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Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

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Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. / Feng, Helian; Gusev, Alexander; Pasaniuc, Bogdan; Wu, Lang; Long, Jirong; Abu-Full, Zomoroda; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Antoniou, Antonis C; Arason, Adalgeir; Arndt, Volker; Aronson, Kristan J; Arun, Banu K; Asseryanis, Ella; Auer, Paul L; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B; Barnes, Daniel R; Barrowdale, Daniel; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Białkowska, Katarzyna; Blanco, Ana; Blomqvist, Carl; Boeckx, Bram; Bogdanova, Natalia V; Bojesen, Stig E; Bolla, Manjeet K; Bonanni, Bernardo; Borg, Ake; Brauch, Hiltrud; Brenner, Hermann; Briceno, Ignacio; Broeks, Annegien; Brüning, Thomas; Burwinkel, Barbara; Cai, Qiuyin; Caldés, Trinidad; Caligo, Maria A; Campbell, Ian; Canisius, Sander; Campa, Daniele; Carter, Brian D; Carter, Jonathan; Castelao, Jose E; Chang-Claude, Jenny; Chanock, Stephen J; Christiansen, Hans; Chung, Wendy K; Claes, Kathleen B M; Clarke, Christine L; Couch, Fergus J; Cox, Angela; Cross, Simon S; Cybulski, Cezary; Czene, Kamila; Daly, Mary B; de la Hoya, Miguel; De Leeneer, Kim; Dennis, Joe; Devilee, Peter; Diez, Orland; Domchek, Susan M; Dörk, Thilo; Dos-Santos-Silva, Isabel; Dunning, Alison M; Dwek, Miriam; Eccles, Diana M; Ejlertsen, Bent; Ellberg, Carolina; Engel, Christoph; Eriksson, Mikael; Fasching, Peter A; Fletcher, Olivia; Flyger, Henrik; Fostira, Florentia; Friedman, Eitan; Fritschi, Lin; Frost, Debra; Gabrielson, Marike; Ganz, Patricia A; Gapstur, Susan M; Garber, Judy; García-Closas, Montserrat; García-Sáenz, José A; Gaudet, Mia M; Giles, Graham G; Glendon, Gord; Godwin, Andrew K; Goldberg, Mark S; Goldgar, David E; González-Neira, Anna; Greene, Mark H; Gronwald, Jacek; Guénel, Pascal; Haiman, Christopher A; Hall, Per; Hamann, Ute; Hake, Christopher; He, Wei; Heyworth, Jane; Hogervorst, Frans B L; Hollestelle, Antoinette; Hooning, Maartje J; Hoover, Robert N; Hopper, John L; Huang, Guanmengqian; Hulick, Peter J; Humphreys, Keith; Imyanitov, Evgeny N; Isaacs, Claudine; Jakimovska, Milena; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Jankowitz, Rachel C; John, Esther M; Johnson, Nichola; Joseph, Vijai; Jung, Audrey; Karlan, Beth Y; Khusnutdinova, Elza; Kiiski, Johanna I; Konstantopoulou, Irene; Kristensen, Vessela N; Laitman, Yael; Lambrechts, Diether; Lazaro, Conxi; Leroux, Dominique; Leslie, Goska; Lester, Jenny; Lesueur, Fabienne; Lindor, Noralane; Lindström, Sara; Lo, Wing-Yee; Loud, Jennifer T; Lubiński, Jan; Makalic, Enes; Mannermaa, Arto; Manoochehri, Mehdi; Manoukian, Siranoush; Margolin, Sara; Martens, John W M; Martinez, Maria E; Matricardi, Laura; Maurer, Tabea; Mavroudis, Dimitrios; McGuffog, Lesley; Meindl, Alfons; Menon, Usha; Michailidou, Kyriaki; Kapoor, Pooja M; Miller, Austin; Montagna, Marco; Moreno, Fernando; Moserle, Lidia; Mulligan, Anna M; Muranen, Taru A; Nathanson, Katherine L; Neuhausen, Susan L; Nevanlinna, Heli; Nevelsteen, Ines; Nielsen, Finn C; Nikitina-Zake, Liene; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I; Olsson, Håkan; Osorio, Ana; Papp, Janos; Park-Simon, Tjoung-Won; Parsons, Michael T; Pedersen, Inge S; Peixoto, Ana; Peterlongo, Paolo; Peto, Julian; Pharoah, Paul D P; Phillips, Kelly-Anne; Plaseska-Karanfilska, Dijana; Poppe, Bruce; Pradhan, Nisha; Prajzendanc, Karolina; Presneau, Nadege; Punie, Kevin; Pylkäs, Katri; Radice, Paolo; Rantala, Johanna; Rashid, Muhammad Usman; Rennert, Gad; Risch, Harvey A; Robson, Mark; Romero, Atocha; Saloustros, Emmanouil; Sandler, Dale P; Santos, Catarina; Sawyer, Elinor J; Schmidt, Marjanka K; Schmidt, Daniel F; Schmutzler, Rita K; Schoemaker, Minouk J; Scott, Rodney J; Sharma, Priyanka; Shu, Xiao-Ou; Simard, Jacques; Singer, Christian F; Skytte, Anne-Bine; Soucy, Penny; Southey, Melissa C; Spinelli, John J; Spurdle, Amanda B; Stone, Jennifer; Swerdlow, Anthony J; Tapper, William J; Taylor, Jack A; Teixeira, Manuel R; Terry, Mary Beth; Teulé, Alex; Thomassen, Mads; Thöne, Kathrin; Thull, Darcy L; Tischkowitz, Marc; Toland, Amanda E; Tollenaar, Rob A E M; Torres, Diana; Truong, Thérèse; Tung, Nadine; Vachon, Celine M; van Asperen, Christi J; van den Ouweland, Ans M W; van Rensburg, Elizabeth J; Vega, Ana; Viel, Alessandra; Vieiro-Balo, Paula; Wang, Qin; Wappenschmidt, Barbara; Weinberg, Clarice R; Weitzel, Jeffrey N; Wendt, Camilla; Winqvist, Robert; Yang, Xiaohong R; Yannoukakos, Drakoulis; Ziogas, Argyrios; Milne, Roger L; Easton, Douglas F; Chenevix-Trench, Georgia; Zheng, Wei; Kraft, Peter; Jiang, Xia; GEMO Study Collaborators.

