Genome-wide association study of germline variants and breast cancer-specific mortality
dc.date.accessioned | 2020-05-09T18:49:35Z | |
dc.date.available | 2020-05-09T18:49:35Z | |
dc.date.created | 2019-09-22T13:01:18Z | |
dc.date.issued | 2019 | |
dc.identifier.citation | Escala-Garcia, Maria Guo, Qi Dörk, Thilo Canisius, Sander Keeman, Renske Dennis, Joe Beesley, Jonathan Lecarpentier, Julie Bolla, Manjeet K. Wang, Qin Abraham, Jean Andrulis, Irene L. Anton-Culver, Hoda Arndt, Volker Auer, Paul L. Beckmann, Matthias W. Behrens, Sabine Benitez, Javier Bermisheva, Marina Bernstein, Leslie Blomqvist, Carl Boeckx, Bram Bojesen, Stig E. Bonanni, Bernardo Børresen-Dale, Anne-Lise Brauch, Hiltrud Brenner, Hermann Brentnall, Adam Brinton, Louise Broberg, Per Brock, Ian W. Brucker, Sara Y. Burwinkel, Barbara Caldas, Carlos Caldés, Trinidad Campa, Daniele Canzian, Federico Carracedo, Angel Carter, Brian D. Castelao, Jose E. Chang-Claude, Jenny Chanock, Stephen J. Chenevix-Trench, Georgia Cheng, Ting-Yuan David Chin, Suet-Feung Clarke, Christine L. Cordina-Duverger, Emilie Couch, Fergus J. Cox, David G. Cox, Angela Cross, Simon S. Czene, Kamila Daly, Mary B. Devilee, Peter Dunn, Janet A. Dunning, Alison M. Durcan, Lorraine Dwek, Miriam Earl, Helena M. Ekici, Arif B. Eliassen, A. Heather Ellberg, Carolina Engel, Christoph Eriksson, Mikael Evans, D. Gareth Figueroa, Jonine Flesch-Janys, Dieter Flyger, Henrik Gabrielson, Marike Gago-Dominguez, Manuela Galle, Eva Gapstur, Susan M. García-Closas, Montserrat García-Sáenz, José A. Gaudet, Mia M. George, Angela Georgoulias, Vassilios Giles, Graham G. Glendon, Gord Goldgar, David E. Gonzalez-Neira, Anna Grenaker, Grethe Irene Grip, Mervi Guénel, Pascal Haeberle, Lothar Hahnen, Eric Haiman, Christopher A. Håkansson, Niclas Hall, Per Hamann, Ute Hankinson, Susan Harkness, Elaine F. Harrington, Patricia A. Hart, Steven N. Hartikainen, Jaana M. Hein, Alexander Hillemanns, Peter Hiller, Louise Holleczek, Bernd Hollestelle, Antoinette Hooning, Maartje J. Hoover, Robert N. Hopper, John L. Howell, Anthony Huang, Guanmengqian Humphreys, Keith Hunter, David J. Janni, Wolfgang John, Esther M. Jones, Michael E. Jukkola-Vuorinen, Arja Jung, Audrey Kaaks, Rudolf Kabisch, Maria Kaczmarek, Katarzyna Kerin, Michael J. Khan, Sofia Khusnutdinova, Elza Kiiski, Johanna I. Kitahara, Cari M. Knight, Julia A. Ko, Yon-Dschun Koppert, Linetta B. Kosma, Veli-Matti Kraft, Peter Kristensen, Vessela N. Krüger, Ute Kuhl, Tabea Lambrechts, Diether Le Marchand, Loic Lee, Eunjung Lejbkowicz, Flavio Li, Lian Lindblom, Annika Lindström, Sara Linet, Martha Lissowska, Jolanta Lo, Wing-Yee Loibl, Sibylle Lubiński, Jan Lux, Michael P. MacInnis, Robert J. Maierthaler, Melanie Maishman, Tom Makalic, Enes Mannermaa, Arto Manoochehri, Mehdi Manoukian, Siranoush Margolin, Sara Martinez, Maria Elena Mavroudis, Dimitrios McLean, Catriona Meindl, Alfons Middha, Pooja Miller, Nicola Milne, Roger L. Moreno, Fernando Mulligan, Anna Marie Mulot, Claire Nassir, Rami Neuhausen, Susan L. Newman, William T. Nielsen, Sune F. Nordestgaard, Børge G. Norman, Aaron Olsson, Håkan Orr, Nick Pankratz, V. Shane Park-Simon, Tjoung-Won Pérez, Jose I.A. Pérez-Barrios, Clara Peterlongo, Paolo Petridis, Christos Pinchev, Mila Prajzendanc, Karoliona Prentice, Ross Presneau, Nadege Prokofieva, Darya Pylkäs, Katri Rack, Brigitte Radice, Paolo Ramachandran, Dhanya Rennert, Gadi