight novel pathways with no prior links to colorectal tumourigenesis. These findings provide further insight into CRC susceptibility and enhance the prospects of applying genetic risk scores to personalised screening and prevention.
Published: 2019

23. Shared heritability and functional enrichment across six solid cancers (vol 10, 431, 2019)

Author: Jiang, X, Finucane, HK, Schumacher, FR, Schmit, SL, Tyrer, JP, Han, Y, Michailidou, K, Lesseur, C, Kuchenbaecker, KB, Dennis, J, Conti, DV, Casey, G, Gaudet, MM, Huyghe, JR, Albanes, D, Aldrich, MC, Andrew, AS, Andrulis, IL, Anton-Culver, H, Antoniou, AC, Antonenkova, NN, Arnold, SM, Aronson, KJ, Arun, BK, Bandera, EV, Barkardottir, RB, Barnes, DR, Batra, J, Beckmann, MW, Benitez, J, Benlloch, S, Berchuck, A, Berndt, SI, Bickeboller, H, Bien, SA, Blomqvist, C, Boccia, S, Bogdanova, NV, Bojesen, SE, Bolla, MK, Brauch, H, Brenner, H, Brenton, JD, Brook, MN, Brunet, J, Brunnstrom, H, Buchanan, DD, Burwinkel, B, Butzow, R, Cadoni, G, Caldes, T, Caligo, MA, Campbell, I, Campbell, PT, Cancel-Tassin, G, Cannon-Albright, L, Campa, D, Caporaso, N, Carvalho, AL, Chan, AT, Chang-Claude, J, Chanock, SJ, Chen, C, Christiani, DC, Claes, KBM, Claessens, F, Clements, J, Collee, JM, Correa, MC, Couch, FJ, Cox, A, Cunningham, JM, Cybulski, C, Czene, K, Daly, MB, deFazio, A, Devilee, P, Diez, O, Gago-Dominguez, M, Donovan, JL, Dork, T, Duell, EJ, Dunning, AM, Dwek, M, Eccles, DM, Edlund, CK, Edwards, DRV, Ellberg, C, Evans, DG, Fasching, PA, Ferris, RL, Liloglou, T, Figueiredo, JC, Fletcher, O, Fortner, RT, Fostira, F, Franceschi, S, Friedman, E, Gallinger, SJ, Ganz, PA, Garber, J, Garcia-Saenz, JA, Gayther, SA, Giles, GG, Godwin, AK, Goldberg, MS, Goldgar, DE, Goode, EL, Goodman, MT, Goodman, G, Grankvist, K, Greene, MH, Gronberg, H, Gronwald, J, Guenel, P, Hakansson, N, Hall, P, Hamann, U, Hamdy, FC, Hamilton, RJ, Hampe, J, Haugen, A, Heitz, F, Herrero, R, Hillemanns, P, Hoffmeister, M, Hogdall, E, Hong, Y-C, Hopper, JL, Houlston, R, Hulick, PJ, Hunter, DJ, Huntsman, DG, Idos, G, Imyanitov, EN, Ingles, SA, Isaacs, C, Jakubowska, A, James, P, Jenkins, MA, Johansson, M, John, EM, Joshi, AD, Kaneva, R, Karlan, BY, Kelemen, LE, Kuehl, T, Khaw, K-T, Khusnutdinova, E, Kibel, AS, Kiemeney, LA, Kim, J, Kjaer, SK, Knight, JA, Kogevinas, M, Kote-Jarai, Z, Koutros, S, Kristensen, VN, Kupryjanczyk, J, Lacko, M, Lam, S, Lambrechts, D, Landi, MT, Lazarus, P, Le, ND, Lee, E, Lejbkowicz, F, Lenz, H-J, Leslie, G, Lessel, D, Lester, J, Levine, DA, Li, L, Li, CI, Lindblom, A, Lindor, NM, Liu, G, Loupakis, F, Lubinski, J, Maehle, L, Maier, C, Mannermaa, A, Le Marchand, L, Margolin, S, May, T, McGuffog, L, Meindl, A, Middha, P, Miller, A, Milne, RL, MacInnis, RJ, Modugno, F, Montagna, M, Moreno, V, Moysich, KB, Mucci, L, Muir, K, Mulligan, AM, Nathanson, KL, Neal, DE, Ness, AR, Neuhausen, SL, Nevanlinna, H, Newcomb, PA, Newcomb, LF, Nielsen, FC, Nikitina-Zake, L, Nordestgaard, BG, Nussbaum, RL, Offit, K, Olah, E, Al Olama, AA, Olopade, OI, Olshan, AF, Olsson, H, Osorio, A, Pandha, H, Park, JY, Pashayan, N, Parsons, MT, Pejovic, T, Penney, KL, Peters, WHM, Phelan, CM, Phipps, AI, Plaseska-Karanfilska, D, Pring, M, Prokofyeva, D, Radice, P, Stefansson, K, Ramus, SJ, Raskin, L, Rennert, G, Rennert, HS, van Rensburg, EJ, Riggan, MJ, Risch, HA, Risch, A, Roobol, MJ, Rosenstein, BS, Rossing, MA, De Ruyck, K, Saloustros, E, Sandler, DP, Sawyer, EJ, Schabath, MB, Schleutker, J, Schmidt, MK, Setiawan, VW, Shen, H, Siegel, EM, Sieh, W, Singer, CF, Slattery, ML, Sorensen, KD, Southey, MC, Spurdle, AB, Stanford, JL, Stevens, VL, Stintzing, S, Stone, J, Sundfeldt, K, Sutphen, R, Swerdlow, AJ, Tajara, EH, Tangen, CM, Tardon, A, Taylor, JA, Teare, MD, Teixeira, MR, Terry, MB, Terry, KL, Thibodeau, SN, Thomassen, M, Bjorge, L, Tischkowitz, M, Toland, AE, Torres, D, Townsend, PA, Travis, RC, Tung, N, Tworoger, SS, Ulrich, CM, Usmani, N, Vachon, CM, Van Nieuwenhuysen, E, Vega, A, Elias