A missense mutation in exon 13 in BRCA2, c.7235G>A, results in skipping of exon 13

Genet Test. 2006 Summer;10(2):116-20. doi: 10.1089/gte.2006.10.116.

Abstract

We report here the functional characterisation of a missense mutation c.7235G>A in BRCA2. By reverse transcriptase polymerase chain reaction the mutation is demonstrated to cause skipping of exon 13. We conclude that the mutation is most likely deleterious.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alternative Splicing*
  • Breast Neoplasms / genetics*
  • DNA Mutational Analysis
  • Exons
  • Female
  • Gene Expression Profiling
  • Genes, BRCA2*
  • Genetic Carrier Screening
  • Humans
  • Male
  • Mutation, Missense*
  • Pedigree
  • Reverse Transcriptase Polymerase Chain Reaction