Rennert, Hedy S. Rhenius, Valerie Romero, Atocha Roylance, Rebecca Saloustros, Emmanouil Sawyer, Elinor J. Schmidt, Daniel F. Schmutzler, Rita K. Schneeweiss, Andreas Schoemaker, Minouk J. Schumacher, Fredrick Schwentner, Lukas Scott, Rodney J. Scott, Christopher Seynaeve, Caroline Shah, Mitul Simard, Jacques Smeets, Ann Sohn, Christof Southey, Melissa C. Swerdlow, Anthony J. Talhouk, Aline Tamimi, Rulla M. Tapper, William J. Teixeira, Manuel R. Tengström, Maria Terry, Mary Beth Thöne, Kathrin Tollenaar, Rob A.E.M. Tomlinson, Ian Torres, Diana Truong, Thérèse Turman, Constance Turnbull, Clare Ulmer, Hans-Ulrich Untch, Michael Vachon, Celine van Asperen, Christi J. van den Ouweland, Ans M.W. van Veen, Elke M. Wendt, Camilla Whittemore, Alice S. Willett, Walter Winqvist, Robert Wolk, Alicja Yang, Xiaohong R. Zhang, Yan Easton, Douglas F. Fasching, Peter A. Nevanlinna, Heli Eccles, Diana M. Pharoah, Paul D.P. Schmidt, Marjanka K. . Genome-wide association study of germline variants and breast cancer-specific mortality. British Journal of Cancer. 2019, 120(6), 647-657 | |
dc.identifier.uri | http://hdl.handle.net/10852/75325 | |
dc.description.abstract | Background We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. Methods Meta-analyses included summary estimates based on Cox models of twelve datasets using ~10.4 million variants for 96,661 women with breast cancer and 7697 events (breast cancer-specific deaths). Oestrogen receptor (ER)-specific analyses were based on 64,171 ER-positive (4116) and 16,172 ER-negative (2125) patients. We evaluated the probability of a signal to be a true positive using the Bayesian false discovery probability (BFDP). Results We did not find any variant associated with breast cancer-specific mortality at P < 5 × 10−8. For ER-positive disease, the most significantly associated variant was chr7:rs4717568 (BFDP = 7%, P = 1.28 × 10−7, hazard ratio [HR] = 0.88, 95% confidence interval [CI] = 0.84–0.92); the closest gene is AUTS2. For ER-negative disease, the most significant variant was chr7:rs67918676 (BFDP = 11%, P = 1.38 × 10−7, HR = 1.27, 95% CI = 1.16–1.39); located within a long intergenic non-coding RNA gene (AC004009.3), close to the HOXA gene cluster. Conclusions We uncovered germline variants on chromosome 7 at BFDP < 15% close to genes for which there is biological evidence related to breast cancer outcome. However, the paucity of variants associated with mortality at genome-wide significance underpins the challenge in providing genetic-based individualised prognostic information for breast cancer patients. | |
dc.language | EN | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | |
dc.title | Genome-wide association study of germline variants and breast cancer-specific mortality | |
dc.type | Journal article | |
dc.creator.author | Escala-Garcia, Maria | |
dc.creator.author | Guo, Qi | |
dc.creator.author | Dörk, Thilo | |
dc.creator.author | Canisius, Sander | |
dc.creator.author | Keeman, Renske | |
dc.creator.author | Dennis, Joe | |
dc.creator.author | Beesley, Jonathan | |
dc.creator.author | Lecarpentier, Julie | |
dc.creator.author | Bolla, Manjeet K. | |
dc.creator.author | Wang, Qin | |
dc.creator.author | Abraham, Jean | |
dc.creator.author | Andrulis, Irene L. | |
dc.creator.author | Anton-Culver, Hoda | |
dc.creator.author | Arndt, Volker | |
dc.creator.author | Auer, Paul L. | |
