Display options
Cite
Feng H, Gusev A, Pasaniuc B, et al. Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. Genet Epidemiol. 2020;44(5):442-468doi: 10.1002/gepi.22288.
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., Barnes, D. R., Barrowdale, D., Beckmann, M. W., Behrens, S., Benitez, J., Bermisheva, M., Białkowska, K., Blanco, A., Blomqvist, C., Boeckx, B., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Bonanni, B., Borg, A., Brauch, H., Brenner, H., Briceno, I., Broeks, A., Brüning, T., Burwinkel, B., Cai, Q., Caldés, T., Caligo, M. A., Campbell, I., Canisius, S., Campa, D., Carter, B. D., Carter, J., Castelao, J. E., Chang-Claude, J., Chanock, S. J., Christiansen, H., Chung, W. K., Claes, K. B. M., Clarke, C. L., Couch, F. J., Cox, A., Cross, S. S., Cybulski, C., Czene, K., Daly, M. B., de la Hoya, M., De Leeneer, K., Dennis, J., Devilee, P., Diez, O., Domchek, S. M., Dörk, T., Dos-Santos-Silva, I., Dunning, A. M., Dwek, M., Eccles, D. M., Ejlertsen, B., Ellberg, C., Engel, C., Eriksson, M., Fasching, P. A., Fletcher, O., Flyger, H., Fostira, F., Friedman, E., Fritschi, L., Frost, D., Gabrielson, M., Ganz, P. A., Gapstur, S. M., Garber, J., García-Closas, M., García-Sáenz, J. A., Gaudet, M. M., Giles, G. G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Greene, M. H., Gronwald, J., Guénel, P., Haiman, C. A., Hall, P., Hamann, U., Hake, C., He, W., Heyworth, J., Hogervorst, F. B. L., Hollestelle, A., Hooning, M. J., Hoover, R. N., Hopper, J. L., Huang, G., Hulick, P. J., Humphreys, K., Imyanitov, E. N., Isaacs, C., Jakimovska, M., Jakubowska, A., James, P., Janavicius, R., Jankowitz, R. C., John, E. M., Johnson, N., Joseph, V., Jung, A., Karlan, B. Y., Khusnutdinova, E., Kiiski, J. I., Konstantopoulou, I., Kristensen, V. N., Laitman, Y., Lambrechts, D., Lazaro, C., Leroux, D., Leslie, G., Lester, J., Lesueur, F., Lindor, N., Lindström, S., Lo, W. Y., Loud, J. T., Lubiński, J., Makalic, E., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Martens, J. W. M., Martinez, M. E., Matricardi, L., Maurer, T., Mavroudis, D., McGuffog, L., Meindl, A., Menon, U., Michailidou, K., Kapoor, P. M., Miller, A., Montagna, M., Moreno, F., Moserle, L., Mulligan, A. M., Muranen, T. A., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nevelsteen, I., Nielsen, F. C., Nikitina-Zake, L., Offit, K., Olah, E., Olopade, O. I., Olsson, H., Osorio, A., Papp, J., Park-Simon, T. W., Parsons, M. T., Pedersen, I. S., Peixoto, A., Peterlongo, P., Peto, J., Pharoah, P. D. P., Phillips, K. A., Plaseska-Karanfilska, D., Poppe, B., Pradhan, N., Prajzendanc, K., Presneau, N., Punie, K., Pylkäs, K., Radice, P., Rantala, J., Rashid, M. U., Rennert, G., Risch, H. A., Robson, M., Romero, A., Saloustros, E., Sandler, D. P., Santos, C., Sawyer, E. J., Schmidt, M. K., Schmidt, D. F., Schmutzler, R. K., Schoemaker, M. J., Scott, R. J., Sharma, P., Shu, X. O., Simard, J., Singer, C. F., Skytte, A. B., Soucy, P., Southey, M. C., Spinelli, J. J., Spurdle, A. B., Stone, J., Swerdlow, A. J., Tapper, W. J., Taylor, J. A., Teixeira, M. R., Terry, M. B., Teulé, A., Thomassen, M., Thöne, K., Thull, D. L., Tischkowitz, M., Toland, A. E., Tollenaar, R. A. E. M., Torres, D., Truong, T., Tung, N., Vachon, C. M., van Asperen, C. J., van den Ouweland, A. M. W., van Rensburg, E. J., Vega, A., Viel, A., Vieiro-Balo, P., Wang, Q., Wappenschmidt, B., Weinberg, C. R., Weitzel, J. N., Wendt, C., Winqvist, R., Yang, X. R., Yannoukakos, D., Ziogas, A., Milne, R. L., Easton, D. F., Chenevix-Trench, G., Zheng, W., Kraft, P., & Jiang, X. (2020). Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. Genetic epidemiology, 44(5), 442-468. https://doi.org/10.1002/gepi.22288
Feng, Helian, et al. "Transcriptome-wide association study of breast cancer risk by estrogen-receptor status." Genetic epidemiology vol. 44,5 (2020): 442-468. doi: https://doi.org/10.1002/gepi.22288
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, Beckmann MW, 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 WY, 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 TW, Parsons MT, Pedersen IS, Peixoto A, Peterlongo P, Peto J, Pharoah PDP, Phillips KA, 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 XO, Simard J, Singer CF, Skytte AB, 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. Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. Genet Epidemiol. 2020 Jul;44(5):442-468. doi: 10.1002/gepi.22288. Epub 2020 Mar 01. PMID: 32115800; PMCID: PMC7987299.
Copy Download .nbib Format: NLM
Share it on

