BRCA2 mutations in primary breast and ovarian cancers

Nat Genet. 1996 Jun;13(2):238-40. doi: 10.1038/ng0696-238.


The second hereditary breast cancer gene, BRCA2, was recently isolated. Germline mutations of this gene predispose carriers to breast cancer, and, to a lesser extent, ovarian cancer. Loss of heterozygosity (LOH) at the BRCA2 locus has been observed in 30-40% of sporadic breast and ovarian tumours, implying that BRCA2 may act as a tumour suppressor gene in a proportion of sporadic cases. To define the role of BRCA2 in sporadic breast and ovarian cancer, we screened the entire gene for mutations using a combination of techniques in 70 primary breast carcinomas and in 55 primary epithelial ovarian carcinomas. Our analysis revealed alterations in 2/70 breast tumours and none of the ovarian carcinomas. One alteration found in the breast cancers was a 2-basepair (bp) deletion (4710delAG) which was subsequently shown to be a germline mutation, the other was a somatic missense mutation (Asp3095Glu) of unknown significance. Our results suggest that BRCA2 is a very infrequent target for somatic inactivation in breast and ovarian carcinomas, similar to the results obtained for BRCA1.

Publication types

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

MeSH terms

  • Aged
  • BRCA2 Protein
  • Base Sequence
  • Breast Neoplasms / genetics*
  • DNA Primers
  • Female
  • Genetic Markers
  • Heterozygote
  • Humans
  • Lymphocytes / physiology
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*
  • Neoplasm Proteins / genetics*
  • Ovarian Neoplasms / genetics*
  • Retinoblastoma Protein / genetics
  • Sequence Deletion
  • Transcription Factors / genetics*


  • BRCA2 Protein
  • DNA Primers
  • Genetic Markers
  • Neoplasm Proteins
  • Retinoblastoma Protein
  • Transcription Factors