Identification of Novel Genetic Markers of Breast Cancer Survival
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Author
Guo, Qi
Schmidt, Marjanka K.
Canisius, Sander
Chen, Constance
Khan, Sofia
Tyrer, Jonathan
Bolla, Manjeet K.
Wang, Qin
Dennis, Joe
Michailidou, Kyriaki
Lush, Michael
Kar, Siddhartha
Beesley, Jonathan
Dunning, Alison M.
Shah, Mitul
Czene, Kamila
Darabi, Hatef
Eriksson, Mikael
Lambrechts, Diether
Weltens, Caroline
Leunen, Karin
Bojesen, Stig E.
Nordestgaard, Børge G.
Nielsen, Sune F.
Flyger, Henrik
Chang-Claude, Jenny
Rudolph, Anja
Seibold, Petra
Flesch-Janys, Dieter
Blomqvist, Carl
Aittomäki, Kristiina
Fagerholm, Rainer
Muranen, Taru A.
Couch, Fergus J.
Olson, Janet E.
Vachon, Celine
Andrulis, Irene L.
Knight, Julia A.
Glendon, Gord
Mulligan, Anna Marie
Broeks, Annegien
Hogervorst, Frans B.
Haiman, Christopher A.
Henderson, Brian E.
Schumacher, Fredrick
Le Marchand, Loic
Hopper, John L.
Tsimiklis, Helen
Apicella, Carmel
Southey, Melissa C.
Cox, Angela
Cross, Simon S.
Reed, Malcolm W. R.
Giles, Graham G.
Milne, Roger L.
McLean, Catriona
Winqvist, Robert
Pylkäs, Katri
Jukkola-Vuorinen, Arja
Grip, Mervi
Hooning, Maartje J.
Hollestelle, Antoinette
Martens, John W. M.
van den Ouweland, Ans M. W.
Marme, Federik
Schneeweiss, Andreas
Yang, Rongxi
Burwinkel, Barbara
Figueroa, Jonine
Chanock, Stephen J.
Lissowska, Jolanta
Sawyer, Elinor J.
Tomlinson, Ian
Kerin, Michael J.
Miller, Nicola
Brenner, Hermann
Dieffenbach, Aida Karina
Arndt, Volker
Holleczek, Bernd
Mannermaa, Arto
Kataja, Vesa
Kosma, Veli-Matti
Hartikainen, Jaana M.
Li, Jingmei
Brand, Judith S.
Humphreys, Keith
Devilee, Peter
Tollenaar, Rob A. E. M.
Seynaeve, Caroline
Radice, Paolo
Peterlongo, Paolo
Bonanni, Bernardo
Mariani, Paolo
Fasching, Peter A.
Beckmann, Matthias W.
Hein, Alexander
Ekici, Arif B.
Chenevix-Trench, Georgia
Balleine, Rosemary
Phillips, Kelly-Anne
Benitez, Javier
Zamora, M. Pilar
Arias Perez, Jose Ignacio
Menéndez, Primitiva
Jakubowska, Anna
Lubinski, Jan
Jaworska-Bieniek, Katarzyna
Durda, Katarzyna
Hamann, Ute
Kabisch, Maria
Ulmer, Hans Ulrich
Rüdiger, Thomas
Margolin, Sara
Kristensen, Vessela
Nord, Silje
Evans, D. Gareth
Abraham, Jean E.
Earl, Helena M.
Hiller, Louise
Dunn, Janet A.
Bowden, Sarah
Berg, Christine
Campa, Daniele
Diver, W. Ryan
Gapstur, Susan M.
Gaudet, Mia M.
Hoover, Robert N.
Hüsing, Anika
Kaaks, Rudolf
Machiela, Mitchell J.
Barrdahl, Myrto
Canzian, Federico
Chin, Suet-Feung
Caldas, Carlos
Lindstrom, Sara
García-Closas, Montserrat
Hall, Per
Easton, Douglas F.
Eccles, Diana M.
Rahman, Nazneen
Nevanlinna, Heli
Pharoah, Paul D. P.
Note: Order does not necessarily reflect citation order of authors.
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https://doi.org/10.1093/jnci/djv081Metadata
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Guo, Q., M. K. Schmidt, P. Kraft, S. Canisius, C. Chen, S. Khan, J. Tyrer, et al. 2015. “Identification of Novel Genetic Markers of Breast Cancer Survival.” JNCI Journal of the National Cancer Institute 107 (5): djv081. doi:10.1093/jnci/djv081. http://dx.doi.org/10.1093/jnci/djv081.Abstract
Background: Survival after a diagnosis of breast cancer varies considerably between patients, and some of this variation may be because of germline genetic variation. We aimed to identify genetic markers associated with breast cancer–specific survival. Methods: We conducted a large meta-analysis of studies in populations of European ancestry, including 37954 patients with 2900 deaths from breast cancer. Each study had been genotyped for between 200000 and 900000 single nucleotide polymorphisms (SNPs) across the genome; genotypes for nine million common variants were imputed using a common reference panel from the 1000 Genomes Project. We also carried out subtype-specific analyses based on 6881 estrogen receptor (ER)–negative patients (920 events) and 23059 ER-positive patients (1333 events). All statistical tests were two-sided. Results: We identified one new locus (rs2059614 at 11q24.2) associated with survival in ER-negative breast cancer cases (hazard ratio [HR] = 1.95, 95% confidence interval [CI] = 1.55 to 2.47, P = 1.91 x 10–8). Genotyping a subset of 2113 case patients, of which 300 were ER negative, provided supporting evidence for the quality of the imputation. The association in this set of case patients was stronger for the observed genotypes than for the imputed genotypes. A second locus (rs148760487 at 2q24.2) was associated at genome-wide statistical significance in initial analyses; the association was similar in ER-positive and ER-negative case patients. Here the results of genotyping suggested that the finding was less robust. Conclusions: This is currently the largest study investigating genetic variation associated with breast cancer survival. Our results have potential clinical implications, as they confirm that germline genotype can provide prognostic information in addition to standard tumor prognostic factors.Other Sources
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4555642/pdf/Terms of Use
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