Genet Epidemiol. 2020 Jul;44(5):442-468. doi: 10.1002/gepi.22288. Epub 2020 Mar 01.

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

Genetic epidemiology

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

Affiliations

  1. Program in Genetic Epidemiology and Statistical Genetics, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.
  2. Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.
  3. Department of Biostatistics, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.
  4. Dana-Farber Cancer Institute, Boston, Massachusetts.
  5. UCLA Path & Lab Med, Los Angeles, California.
  6. Epidemiology Program, University of Hawaii Cancer Center, Honolulu, Hawaii.
  7. Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee.
  8. Clalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel.
  9. Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
  10. Fred A, Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
  11. Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  12. Department of Epidemiology, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, California.
  13. Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  14. Department of Pathology, Landspitali University Hospital, Reykjavik, Iceland.
  15. BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
  16. Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  17. Department of Public Health Sciences, and Cancer Research Institute, Queen's University, Kingston, Ontario, Canada.
  18. Department of Breast Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, Texas.
  19. Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
  20. Cancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, Washington.
  21. Zilber School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, Wisconsin.
  22. Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy.
  23. High Risk and Cancer Prevention Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.
  24. Department of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.
  25. Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  26. Centro de Investigaci-n en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
  27. Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
  28. Institute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia.
  29. Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
  30. Fundaci-n Pœblica Galega Medicina Xen-mica, Santiago De Compostela, Spain.
  31. Instituto de Investigacion Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain.
  32. Department of Oncology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
  33. Department of Oncology, University Hospital, Karolinska Institute, Stockholm, Sweden.
  34. VIB Center for Cancer Biology, VIB, Leuven, Belgium.
  35. Laboratory for Translational Genetics, Department of Human Genetics, University of Leuven, Leuven, Belgium.
  36. Department of Radiation Oncology, Hannover Medical School, Hannover, Germany.
  37. Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.
  38. NN Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus.
  39. Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
  40. Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
  41. Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
  42. Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan, Italy.
  43. Department of Oncology, Lund University and Skåne University Hospital, Lund, Sweden.
  44. Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
  45. iFIT-Cluster of Excellence, University of Tuebingen, Tuebingen, Germany.
  46. German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.
  47. Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany.
  48. Institute of Human Genetics, Pontificia Universidad Javeriana, Bogota, Colombia.
  49. Medical Faculty, Universidad de La Sabana, Bogota, Colombia.
  50. Division of Molecular Pathology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
  51. Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum (IPA), Bochum, Germany.
  52. Molecular Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  53. Molecular Biology of Breast Cancer, University Womens Clinic Heidelberg, University of Heidelberg, Heidelberg, Germany.
  54. Medical Oncology Department, Hospital Cl'nico San Carlos, Instituto de Investigaci-n Sanitaria San Carlos (IdISSC), Centro Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.
  55. Section of Molecular Genetics, Dept, of Laboratory Medicine, University Hospital of Pisa, Pisa, Italy.
  56. Research Department, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia.
  57. Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia.
  58. Division of Molecular Carcinogenesis, The Netherlands Cancer Institute-Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands.
  59. Genomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  60. Behavioral and Epidemiology Research Group, American Cancer Society, Atlanta, Georgia.
  61. Department of Gynaecological Oncology, Chris OÕBrien Lifehouse and The University of Sydney, Camperdown, New South Wales, Australia.
  62. Oncology and Genetics Unit, Instituto de Investigacion Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS, Vigo, Spain.
  63. Cancer Epidemiology Group, University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  64. Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
  65. Departments of Pediatrics and Medicine, Columbia University, New York, New York.
  66. Centre for Medical Genetics, Ghent University, Gent, Belgium.
  67. Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
  68. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
  69. Department of Oncology and Metabolism, Sheffield Institute for Nucleic Acids (SInFoNiA), University of Sheffield, Sheffield, UK.
  70. Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK.
  71. Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