in: GENET EPIDEMIOL, Jahrgang 44, Nr. 5, 07.2020, S. 442-468.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Feng, H, Gusev, A, Pasaniuc, B, Wu, L, Long, J, Abu-Full, Z, Aittomäki, K, Andrulis, IL, Anton-Culver, H, Antoniou, AC, Arason, A, Arndt, V, Aronson, KJ, Arun, BK, Asseryanis, E, Auer, PL, Azzollini, J, Balmaña, J, Barkardottir, RB, Barnes, DR, Barrowdale, D, Behrens, S, Benitez, J, Bermisheva, M, Białkowska, 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, Brüning, T, Burwinkel, B, Cai, Q, Caldés, 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, Dörk, 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, García-Closas, M, García-Sáenz, JA, Gaudet, MM, Giles, GG, Glendon, G, Godwin, AK, Goldberg, MS, Goldgar, DE, González-Neira, A, Greene, MH, Gronwald, J, Guénel, 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, JI, Konstantopoulou, I, Kristensen, VN, Laitman, Y, Lambrechts, D, Lazaro, C, Leroux, D, Leslie, G, Lester, J, Lesueur, F, Lindor, N, Lindström, S, Lo, W-Y, Loud, JT, Lubiński, 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, OI, 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, Pylkäs, 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, Teulé, A, Thomassen, M, Thöne, 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, JN, Wendt, C, Winqvist, R, Yang, XR, Yannoukakos, D, Ziogas, A, Milne, RL, Easton, DF, Chenevix-Trench, G, Zheng, W, Kraft, P, Jiang, X & GEMO Study Collaborators 2020, 'Transcriptome-wide association study of breast cancer risk by estrogen-receptor status', GENET EPIDEMIOL, Jg. 44, Nr. 5, S. 442-468. https://doi.org/10.1002/gepi.22288

APA

Feng, H., Gusev, A., Pasaniuc, B., Wu, L., Long, J., Abu-Full, Z., Aittomäki, K., Andrulis, I. L., Anton-Culver, H., Antoniou, A. C., Arason, A., Arndt, V., Aronson, K. J., Arun, B. K., Asseryanis, E., Auer, P. L., Azzollini, J., Balmaña, J., Barkardottir, R. B., ... GEMO Study Collaborators (2020). Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. GENET EPIDEMIOL, 44(5), 442-468. https://doi.org/10.1002/gepi.22288

