Citation
Escala-Garcia, Maria; Canisius, Sander; Keeman, Renske; Beesley, Jonathan; Anton-Culver, Hoda; Arndt, Volker; Augustinsson, Annelie; Becher, Heiko; Beckmann, Matthias W.; & Behrens, Sabine, et al. (2021). Germline Variants and Breast Cancer Survival in Patients with Distant Metastases at Primary Breast Cancer Diagnosis. Scientific Reports, 11(1), 19787. PMCID: PMC8492709Abstract
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.URL
http://dx.doi.org/10.1038/s41598-021-99409-3Reference Type
Journal ArticleYear Published
2021Journal Title
Scientific ReportsAuthor(s)
Escala-Garcia, MariaCanisius, Sander
Keeman, Renske
Beesley, Jonathan
Anton-Culver, Hoda
Arndt, Volker
Augustinsson, Annelie
Becher, Heiko
Beckmann, Matthias W.
Behrens, Sabine
Bermisheva, Marina
Bojesen, Stig Egil
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, Jaana M.
Heemskerk-Gerritsen, Bernadette A. M.
Hollestelle, Antoinette
Hoppe, Reiner
Hopper, John L.
Hunter, David J.
Jacot, William
Jakubowska, Anna
John, Esther M.
Jung, Audrey
Kaaks, Rudolf
Khusnutdinova, Elza
Koppert, Linetta B.
Kraft, Peter
Kristensen, Vessela N.
Kurian, Allison W.
Lambrechts, Diether
Le Marchand, Loic
Lindblom, Annika
Luben, Robert
Lubi
ński, Jan
Mannermaa, Arto
Manoochehri, Mehdi
Margolin, Sara
Mavroudis, Dimitrios
Muranen, Taru A.
Nevanlinna, Heli
Olshan, Andrew F.
Olsson, H
åkan
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 J.
Tamimi, Rulla M.
Teras, Lauren R.
Thomas, Emilie
Tomlinson, Ian
Troester, Melissa A.
Vachon, Celine M.
Wang, Qin
Winqvist, Robert
Wolk, Alicja
Ziogas, Argyrios
kConFab/AOCS Investigators
Michailidou, Kyriaki
Chenevix-Trench, Georgia
Bachelot, Thomas
Schmidt, Marjanka K.