  72. Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania.
  73. Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
  74. Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  75. Hereditary Cancer Genetics Group, Area of Clinical and Molecular Genetics, Vall dHebron Institute of Oncology (VHIO), University Hospital Vall d'Hebron, Barcelona, Spain.
  76. Clinical and Molecular Genetics Area, University Hospital Vall dHebron, Barcelona, Spain.
  77. Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
  78. Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK.
  79. Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
  80. Department of Biomedical Sciences, Faculty of Science and Technology, University of Westminster, London, UK.
  81. Cancer Sciences Academic Unit, Faculty of Medicine, University of Southampton, Southampton, UK.
  82. Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  83. Department of Cancer Epidemiology, Clinical Sciences, Lund University, Lund, Sweden.
  84. Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
  85. LIFE - Leipzig Research Centre for Civilization Diseases, University of Leipzig, Leipzig, Germany.
  86. David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, University of California at Los Angeles, Los Angeles, California.
  87. The Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, UK.
  88. Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
  89. Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos?, Athens, Greece.
  90. The Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Ramat Gan, Israel.
  91. Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.
  92. School of Public Health, Curtin University, Perth, Western Australia, Australia.
  93. Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Jonsson Comprehensive Cancer Centre, UCLA, Los Angeles, California.
  94. Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, Massachusetts.
  95. Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
  96. Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.
  97. Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
  98. Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, Victoria, Australia.
  99. Department of Pathology and Laboratory Medicine, Kansas University Medical Center, Kansas City, Kanas.
  100. Department of Medicine, McGill University, Montreal, Quebec, Canada.
  101. Division of Clinical Epidemiology, Royal Victoria Hospital, McGill University, Montreal, Quebec, Canada.
  102. Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah.
  103. Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland.
  104. Cancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, Villejuif, France.
  105. Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California.
  106. Department of Oncology, Sšdersjukhuset, Stockholm, Sweden.
  107. Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  108. City of Hope Clinical Cancer Genetics Community Research Network, Duarte, California.
  109. School of Population and Global Health, The University of Western Australia, Perth, Western Australia, Australia.
  110. Family Cancer Clinic, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
  111. Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
  112. Center for Medical Genetics, NorthShore University HealthSystem, Evanston, Illinois.
  113. The University of Chicago Pritzker School of Medicine, Chicago, Illinois.
  114. NN Petrov Institute of Oncology, St. Petersburg, Russia.
  115. Lombardi Comprehensive Cancer Center, Georgetown University, Washington, District of Columbia.
  116. Research Centre for Genetic Engineering and Biotechnology 'Georgi D, Efremov', Macedonian Academy of Sciences and Arts, Skopje Republic of North Macedonia, North Macedonia.
  117. Independent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University, Szczecin, Poland.
  118. Parkville Familial Cancer Centre, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia.
  119. State Research Institute Innovative Medicine Center, Vilnius, Lithuania.
  120. Department of Medicine, Division of Hematology/Oncology, UPMC Hillman Cancer Center, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
  121. Department of Medicine, Division of Oncology, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, California.
  122. Clinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, New York.
  123. David Geffen School of Medicine, Department of Obstetrics and Gynecology, University of California, Los Angeles, California.
  124. Department of Genetics and Fundamental Medicine, Bashkir State Medical University, Ufa, Russia.
  125. Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
  126. Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital-Radiumhospitalet, Oslo, Norway.
  127. Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
  128. Molecular Diagnostic Unit, Hereditary Cancer Program, ICO-IDIBELL (Bellvitge Biomedical Research Institute, Catalan Institute of Oncology), CIBERONC, Barcelona, Spain.
  129. Departement de Ge netique, CHU de Grenoble, Grenoble, France.
  130. Institut Curie, Paris, France.
  131. Mines ParisTech, Fontainebleau, France.
  132. Genetic Epidemiology of Cancer Team, Inserm U900, Paris, France.
  133. Department of Health Sciences Research, Mayo Clinic, Scottsdale, Arizona.
  134. Department of Epidemiology, University of Washington School of Public Health, Seattle, Washington.
  135. Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington.
  136. Translational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.
  137. Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland.
  138. Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland.
  139. Department of Clinical Science and Education, Sšdersjukhuset, Karolinska Institutet, Stockholm, Sweden.
  140. Moores Cancer Center, University of California San Diego, La Jolla, California.
