A deletion/insertion mutation in the BRCA2 gene in a breast cancer family: a possible role of the Alu-polyA tail in the evolution of the deletion

Genes Chromosomes Cancer. 2001 May;31(1):91-5. doi: 10.1002/gcc.1110.


Patients with breast and/or ovarian cancer were screened for gross rearrangements in the BRCA2 gene by Southern hybridization, with exon 10 and a fragment of exon 11 used as probes. One breast cancer patient with a positive family history had a 6.2-kb deletion including exons 12 and 13. The deletion breakpoint in intron 11 was in the 3' polyA tail of an Alu element, where a track of approximately 60 adenine nucleotide residues was inserted. Expansion of the Alu-polyA tail may have resulted from polymerase slippage during replication, representing a novel mechanism in which Alu elements mediate deletion/insertion mutations.

MeSH terms

  • Adult
  • Aged
  • Alu Elements / genetics*
  • BRCA2 Protein
  • Breast Neoplasms / genetics*
  • Chromosome Breakage / genetics
  • Chromosome Deletion*
  • Evolution, Molecular
  • Female
  • Genetic Markers
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Male
  • Middle Aged
  • Mutagenesis, Insertional / genetics*
  • Mutation / genetics*
  • Neoplasm Proteins / genetics*
  • Pedigree
  • Poly A / genetics*
  • Transcription Factors / genetics*


  • BRCA2 Protein
  • Genetic Markers
  • Neoplasm Proteins
  • Transcription Factors
  • Poly A