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Escala-Garcia, M.* ; Canisius, S.* ; Keeman, R.* ; Beesley, J.* ; Anton-Culver, H.* ; Arndt, V.* ; Augustinsson, A.* ; Becher, H.* ; Beckmann, M.W.* ; Behrens, S.* ; Bermisheva, M.* ; Bojesen, S.E.* ; Bolla, M.K.* ; Brenner, H.* ; Canzian, F.* ; Castelao, J.E.* ; Chang-Claude, J.* ; Chanock, S.J.* ; Couch, F.J.* ; Czene, K.* ; Daly, M.B.* ; Dennis, J.* ; Devilee, P.* ; Dörk, T.* ; Dunning, A.M.* ; Easton, D.F.* ; Ekici, A.B.* ; Eliassen, A.H.* ; Fasching, P.A.* ; Flyger, H.* ; Gago-Dominguez, M.* ; Garcia-Closas, M.* ; García-Sáenz, J.A.* ; Geisler, J.* ; Giles, G.G.* ; Grip, M.* ; Gündert, M. ; Hahnen, E.* ; Haiman, C.A.* ; Håkansson, N.* ; Hall, P.* ; Hamann, U.* ; Hartikainen, J.M.* ; Heemskerk-Gerritsen, B.A.M.* ; Hollestelle, A.* ; Hoppe, R.* ; Hopper, J.L.* ; Hunter, D.J.* ; Jacot, W.* ; Jakubowska, A.* ; John, E.M.* ; Jung, A.Y.* ; Kaaks, R.* ; Khusnutdinova, E.* ; Koppert, L.B.* ; Kraft, P.* ; Kristensen, V.N.* ; Kurian, A.W.* ; Lambrechts, D.* ; Le Marchand, L.* ; Lindblom, A.* ; Luben, R.N.* ; Lubiński, J.* ; Mannermaa, A.* ; Manoochehri, M.* ; Margolin, S.* ; Mavroudis, D.* ; Muranen, T.A.* ; Nevanlinna, H.* ; Olshan, A.F.* ; Olsson, H.* ; Park-Simon, T.W.* ; Patel, A.V.* ; Peterlongo, P.* ; Pharoah, P.D.P.* ; Punie, K.* ; Radice, P.* ; Rennert, G.* ; Rennert, H.S.* ; Romero, A.* ; Roylance, R.* ; Rudiger, T.* ; Ruebner, M.* ; Saloustros, E.* ; Sawyer, E.J.* ; Schmutzler, R.K.* ; Schoemaker, M.J.* ; Scott, C.* ; Southey, M.C.* ; Surowy, H.M.* ; Swerdlow, A.J.* ; Tamimi, R.M.* ; Teras, L.R.* ; Thomas, E.L.* ; Tomlinson, I.* ; Troester, M.A.* ; Vachon, C.M.* ; Wang, Q.* ; Winqvist, R.* ; Wolk, A.* ; Ziogas, A.* ; Michailidou, K.* ; Chenevix-Trench, G.* ; Bachelot, T.* ; Schmidt, M.K.*

Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis.

Sci. Rep. 11:19787 (2021)
Verlagsversion Forschungsdaten DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
ISSN (print) / ISBN 2045-2322
e-ISSN 2045-2322
Zeitschrift Scientific Reports
Quellenangaben Band: 11, Heft: 1, Seiten: , Artikelnummer: 19787 Supplement: ,
Verlag Nature Publishing Group
Verlagsort London
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Diabetes Research Type 1 (IDF)
Förderungen Medical Research Council
NCI NIH HHS