dc.creator.author | Beckmann, Matthias W. | |
dc.creator.author | Behrens, Sabine | |
dc.creator.author | Benitez, Javier | |
dc.creator.author | Bermisheva, Marina | |
dc.creator.author | Bernstein, Leslie | |
dc.creator.author | Blomqvist, Carl | |
dc.creator.author | Boeckx, Bram | |
dc.creator.author | Bojesen, Stig E. | |
dc.creator.author | Bonanni, Bernardo | |
dc.creator.author | Børresen-Dale, Anne-Lise | |
dc.creator.author | Brauch, Hiltrud | |
dc.creator.author | Brenner, Hermann | |
dc.creator.author | Brentnall, Adam | |
dc.creator.author | Brinton, Louise | |
dc.creator.author | Broberg, Per | |
dc.creator.author | Brock, Ian W. | |
dc.creator.author | Brucker, Sara Y. | |
dc.creator.author | Burwinkel, Barbara | |
dc.creator.author | Caldas, Carlos | |
dc.creator.author | Caldés, Trinidad | |
dc.creator.author | Campa, Daniele | |
dc.creator.author | Canzian, Federico | |
dc.creator.author | Carracedo, Angel | |
dc.creator.author | Carter, Brian D. | |
dc.creator.author | Castelao, Jose E. | |
dc.creator.author | Chang-Claude, Jenny | |
dc.creator.author | Chanock, Stephen J. | |
dc.creator.author | Chenevix-Trench, Georgia | |
dc.creator.author | Cheng, Ting-Yuan David | |
dc.creator.author | Chin, Suet-Feung | |
dc.creator.author | Clarke, Christine L. | |
dc.creator.author | Cordina-Duverger, Emilie | |
dc.creator.author | Couch, Fergus J. | |
dc.creator.author | Cox, David G. | |
dc.creator.author | Cox, Angela | |
dc.creator.author | Cross, Simon S. | |
dc.creator.author | Czene, Kamila | |
dc.creator.author | Daly, Mary B. | |
dc.creator.author | Devilee, Peter | |
dc.creator.author | Dunn, Janet A. | |
dc.creator.author | Dunning, Alison M. | |
dc.creator.author | Durcan, Lorraine | |
dc.creator.author | Dwek, Miriam | |
dc.creator.author | Earl, Helena M. | |
dc.creator.author | Ekici, Arif B. | |
dc.creator.author | Eliassen, A. Heather | |
dc.creator.author | Ellberg, Carolina | |
dc.creator.author | Engel, Christoph | |
dc.creator.author | Eriksson, Mikael | |
dc.creator.author | Evans, D. Gareth | |
dc.creator.author | Figueroa, Jonine | |
dc.creator.author | Flesch-Janys, Dieter | |
dc.creator.author | Flyger, Henrik | |
dc.creator.author | Gabrielson, Marike | |
dc.creator.author | Gago-Dominguez, Manuela | |
dc.creator.author | Galle, Eva | |
dc.creator.author | Gapstur, Susan M. | |
dc.creator.author | García-Closas, Montserrat | |
dc.creator.author | García-Sáenz, José A. | |
dc.creator.author | Gaudet, Mia M. | |
dc.creator.author | George, Angela | |
dc.creator.author | Georgoulias, Vassilios | |
dc.creator.author | Giles, Graham G. | |
dc.creator.author | Glendon, Gord | |
dc.creator.author | Goldgar, David E. | |
dc.creator.author | Gonzalez-Neira, Anna | |
dc.creator.author | Grenaker, Grethe Irene | |
dc.creator.author | Grip, Mervi | |
dc.creator.author | Guénel, Pascal | |
dc.creator.author | Haeberle, Lothar | |
dc.creator.author | Hahnen, Eric | |
dc.creator.author | Haiman, Christopher A. | |
dc.creator.author | Håkansson, Niclas | |
dc.creator.author | Hall, Per | |
dc.creator.author | Hamann, Ute | |
dc.creator.author | Hankinson, Susan | |
dc.creator.author | Harkness, Elaine F. | |
dc.creator.author | Harrington, Patricia A. | |
dc.creator.author | Hart, Steven N. | |
dc.creator.author | Hartikainen, Jaana M. | |
dc.creator.author | Hein, Alexander | |
dc.creator.author | Hillemanns, Peter | |
