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Transcriptome-wide association study of breast cancer risk by estrogen-receptor status
Authors :
Feng, H Gusev, A Pasaniuc, B Wu, L Long, J Abu-full, Z Aittomaki, K Andrulis, IL Anton-Culver, H Antoniou, AC Arason, A Arndt, V Aronson, KJ Arun, BK Asseryanis, E Auer, PL Azzollini, J Balmana, J Barkardottir, RB Barnes, DR Barrowdale, D Beckmann, MW Behrens, S Benitez, J Bermisheva, M Bialkowska, K Blanco, A Blomqvist, C Boeckx, B Bogdanova, NV Bojesen, SE Bolla, MK Bonanni, B Borg, A Brauch, H Brenner, H Briceno, I Broeks, A Bruening, T Burwinkel, B Cai, Q Caldes, T Caligo, MA Campbell, I Canisius, S Campa, D Carter, BD Carter, J Castelao, JE Chang-Claude, J Chanock, SJ Christiansen, H Chung, WK Claes, KBM Clarke, CL Couch, FJ Cox, A Cross, SS Cybulski, C Czene, K Daly, MB de la Hoya, M De Leeneer, K Dennis, J Devilee, P Diez, O Domchek, SM Doerk, T dos-Santos-Silva, I Dunning, AM Dwek, M Eccles, DM Ejlertsen, B Ellberg, C Engel, C Eriksson, M Fasching, PA Fletcher, O Flyger, H Fostira, F Friedman, E Fritschi, L Frost, D Gabrielson, M Ganz, PA Gapstur, SM Garber, J Garcia-Closas, M Garcia-Saenz, JA Gaudet, MM Giles, GG Glendon, G Godwin, AK Goldberg, MS Goldgar, DE Gonzalez-Neira, A Greene, MH Gronwald, J Guenel, P Haiman, CA Hall, P Hamann, U Hake, C He, W Heyworth, J Hogervorst, FBL Hollestelle, A Hooning, MJ Hoover, RN Hopper, JL Huang, G Hulick, PJ Humphreys, K Imyanitov, EN Isaacs, C Jakimovska, M Jakubowska, A James, P Janavicius, R Jankowitz, RC John, EM Johnson, N Joseph, V Jung, A Karlan, BY Khusnutdinova, E Kiiski, J Konstantopoulou, I Kristensen, VN Laitman, Y Lambrechts, D Lazaro, C Leroux, D Leslie, G Lester, J Lesueur, F Lindor, N Lindstrom, S Lo, W-Y Loud, JT Lubinski, J Makalic, E Mannermaa, A Manoochehri, M Manoukian, S Margolin, S Martens, JWM Martinez, ME Matricardi, L Maurer, T Mavroudis, D McGuffog, L Meindl, A Menon, U Michailidou, K Kapoor, PM Miller, A Montagna, M Moreno, F Moserle, L Mulligan, AM Muranen, TA Nathanson, KL Neuhausen, SL Nevanlinna, H Nevelsteen, I Nielsen, FC Nikitina-Zake, L Offit, K Olah, E Olopade, O Olsson, H Osorio, A Papp, J Park-Simon, T-W Parsons, MT Pedersen, IS Peixoto, A Peterlongo, P Peto, J Pharoah, PDP Phillips, K-A Plaseska-Karanfilska, D Poppe, B Pradhan, N Prajzendanc, K Presneau, N Punie, K Pylkas, K Radice, P Rantala, J Rashid, MU Rennert, G Risch, HA Robson, M Romero, A Saloustros, E Sandler, DP Santos, C Sawyer, EJ Schmidt, MK Schmidt, DF Schmutzler, RK Schoemaker, MJ Scott, RJ Sharma, P Shu, X-O Simard, J Singer, CF Skytte, A-B Soucy, P Southey, MC Spinelli, JJ Spurdle, AB Stone, J Swerdlow, AJ Tapper, WJ Taylor, JA Teixeira, MR Terry, MB Teule, A Thomassen, M Thoene, K Thull, DL Tischkowitz, M Toland, AE Tollenaar, RAEM Torres, D Truong, T Tung, N Vachon, CM van Asperen, CJ van den Ouweland, AMW van Rensburg, EJ Vega, A Viel, A Vieiro-Balo, P Wang, Q Wappenschmidt, B Weinberg, CR Weitzel, J Wendt, C Winqvist, R Yang, XR Yannoukakos, D Ziogas, A Milne, RL Easton, DF Chenevix-Trench, G Zheng, W Kraft, P Jiang, X Feng, H Gusev, A Pasaniuc, B Wu, L Long, J Abu-full, Z Aittomaki, K Andrulis, IL Anton-Culver, H Antoniou, AC Arason, A Arndt, V