Identification of a new complex deleterious mutation in exon 18 of the BRCA2 gene in a hereditary male/female breast cancer family

Breast Cancer Res Treat. 2010 Sep;123(2):587-90. doi: 10.1007/s10549-010-0830-2. Epub 2010 Mar 16.

Abstract

We report a novel complex mutation that consists of a deletion of 12 bp and an insertion of 2 bp (c.8402_8413del12ins2bp) in the exon 18 of the BRCA2 gene. This is a frameshift mutation that causes a disruption of the translational reading frame resulting in a stop codon downstream in the 2729 position of the BRCA2 protein. The mutation was present in a Spanish hereditary male/female breast cancer family.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • BRCA2 Protein / genetics*
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • Breast Neoplasms, Male / genetics*
  • Breast Neoplasms, Male / pathology
  • Codon, Terminator
  • DNA Mutational Analysis
  • Exons
  • Female
  • Frameshift Mutation
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Male
  • Middle Aged
  • Mutagenesis, Insertional
  • Mutation*
  • Pedigree
  • Sequence Deletion
  • Spain

Substances

  • BRCA2 Protein
  • BRCA2 protein, human
  • Codon, Terminator