Escala-Garcia, Maria, Canisius, Sander, Keeman, Renske, Beesley, Jonathan ORCID: 0000-0003-1942-325X, Anton-Culver, Hoda, Arndt, Volker, Augustinsson, Annelie, Becher, Heiko ORCID: 0000-0002-8808-6667, Beckmann, Matthias W., Behrens, Sabine, Bermisheva, Marina, Bojesen, Stig E., Bolla, Manjeet K., Brenner, Hermann ORCID: 0000-0002-6129-1572, Canzian, Federico, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Couch, Fergus J., Czene, Kamila, Daly, Mary B., Dennis, Joe, Devilee, Peter, Dork, Thilo, Dunning, Alison M., Easton, Douglas F., Ekici, Arif B., Eliassen, A. Heather, Fasching, Peter A., Flyger, Henrik, Gago-Dominguez, Manuela, Garcia-Closas, Montserrat ORCID: 0000-0003-1033-2650, Garcia-Saenz, Jose A., Geisler, Juergen, Giles, Graham G., Grip, Mervi, Guendert, Melanie, Hahnen, Eric, Haiman, Christopher A., Hakansson, 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 Y., Kaaks, Rudolf, Khusnutdinova, Elza, Koppert, Linetta B., Kraft, Peter, Kristensen, Vessela N., Kurian, Allison W., Lambrechts, Diether ORCID: 0000-0002-3429-302X, Le Marchand, Loic, Lindblom, Annika, Luben, Robert N., Lubinski, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Muranen, Taru A., Nevanlinna, Heli, Olshan, Andrew F., Olsson, Hakan, Park-Simon, Tjoung-Won, Patel, Alpa V., Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Pharoah, Paul D. P., Punie, Kevin, Radice, Paolo, Rennert, Gad, Rennert, Hedy S., Romero, Atocha, Roylance, Rebecca, Ruediger, 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 ORCID: 0000-0003-0932-9104, Wolk, Alicja, Ziogas, Argyrios, Michailidou, Kyriaki, Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Bachelot, Thomas and Schmidt, Marjanka K. (2021). Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis. Sci Rep, 11 (1). BERLIN: NATURE PORTFOLIO. ISSN 2045-2322

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Abstract

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 x 10(-8) and 4.42 x 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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Escala-Garcia, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Canisius, SanderUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Keeman, RenskeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beesley, JonathanUNSPECIFIEDorcid.org/0000-0003-1942-325XUNSPECIFIED
Anton-Culver, HodaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arndt, VolkerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Augustinsson, AnnelieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Becher, HeikoUNSPECIFIEDorcid.org/0000-0002-8808-6667UNSPECIFIED
Beckmann, Matthias W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Behrens, SabineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bermisheva, MarinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bojesen, Stig E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bolla, Manjeet K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brenner, HermannUNSPECIFIEDorcid.org/0000-0002-6129-1572UNSPECIFIED
Canzian, FedericoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Castelao, Jose E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chang-Claude, JennyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chanock, Stephen J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Couch, Fergus J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Czene, KamilaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Daly, Mary B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dennis, JoeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Devilee, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dork, ThiloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dunning, Alison M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Easton, Douglas F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ekici, Arif B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eliassen, A. HeatherUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fasching, Peter A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Flyger, HenrikUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gago-Dominguez, ManuelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garcia-Closas, MontserratUNSPECIFIEDorcid.org/0000-0003-1033-2650UNSPECIFIED
Garcia-Saenz, Jose A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Geisler, JuergenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giles, Graham G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Grip, MerviUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Guendert, MelanieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hahnen, EricUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haiman, Christopher A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hakansson, NiclasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hall, PerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hamann, UteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hartikainen, Jaana M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heemskerk-Gerritsen, Bernadette A. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hollestelle, AntoinetteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoppe, ReinerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hopper, John L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hunter, David J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jacot, WilliamUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jakubowska, AnnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
John, Esther M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jung, Audrey Y.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kaaks, RudolfUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Khusnutdinova, ElzaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Koppert, Linetta B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kraft, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kristensen, Vessela N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kurian, Allison W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lambrechts, DietherUNSPECIFIEDorcid.org/0000-0002-3429-302XUNSPECIFIED
Le Marchand, LoicUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lindblom, AnnikaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Luben, Robert N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lubinski, JanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mannermaa, ArtoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Manoochehri, MehdiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Margolin, SaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mavroudis, DimitriosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Muranen, Taru A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nevanlinna, HeliUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Olshan, Andrew F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Olsson, HakanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Park-Simon, Tjoung-WonUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Patel, Alpa V.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Peterlongo, PaoloUNSPECIFIEDorcid.org/0000-0001-6951-6855UNSPECIFIED
Pharoah, Paul D. P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Punie, KevinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Radice, PaoloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rennert, GadUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rennert, Hedy S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Romero, AtochaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Roylance, RebeccaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ruediger, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ruebner, MatthiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Saloustros, EmmanouilUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sawyer, Elinor J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmutzler, Rita K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schoemaker, Minouk J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Scott, ChristopherUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Southey, Melissa C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Surowy, HaraldUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Swerdlow, Anthony J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tamimi, Rulla M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Teras, Lauren R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thomas, EmilieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tomlinson, IanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Troester, Melissa A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vachon, Celine M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wang, QinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Winqvist, RobertUNSPECIFIEDorcid.org/0000-0003-0932-9104UNSPECIFIED
Wolk, AlicjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ziogas, ArgyriosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Michailidou, KyriakiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chenevix-Trench, GeorgiaUNSPECIFIEDorcid.org/0000-0002-1878-2587UNSPECIFIED
Bachelot, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmidt, Marjanka K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-608358
DOI: 10.1038/s41598-021-99409-3
Journal or Publication Title: Sci Rep
Volume: 11
Number: 1
Date: 2021
Publisher: NATURE PORTFOLIO
Place of Publication: BERLIN
ISSN: 2045-2322
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
SUSCEPTIBILITY; NETWORK; WOMENMultiple languages
Multidisciplinary SciencesMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/60835

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