Aronson, KJ Arun, BK Asseryanis, E Auer, PL Azzollini, J Balmana, J Barkardottir, RB Barnes, DR Barrowdale, D Beckmann, MW Behrens, S Benitez, J Bermisheva, M Bialkowska, K Blanco, A Blomqvist, C Boeckx, B Bogdanova, NV Bojesen, SE Bolla, MK Bonanni, B Borg, A Brauch, H Brenner, H Briceno, I Broeks, A Bruening, T Burwinkel, B Cai, Q Caldes, T Caligo, MA Campbell, I Canisius, S Campa, D Carter, BD Carter, J Castelao, JE Chang-Claude, J Chanock, SJ Christiansen, H Chung, WK Claes, KBM Clarke, CL Couch, FJ Cox, A Cross, SS Cybulski, C Czene, K Daly, MB de la Hoya, M De Leeneer, K Dennis, J Devilee, P Diez, O Domchek, SM Doerk, T dos-Santos-Silva, I Dunning, AM Dwek, M Eccles, DM Ejlertsen, B Ellberg, C Engel, C Eriksson, M Fasching, PA Fletcher, O Flyger, H Fostira, F Friedman, E Fritschi, L Frost, D Gabrielson, M Ganz, PA Gapstur, SM Garber, J Garcia-Closas, M Garcia-Saenz, JA Gaudet, MM Giles, GG Glendon, G Godwin, AK Goldberg, MS Goldgar, DE Gonzalez-Neira, A Greene, MH Gronwald, J Guenel, P Haiman, CA Hall, P Hamann, U Hake, C He, W Heyworth, J Hogervorst, FBL Hollestelle, A Hooning, MJ Hoover, RN Hopper, JL Huang, G Hulick, PJ Humphreys, K Imyanitov, EN Isaacs, C Jakimovska, M Jakubowska, A James, P Janavicius, R Jankowitz, RC John, EM Johnson, N Joseph, V Jung, A Karlan, BY Khusnutdinova, E Kiiski, J Konstantopoulou, I Kristensen, VN Laitman, Y Lambrechts, D Lazaro, C Leroux, D Leslie, G Lester, J Lesueur, F Lindor, N Lindstrom, S Lo, W-Y Loud, JT Lubinski, J Makalic, E Mannermaa, A Manoochehri, M Manoukian, S Margolin, S Martens, JWM Martinez, ME Matricardi, L Maurer, T Mavroudis, D McGuffog, L Meindl, A Menon, U Michailidou, K Kapoor, PM Miller, A Montagna, M Moreno, F Moserle, L Mulligan, AM Muranen, TA Nathanson, KL Neuhausen, SL Nevanlinna, H Nevelsteen, I Nielsen, FC Nikitina-Zake, L Offit, K Olah, E Olopade, O Olsson, H Osorio, A Papp, J Park-Simon, T-W Parsons, MT Pedersen, IS Peixoto, A Peterlongo, P Peto, J Pharoah, PDP Phillips, K-A Plaseska-Karanfilska, D Poppe, B Pradhan, N Prajzendanc, K Presneau, N Punie, K Pylkas, K Radice, P Rantala, J Rashid, MU Rennert, G Risch, HA Robson, M Romero, A Saloustros, E Sandler, DP Santos, C Sawyer, EJ Schmidt, MK Schmidt, DF Schmutzler, RK Schoemaker, MJ Scott, RJ Sharma, P Shu, X-O Simard, J Singer, CF Skytte, A-B Soucy, P Southey, MC Spinelli, JJ Spurdle, AB Stone, J Swerdlow, AJ Tapper, WJ Taylor, JA Teixeira, MR Terry, MB Teule, A Thomassen, M Thoene, K Thull, DL Tischkowitz, M Toland, AE Tollenaar, RAEM Torres, D Truong, T Tung, N Vachon, CM van Asperen, CJ van den Ouweland, AMW van Rensburg, EJ Vega, A Viel, A Vieiro-Balo, P Wang, Q Wappenschmidt, B Weinberg, CR Weitzel, J Wendt, C Winqvist, R Yang, XR Yannoukakos, D Ziogas, A Milne, RL Easton, DF Chenevix-Trench, G Zheng, W Kraft, P Jiang, X
Publication Year :
2020
Abstract
Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER-). We further compared associations with ER+ and ER- subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER- breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER- breast cancer.
Details
Database :
OAIster
Publication Type :
Electronic Resource
Accession number :
edsoai.on1315668449
Document Type :
Electronic Resource