Loss of nuclear BRCA1 protein staining in normal tissue cells derived from BRCA1 and BRCA2 mutation carriers

Sylvia De Brakeleer, Marika Bogdani, Jacques De Grève, Julie Decock, Erica Sermijn, Maryse Bonduelle, Guido Goelen, Erik Teugels

Research output: Contribution to journalArticle

5 Citations (Scopus)


Enhanced genomic instability has been recently reported in normal cells derived from BRCA1/2 mutation carriers when placed in vitro in non-physiological stress conditions. We present here original data which help to explain the observed genomic instability. Leucocytes from BRCA1/2 mutation carriers, sporadic breast cancer patients and controls were prepared for BRCA1 immunocytochemistry. We show that BRCA1 containing nuclear dot like structures are detectable in about 80% of the leucocytes from controls and sporadic breast cancer patients, but are absent in the majority of normal cells from BRCA1 as well as BRCA2 mutation carriers (also in their normal breast cells). Our results thus indicate that the genomic instability observed in normal cells from BRCA1 and BRCA2 mutation carriers is associated with a down-regulation of nuclear BRCA1 protein accumulation in the dot like structures. These results suggest in addition that immunocytochemical or alternative molecular screening strategies might help to identify women with a high risk for breast (ovarian) cancer even when the underlying genetic defect remains undetectable.

Original languageEnglish
Pages (from-to)104-112
Number of pages9
JournalMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
Issue number1-2
Publication statusPublished - 1 Jun 2007
Externally publishedYes



  • BRCA1
  • BRCA2
  • Breast cancer
  • Immunocytochemistry

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Health, Toxicology and Mutagenesis

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