dc.creator.author | Hiller, Louise | |
dc.creator.author | Holleczek, Bernd | |
dc.creator.author | Hollestelle, Antoinette | |
dc.creator.author | Hooning, Maartje J. | |
dc.creator.author | Hoover, Robert N. | |
dc.creator.author | Hopper, John L. | |
dc.creator.author | Howell, Anthony | |
dc.creator.author | Huang, Guanmengqian | |
dc.creator.author | Humphreys, Keith | |
dc.creator.author | Hunter, David J. | |
dc.creator.author | Janni, Wolfgang | |
dc.creator.author | John, Esther M. | |
dc.creator.author | Jones, Michael E. | |
dc.creator.author | Jukkola-Vuorinen, Arja | |
dc.creator.author | Jung, Audrey | |
dc.creator.author | Kaaks, Rudolf | |
dc.creator.author | Kabisch, Maria | |
dc.creator.author | Kaczmarek, Katarzyna | |
dc.creator.author | Kerin, Michael J. | |
dc.creator.author | Khan, Sofia | |
dc.creator.author | Khusnutdinova, Elza | |
dc.creator.author | Kiiski, Johanna I. | |
dc.creator.author | Kitahara, Cari M. | |
dc.creator.author | Knight, Julia A. | |
dc.creator.author | Ko, Yon-Dschun | |
dc.creator.author | Koppert, Linetta B. | |
dc.creator.author | Kosma, Veli-Matti | |
dc.creator.author | Kraft, Peter | |
dc.creator.author | Kristensen, Vessela N. | |
dc.creator.author | Krüger, Ute | |
dc.creator.author | Kuhl, Tabea | |
dc.creator.author | Lambrechts, Diether | |
dc.creator.author | Le Marchand, Loic | |
dc.creator.author | Lee, Eunjung | |
dc.creator.author | Lejbkowicz, Flavio | |
dc.creator.author | Li, Lian | |
dc.creator.author | Lindblom, Annika | |
dc.creator.author | Lindström, Sara | |
dc.creator.author | Linet, Martha | |
dc.creator.author | Lissowska, Jolanta | |
dc.creator.author | Lo, Wing-Yee | |
dc.creator.author | Loibl, Sibylle | |
dc.creator.author | Lubiński, Jan | |
dc.creator.author | Lux, Michael P. | |
dc.creator.author | MacInnis, Robert J. | |
dc.creator.author | Maierthaler, Melanie | |
dc.creator.author | Maishman, Tom | |
dc.creator.author | Makalic, Enes | |
dc.creator.author | Mannermaa, Arto | |
dc.creator.author | Manoochehri, Mehdi | |
dc.creator.author | Manoukian, Siranoush | |
dc.creator.author | Margolin, Sara | |
dc.creator.author | Martinez, Maria Elena | |
dc.creator.author | Mavroudis, Dimitrios | |
dc.creator.author | McLean, Catriona | |
dc.creator.author | Meindl, Alfons | |
dc.creator.author | Middha, Pooja | |
dc.creator.author | Miller, Nicola | |
dc.creator.author | Milne, Roger L. | |
dc.creator.author | Moreno, Fernando | |
dc.creator.author | Mulligan, Anna Marie | |
dc.creator.author | Mulot, Claire | |
dc.creator.author | Nassir, Rami | |
dc.creator.author | Neuhausen, Susan L. | |
dc.creator.author | Newman, William T. | |
dc.creator.author | Nielsen, Sune F. | |
dc.creator.author | Nordestgaard, Børge G. | |
dc.creator.author | Norman, Aaron | |
dc.creator.author | Olsson, Håkan | |
dc.creator.author | Orr, Nick | |
dc.creator.author | Pankratz, V. Shane | |
dc.creator.author | Park-Simon, Tjoung-Won | |
dc.creator.author | Pérez, Jose I.A. | |
dc.creator.author | Pérez-Barrios, Clara | |
dc.creator.author | Peterlongo, Paolo | |
dc.creator.author | Petridis, Christos | |
dc.creator.author | Pinchev, Mila | |
dc.creator.author | Prajzendanc, Karoliona | |
dc.creator.author | Prentice, Ross | |
dc.creator.author | Presneau, Nadege | |
dc.creator.author | Prokofieva, Darya | |
dc.creator.author | Pylkäs, Katri | |
