Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis
dc.date.accessioned | 2022-04-05T18:43:24Z | |
dc.date.available | 2022-04-05T18:43:24Z | |
dc.date.created | 2022-02-22T16:42:19Z | |
dc.date.issued | 2021 | |
dc.identifier.citation | Escala-Garcia, Maria Canisius, Sander Keeman, Renske Beesley, Jonathan Anton-Culver, Hoda Arndt, Volker Augustinsson, Annelie Becher, Heiko Beckmann, Matthias W. Behrens, Sabine Bermisheva, Marina Bojesen, Stig E. Bolla, Manjeet K. Brenner, Hermann Canzian, Federico Castelao, Jose E. Chang-Claude, Jenny Chanock, Stephen J. Couch, Fergus J. Czene, Kamila Daly, Mary B. Dennis, Joe Devilee, Peter Dörk, Thilo Dunning, Alison M. Easton, Douglas F. Ekici, Arif B. Eliassen, A. Heather Fasching, Peter A. Flyger, Henrik Gago-Dominguez, Manuela García-Closas, Montserrat García-Sáenz, José A. Geisler, Jürgen Giles, Graham G. Grip, Mervi Gündert, Melanie Hahnen, Eric Haiman, Christopher A. Håkansson, Niclas Hall, Per Hamann, Ute Hartikainen, JM Heemskerk-Gerritsen, Bernadette A. M. Hollestelle, Antoinette Hoppe, Reiner Hopper, John L. Hunter, David J. Jacot, William Jakubowska, Anna John, Esther M. Jung, Audrey Y. Kaaks, Rudolf Khusnutdinova, Elza Koppert, Linetta B. Kraft, Peter Kristensen, Vessela N. Kurian, Allison W. Lambrechts, Diether Le Marchand, Loic Lindblom, Annika Luben, Robert Lubinski, Jan Mannermaa, Arto Manoochehri, Mehdi Margolin, Sara Mavroudis, Dimitrios Muranen, TA Nevanlinna, Heli Olshan, Andrew F. Olsson, Håkan Park-Simon, Tjoung-Won Patel, Alpa V. Peterlongo, Paolo Pharoah, Paul D. P. Punie, Kevin Radice, Paolo Rennert, Gad Rennert, Hedy S. Romero, Atocha Roylance, Rebecca Rüdiger, Thomas Ruebner, Matthias Saloustros, Emmanouil Sawyer, Elinor J. Schmutzler, Rita K. Schoemaker, Minouk J. Scott, Christopher Southey, Melissa C. Surowy, Harald Swerdlow, Anthony Tamimi, Rulla M. Teras, Lauren R. Thomas, Emilie Tomlinson, Ian Troester, Melissa A. Vachon, Celine Wang, Qin Winqvist, Robert Wolk, Alicja Ziogas, Argyrios Michailidou, Kyriaki Chenevix-Trench, Georgia Bachelot, Thomas Schmidt, Marjanka K. . Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis. Scientific Reports. 2021, 11(1), 1-11 | |
dc.identifier.uri | http://hdl.handle.net/10852/93335 | |
dc.description.abstract | Abstract Breast cancer metastasis accounts for most of the deaths from breast cancer. Identification of germline variants associated with survival in aggressive types of breast cancer may inform understanding of breast cancer progression and assist treatment. In this analysis, we studied the associations between germline variants and breast cancer survival for patients with distant metastases at primary breast cancer diagnosis. We used data from the Breast Cancer Association Consortium (BCAC) including 1062 women of European ancestry with metastatic breast cancer, 606 of whom died of breast cancer. We identified two germline variants on chromosome 1, rs138569520 and rs146023652, significantly associated with breast cancer-specific survival (P = 3.19 × 10 −8 and 4.42 × 10 −8 ). In silico analysis suggested a potential regulatory effect of the variants on the nearby target genes SDE2 and H3F3A . However, the variants showed no evidence of association in a smaller replication dataset. The validation dataset was obtained from the SNPs to Risk of Metastasis (StoRM) study and included 293 patients with metastatic primary breast cancer at diagnosis. Ultimately, larger replication studies are needed to confirm the identified associations. | |
dc.language | EN | |
dc.publisher | Nature Portfolio | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | |
dc.title | Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis | |
dc.type | Journal article | |
dc.creator.author | Escala-Garcia, Maria | |
dc.creator.author | Canisius, Sander | |
dc.creator.author | Keeman, Renske | |
dc.creator.author | Beesley, Jonathan | |
dc.creator.author | Anton-Culver, Hoda | |
dc.creator.author | Arndt, Volker | |
dc.creator.author | Augustinsson, Annelie | |
dc.creator.author | Becher, Heiko | |
dc.creator.author | Beckmann, Matthias W. | |
dc.creator.author | Behrens, Sabine | |
dc.creator.author | Bermisheva, Marina | |
dc.creator.author | Bojesen, Stig E. | |
dc.creator.author | Bolla, Manjeet K. | |
dc.creator.author | Brenner, Hermann | |
dc.creator.author | Canzian, Federico | |
dc.creator.author | Castelao, Jose E. | |
dc.creator.author | Chang-Claude, Jenny | |
