Skip to content


  • Poster Presentation
  • Open Access

Screening for germline rearrangements in BRCA1 and BRCA2in Norwegian families with breast or breast/ovarian cancer

  • 1,
  • 1,
  • 1,
  • 2,
  • 3,
  • 2,
  • 1 and
  • 1
Breast Cancer Research20057 (Suppl 2) :P1.05

  • Published:


  • Breast Cancer
  • Homologous Recombination
  • Splice Site
  • Mutation Detection
  • BRCA2 Gene

Standard PCR-based mutation detection strategies performed on the BRCA1 and BRCA2 genes of breast and ovarian cancer families are mostly aimed at identifying changes in the coding sequences and in the donor-acceptor splice sites. Hence, mutations in the promoter and the untranslated regions, and large rearrangements, are not detected by these methods. To assess the importance of BRCA1 and BRCA2 alterations that are neglected by standard screening methods, we monitored germline rearrangements in these genes using 'multiplex ligation-dependent probe amplification' technology [1]. One hundred and seventy-nine Norwegian breast and ovarian cancer families were screened for rearrangements in BRCA1 while 97 families were tested for aberrations in BRCA2. Whereas no rearrangements were detected in BRCA2, four distinct deletions were found in BRCA1. Those deletions originating by Alu-mediated homologous recombination include: exons 1–13, exons 3–16, exons 8–13 and exon 23, respectively. The large 23.8 kb deletion excluding exons 8–13 in BRCA1 has been found both in the French and British breast cancer population [24]. The deletions of exons 1–13, exons 3–16 and exon 23 have not been previously reported.

Authors’ Affiliations

Department of Medical Genetics, University Hospital North Norway, Tromso, Norway
Section for Genetic Counselling, Cancer Genetics, The Norwegian Radium Hospital, Oslo, Norway
Centre for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway


  1. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002, 30: e57-10.1093/nar/gnf056.View ArticlePubMedPubMed CentralGoogle Scholar
  2. Puget N, Stoppa-Lyonnet D, Sinilnikova OM, Pages S, Lynch HT, Lenoir GM, Mazoyer S: Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. Cancer Res. 1999, 59: 455-461.PubMedGoogle Scholar
  3. Gad S, Caux-Moncoutier V, Pages-Berhouet S, Gauthier-Villars M, Coupier I, Pujol P, Frenay M, Gilbert B, Maugard C, Bignon YJ, et al: Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families. Oncogene. 2002, 21: 6841-6847. 10.1038/sj.onc.1205685.View ArticlePubMedGoogle Scholar
  4. Bunyan DJ, Eccles DM, Sillibourne J, Wilkins E, Thomas NS, Shea-Simonds J, Duncan PJ, Curtis CE, Robinson DO, Harvey JF, Cross NC: Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. Br J Cancer. 2004, 91: 1155-1159. 10.1038/sj.bjc.6602121.View ArticlePubMedPubMed CentralGoogle Scholar


© BioMed Central 2005