  141. Department of Family Medicine and Public Health, University of California San Diego, La Jolla, California.
  142. Immunology and Molecular Oncology Unit, Veneto Institute of Oncology ÊIOV-IRCCS, Padua, Italy.
  143. Department of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.
  144. Department of Gynecology and Obstetrics, Ludwig Maximilian University of Munich, Munich, Germany.
  145. MRC Clinical Trials Unit at UCL, Institute of Clinical Trials & Methodology, University College London, London, UK.
  146. Department of Electron Microscopy/Molecular Pathology and The Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.
  147. Faculty of Medicine, University of Heidelberg, Heidelberg, Germany.
  148. NRG Oncology, Statistics and Data Management Center, Roswell Park Cancer Institute, Buffalo, New York.
  149. Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
  150. Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada.
  151. Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California.
  152. Leuven Multidisciplinary Breast Center, Department of Oncology, Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium.
  153. Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  154. Latvian Biomedical Research and Study Centre, Riga, Latvia.
  155. Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York.
  156. Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.
  157. Center for Clinical Cancer Genetics, The University of Chicago, Chicago, Illinois.
  158. Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
  159. Section of Molecular Diagnostics, Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark.
  160. Department of Genetics, Portuguese Oncology Institute, Porto, Portugal.
  161. Genome Diagnostics Program, IFOM-The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy.
  162. Department of Medicine Oncology, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
  163. Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland.
  164. Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre Oulu, Oulu, Finland.
  165. Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy.
  166. Clinical Genetics, Karolinska Institutet, Stockholm, Sweden.
  167. Department of Basic Sciences, Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan.
  168. Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, Connecticut.
  169. Medical Oncology Department, Hospital Universitario Puerta de Hierro, Madrid, Spain.
  170. Department of Oncology, University Hospital of Larissa, Larissa, Greece.
  171. Epidemiology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina.
  172. Research Oncology, GuyÕs Hospital, King's College London, London, UK.
  173. Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
  174. Faculty of Information Technology, Monash University, Melbourne, Victoria, Australia.
  175. Center for Hereditary Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
  176. Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
  177. Division of Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, New South Wales, Australia.
  178. Discipline of Medical Genetics, School of Biomedical Sciences and Pharmacy, Faculty of Health, University of Newcastle, Callaghan, New South Wales, Australia.
  179. Hunter Medical Research Institute, John Hunter Hospital, Newcastle, New South Wales, Australia.
  180. Department of Internal Medicine, Division of Medical Oncology, University of Kansas Medical Center, Westwood, Kanas.
  181. Genomics Center, Centre Hospitalier Universitaire de Quebec-Universite Laval, Research Center, Quebec City, Qubec, Canada.
  182. Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark.
  183. Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia.
  184. Department of Clinical Pathology, The University of Melbourne, Melbourne, Victoria, Australia.
  185. Population Oncology, BC Cancer, Vancouver, British of Columbia, Canada.
  186. School of Population and Public Health, University of British Columbia, Vancouver, British of Columbia, Canada.
  187. The Curtin UWA Centre for Genetic Origins of Health and Disease, Curtin University and University of Western Australia, Perth, Western Australia, Australia.
  188. Division of Breast Cancer Research, The Institute of Cancer Research, London, UK.
  189. Faculty of Medicine, University of Southampton, Southampton, UK.
  190. Epigenetic and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina.
  191. Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal.
  192. Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York.
  193. Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, CIBERONC, Barcelona, Spain.
  194. Department of Clinical Genetics, Odense University Hospital, Odence C, Denmark.
  195. Department of Medicine, Magee-Womens Hospital, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
  196. Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, Quebec, Canada.
  197. Department of Medical Genetics, University of Cambridge, Cambridge, UK.
  198. Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio.
  199. Department of Surgery, Leiden University Medical Center, Leiden, The Netherlands.
  200. Department of Medical Oncology, Beth Israel Deaconess Medical Center, Boston, Massachusetts.
  201. Department of Health Science Research, Division of Epidemiology, Mayo Clinic, Rochester, Minnesota.
  202. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  203. Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
  204. Department of Genetics, University of Pretoria, Arcadia, South Africa.
  205. Division of Functional Onco-genomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, Italy.
  206. Hospital Clínico Universitario (SERGAS), Universidad de Santiago de Compostela, CIMUS, Santiago de Compostela, España.
  207. Biostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, North Carolina.
  208. Clinical Cancer Genomics, City of Hope, Duarte, California.