dc.creator.author | Rack, Brigitte | |
dc.creator.author | Radice, Paolo | |
dc.creator.author | Ramachandran, Dhanya | |
dc.creator.author | Rennert, Gadi | |
dc.creator.author | Rennert, Hedy S. | |
dc.creator.author | Rhenius, Valerie | |
dc.creator.author | Romero, Atocha | |
dc.creator.author | Roylance, Rebecca | |
dc.creator.author | Saloustros, Emmanouil | |
dc.creator.author | Sawyer, Elinor J. | |
dc.creator.author | Schmidt, Daniel F. | |
dc.creator.author | Schmutzler, Rita K. | |
dc.creator.author | Schneeweiss, Andreas | |
dc.creator.author | Schoemaker, Minouk J. | |
dc.creator.author | Schumacher, Fredrick | |
dc.creator.author | Schwentner, Lukas | |
dc.creator.author | Scott, Rodney J. | |
dc.creator.author | Scott, Christopher | |
dc.creator.author | Seynaeve, Caroline | |
dc.creator.author | Shah, Mitul | |
dc.creator.author | Simard, Jacques | |
dc.creator.author | Smeets, Ann | |
dc.creator.author | Sohn, Christof | |
dc.creator.author | Southey, Melissa C. | |
dc.creator.author | Swerdlow, Anthony J. | |
dc.creator.author | Talhouk, Aline | |
dc.creator.author | Tamimi, Rulla M. | |
dc.creator.author | Tapper, William J. | |
dc.creator.author | Teixeira, Manuel R. | |
dc.creator.author | Tengström, Maria | |
dc.creator.author | Terry, Mary Beth | |
dc.creator.author | Thöne, Kathrin | |
dc.creator.author | Tollenaar, Rob A.E.M. | |
dc.creator.author | Tomlinson, Ian | |
dc.creator.author | Torres, Diana | |
dc.creator.author | Truong, Thérèse | |
dc.creator.author | Turman, Constance | |
dc.creator.author | Turnbull, Clare | |
dc.creator.author | Ulmer, Hans-Ulrich | |
dc.creator.author | Untch, Michael | |
dc.creator.author | Vachon, Celine | |
dc.creator.author | van Asperen, Christi J. | |
dc.creator.author | van den Ouweland, Ans M.W. | |
dc.creator.author | van Veen, Elke M. | |
dc.creator.author | Wendt, Camilla | |
dc.creator.author | Whittemore, Alice S. | |
dc.creator.author | Willett, Walter | |
dc.creator.author | Winqvist, Robert | |
dc.creator.author | Wolk, Alicja | |
dc.creator.author | Yang, Xiaohong R. | |
dc.creator.author | Zhang, Yan | |
dc.creator.author | Easton, Douglas F. | |
dc.creator.author | Fasching, Peter A. | |
dc.creator.author | Nevanlinna, Heli | |
dc.creator.author | Eccles, Diana M. | |
dc.creator.author | Pharoah, Paul D.P. | |
dc.creator.author | Schmidt, Marjanka K. | |
cristin.unitcode | 185,53,49,12 | |
cristin.unitname | Institutt for kreftforskning | |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 2 | |
dc.identifier.cristin | 1727547 | |
dc.identifier.bibliographiccitation | info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=British Journal of Cancer&rft.volume=120&rft.spage=647&rft.date=2019 | |
dc.identifier.jtitle | British Journal of Cancer | |
dc.identifier.volume | 120 | |
dc.identifier.issue | 6 | |
dc.identifier.startpage | 647 | |
dc.identifier.endpage | 657 | |
dc.identifier.doi | https://doi.org/10.1038/s41416-019-0393-x | |
dc.identifier.urn | URN:NBN:no-78425 | |
dc.type.document | Tidsskriftartikkel | |
dc.type.peerreviewed | Peer reviewed | |
dc.source.issn | 0007-0920 | |
dc.identifier.fulltext | Fulltext https://www.duo.uio.no/bitstream/handle/10852/75325/2/Genome-wide%2Bassociation%2Bstudy%2Bof%2Bgermline%2Bvariants%2Bandbreast%2Bcancer-specific%2Bmortality.pdf | |
dc.type.version | PublishedVersion |
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