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BRCA1 and BRCA2 point mutations and large rearrangements in breast and ovarian cancer families in Northern Poland

  • Magdalena Ratajska
  • Izabela Brozek
  • Elzbieta Senkus-Konefka
  • Jacek Jassem
  • Magdalena Stepnowska
  • Grazia Palomba
  • Marina Pisano
  • Milena Casula
  • Giuseppe Palmieri
  • Åke Borg
  • Janusz Limon
Publishing year: 2008
Language: English
Pages: 263-268
Publication/Series: Oncology Reports
Volume: 19
Issue: 1
Document type: Journal article
Publisher: D.A. Spandidos

Abstract english

Sixty-four Polish families with a history of breast and/or ovarian cancer were screened for mutations in the BRCA1/2 genes using a combination of denaturing high performance liquid chromatography (DHPLC) and sequencing. Two thirds (43/64; 67%) of the families were found to carry deleterious mutations, of which the most frequent were BRCA1 5382insC (n=22/43; 51%) and Cys61Gly (n=9/43; 20%). Two other recurrent mutations were BRCA1 185delAG (n=3) and 3819del5 (n=4), together accounting for 16% of the 43 mutation-positive cases. We also found three novel mutations (BRCA1 2991del5, BRCA2 6238ins2del21 and 8876delC) which combined with findings from our earlier study of 60 Northern Polish families. Moreover, screening of 43 BRCA1/2 negative families for the presence of large rearrangements by multiplex ligation-dependent probe amplification (MLPA) resulted in the finding of two additional BRCA1 mutations: a deletion of exons 1A, 1B and 2, and a deletion of exons 17-19, both present in single families. We conclude that the Polish population has a diverse mutation spectrum influenced by strong founder effects. However, families with strong breast/ovarian cancer history who are negative for these common mutations should be offered a complete BRCA gene screening, including MLPA analysis.


  • Cancer and Oncology


  • ISSN: 1791-2431
Åke Borg
Åke Borg
E-mail: ake [dot] borg [at] med [dot] lu [dot] se

Principal investigator

Oncology and Pathology, MV

+46 46 275 25 52

MV 404 C21B2


Project manager

Familial Breast Cancer



Oncology and Pathology, MV

MV 404 C21C2