Somatic mutations in the BRCA1 gene in sporadic ovarian tumours

Nat Genet. 1995 Apr;9(4):439-43. doi: 10.1038/ng0495-439.


The BRCA1 gene on chromosome 17q21 is responsible for an autosomal dominant syndrome of increased susceptibility to breast and ovarian cancer but no somatic mutations in tumours have yet been described. To study the potential role of BRCA1 in sporadic carcinogenesis, we analysed the genomic DNA of tumour and normal fractions of 47 ovarian cancers for mutations in BRCA1 using the single-strand conformation polymorphism technique. We now describe somatic mutations in the DNA of four tumours which also had loss of heterozygosity (LOH) at a BRCA1 intragenic marker. Our data support a tumour suppressor mechanism for BRCA1; somatic mutations and LOH may result in inactivation of BRCA1 in at least a small number of ovarian cancers.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Amino Acid Sequence
  • Base Sequence
  • Chromosomes, Human, Pair 17
  • DNA, Neoplasm / genetics
  • Female
  • Genes, Dominant
  • Genes, Tumor Suppressor
  • Humans
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*
  • Oncogenes*
  • Ovarian Neoplasms / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic


  • DNA, Neoplasm