Vancouver

Feng H, Gusev A, Pasaniuc B, Wu L, Long J, Abu-Full Z et al. Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. GENET EPIDEMIOL. 2020 Jul;44(5):442-468. https://doi.org/10.1002/gepi.22288

Bibtex

@article{5b09be371b1a408f8a77f7723457a965,
title = "Transcriptome-wide association study of breast cancer risk by estrogen-receptor status",
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.",
author = "Helian Feng and Alexander Gusev and Bogdan Pasaniuc and Lang Wu and Jirong Long and Zomoroda Abu-Full and Kristiina Aittom{\"a}ki and Andrulis, {Irene L} and Hoda Anton-Culver and Antoniou, {Antonis C} and Adalgeir Arason and Volker Arndt and Aronson, {Kristan J} and Arun, {Banu K} and Ella Asseryanis and Auer, {Paul L} and Jacopo Azzollini and Judith Balma{\~n}a and Barkardottir, {Rosa B} and Barnes, {Daniel R} and Daniel Barrowdale and Sabine Behrens and Javier Benitez and Marina Bermisheva and Katarzyna Bia{\l}kowska and Ana Blanco and Carl Blomqvist and Bram Boeckx and Bogdanova, {Natalia V} and Bojesen, {Stig E} and Bolla, {Manjeet K} and Bernardo Bonanni and Ake Borg and Hiltrud Brauch and Hermann Brenner and Ignacio Briceno and Annegien Broeks and Thomas Br{\"u}ning and Barbara Burwinkel and Qiuyin Cai and Trinidad Cald{\'e}s and Caligo, {Maria A} and Ian Campbell and Sander Canisius and Daniele Campa and Carter, {Brian D} and Jonathan Carter and Castelao, {Jose E} and Jenny Chang-Claude and Chanock, {Stephen J} and Hans Christiansen and Chung, {Wendy K} and Claes, {Kathleen B M} and Clarke, {Christine L} and Couch, {Fergus J} and Angela Cox and Cross, {Simon S} and Cezary Cybulski and Kamila Czene and Daly, {Mary B} and {de la Hoya}, Miguel and {De Leeneer}, Kim and Joe Dennis and Peter Devilee and Orland Diez and Domchek, {Susan M} and Thilo D{\"o}rk and Isabel Dos-Santos-Silva and Dunning, {Alison M} and Miriam Dwek and Eccles, {Diana M} and Bent Ejlertsen and Carolina Ellberg and Christoph Engel and Mikael Eriksson and Fasching, {Peter A} and Olivia Fletcher and Henrik Flyger and Florentia Fostira and Eitan Friedman and Lin Fritschi and Debra Frost and Marike Gabrielson and Ganz, {Patricia A} and Gapstur, {Susan M} and Judy Garber and Montserrat Garc{\'i}a-Closas and Garc{\'i}a-S{\'a}enz, {Jos{\'e} A} and Gaudet, {Mia M} and Giles, {Graham G} and Gord Glendon and Godwin, {Andrew K} and Goldberg, {Mark S} and Goldgar, {David E} and Anna Gonz{\'a}lez-Neira and Greene, {Mark H} and Jacek Gronwald and Pascal Gu{\'e}nel and Haiman, {Christopher A} and Per Hall and Ute Hamann and Christopher Hake and Wei He and Jane Heyworth and Hogervorst, {Frans B L} and Antoinette Hollestelle and Hooning, {Maartje J} and Hoover, {Robert N} and Hopper, {John L} and Guanmengqian Huang and Hulick, {Peter J} and Keith Humphreys and Imyanitov, {Evgeny N} and Claudine Isaacs and Milena Jakimovska and Anna Jakubowska and Paul James and Ramunas Janavicius and Jankowitz, {Rachel C} and John, {Esther M} and Nichola Johnson and Vijai Joseph and Audrey Jung and Karlan, {Beth Y} and Elza Khusnutdinova