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A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing

  • Mads Thomassen
  • Inge Sokilde Pedersen
  • Ida Vogel
  • Thomas v. O. Hansen
  • Charlotte Brasch-Andersen
  • Claus L. Brasen
  • Dorthe Cruger
  • Lone Sunde
  • Finn C. Nielsen
  • Uffe B. Jensen
  • Marie Luise Bisgaard
  • Åke Borg
  • Anne-Marie Gerdes
  • Torben A. Kruse
Publishing year: 2011
Language: English
Pages: 179-185
Publication/Series: Breast Cancer Research and Treatment
Volume: 128
Issue: 1
Document type: Journal article
Publisher: Springer

Abstract english

Inherited mutations in the tumor suppressor genes BRCA1 and BRCA2 predispose carriers to breast and ovarian cancer. The authors have identified a mutation in BRCA2, 7845+1G > A (c.7617+1G > A), not previously regarded as deleterious because of incorrect mapping of the splice junction in the originally published genomic reference sequence. This reference sequence is generally used in many laboratories and it maps the mutation 16 base pairs inside intron 15. However, according to the recent reference sequences the mutation is located in the consensus donor splice sequence. By reverse transcriptase analysis, loss of exon 15 in the final transcript interrupting the open reading frame was demonstrated. Furthermore, the mutation segregates with a cancer phenotype in 18 Danish families. By genetic analysis of more than 3,500 Danish breast/ovarian cancer risk families, the mutation was identified as the most common BRCA2 mutation in West Denmark, while it is rare in Central and East Denmark and not identified in South Sweden. Haplotype analysis using dense SNP arrays indicated a common founder of the mutation approximately 1,500 years ago.


  • Cancer and Oncology
  • Hereditary breast cancer
  • BRCA2
  • 7845+1G > A
  • Founder mutation
  • Mutation age
  • SNP array
  • RT-PCR


  • CREATE Health
  • ISSN: 1573-7217
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