Aguado-Barrera, M, Wang, Q, Webb, PM, Weinberg, CR, Weinstein, S, Weissler, MC, Weitzel, JN, West, CML, White, E, Whittemore, AS, Wichmann, H-E, Wiklund, F, Winqvist, R, Wolk, A, Woll, P, Woods, M, Wu, AH, Wu, X, Yannoukakos, D, Zheng, W, Zienolddiny, S, Ziogas, A, Zorn, KK, Lane, JM, Saxena, R, Thomas, D, Hung, RJ, Diergaarde, B, McKay, J, Peters, U, Hsu, L, Garcia-Closas, M, Eeles, RA, Chenevix-Trench, G, Brennan, PJ, Haiman, CA, Simard, J, Easton, DF, Gruber, SB, Pharoah, PDP, Price, AL, Pasaniuc, B, Amos, CI, Kraft, P, Lindstrom, S, Jiang, X, Finucane, HK, Schumacher, FR, Schmit, SL, Tyrer, JP, Han, Y, Michailidou, K, Lesseur, C, Kuchenbaecker, KB, Dennis, J, Conti, DV, Casey, G, Gaudet, MM, Huyghe, JR, Albanes, D, Aldrich, MC, Andrew, AS, Andrulis, IL, Anton-Culver, H, Antoniou, AC, Antonenkova, NN, Arnold, SM, Aronson, KJ, Arun, BK, Bandera, EV, Barkardottir, RB, Barnes, DR, Batra, J, Beckmann, MW, Benitez, J, Benlloch, S, Berchuck, A, Berndt, SI, Bickeboller, H, Bien, SA, Blomqvist, C, Boccia, S, Bogdanova, NV, Bojesen, SE, Bolla, MK, Brauch, H, Brenner, H, Brenton, JD, Brook, MN, Brunet, J, Brunnstrom, H, Buchanan, DD, Burwinkel, B, Butzow, R, Cadoni, G, Caldes, T, Caligo, MA, Campbell, I, Campbell, PT, Cancel-Tassin, G, Cannon-Albright, L, Campa, D, Caporaso, N, Carvalho, AL, Chan, AT, Chang-Claude, J, Chanock, SJ, Chen, C, Christiani, DC, Claes, KBM, Claessens, F, Clements, J, Collee, JM, Correa, MC, Couch, FJ, Cox, A, Cunningham, JM, Cybulski, C, Czene, K, Daly, MB, deFazio, A, Devilee, P, Diez, O, Gago-Dominguez, M, Donovan, JL, Dork, T, Duell, EJ, Dunning, AM, Dwek, M, Eccles, DM, Edlund, CK, Edwards, DRV, Ellberg, C, Evans, DG, Fasching, PA, Ferris, RL, Liloglou, T, Figueiredo, JC, Fletcher, O, Fortner, RT, Fostira, F, Franceschi, S, Friedman, E, Gallinger, SJ, Ganz, PA, Garber, J, Garcia-Saenz, JA, Gayther, SA, Giles, GG, Godwin, AK, Goldberg, MS, Goldgar, DE, Goode, EL, Goodman, MT, Goodman, G, Grankvist, K, Greene, MH, Gronberg, H, Gronwald, J, Guenel, P, Hakansson, N, Hall, P, Hamann, U, Hamdy, FC, Hamilton, RJ, Hampe, J, Haugen, A, Heitz, F, Herrero, R, Hillemanns, P, Hoffmeister, M, Hogdall, E, Hong, Y-C, Hopper, JL, Houlston, R, Hulick, PJ, Hunter, DJ, Huntsman, DG, Idos, G, Imyanitov, EN, Ingles, SA, Isaacs, C, Jakubowska, A, James, P, Jenkins, MA, Johansson, M, John, EM, Joshi, AD, Kaneva, R, Karlan, BY, Kelemen, LE, Kuehl, T, Khaw, K-T, Khusnutdinova, E, Kibel, AS, Kiemeney, LA, Kim, J, Kjaer, SK, Knight, JA, Kogevinas, M, Kote-Jarai, Z, Koutros, S, Kristensen, VN, Kupryjanczyk, J, Lacko, M, Lam, S, Lambrechts, D, Landi, MT, Lazarus, P, Le, ND, Lee, E, Lejbkowicz, F, Lenz, H-J, Leslie, G, Lessel, D, Lester, J, Levine, DA, Li, L, Li, CI, Lindblom, A, Lindor, NM, Liu, G, Loupakis, F, Lubinski, J, Maehle, L, Maier, C, Mannermaa, A, Le Marchand, L, Margolin, S, May, T, McGuffog, L, Meindl, A, Middha, P, Miller, A, Milne, RL, MacInnis, RJ, Modugno, F, Montagna, M, Moreno, V, Moysich, KB, Mucci, L, Muir, K, Mulligan, AM, Nathanson, KL, Neal, DE, Ness, AR, Neuhausen, SL, Nevanlinna, H, Newcomb, PA, Newcomb, LF, Nielsen, FC, Nikitina-Zake, L, Nordestgaard, BG, Nussbaum, RL, Offit, K, Olah, E, Al Olama, AA, Olopade, OI, Olshan, AF, Olsson, H, Osorio, A, Pandha, H, Park, JY, Pashayan, N, Parsons, MT, Pejovic, T, Penney, KL, Peters, WHM, Phelan, CM, Phipps, AI, Plaseska-Karanfilska, D, Pring, M, Prokofyeva, D, Radice, P, Stefansson, K, Ramus, SJ, Raskin, L, Rennert, G, Rennert, HS, van Rensburg, EJ, Riggan, MJ, Risch, HA, Risch, A, Roobol, MJ, Rosenstein, BS, Rossing, MA, De Ruyck, K, Saloustros, E, Sandler, DP, Sawyer, EJ, Schabath, MB, Schleutker, J, Schmidt, MK, Setiawan, VW, Shen, H, Siegel, EM, Sieh, W, Singer, CF, Slattery, ML, Sorensen, KD, Southey, MC, Spurdle, AB, Stanford, JL, Stevens, VL, Stintzing, S, Stone, J, Sundfeldt, K, Sutphen, R, Swerdlow, AJ, Tajara, EH, Tangen, CM, Tardon, A, Taylor, JA, Teare, MD, Teixeira, MR, Terry, MB, Terry, KL, Thibodeau, SN, Thomassen, M, Bjorge, L, Tischkowitz, M, Toland, AE, Torres, D, Townsend, PA, Travis, RC, Tung, N, Tworoger, SS, Ulrich, CM, Usmani, N, Vachon, CM, Van Nieuwenhuysen, E, Vega, A, Elias Aguado-Barrera, M, Wang, Q, Webb, PM, Weinberg, CR, Weinstein, S, Weissler, MC, Weitzel, JN, West, CML, White, E, Whittemore, AS, Wichmann, H-E, Wiklund, F, Winqvist, R, Wolk, A, Woll, P, Woods, M, Wu, AH, Wu, X, Yannoukakos, D, Zheng, W, Zienolddiny, S, Ziogas, A, Zorn, KK, Lane, JM, Saxena, R, Thomas, D, Hung, RJ, Diergaarde, B, McKay, J, Peters, U, Hsu, L, Garcia-Closas, M, Eeles, RA, Chenevix-Trench, G, Brennan, PJ, Haiman, CA, Simard, J, Easton, DF, Gruber, SB, Pharoah, PDP, Price, AL, Pasaniuc, B, Amos, CI, Kraft, P, and Lindstrom, S
Abstract: An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Published: 2019