and Kiiski, {Johanna I} and Irene Konstantopoulou and Kristensen, {Vessela N} and Yael Laitman and Diether Lambrechts and Conxi Lazaro and Dominique Leroux and Goska Leslie and Jenny Lester and Fabienne Lesueur and Noralane Lindor and Sara Lindstr{\"o}m and Wing-Yee Lo and Loud, {Jennifer T} and Jan Lubi{\'n}ski and Enes Makalic and Arto Mannermaa and Mehdi Manoochehri and Siranoush Manoukian and Sara Margolin and Martens, {John W M} and Martinez, {Maria E} and Laura Matricardi and Tabea Maurer and Dimitrios Mavroudis and Lesley McGuffog and Alfons Meindl and Usha Menon and Kyriaki Michailidou and Kapoor, {Pooja M} and Austin Miller and Marco Montagna and Fernando Moreno and Lidia Moserle and Mulligan, {Anna M} and Muranen, {Taru A} and Nathanson, {Katherine L} and Neuhausen, {Susan L} and Heli Nevanlinna and Ines Nevelsteen and Nielsen, {Finn C} and Liene Nikitina-Zake and Kenneth Offit and Edith Olah and Olopade, {Olufunmilayo I} and H{\aa}kan Olsson and Ana Osorio and Janos Papp and Tjoung-Won Park-Simon and Parsons, {Michael T} and Pedersen, {Inge S} and Ana Peixoto and Paolo Peterlongo and Julian Peto and Pharoah, {Paul D P} and Kelly-Anne Phillips and Dijana Plaseska-Karanfilska and Bruce Poppe and Nisha Pradhan and Karolina Prajzendanc and Nadege Presneau and Kevin Punie and Katri Pylk{\"a}s and Paolo Radice and Johanna Rantala and Rashid, {Muhammad Usman} and Gad Rennert and Risch, {Harvey A} and Mark Robson and Atocha Romero and Emmanouil Saloustros and Sandler, {Dale P} and Catarina Santos and Sawyer, {Elinor J} and Schmidt, {Marjanka K} and Schmidt, {Daniel F} and Schmutzler, {Rita K} and Schoemaker, {Minouk J} and Scott, {Rodney J} and Priyanka Sharma and Xiao-Ou Shu and Jacques Simard and Singer, {Christian F} and Anne-Bine Skytte and Penny Soucy and Southey, {Melissa C} and Spinelli, {John J} and Spurdle, {Amanda B} and Jennifer Stone and Swerdlow, {Anthony J} and Tapper, {William J} and Taylor, {Jack A} and Teixeira, {Manuel R} and Terry, {Mary Beth} and Alex Teul{\'e} and Mads Thomassen and Kathrin Th{\"o}ne and Thull, {Darcy L} and Marc Tischkowitz and Toland, {Amanda E} and Tollenaar, {Rob A E M} and Diana Torres and Th{\'e}r{\`e}se Truong and Nadine Tung and Vachon, {Celine M} and {van Asperen}, {Christi J} and {van den Ouweland}, {Ans M W} and {van Rensburg}, {Elizabeth J} and Ana Vega and Alessandra Viel and Paula Vieiro-Balo and Qin Wang and Barbara Wappenschmidt and Weinberg, {Clarice R} and Weitzel, {Jeffrey N} and Camilla Wendt and Robert Winqvist and Yang, {Xiaohong R} and Drakoulis Yannoukakos and Argyrios Ziogas and Milne, {Roger L} and Easton, {Douglas F} and Georgia Chenevix-Trench and Wei Zheng and Peter Kraft and Xia Jiang and {GEMO Study Collaborators}",
note = "{\textcopyright} 2020 The Authors. Genetic Epidemiology published by Wiley Periodicals, Inc.",
year = "2020",
month = jul,
doi = "10.1002/gepi.22288",
language = "English",
volume = "44",
pages = "442--468",
journal = "GENET EPIDEMIOL",
issn = "0741-0395",
publisher = "Wiley-Liss Inc.",
number = "5",