dc.creator.author | Chanock, Stephen J. | |
dc.creator.author | Couch, Fergus J. | |
dc.creator.author | Czene, Kamila | |
dc.creator.author | Daly, Mary B. | |
dc.creator.author | Dennis, Joe | |
dc.creator.author | Devilee, Peter | |
dc.creator.author | Dörk, Thilo | |
dc.creator.author | Dunning, Alison M. | |
dc.creator.author | Easton, Douglas F. | |
dc.creator.author | Ekici, Arif B. | |
dc.creator.author | Eliassen, A. Heather | |
dc.creator.author | Fasching, Peter A. | |
dc.creator.author | Flyger, Henrik | |
dc.creator.author | Gago-Dominguez, Manuela | |
dc.creator.author | García-Closas, Montserrat | |
dc.creator.author | García-Sáenz, José A. | |
dc.creator.author | Geisler, Jürgen | |
dc.creator.author | Giles, Graham G. | |
dc.creator.author | Grip, Mervi | |
dc.creator.author | Gündert, Melanie | |
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 | Hartikainen, JM | |
dc.creator.author | Heemskerk-Gerritsen, Bernadette A. M. | |
dc.creator.author | Hollestelle, Antoinette | |
dc.creator.author | Hoppe, Reiner | |
dc.creator.author | Hopper, John L. | |
dc.creator.author | Hunter, David J. | |
dc.creator.author | Jacot, William | |
dc.creator.author | Jakubowska, Anna | |
dc.creator.author | John, Esther M. | |
dc.creator.author | Jung, Audrey Y. | |
dc.creator.author | Kaaks, Rudolf | |
dc.creator.author | Khusnutdinova, Elza | |
dc.creator.author | Koppert, Linetta B. | |
dc.creator.author | Kraft, Peter | |
dc.creator.author | Kristensen, Vessela N. | |
dc.creator.author | Kurian, Allison W. | |
dc.creator.author | Lambrechts, Diether | |
dc.creator.author | Le Marchand, Loic | |
dc.creator.author | Lindblom, Annika | |
dc.creator.author | Luben, Robert | |
dc.creator.author | Lubinski, Jan | |
dc.creator.author | Mannermaa, Arto | |
dc.creator.author | Manoochehri, Mehdi | |
dc.creator.author | Margolin, Sara | |
dc.creator.author | Mavroudis, Dimitrios | |
dc.creator.author | Muranen, TA | |
dc.creator.author | Nevanlinna, Heli | |
dc.creator.author | Olshan, Andrew F. | |
dc.creator.author | Olsson, Håkan | |
dc.creator.author | Park-Simon, Tjoung-Won | |
dc.creator.author | Patel, Alpa V. | |
dc.creator.author | Peterlongo, Paolo | |
dc.creator.author | Pharoah, Paul D. P. | |
dc.creator.author | Punie, Kevin | |
dc.creator.author | Radice, Paolo | |
dc.creator.author | Rennert, Gad | |
dc.creator.author | Rennert, Hedy S. | |
dc.creator.author | Romero, Atocha | |
dc.creator.author | Roylance, Rebecca | |
dc.creator.author | Rüdiger, Thomas | |
dc.creator.author | Ruebner, Matthias | |
dc.creator.author | Saloustros, Emmanouil | |
dc.creator.author | Sawyer, Elinor J. | |
dc.creator.author | Schmutzler, Rita K. | |
dc.creator.author | Schoemaker, Minouk J. | |
dc.creator.author | Scott, Christopher | |
dc.creator.author | Southey, Melissa C. | |
dc.creator.author | Surowy, Harald | |
dc.creator.author | Swerdlow, Anthony | |
dc.creator.author | Tamimi, Rulla M. | |
dc.creator.author | Teras, Lauren R. | |
dc.creator.author | Thomas, Emilie | |
dc.creator.author | Tomlinson, Ian | |
dc.creator.author | Troester, Melissa A. | |
dc.creator.author | Vachon, Celine | |
dc.creator.author | Wang, Qin | |
dc.creator.author | Winqvist, Robert | |
dc.creator.author | Wolk, Alicja | |
dc.creator.author | Ziogas, Argyrios | |
dc.creator.author | Michailidou, Kyriaki | |
dc.creator.author | Chenevix-Trench, Georgia | |
dc.creator.author | Bachelot, Thomas | |
dc.creator.author | Schmidt, Marjanka K. | |
cristin.unitcode | 185,53,18,10 | |
cristin.unitname | Avdeling for medisinsk genetikk | |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 1 | |
dc.identifier.cristin | 2004616 | |
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=Scientific Reports&rft.volume=11&rft.spage=1&rft.date=2021 | |
dc.identifier.jtitle | Scientific Reports | |
dc.identifier.volume | 11 | |
dc.identifier.issue | 1 | |
dc.identifier.doi | https://doi.org/10.1038/s41598-021-99409-3 | |
dc.identifier.urn | URN:NBN:no-95927 | |
dc.type.document | Tidsskriftartikkel | |
dc.type.peerreviewed | Peer reviewed | |
dc.source.issn | 2045-2322 | |
dc.identifier.fulltext | Fulltext https://www.duo.uio.no/bitstream/handle/10852/93335/1/s41598-021-99409-3.pdf | |
dc.type.version | PublishedVersion | |
cristin.articleid | 19787 | |
dc.relation.project | NFR/193387 | |
dc.relation.project | HSØ/39346 |
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