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

Mads Thomassen; Torben A Kruse; Peter K A Jensen; Anne-Marie Gerdes

doi:10.1089/gte.2006.10.116

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.

Authors

Mads Thomassen¹, Torben A Kruse, Peter K A Jensen, Anne-Marie Gerdes

Affiliation

¹ Department of Clinical Genetics and Clinical Biochemistry, Odense University Hospital, Odense, Denmark. [email protected]

PMID: 16792514
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