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Bispebjerg Hospital - en del af Københavns Universitetshospital
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Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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  • Maria Escala-Garcia
  • Sander Canisius
  • Renske Keeman
  • Jonathan Beesley
  • Hoda Anton-Culver
  • Volker Arndt
  • Annelie Augustinsson
  • Heiko Becher
  • Matthias W Beckmann
  • Sabine Behrens
  • Marina Bermisheva
  • Stig E Bojesen
  • Manjeet K Bolla
  • Hermann Brenner
  • Federico Canzian
  • Jose E Castelao
  • Jenny Chang-Claude
  • Stephen J Chanock
  • Fergus J Couch
  • Kamila Czene
  • Mary B Daly
  • Joe Dennis
  • Peter Devilee
  • Thilo Dörk
  • Alison M Dunning
  • Douglas F Easton
  • Arif B Ekici
  • A Heather Eliassen
  • Peter A Fasching
  • Henrik Flyger
  • Manuela Gago-Dominguez
  • Montserrat García-Closas
  • José A García-Sáenz
  • Jürgen Geisler
  • Graham G Giles
  • Mervi Grip
  • Melanie Gündert
  • Eric Hahnen
  • Christopher A Haiman
  • Niclas Håkansson
  • Per Hall
  • Ute Hamann
  • Jaana M Hartikainen
  • Bernadette A M Heemskerk-Gerritsen
  • Antoinette Hollestelle
  • Reiner Hoppe
  • John L Hopper
  • David J Hunter
  • William Jacot
  • Anna Jakubowska
  • kConFab/AOCS Investigators
Vis graf over relationer

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.

OriginalsprogEngelsk
Artikelnummer19787
TidsskriftScientific Reports
Vol/bind11
Udgave nummer1
Sider (fra-til)19787
ISSN2045-2322
DOI
StatusUdgivet - 5 okt. 2021

Bibliografisk note

© 2021. The Author(s).

ID: 68354832