Tetraploidy in BRCA2 breast tumours

Ásta Björk Jónsdóttir, Olafur Andri Stefansson, Johannes Bjornsson, Jon G. Jonasson, Helga M. Ögmundsdóttir, Jórunn E. Eyfjörð*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)


Tetraploidy and aneuploidy can be caused by cell division errors and are frequently observed in many human carcinomas. We have recently reported delayed cytokinesis in primary human fibroblasts from BRCA2 mutation carriers, implying a function for the BRCA2 tumour suppressor in completion of cell division. Here, we address ploidy aberrations in breast tumours derived from BRCA2 germline mutation carriers. Ploidy aberrations were evaluated from flow cytometry histograms on selected breast tumour samples (n = 236), previously screened for local BRCA mutations. The ploidy between BRCA2-mutated (n = 71) and matched sporadic (n = 165) cancers was compared. Differences in ploidy distribution were examined with respect to molecular tumour subtypes, previously defined by immunohistochemistry on tissue microarray sections. Tetraploidy was significantly 3 times more common in BRCA2 breast cancers than sporadic. However, no differences were found in the overall ploidy distribution between BRCA2-mutation carriers and non-carriers. In BRCA2 cancers, tetraploidy was associated with luminal characteristics. The increased frequency of tetraploidy in BRCA2 associated cancers may be linked to cell division errors, particularly cytokinesis. Additionally, tetraploidy emerges predominantly in BRCA2 breast cancers displaying luminal rather than triple-negative phenotypes.

Original languageEnglish
Pages (from-to)305-310
Number of pages6
JournalEuropean Journal of Cancer
Issue number3
Publication statusPublished - Feb 2012

Bibliographical note

Funding Information:
This work is funded by the University of Iceland Research Fund (ABJ and OAS) and Soroptimist International of Europe (ABJ) .

Other keywords

  • Aneuploidy
  • BRCA2
  • Breast cancer
  • Cytokinesis
  • Diploidy
  • Flow cytometry
  • Luminal
  • Tetraploidy
  • Triple-negative phenotype


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