24. Long-term oncological outcomes of patients with paratesticular sarcoma

Author: Goldberg, H, Wong, L-M, Dickson, B, Catton, C, Yap, SA, Alkasab, T, Evans, A, van der Kwast, T, Jewett, MAS, Hamilton, RJ, Goldberg, H, Wong, L-M, Dickson, B, Catton, C, Yap, SA, Alkasab, T, Evans, A, van der Kwast, T, Jewett, MAS, and Hamilton, RJ
Abstract: OBJECTIVES: To present long-term oncological outcomes of patients with paratesticular sarcoma treated by a multidisciplinary team. PATIENTS AND METHODS: Patients managed at the Princess Margaret Cancer Centre, between 1990 and 2012, were analysed. A sarcoma expert performed central pathology review. Kaplan-Meier graphs compared local recurrence (LR), metastasis, and overall survival (OS) of patients treated with hemiscrotectomy vs those who did not. Univariable Cox proportional hazards analysis was performed to delineate predictors of LR, metastasis, and OS. RESULTS: Overall, 51 patients with a median (interquartile range) follow-up of 132 (51.6-226.8) months were analysed. At presentation, 92.2% (47 patients) had localised disease. Only five patients (9.8%) had undergone initially planned hemiscrotectomy. Completion and salvage hemiscrotectomy was performed in 25 (54.3%) and seven (15.2%) patients, respectively. Recurrence and metastasis occurred in 12 (25.5%) and 10 patients (19.6%), respectively. At the last follow-up, 21.6% (11 patients) had died, with eight dying from their disease. Kaplan-Meyer graphs demonstrated that hemiscrotectomy improved LR (median not reached vs 62.4 months, log-rank P = 0.008) and OS (median not reached vs 168 months, log-rank P = 0.081). Univariable analysis found hemiscrotectomy to be associated with a lower LR rate (hazard ratio [HR] 0.21, P = 0.02), whilst positive margins at initial surgery were associated with increased LR (HR 4.81, P = 0.047). No metastasis predictors were found, but age (HR 1.04, 95% confidence interval [CI] 1.0-1.08; P = 0.02) and non-localised disease at presentation (HR5.17, 95% CI 1.33-20.06; P = 0.017) were associated with worse OS. CONCLUSION: Paratesticular sarcoma is a rare tumour, predominantly manifesting as localised disease. Most patients receive an initial suboptimal oncological surgery. Improved long-term outcomes are demonstrated following early hemiscrotectomy.
Published: 2019

