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dc.contributor.authorEscala-Garcia, Maria
dc.contributor.authorCanisius, Sander
dc.contributor.authorKeeman, Renske
dc.contributor.authorBeesley, Jonathan
dc.contributor.authorAnton-Culver, Hoda
dc.contributor.authorArndt, Volker
dc.contributor.authorAugustinsson, Annelie
dc.contributor.authorBecher, Heiko
dc.contributor.authorBeckmann, Matthias W
dc.contributor.authorBehrens, Sabine
dc.contributor.authorBermisheva, Marina
dc.contributor.authorBojesen, Stig E
dc.contributor.authorBolla, Manjeet K
dc.contributor.authorBrenner, Hermann
dc.contributor.authorCanzian, Federico
dc.contributor.authorCastelao, Jose E
dc.contributor.authorChang-Claude, Jenny
dc.contributor.authorChanock, Stephen J
dc.contributor.authorCouch, Fergus J
dc.contributor.authorCzene, Kamila
dc.contributor.authorDaly, Mary B
dc.contributor.authorDennis, Joe
dc.contributor.authorDevilee, Peter
dc.contributor.authorDörk, Thilo
dc.contributor.authorDunning, Alison M
dc.contributor.authorEaston, Douglas
dc.contributor.authorEkici, Arif B
dc.contributor.authorEliassen, A Heather
dc.contributor.authorFasching, Peter A
dc.contributor.authorFlyger, Henrik
dc.contributor.authorGago-Dominguez, Manuela
dc.contributor.authorGarcía-Closas, Montserrat
dc.contributor.authorGarcía-Sáenz, José A
dc.contributor.authorGeisler, Jürgen
dc.contributor.authorGiles, Graham G
dc.contributor.authorGrip, Mervi
dc.contributor.authorGündert, Melanie
dc.contributor.authorHahnen, Eric
dc.contributor.authorHaiman, Christopher A
dc.contributor.authorHåkansson, Niclas
dc.contributor.authorHall, Per
dc.contributor.authorHamann, Ute
dc.contributor.authorHartikainen, Jaana M
dc.contributor.authorHeemskerk-Gerritsen, Bernadette AM
dc.contributor.authorHollestelle, Antoinette
dc.contributor.authorHoppe, Reiner
dc.contributor.authorHopper, John L
dc.contributor.authorHunter, David J
dc.contributor.authorJacot, William
dc.contributor.authorJakubowska, Anna
dc.contributor.authorJohn, Esther M
dc.contributor.authorJung, Audrey Y
dc.contributor.authorKaaks, Rudolf
dc.contributor.authorKhusnutdinova, Elza
dc.contributor.authorKoppert, Linetta B
dc.contributor.authorKraft, Peter
dc.contributor.authorKristensen, Vessela N
dc.contributor.authorKurian, Allison W
dc.contributor.authorLambrechts, Diether
dc.contributor.authorLe Marchand, Loic
dc.contributor.authorLindblom, Annika
dc.contributor.authorLuben, Robert N
dc.contributor.authorLubiński, Jan
dc.contributor.authorMannermaa, Arto
dc.contributor.authorManoochehri, Mehdi
dc.contributor.authorMargolin, Sara
dc.contributor.authorMavroudis, Dimitrios
dc.contributor.authorMuranen, Taru A
dc.contributor.authorNevanlinna, Heli
dc.contributor.authorOlshan, Andrew F
dc.contributor.authorOlsson, Håkan
dc.contributor.authorPark-Simon, Tjoung-Won
dc.contributor.authorPatel, Alpa V
dc.contributor.authorPeterlongo, Paolo
dc.contributor.authorPharoah, Paul
dc.contributor.authorPunie, Kevin
dc.contributor.authorRadice, Paolo
dc.contributor.authorRennert, Gad
dc.contributor.authorRennert, Hedy S
dc.contributor.authorRomero, Atocha
dc.contributor.authorRoylance, Rebecca
dc.contributor.authorRüdiger, Thomas
dc.contributor.authorRuebner, Matthias
dc.contributor.authorSaloustros, Emmanouil
dc.contributor.authorSawyer, Elinor J
dc.contributor.authorSchmutzler, Rita K
dc.contributor.authorSchoemaker, Minouk J
dc.contributor.authorScott, Christopher
dc.contributor.authorSouthey, Melissa C
dc.contributor.authorSurowy, Harald
dc.contributor.authorSwerdlow, Anthony J
dc.contributor.authorTamimi, Rulla M
dc.contributor.authorTeras, Lauren R
dc.contributor.authorThomas, Emilie
dc.contributor.authorTomlinson, Ian
dc.contributor.authorTroester, Melissa A
dc.contributor.authorVachon, Celine M
dc.contributor.authorWang, Qin
dc.contributor.authorWinqvist, Robert
dc.contributor.authorWolk, Alicja
dc.contributor.authorZiogas, Argyrios
dc.contributor.authorkConFab/AOCS Investigators
dc.contributor.authorMichailidou, Kyriaki
dc.contributor.authorChenevix-Trench, Georgia
dc.contributor.authorBachelot, Thomas
dc.contributor.authorSchmidt, Marjanka K
dc.date.accessioned2021-11-25T17:28:54Z
dc.date.available2021-11-25T17:28:54Z
dc.date.issued2021-10-05
dc.identifier.issn2045-2322
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/331180
dc.description.abstractBreast 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.
dc.format.mediumElectronic
dc.languageeng
dc.publisherSpringer Science and Business Media LLC
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectkConFab/AOCS Investigators
dc.titleGermline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis.
dc.typeArticle
prism.issueIdentifier1
prism.publicationDate2021
prism.publicationNameSci Rep
prism.startingPage19787
prism.volume11
dc.identifier.doi10.17863/CAM.78627
dc.identifier.doi10.17863/CAM.78627
dcterms.dateAccepted2021-09-07
rioxxterms.versionofrecord10.1038/s41598-021-99409-3
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2021-10-05
dc.contributor.orcidDennis, Joe [0000-0003-4591-1214]
dc.contributor.orcidEaston, Douglas [0000-0003-2444-3247]
dc.contributor.orcidPharoah, Paul [0000-0001-8494-732X]
dc.identifier.eissn2045-2322
rioxxterms.typeJournal Article/Review
pubs.funder-project-idNational Cancer Institute (U19CA148537)
pubs.funder-project-idNational Cancer Institute (R01CA128978)
pubs.funder-project-idNational Cancer Institute (U19CA148065)
pubs.funder-project-idEuropean Commission (16563)
pubs.funder-project-idEuropean Commission (223175)
pubs.funder-project-idEuropean Commission Horizon 2020 (H2020) Societal Challenges (634935)
pubs.funder-project-idEuropean Commission Horizon 2020 (H2020) Societal Challenges (633784)
pubs.funder-project-idCancer Research UK (CRUK-A10710)
pubs.funder-project-idCancer Research UK (CRUK-A12014)
pubs.funder-project-idCancer Research UK (CRUK-A10118)
cam.issuedOnline2021-10-05


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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International