}

RIS

TY - JOUR

T1 - Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

AU - Feng, Helian

AU - Gusev, Alexander

AU - Pasaniuc, Bogdan

AU - Wu, Lang

AU - Long, Jirong

AU - Abu-Full, Zomoroda

AU - Aittomäki, Kristiina

AU - Andrulis, Irene L

AU - Anton-Culver, Hoda

AU - Antoniou, Antonis C

AU - Arason, Adalgeir

AU - Arndt, Volker

AU - Aronson, Kristan J

AU - Arun, Banu K

AU - Asseryanis, Ella

AU - Auer, Paul L

AU - Azzollini, Jacopo

AU - Balmaña, Judith

AU - Barkardottir, Rosa B

AU - Barnes, Daniel R

AU - Barrowdale, Daniel

AU - Behrens, Sabine

AU - Benitez, Javier

AU - Bermisheva, Marina

AU - Białkowska, Katarzyna

AU - Blanco, Ana

AU - Blomqvist, Carl

AU - Boeckx, Bram

AU - Bogdanova, Natalia V

AU - Bojesen, Stig E

AU - Bolla, Manjeet K

AU - Bonanni, Bernardo

AU - Borg, Ake

AU - Brauch, Hiltrud

AU - Brenner, Hermann

AU - Briceno, Ignacio

AU - Broeks, Annegien

AU - Brüning, Thomas

AU - Burwinkel, Barbara

AU - Cai, Qiuyin

AU - Caldés, Trinidad

AU - Caligo, Maria A

AU - Campbell, Ian

AU - Canisius, Sander

AU - Campa, Daniele

AU - Carter, Brian D

AU - Carter, Jonathan

AU - Castelao, Jose E

AU - Chang-Claude, Jenny

AU - Chanock, Stephen J

AU - Christiansen, Hans

AU - Chung, Wendy K

AU - Claes, Kathleen B M

AU - Clarke, Christine L

AU - Couch, Fergus J

AU - Cox, Angela

AU - Cross, Simon S

AU - Cybulski, Cezary

AU - Czene, Kamila

AU - Daly, Mary B

AU - de la Hoya, Miguel

AU - De Leeneer, Kim

AU - Dennis, Joe

AU - Devilee, Peter

AU - Diez, Orland

AU - Domchek, Susan M

AU - Dörk, Thilo

AU - Dos-Santos-Silva, Isabel

AU - Dunning, Alison M

AU - Dwek, Miriam

AU - Eccles, Diana M

AU - Ejlertsen, Bent

AU - Ellberg, Carolina

AU - Engel, Christoph

AU - Eriksson, Mikael

AU - Fasching, Peter A

AU - Fletcher, Olivia

AU - Flyger, Henrik

AU - Fostira, Florentia

AU - Friedman, Eitan

AU - Fritschi, Lin

AU - Frost, Debra

AU - Gabrielson, Marike

AU - Ganz, Patricia A

AU - Gapstur, Susan M

AU - Garber, Judy

AU - García-Closas, Montserrat

AU - García-Sáenz, José A

AU - Gaudet, Mia M

AU - Giles, Graham G

AU - Glendon, Gord

AU - Godwin, Andrew K

AU - Goldberg, Mark S

AU - Goldgar, David E

AU - González-Neira, Anna

AU - Greene, Mark H

AU - Gronwald, Jacek

AU - Guénel, Pascal

AU - Haiman, Christopher A

AU - Hall, Per

AU - Hamann, Ute

AU - Hake, Christopher

AU - He, Wei

AU - Heyworth, Jane

AU - Hogervorst, Frans B L

AU - Hollestelle, Antoinette

AU - Hooning, Maartje J

AU - Hoover, Robert N

AU - Hopper, John L

AU - Huang, Guanmengqian

AU - Hulick, Peter J

AU - Humphreys, Keith

AU - Imyanitov, Evgeny N

AU - Isaacs, Claudine

AU - Jakimovska, Milena

AU - Jakubowska, Anna

AU - James, Paul

AU - Janavicius, Ramunas

AU - Jankowitz, Rachel C

AU - John, Esther M

AU - Johnson, Nichola

AU - Joseph, Vijai

AU - Jung, Audrey

AU - Karlan, Beth Y

AU - Khusnutdinova, Elza

AU - Kiiski, Johanna I

AU - Konstantopoulou, Irene

AU - Kristensen, Vessela N

AU - Laitman, Yael

AU - Lambrechts, Diether

AU - Lazaro, Conxi

AU - Leroux, Dominique

AU - Leslie, Goska

AU - Lester, Jenny

AU - Lesueur, Fabienne