25. Germline variation at 8q24 and prostate cancer risk in men of European ancestry

Author: Matejcic, M, Saunders, EJ, Dadaev, T, Brook, MN, Wang, K, Sheng, X, Olama, AAA, Schumacher, FR, Ingles, SA, Govindasami, K, Benlloch, S, Berndt, SI, Albanes, D, Koutros, S, Muir, K, Stevens, VL, Gapstur, SM, Tangen, CM, Batra, J, Clements, J, Gronberg, H, Pashayan, N, Schleutker, J, Wolk, A, West, C, Mucci, L, Kraft, P, Cancel-Tassin, G, Sorensen, KD, Maehle, L, Grindedal, EM, Strom, SS, Neal, DE, Hamdy, FC, Donovan, JL, Travis, RC, Hamilton, RJ, Rosenstein, B, Lu, YJ, Giles, GG, Kibel, AS, Vega, A, Bensen, JT, Kogevinas, M, Penney, KL, Park, JY, Stanford, JL, Cybulski, C, Nordestgaard, BG, Brenner, H, Maier, C, Kim, J, Teixeira, MR, Neuhausen, SL, De Ruyck, K, Razack, A, Newcomb, LF, Lessel, D, Kaneva, R, Usmani, N, Claessens, F, Townsend, PA, Dominguez, MG, Roobol, MJ, Menegaux, F, Khaw, KT, Cannon-Albright, LA, Pandha, H, Thibodeau, SN, Schaid, DJ, Henderson, BE, Stern, MC, Thwaites, A, Guy, M, Whitmore, I, Morgan, A, Fisher, C, Hazel, S, Livni, N, Cook, M, Fachal, L, Weinstein, S, Beane Freeman, LE, Hoover, RN, Machiela, MJ, Lophatananon, A, Carter, BD, Goodman, P, Moya, L, Srinivasan, S, Kedda, MA, Yeadon, T, Eckert, A, Eklund, M, Cavalli-Bjoerkman, C, Dunning, AM, Sipeky, C, Hakansson, N, Elliott, R, and Ranu, H
Subjects: Genetic Markers, Male, Genotype, European Continental Ancestry Group, Prostatic Neoplasms, Chromosome Mapping, Risk Assessment, Haplotypes, Risk Factors, Case-Control Studies, Humans, Genetic Predisposition to Disease, Disease Susceptibility, Chromosomes, Human, Pair 8
Abstract: © 2018, The Author(s). Chromosome 8q24 is a susceptibility locus for multiple cancers, including prostate cancer. Here we combine genetic data across the 8q24 susceptibility region from 71,535 prostate cancer cases and 52,935 controls of European ancestry to define the overall contribution of germline variation at 8q24 to prostate cancer risk. We identify 12 independent risk signals for prostate cancer (p < 4.28 × 10−15), including three risk variants that have yet to be reported. From a polygenic risk score (PRS) model, derived to assess the cumulative effect of risk variants at 8q24, men in the top 1% of the PRS have a 4-fold (95%CI = 3.62–4.40) greater risk compared to the population average. These 12 variants account for ~25% of what can be currently explained of the familial risk of prostate cancer by known genetic risk factors. These findings highlight the overwhelming contribution of germline variation at 8q24 on prostate cancer risk which has implications for population risk stratification.
Published: 2018

26. Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants

Author: Dadaev, T, Saunders, EJ, Newcombe, PJ, Anokian, E, Leongamornlert, DA, Brook, MN, Cieza-Borrella, C, Mijuskovic, M, Wakerell, S, Olama, AAA, Schumacher, FR, Berndt, SI, Benlloch, S, Ahmed, M, Goh, C, Sheng, X, Zhang, Z, Muir, K, Govindasami, K, Lophatananon, A, Stevens, VL, Gapstur, SM, Carter, BD, Tangen, CM, Goodman, P, Thompson, IM, Batra, J, Chambers, S, Moya, L, Clements, J, Horvath, L, Tilley, W, Risbridger, G, Gronberg, H, Aly, M, Nordström, T, Pharoah, P, Pashayan, N, Schleutker, J, Tammela, TLJ, Sipeky, C, Auvinen, A, Albanes, D, Weinstein, S, Wolk, A, Hakansson, N, West, C, Dunning, AM, Burnet, N, Mucci, L, Giovannucci, E, Andriole, G, Cussenot, O, Cancel-Tassin, G, Koutros, S, Freeman, LEB, Sorensen, KD, Orntoft, TF, Borre, M, Maehle, L, Grindedal, EM, Neal, DE, Donovan, JL, Hamdy, FC, Martin, RM, Travis, RC, Key, TJ, Hamilton, RJ, Fleshner, NE, Finelli, A, Ingles, SA, Stern, MC, Rosenstein, B, Kerns, S, Ostrer, H, Lu, Y-J, Zhang, H-W, Feng, N, Mao, X, Guo, X, Wang, G, Sun, Z, Giles, GG, Southey, MC, Macinnis, RJ, Fitzgerald, LM, Kibel, AS, Drake, BF, Vega, A, Gómez-Caamaño, A, Fachal, L, Szulkin, R, Eklund, M, Kogevinas, M, Llorca, J, Castaño-Vinyals, G, Penney, KL, Stampfer, M, Park, JY, Sellers, TA, Lin, H-Y, Stanford, JL, Cybulski, C, Wokolorczyk, D, Lubinski, J, Ostrander, EA, Geybels, MS, Nordestgaard, BG, Nielsen, SF, Weisher, M, Bisbjerg, R, Røder, MA, Iversen, P, Brenner, H, Cuk, K, Holleczek, B, Maier, C, Luedeke, M, Schnoeller, T, Kim, J, Logothetis, CJ, John, EM, Teixeira, MR, Paulo, P, Cardoso, M, Neuhausen, SL, Steele, L, Ding, YC, De Ruyck, K, De Meerleer, G, Ost, P, Razack, A, Lim, J, Teo, S-H, Lin, DW, Newcomb, LF, Lessel, D, Gamulin, M, Kulis, T, Kaneva, R, Usmani, N, Slavov, C, Mitev, V, Parliament, M, Singhal, S, Claessens, F, Joniau, S, Van Den Broeck, T, Larkin, S, Townsend, PA, Aukim-Hastie, C, Gago-Dominguez, M, Castelao, JE, Martinez, ME, Roobol, MJ, Jenster, G, Van Schaik, RHN, Menegaux, F, Truong, T, Koudou, YA, Xu, J, Khaw, K-T, Cannon-Albright, L, Pandha, H, Michael, A, Kierzek, A, Thibodeau, SN, McDonnell, SK, Schaid, DJ, Lindstrom, S, Turman, C, Ma, J, Hunter, DJ, Riboli, E, Siddiq, A, Canzian, F, Kolonel, LN, Le Marchand, L, Hoover, RN, Machiela, MJ, Kraft, P, Consortium, Practical (Prostate Cancer Association Group To Investigate Cancer-Associated Alterations In The Genome), Freedman, M, Wiklund, F, Chanock, S, Henderson, BE, Easton, DF, Haiman, CA, Eeles, RA, Conti, DV, Kote-Jarai, Z, Dadaev, Tokhir [0000-0002-8268-0438], Leongamornlert, Daniel A [0000-0002-3486-3168], Brook, Mark N [0000-0002-8969-2378], Olama, Ali Amin Al [0000-0002-7178-3431], Schumacher, Fredrick R [0000-0002-3073-7463], Muir, Kenneth [0000-0001-6429-988X], Batra, Jyotsna [0000-0003-4646-6247], Nordström, Tobias [0000-0003-4915-7546], Pharoah, Paul [0000-0001-8494-732X], Pashayan, Nora [0000-0003-0843-2468], Schleutker, Johanna [0000-0002-1863-0305], Sipeky, Csilla [0000-0002-8853-4722], Wolk, Alicja [0000-0001-7387-6845], Cancel-Tassin, Géraldine [0000-0002-9583-6382], Sorensen, Karina Dalsgaard [0000-0002-4902-5490], Kerns, Sarah [0000-0002-6503-0011], Ostrer, Harry [0000-0002-2209-5376], Fachal, Laura [0000-0002-7256-9752], Kogevinas, Manolis [0000-0002-9605-0461], Nordestgaard, Børge G [0000-0002-1954-7220], Lim, Jasmine [0000-0002-7501-1834], Truong, Thérèse [0000-0002-2943-6786], Xu, Jianfeng [0000-0002-1343-8752], Easton, Douglas F [0000-0003-2444-3247], Eeles, Rosalind A [0000-0002-3698-6241], Apollo - University of Cambridge Repository, National Institutes of Health, Urology, and Clinical Chemistry
Subjects: Male, Risk, Science, GENETIC, Quantitative Trait Loci, Black People, PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium, urologic and male genital diseases, ANNOTATION, Polymorphism, Single Nucleotide, Article, White People, REGION, GENETIC ASSOCIATION, SDG 3 - Good Health and Well-being, MD Multidisciplinary, Medicine and Health Sciences, ELEMENTS, Humans, Genetic Predisposition to Disease, GENOME-WIDE ASSOCIATION, lcsh:Science, Medicinsk genetik, MODEL SELECTION, BAYESIAN FRAMEWORK, Cancer och onkologi, Science & Technology, Chromosome Mapping, Prostatic Neoplasms, Bayes Theorem, Molecular Sequence Annotation, ASSOCIATION, JOINT ANALYSIS, RISK LOCI, STATISTICS, Multidisciplinary Sciences, Cancer and Oncology, Multivariate Analysis, Science & Technology - Other Topics, lcsh:Q, Medical Genetics, Algorithms, VARIABLE-SELECTION, Genome-Wide Association Study
Abstract: Prostate cancer is a polygenic disease with a large heritable component. A number of common, low-penetrance prostate cancer risk loci have been identified through GWAS. Here we apply the Bayesian multivariate variable selection algorithm JAM to fine-map 84 prostate cancer susceptibility loci, using summary data from a large European ancestry meta-analysis. We observe evidence for multiple independent signals at 12 regions and 99 risk signals overall. Only 15 original GWAS tag SNPs remain among the catalogue of candidate variants identified; the remainder are replaced by more likely candidates. Biological annotation of our credible set of variants indicates significant enrichment within promoter and enhancer elements, and transcription factor-binding sites, including AR, ERG and FOXA1. In 40 regions at least one variant is colocalised with an eQTL in prostate cancer tissue. The refined set of candidate variants substantially increase the proportion of familial relative risk explained by these known susceptibility regions, which highlights the importance of fine-mapping studies and has implications for clinical risk profiling., Prostate cancer (PrCa) involves a large heritable genetic component. Here, the authors perform multivariate fine-mapping of known PrCa GWAS loci, identifying variants enriched for biological function, explaining more familial relative risk, and with potential application in clinical risk profiling.
Published: 2018

27. Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

Author: Schumacher, FR, Al Olama, AA, Berndt, SI, Benlloch, S, Ahmed, M, Saunders, EJ, Dadaev, T, Leongamornlert, D, Anokian, E, Cieza-Borrella, C, Goh, C, Brook, MN, Sheng, X, Fachal, L, Dennis, J, Tyrer, J, Muir, K, Lophatananon, A, Stevens, VL, Gapstur, SM, Carter, BD, Tangen, CM, Goodman, PJ, Thompson, IM, Batra, J, Chambers, S, Moya, L, Clements, J, Horvath, L, Tilley, W, Risbridger, GP, Gronberg, H, Aly, M, Nordström, T, Pharoah, P, Pashayan, N, Schleutker, J, Tammela, TLJ, Sipeky, C, Auvinen, A, Albanes, D, Weinstein, S, Wolk, A, Håkansson, N, West, CML, Dunning, AM, Burnet, N, Mucci, LA, Giovannucci, E, Andriole, GL, Cussenot, O, Cancel-Tassin, G, Koutros, S, Beane Freeman, LE, Sorensen, KD, Orntoft, TF, Borre, M, Maehle, L, Grindedal, EM, Neal, DE, Donovan, JL, Hamdy, FC, Martin, RM, Travis, RC, Key, TJ, Hamilton, RJ, Fleshner, NE, Finelli, A, Ingles, SA, Stern, MC, Rosenstein, BS, Kerns, SL, Ostrer, H, Lu, YJ, Zhang, HW, Feng, N, Mao, X, Guo, X, Wang, G, Sun, Z, Giles, GG, Southey, MC, MacInnis, RJ, Fitzgerald, LM, Kibel, AS, Drake, BF, Vega, A, Gómez-Caamaño, A, Szulkin, R, Eklund, M, Kogevinas, M, Llorca, J, Castaño-Vinyals, G, Penney, KL, Stampfer, M, Park, JY, Sellers, TA, Lin, HY, Stanford, JL, Cybulski, C, Schumacher, FR, Al Olama, AA, Berndt, SI, Benlloch, S, Ahmed, M, Saunders, EJ, Dadaev, T, Leongamornlert, D, Anokian, E, Cieza-Borrella, C, Goh, C, Brook, MN, Sheng, X, Fachal, L, Dennis, J, Tyrer, J, Muir, K, Lophatananon, A, Stevens, VL, Gapstur, SM, Carter, BD, Tangen, CM, Goodman, PJ, Thompson, IM, Batra, J, Chambers, S, Moya, L, Clements, J, Horvath, L, Tilley, W, Risbridger, GP, Gronberg, H, Aly, M, Nordström, T, Pharoah, P, Pashayan, N, Schleutker, J, Tammela, TLJ, Sipeky, C, Auvinen, A, Albanes, D, Weinstein, S, Wolk, A, Håkansson, N, West, CML, Dunning, AM, Burnet, N, Mucci, LA, Giovannucci, E, Andriole, GL, Cussenot, O, Cancel-Tassin, G, Koutros, S, Beane Freeman, LE, Sorensen, KD, Orntoft, TF, Borre, M, Maehle, L, Grindedal, EM, Neal, DE, Donovan, JL, Hamdy, FC, Martin, RM, Travis, RC, Key, TJ, Hamilton, RJ, Fleshner, NE, Finelli, A, Ingles, SA, Stern, MC, Rosenstein, BS, Kerns, SL, Ostrer, H, Lu, YJ, Zhang, HW, Feng, N, Mao, X, Guo, X, Wang, G, Sun, Z, Giles, GG, Southey, MC, MacInnis, RJ, Fitzgerald, LM, Kibel, AS, Drake, BF, Vega, A, Gómez-Caamaño, A, Szulkin, R, Eklund, M, Kogevinas, M, Llorca, J, Castaño-Vinyals, G, Penney, KL, Stampfer, M, Park, JY, Sellers, TA, Lin, HY, Stanford, JL, and Cybulski, C
Abstract: © 2018 The Author(s). Genome-wide association studies (GWAS) and fine-mapping efforts to date have identified more than 100 prostate cancer (PrCa)-susceptibility loci. We meta-analyzed genotype data from a custom high-density array of 46,939 PrCa cases and 27,910 controls of European ancestry with previously genotyped data of 32,255 PrCa cases and 33,202 controls of European ancestry. Our analysis identified 62 novel loci associated (P < 5.0 × 10-8) with PrCa and one locus significantly associated with early-onset PrCa (≤55 years). Our findings include missense variants rs1800057 (odds ratio (OR) = 1.16; P = 8.2 × 10-9; G>C, p.Pro1054Arg) in ATM and rs2066827 (OR = 1.06; P = 2.3 × 10-9; T>G, p.Val109Gly) in CDKN1B. The combination of all loci captured 28.4% of the PrCa familial relative risk, and a polygenic risk score conferred an elevated PrCa risk for men in the ninetieth to ninety-ninth percentiles (relative risk = 2.69; 95% confidence interval (CI): 2.55-2.82) and first percentile (relative risk = 5.71; 95% CI: 5.04-6.48) risk stratum compared with the population average. These findings improve risk prediction, enhance fine-mapping, and provide insight into the underlying biology of PrCa 1 .
Published: 2018

28. Hyperstability masks declines in bumphead parrotfish (Bolbometopon muricatum) populations

Author: Hamilton, RJ, Almany, GR, Stevens, D, Bode, M, Pita, J, Peterson, NA, Choat, JH, Hamilton, RJ, Almany, GR, Stevens, D, Bode, M, Pita, J, Peterson, NA, and Choat, JH
Published: 2016

