Research
Print page Print page
Switch language
Bispebjerg Hospital - a part of Copenhagen University Hospital
Published

Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Instrumental variable analysis using offspring BMI in childhood as an indicator of parental BMI in relation to mortality

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. DeepFake electrocardiograms using generative adversarial networks are the beginning of the end for privacy issues in medicine

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Biomarkers of subclinical atherosclerosis in patients with psoriasis

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Using machine learning for predicting intensive care unit resource use during the COVID-19 pandemic in Denmark

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Chronic lymphocytic leukaemia clones are detectable decades before diagnosis

    Research output: Contribution to journalLetterResearchpeer-review

  2. Rare germline copy number variants (CNVs) and breast cancer risk

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Association of fatal myocardial infarction with past level of physical activity: a pooled analysis of cohort studies

    Research output: Contribution to journalJournal articleResearchpeer-review

  • 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
View graph of relations

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.

Original languageEnglish
Article number19787
JournalScientific Reports
Volume11
Issue number1
Pages (from-to)19787
ISSN2045-2322
DOIs
Publication statusPublished - 5 Oct 2021

Bibliographical note

© 2021. The Author(s).

ID: 68354832