AU - Lindor, Noralane

AU - Lindström, Sara

AU - Lo, Wing-Yee

AU - Loud, Jennifer T

AU - Lubiński, Jan

AU - Makalic, Enes

AU - Mannermaa, Arto

AU - Manoochehri, Mehdi

AU - Manoukian, Siranoush

AU - Margolin, Sara

AU - Martens, John W M

AU - Martinez, Maria E

AU - Matricardi, Laura

AU - Maurer, Tabea

AU - Mavroudis, Dimitrios

AU - McGuffog, Lesley

AU - Meindl, Alfons

AU - Menon, Usha

AU - Michailidou, Kyriaki

AU - Kapoor, Pooja M

AU - Miller, Austin

AU - Montagna, Marco

AU - Moreno, Fernando

AU - Moserle, Lidia

AU - Mulligan, Anna M

AU - Muranen, Taru A

AU - Nathanson, Katherine L

AU - Neuhausen, Susan L

AU - Nevanlinna, Heli

AU - Nevelsteen, Ines

AU - Nielsen, Finn C

AU - Nikitina-Zake, Liene

AU - Offit, Kenneth

AU - Olah, Edith

AU - Olopade, Olufunmilayo I

AU - Olsson, Håkan

AU - Osorio, Ana

AU - Papp, Janos

AU - Park-Simon, Tjoung-Won

AU - Parsons, Michael T

AU - Pedersen, Inge S

AU - Peixoto, Ana

AU - Peterlongo, Paolo

AU - Peto, Julian

AU - Pharoah, Paul D P

AU - Phillips, Kelly-Anne

AU - Plaseska-Karanfilska, Dijana

AU - Poppe, Bruce

AU - Pradhan, Nisha

AU - Prajzendanc, Karolina

AU - Presneau, Nadege

AU - Punie, Kevin

AU - Pylkäs, Katri

AU - Radice, Paolo

AU - Rantala, Johanna

AU - Rashid, Muhammad Usman

AU - Rennert, Gad

AU - Risch, Harvey A

AU - Robson, Mark

AU - Romero, Atocha

AU - Saloustros, Emmanouil

AU - Sandler, Dale P

AU - Santos, Catarina

AU - Sawyer, Elinor J

AU - Schmidt, Marjanka K

AU - Schmidt, Daniel F

AU - Schmutzler, Rita K

AU - Schoemaker, Minouk J

AU - Scott, Rodney J

AU - Sharma, Priyanka

AU - Shu, Xiao-Ou

AU - Simard, Jacques

AU - Singer, Christian F

AU - Skytte, Anne-Bine

AU - Soucy, Penny

AU - Southey, Melissa C

AU - Spinelli, John J

AU - Spurdle, Amanda B

AU - Stone, Jennifer

AU - Swerdlow, Anthony J

AU - Tapper, William J

AU - Taylor, Jack A

AU - Teixeira, Manuel R

AU - Terry, Mary Beth

AU - Teulé, Alex

AU - Thomassen, Mads

AU - Thöne, Kathrin

AU - Thull, Darcy L

AU - Tischkowitz, Marc

AU - Toland, Amanda E

AU - Tollenaar, Rob A E M

AU - Torres, Diana

AU - Truong, Thérèse

AU - Tung, Nadine

AU - Vachon, Celine M

AU - van Asperen, Christi J

AU - van den Ouweland, Ans M W

AU - van Rensburg, Elizabeth J

AU - Vega, Ana

AU - Viel, Alessandra

AU - Vieiro-Balo, Paula

AU - Wang, Qin

AU - Wappenschmidt, Barbara

AU - Weinberg, Clarice R

AU - Weitzel, Jeffrey N

AU - Wendt, Camilla

AU - Winqvist, Robert

AU - Yang, Xiaohong R

AU - Yannoukakos, Drakoulis

AU - Ziogas, Argyrios

AU - Milne, Roger L

AU - Easton, Douglas F

AU - Chenevix-Trench, Georgia

AU - Zheng, Wei

AU - Kraft, Peter

AU - Jiang, Xia

AU - GEMO Study Collaborators

N1 - © 2020 The Authors. Genetic Epidemiology published by Wiley Periodicals, Inc.

PY - 2020/7

Y1 - 2020/7

N2 - 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.

AB - 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.

U2 - 10.1002/gepi.22288

DO - 10.1002/gepi.22288

M3 - SCORING: Journal article

C2 - 32115800

VL - 44

SP - 442

EP - 468

JO - GENET EPIDEMIOL

JF - GENET EPIDEMIOL

SN - 0741-0395

IS - 5

ER -