29. EPIDEMIOLOGY OF US WORKPLACE HYDROGEN SULFIDE FATALITIES--AN IMMEDIATELY FATAL TOXIN WITH MULTIPLE CASUALTIES

Author: Hendrickson, R, Hamilton, RJ, and Greenberg, MI
Subjects: Hydrogen sulfide -- Health aspects, Gases, Asphyxiating and poisonous -- Health aspects, Workplace accidents -- Research, Occupational mortality -- Research, Environmental issues, Health, Pharmaceuticals and cosmetics industries
Abstract: Objective: To study the characteristics of US workplace fatalities caused by hydrogen sulfide ([H.sub.2]S). Methods: Bureau of Labor Statistics fatal occupational data for the years 1992 to 1998 (inclusive) was analyzed with EPI INFO software (6.04b, 97). The demographics of the worker and the workplace, survival after injury, and activity at the time of death was some of the characteristics analyzed. Results: Of the 33,520 fatal occupational injuries in this 7-year period, 45 deaths were caused by [H.sub.2]S. The exposure was immediately fatal in 38 (84%) of the cases, 3 (7%) more died within 24 hours, and the remaining 4 died over the next two months. There were 8 episodes with two or more deaths from the same incident. Of these, 5 episodes were simultaneously exposed workers and 3 were workers who attempted to rescue exposed co-workers. Total numbers of fatalities were highest among those who had been employed less than one year (12) and in companies with greater than 100 employees (16). Workers were often cleaning, inspecting, or repairing vats, tanks, and trucks. A large number of exposures (25) occurred after entering an enclosed space. Accidents were predominantly in the oil and natural gas industries. Conclusion: [H.sub.2]S is a highly lethal workplace toxin. Fatalities, when they occur, often involve multiple casualties and co-worker rescuers. Larger companies in the oil and natural gas industries should be particularly concerned about new workers., Hendrickson R, Hamilton RJ, Greenberg MI. MCP-Hahnemann School of Medicine, Philadephia [...]
Published: 2000

30. Plant Waxes

Author: Hamilton, RJ, primary
Published: 2004
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31. Physical properties of fats, oils and emulsifiers. Edited by N Widlak. American Oil Chemists' Society Press, Champaign, IL, 2000. 260 pp. ISBN 0‐935315‐95‐0

Author: Hamilton, RJ, primary
Published: 2003
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32. Statin medication use and the risk of biochemical recurrence after radical prostatectomy: results from the Shared Equal Access Regional Cancer Hospital (SEARCH) Database.

Author: Hamilton RJ, Banez LL, Aronson WJ, Terris MK, Platz EA, Kane CJ, Presti JC Jr, Amling CL, Freedland SJ, Hamilton, Robert J, Banez, Lionel L, Aronson, William J, Terris, Martha K, Platz, Elizabeth A, Kane, Christopher J, Presti, Joseph C Jr, Amling, Christopher L, and Freedland, Stephen J
Abstract: Background: Although controversial, evidence suggests statins may reduce the risk of advanced prostate cancer (PC), and recently statin use was associated with prostate-specific antigen (PSA) reductions among men without PC. The authors sought to examine the association between statin use and PSA recurrence after radical prostatectomy (RP).Methods: The authors examined 1319 men treated with RP from the Shared Equal Access Regional Cancer Hospital (SEARCH) Database. Time to PSA recurrence was compared between users and nonusers of statin at surgery using Cox proportional hazards models adjusted for multiple clinical and pathological features.Results: In total, 236 (18%) men were taking statins at RP. Median follow-up was 24 months for statin users and 38 for nonusers. Statin users were older (P<.001) and underwent RP more recently (P<.001). Statin users were diagnosed at lower clinical stages (P=.009) and with lower PSA levels (P=.04). However, statin users tended to have higher biopsy Gleason scores (P=.002). After adjusting for multiple clinical and pathological factors, statin use was associated with a 30% lower risk of PSA recurrence (hazard ratio "HR", 0.70; 95% confidence interval "CI", 0.50-0.97; P=.03), which was dose dependent (relative to no statin use; dose equivalentsimvastatin 20 mg: HR, 0.50; 95% CI, 0.27-0.93; P=.03).Conclusions: In this cohort of men undergoing RP, statin use was associated with a dose-dependent reduction in the risk of biochemical recurrence. If confirmed in other studies, these findings suggest statins may slow PC progression after RP. [ABSTRACT FROM AUTHOR]
Published: 2010
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33. Approaches to the Synthesis of Quassinoids

Author: Hamilton, RJ, primary and Mander, LN, additional
Published: 1991
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34. DISCUSSION. DERWENT DAM.

Author: EARLY, KR, HAMILTON, RJ, PENTAM, ADM, BUCHANAN, N, POULUS, S, BROWN, RL, BURTON, AR, COLLEY, HV, MARSLAND, A, CASHMAN, PM, ROWE, PW, KEEFE, HG, BISHOP, AW, ROSENAK, S, KENNARD, MF, RUFFLE, NJ, and MCLELLAN, AG
Published: 1971
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35. Complications of ultrarapid opioid detoxification with subcutaneous naltrexone pellets.

Author: Hamilton RJ, Olmedo RE, Shah S, Hung OL, Howland MA, Perrone J, Nelson LS, Lewin NL, and Hoffman RS
Published: 2002

36. Reflections from a neonatal nurse: a philosophical dialogue.

Author: Hamilton RJ
Published: 1998
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37. Faculty-student mentoring. The case of Baby M: nursing care in an ethical wilderness... including commentary by Heliker DM.

