Feng, Helian; Gusev, Alexander; Pasaniuc, Bogdan; Wu, Lang; Long, Jirong; Abu-full, Zomoroda; Aittomaki, 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; Balmana, Judith; Barkardottir, Rosa B.; Barnes, Daniel R.; Barrowdale, Daniel; Beckmann, Matthias W.; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Bialkowska, 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; Bruening, Thomas; Burwinkel, Barbara; Cai, Qiuyin; Caldes, 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.; Doerk, 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; Garcia-Closas, Montserrat; Garcia-Saenz, Jose A.; Gaudet, Mia M.; Giles, Graham G.; Glendon, Gord; Godwin, Andrew K.; Goldberg, Mark S.; Goldgar, David E.; Gonzalez-Neira, Anna; Greene, Mark H.; Gronwald, Jacek; Guenel, 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; Konstantopoulou, Irene; Kristensen, Vessela N.; Laitman, Yael; Lambrechts, Diether; Lazaro, Conxi; Leroux, Dominique; Leslie, Goska; Lester, Jenny; Lesueur, Fabienne; Lindor, Noralane; Lindstrom, Sara; Lo, Wing-Yee; Loud, Jennifer T.; Lubinski, 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; Olsson, Hakan; 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; Pylkas, 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; Teule, Alex; Thomassen, Mads; Thoene, Kathrin; Thull, Darcy L.; Tischkowitz, Marc; Toland, Amanda E.; Tollenaar, Rob A. E. M.; Torres, Diana; Truong, Therese; Tung, Nadine; Vachon, Celine M.; Asperen, Christi J. van; Ouweland, Ans M. W. van den; Rensburg, Elizabeth J. van; 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 (2020): Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. In: Genetic Epidemiology, Vol. 44, No. 5: pp. 442-468 |
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.
Item Type: | Journal article |
---|---|
Faculties: | Medicine |
Subjects: | 600 Technology > 610 Medicine and health |
ISSN: | 0741-0395 |
Language: | English |
ID Code: | 84917 |
Deposited On: | 25. Jan 2022 09:12 |
Last Modified: | 25. Jan 2022 09:12 |
- BASE
- Feng, Helian
- Gusev, Alexander
- Pasaniuc, Bogdan
- Wu, Lang
- Long, Jirong
- Abu-full, Zomoroda
- Aittomaki, 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
- Balmana, Judith
- Barkardottir, Rosa B.
- Barnes, Daniel R.
- Barrowdale, Daniel
- Beckmann, Matthias W.
- Behrens, Sabine
- Benitez, Javier
- Bermisheva, Marina
- Bialkowska, 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
- Bruening, Thomas
- Burwinkel, Barbara
- Cai, Qiuyin
- Caldes, 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.
- Doerk, 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
- Garcia-Closas, Montserrat
- Garcia-Saenz, Jose A.
- Gaudet, Mia M.
- Giles, Graham G.
- Glendon, Gord
- Godwin, Andrew K.
- Goldberg, Mark S.
- Goldgar, David E.
- Gonzalez-Neira, Anna
- Greene, Mark H.
- Gronwald, Jacek
- Guenel, 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
- Konstantopoulou, Irene
- Kristensen, Vessela N.
- Laitman, Yael
- Lambrechts, Diether
- Lazaro, Conxi
- Leroux, Dominique
- Leslie, Goska
- Lester, Jenny
- Lesueur, Fabienne
- Lindor, Noralane
- Lindstrom, Sara
- Lo, Wing-Yee
- Loud, Jennifer T.
- Lubinski, 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
- Olsson, Hakan
- 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
- Pylkas, 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
- Teule, Alex
- Thomassen, Mads
- Thoene, Kathrin
- Thull, Darcy L.
- Tischkowitz, Marc
- Toland, Amanda E.
- Tollenaar, Rob A. E. M.
- Torres, Diana
- Truong, Therese
- Tung, Nadine
- Vachon, Celine M.
- Asperen, Christi J. van
- Ouweland, Ans M. W. van den
- Rensburg, Elizabeth J. van
- 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
- Google Scholar
- Feng, Helian
- Gusev, Alexander
- Pasaniuc, Bogdan
- Wu, Lang
- Long, Jirong
- Abu-full, Zomoroda
- Aittomaki, 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
- Balmana, Judith
- Barkardottir, Rosa B.
- Barnes, Daniel R.
- Barrowdale, Daniel
- Beckmann, Matthias W.
- Behrens, Sabine
- Benitez, Javier
- Bermisheva, Marina
- Bialkowska, 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
- Bruening, Thomas
- Burwinkel, Barbara
- Cai, Qiuyin
- Caldes, 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.
- Doerk, 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
- Garcia-Closas, Montserrat
- Garcia-Saenz, Jose A.
- Gaudet, Mia M.
- Giles, Graham G.
- Glendon, Gord
- Godwin, Andrew K.
- Goldberg, Mark S.
- Goldgar, David E.
- Gonzalez-Neira, Anna
- Greene, Mark H.
- Gronwald, Jacek
- Guenel, 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
- Konstantopoulou, Irene
- Kristensen, Vessela N.
- Laitman, Yael
- Lambrechts, Diether
- Lazaro, Conxi
- Leroux, Dominique
- Leslie, Goska
- Lester, Jenny
- Lesueur, Fabienne
- Lindor, Noralane
- Lindstrom, Sara
- Lo, Wing-Yee
- Loud, Jennifer T.
- Lubinski, 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
- Olsson, Hakan
- 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
- Pylkas, 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
- Teule, Alex
- Thomassen, Mads
- Thoene, Kathrin
- Thull, Darcy L.
- Tischkowitz, Marc
- Toland, Amanda E.
- Tollenaar, Rob A. E. M.
- Torres, Diana
- Truong, Therese
- Tung, Nadine
- Vachon, Celine M.
- Asperen, Christi J. van
- Ouweland, Ans M. W. van den
- Rensburg, Elizabeth J. van
- 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