Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany

Hum Mutat. 2003 Sep;22(3):259. doi: 10.1002/humu.9174.


BRCA1 and BRCA2 germline mutations cause a substantially increased life time risk of both breast and ovarian cancer. Mutational screening of these genes by means of Denaturing High Performance Liquid Chromatography (DHPLC) in breast and/or ovarian cancer-prone families from Southern Germany revealed 15 novel BRCA1 and 8 novel BRCA2 sequence variants. Predictions on the BRCA1/BRCA2 protein functions lead to the identification of 11 novel deleterious cancer predisposing mutations. Mutation types and their functional relevances are discussed. Our data contribute to phenotype-genotype correlation studies and to the characterisation of the mutation spectrum of BRCA1/BRCA2.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • BRCA1 Protein / genetics*
  • BRCA2 Protein / genetics*
  • Breast Neoplasms / genetics*
  • Codon, Nonsense / genetics
  • Family*
  • Female
  • Frameshift Mutation
  • Genes, BRCA1
  • Genes, BRCA2
  • Genetic Predisposition to Disease*
  • Germ-Line Mutation / genetics*
  • Germany
  • Humans
  • Male
  • Mutation, Missense
  • Ovarian Neoplasms / genetics*
  • Prostatic Neoplasms / genetics
  • Sequence Analysis, DNA


  • BRCA1 Protein
  • BRCA2 Protein
  • Codon, Nonsense