Author: Hamilton RJ
Abstract: This is a reflective case study of an infant with Down Syndrome and a potentially fatal cardiac defect. It is a story of hope and loss, of silence and learning to speak, and of relinquishing space and standing ground. The purpose of this article is to explore the conflicting claims a neonatal intensive care (NICU) nurse faces in caring for critically ill infants. The questions of 'Who speaks?' and 'Who listens?' are addressed. The concepts of women's moral development and a nursing definition of voice are included. It is proposed that the conventional feminine voice and the embodied knowledge so integral to expert nursing actually draw strength away from the voice that needs to be permitted into the circle of decision makers when ethical issues are raised in the NICU. [ABSTRACT FROM AUTHOR]
Published: 1997
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38. Antitrust aspects of exclusive contracts in medical imaging

Author: Zaner R, James Ae, Frank A. Sloan, Hamilton Rj, W H Stephens, Greeson T, Henry P. Pendergrass, Charles W. Quimby, and B Chick
Subjects: medicine.medical_specialty, Boycott, Financial Management, media_common.quotation_subject, Medical Staff Privileges, Hospital Departments, Computed tomography, Scarcity, Consent decree, Medical Staff, Hospital, medicine, United States Federal Trade Commission, Radiology, Nuclear Medicine and imaging, media_common, Economic Competition, Radiology Department, Hospital, medicine.diagnostic_test, business.industry, Tying, Market foreclosure, Contract Services, United States, Supreme court, Surgery, Negotiation, Law, business
Abstract: Exclusive contracts between radiologists and hospitals may be more frequently scrutinized for antitrust violations because of the Hyde v Jefferson Parish Hospital District No. 2 case. In the Hyde case, the lower court decided antitrust law had been violated, and it was the first antitrust case about exclusive medical contracts to be reviewed by the U.S. Supreme Court. The case is a precedent for considering similar circumstances according to traditional business antitrust analyses such as per se violations, tying arrangements, group boycott, and market foreclosure. Areas that may be scrutinized for anticompetitiveness include hospital privileges when radiologists have exclusive contracts with the community's only hospital or provide services unique within an area, and physicians' access to scarce resources (e.g., computed tomography [CT], magnetic resonance [MR] imaging). Radiologists must understand antitrust implications of their hospital contracts; examine the terms of staff appointment, bylaws, and rights; and be able to guide their attorneys through contract negotiations.
Published: 1985

39. Legal and Ethical Issues in a Technologic Discipline

Author: A. E. James, Ronald R. Price, Henry P. Pendergrass, Frank E. Carroll, C. L. Partain, Zaner R, Hamilton Rj, Greeson T, and Chapman J
Subjects: Ethical leadership, Certification, Ethical issues, Specialty Boards, Political science, Humans, Ethics, Medical, Radiology, Nuclear Medicine and imaging, Engineering ethics, General Medicine, Radiology, United States
Published: 1986

40. Surgical treatment of hallux valgus -- the current practice in Scotland.

Author: Hamilton RJ, Gray A, and Kumar CS
Abstract: We performed a survey of all consultant orthopaedic surgeons in Scotland, enquiring about their preferred surgical options for hallux valgus.Of the 120 questionnaires sent, 76 were returned. Twelve respondents had an interest in foot surgery. Overall 76% used mainly a distal osteotomy for treatment of all grades of hallux valgus. Sixty-six percent used different osteotomies according to the severity of the deformity and 53% performed a lateral capsular release for incongruent hallux valgus. In those with an interest in foot surgery, 75% used different osteotomies and 83.3% performed a lateral release.With regards to fixation techniques for osteotomies, internal fixation was used by 58% overall and 91% of those with an interest in foot surgery. For hallux valgus without associated arthritis of the first MTP joint, Keller's procedure was used occasionally by 47% and rarely by 49%. Its use was more common in those without an interest in foot surgery. [ABSTRACT FROM AUTHOR]
Published: 2005
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41. Legal and ethical choices in a technologic discipline: imaging centers, DRGs, and the radiologist

Author: A. E. James, Greeson T, Chapman J, Ronald R. Price, C. L. Partain, Zaner R, Henry P. Pendergrass, Frank E. Carroll, and Hamilton Rj
Subjects: medicine.medical_specialty, Jurisprudence, Radiology Department, Hospital, General Medicine, Ambulatory Care Facilities, United States, medicine, Radiology, Nuclear Medicine and imaging, Medical physics, Ethics, Medical, Psychology, Radiology, Diagnosis-Related Groups
Published: 1986

42. DISCUSSION. DERWENT DAM.

Author: RUFFLE, NJ, primary, BUCHANAN, N, additional, ROWE, PW, additional, MCLELLAN, AG, additional, BURTON, AR, additional, KEEFE, HG, additional, MARSLAND, A, additional, ROSENAK, S, additional, PENTAM, ADM, additional, KENNARD, MF, additional, POULUS, S, additional, CASHMAN, PM, additional, EARLY, KR, additional, BROWN, RL, additional, BISHOP, AW, additional, HAMILTON, RJ, additional, and COLLEY, HV, additional
Published: 1971
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43. 154 VENTURE CAPITAL TO DEVELOP UNIQUE INSTRUMENTATION

Author: Ronald R. Price, A. E. James, Hamilton Rj, and Stephens Wh
Subjects: Engineering management, Engineering, business.industry, Radiology, Nuclear Medicine and imaging, General Medicine, Instrumentation (computer programming), Venture capital, business
Published: 1985