PMID: 32115800 PMCID: PMC7987299 DOI: 10.1002/gepi.22288

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.

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

Keywords: GWAS; TWAS; breast cancer subtype; causal gene

References

  1. Nat Genet. 2013 Apr;45(4):392-8, 398e1-2 - PubMed
  2. J Natl Cancer Inst. 2015 Apr 08;107(5): - PubMed
  3. Eur J Hum Genet. 2009 Jul;17(7):855-6 - PubMed
  4. Cell. 2013 Nov 7;155(4):934-47 - PubMed
  5. Am J Hum Genet. 2011 Jan 7;88(1):76-82 - PubMed
  6. Cancer Res. 2010 Dec 1;70(23):9742-54 - PubMed
  7. Nat Genet. 2015 Sep;47(9):1091-8 - PubMed
  8. Science. 2015 May 8;348(6235):648-60 - PubMed
  9. Genet Epidemiol. 2005 Jul;29(1):1-11 - PubMed
  10. Nat Genet. 2019 Apr;51(4):675-682 - PubMed
  11. Nat Genet. 2016 Mar;48(3):245-52 - PubMed
  12. Nat Genet. 2006 Nov;38(11):1239-41 - PubMed
  13. Nat Genet. 2017 Dec;49(12):1767-1778 - PubMed
  14. Nat Genet. 2016 Oct;48(10):1279-83 - PubMed
  15. Cancer Epidemiol Biomarkers Prev. 2017 Jan;26(1):126-135 - PubMed
  16. Genet Epidemiol. 2012 Apr;36(3):274-91 - PubMed
  17. Mol Oncol. 2010 Jun;4(3):174-91 - PubMed
  18. Nat Genet. 2014 Aug;46(8):886-90 - PubMed
  19. Nat Genet. 2018 Jul;50(7):968-978 - PubMed
  20. PLoS Genet. 2017 Sep 28;13(9):e1006727 - PubMed
  21. Bioinformatics. 2014 Oct 15;30(20):2906-14 - PubMed
  22. Nat Genet. 2016 Apr;48(4):374-86 - PubMed
  23. Nat Genet. 2015 Apr;47(4):373-80 - PubMed
  24. PLoS Comput Biol. 2008 Mar 21;4(3):e1000032 - PubMed
  25. PLoS Med. 2010 May 25;7(5):e1000279 - PubMed
  26. Sci Rep. 2016 Sep 07;6:32512 - PubMed
  27. PLoS Genet. 2009 Jun;5(6):e1000529 - PubMed
  28. Breast Cancer Res Treat. 2013 Jul;140(2):427-34 - PubMed
  29. Am J Hum Genet. 2017 Mar 2;100(3):473-487 - PubMed
  30. Nat Genet. 2007 Mar;39(3):352-8 - PubMed
  31. Hum Mol Genet. 2015 Jan 1;24(1):285-98 - PubMed
  32. Nature. 2007 Jun 28;447(7148):1087-93 - PubMed
  33. Nat Commun. 2019 Apr 15;10(1):1741 - PubMed
  34. Nat Genet. 2019 Apr;51(4):592-599 - PubMed
  35. Nature. 2012 Sep 6;489(7414):57-74 - PubMed
  36. Genet Epidemiol. 2018 Jul;42(5):418-433 - PubMed
  37. Oncogene. 2014 May 15;33(20):2610-9 - PubMed
  38. Breast Cancer Res Treat. 2010 Jan;119(1):201-11 - PubMed
  39. Hered Cancer Clin Pract. 2013 Sep 11;11(1):12 - PubMed
  40. Bioinformatics. 2010 Sep 1;26(17):2190-1 - PubMed
  41. Nature. 2017 Nov 2;551(7678):92-94 - PubMed
  42. CA Cancer J Clin. 2018 Nov;68(6):394-424 - PubMed
  43. J Natl Cancer Inst. 2011 Feb 2;103(3):250-63 - PubMed
  44. Nat Genet. 2010 Jul;42(7):565-9 - PubMed
  45. Nat Methods. 2011 Dec 04;9(2):179-81 - PubMed
  46. PLoS Genet. 2010 Apr 01;6(4):e1000888 - PubMed
  47. J Clin Oncol. 2008 Sep 10;26(26):4282-8 - PubMed
  48. Breast. 2013 Aug;22 Suppl 2:S48-9 - PubMed
  49. PLoS Genet. 2017 Mar 31;13(3):e1006690 - PubMed
  50. Nat Genet. 2010 Jun;42(6):504-7 - PubMed

Substances

MeSH terms

Publication Types

Grant support