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    Genome-wide association study of germline variants and breast cancer-specific mortality

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    Authors
    Escala-Garcia, M
    Guo, Q
    Dork, T
    Canisius, S
    Keeman, R
    Dennis, J
    Beesley, J
    Lecarpentier, J
    Bolla, K
    Wang, Q
    Abraham, J
    Andrulis, L
    Anton-Culver, H
    Arndt, V
    Auer, L
    Beckmann, W
    Behrens, S
    Benitez, J
    Bermisheva, M
    Bernstein, L
    Blomqvist, C
    Boeckx, B
    Bojesen, E
    Bonanni, B
    Borresen-Dale, L
    Brauch, H
    Brenner, H
    Brentnall, A
    Brinton, L
    Broberg, P
    Brock, W
    Brucker, Y
    Burwinkel, B
    Caldas, C
    Caldes, T
    Campa, D
    Canzian, F
    Carracedo, A
    Carter, D
    Castelao, E
    Chang-Claude, J
    Chanock, J
    Chenevix-Trench, G
    Cheng, D
    Chin, F
    Clarke, L
    Cordina-Duverger, E
    Couch, J
    Cox, G
    Cox, A
    Cross, S
    Czene, K
    Daly, B
    Devilee, P
    Dunn, A
    Dunning, M
    Durcan, L
    Dwek, M
    Earl, M
    Ekici, B
    Eliassen, H
    Ellberg, C
    Engel, C
    Eriksson, M
    Evans, G
    Figueroa, J
    Flesch-Janys, D
    Flyger, H
    Gabrielson, M
    Gago-Dominguez, M
    Galle, E
    Gapstur, M
    Garcia-Closas, M
    Garcia-Saenz, A
    Gaudet, M
    George, A
    Georgoulias, V
    Giles, G
    Glendon, G
    Goldgar, E
    Gonzalez-Neira, A
    Alnaes, G
    Grip, M
    Guenel, P
    Haeberle, L
    Hahnen, E
    Haiman, A
    Hakansson, N
    Hall, P
    Hamann, U
    Hankinson, S
    Harkness, F
    Harrington, A
    Hart, N
    Hartikainen, JM
    Hein, A
    Hillemanns, P
    Hiller, L
    Holleczek, B
    Hollestelle, A
    Hooning, J
    Hoover, N
    Hopper, L
    Howell, Anthony
    Huang, G
    Humphreys, K
    Hunter, J
    Janni, W
    John, M
    Jones, E
    Jukkola-Vuorinen, A
    Jung, A
    Kaaks, R
    Kabisch, M
    Kaczmarek, K
    Kerin, J
    Khan, S
    Khusnutdinova, E
    Kiiski, I
    Kitahara, M
    Knight, A
    Ko, D
    Koppert, B
    Kosma, M
    Kraft, P
    Kristensen, N
    Kruger, U
    Kuhl, T
    Lambrechts, D
    Le, L
    Lee, E
    Lejbkowicz, F
    Li, L
    Lindblom, A
    Lindstrom, S
    Linet, M
    Lissowska, J
    Lo, Y
    Loibl, S
    Lubinski, J
    Lux, P
    MacInnis, J
    Maierthaler, M
    Maishman, T
    Makalic, E
    Mannermaa, A
    Manoochehri, M
    Manoukian, S
    Margolin, S
    Martinez, E
    Mavroudis, D
    McLean, C
    Meindl, A
    Middha, P
    Miller, N
    Milne, L
    Moreno, F
    Mulligan, M
    Mulot, C
    Nassir, R
    Neuhausen, L
    Newman, T
    Nielsen, F
    Nordestgaard, G
    Norman, A
    Olsson, H
    Orr, N
    Pankratz, S
    Park-Simon, TW
    Perez, A
    Perez-Barrios, C
    Peterlongo, P
    Petridis, C
    Pinchev, M
    Prajzendanc, K
    Prentice, R
    Presneau, N
    Prokofieva, D
    Pylkas, K
    Rack, B
    Radice, P
    Ramachandran, D
    Rennert, G
    Rennert, S
    Rhenius, V
    Romero, A
    Roylance, R
    Saloustros, E
    Sawyer, J
    Schmidt, DF
    Schmutzler, K
    Schneeweiss, A
    Schoemaker, J
    Schumacher, F
    Schwentner, L
    Scott, J
    Scott, C
    Seynaeve, C
    Shah, M
    Simard, J
    Smeets, A
    Sohn, C
    Southey, C
    Swerdlow, J
    Talhouk, A
    Tamimi, M
    Tapper, J
    Teixeira, R
    Tengstrom, M
    Terry, B
    Thone, K
    Tollenaar, M
    Tomlinson, I
    Torres, D
    Truong, T
    Turman, C
    Turnbull, C
    Ulmer, U
    Untch, M
    Vachon, C
    van Asperen, J
    van den Ouweland, W
    van Veen, M
    Wendt, C
    Whittemore, S
    Willett, W
    Winqvist, R
    Wolk, A
    Yang, R
    Zhang, Y
    Easton, F
    Fasching, A
    Nevanlinna, H
    Eccles, M
    Pharoah, P
    Schmidt, K
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    Affiliation
    Radiotherapy Department, Christie Hospital NHS Trust, Manchester, UK
    Issue Date
    2019
    
    Metadata
    Show full item record
    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.
    Citation
    Escala-Garcia M, Guo Q, Dork T, Canisius S, Keeman R, Dennis J, et al. Genome-wide association study of germline variants and breast cancer-specific mortality. Br J Cancer. 2019 Feb 21.
    Journal
    British Journal of Cancer
    URI
    http://hdl.handle.net/10541/621706
    DOI
    10.1038/s41416-019-0393-x
    PubMed ID
    30787463
    Additional Links
    https://dx.doi.org/10.1038/s41416-019-0393-x
    Type
    Article
    Language
    en
    ae974a485f413a2113503eed53cd6c53
    10.1038/s41416-019-0393-x
    Scopus Count
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