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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)
Publ. Version/Full Text Research data 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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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
ISSN (print) / ISBN 2045-2322
e-ISSN 2045-2322
Journal Scientific Reports
Quellenangaben Volume: 11, Issue: 1, Pages: , Article Number: 19787 Supplement: ,
Publisher Nature Publishing Group
Publishing Place London
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Diabetes Research Type 1 (IDF)
Grants Medical Research Council
NCI NIH HHS