Exclusion of large deletions and other rearrangements in BRCA1 and BRCA2 in Finnish breast and ovarian cancer families

Cancer Genet Cytogenet. 2001 Sep;129(2):120-3. doi: 10.1016/s0165-4608(01)00437-x.


In the Finnish population, identified mutations in BRCA1 and BRCA2 account for a less than expected proportion of hereditary breast and ovarian cancer. All previous studies performed in our country have concentrated on finding germ-line mutations in the coding and splice-site regions of these two genes. Therefore, we wanted to use a different methodological approach and search for large genomic rearrangements, to exclude the possibility of biased BRCA1 and BRCA2 mutation spectra due to known limitations of the previously used PCR-based detection methods. Our results support earlier notions that other genes than BRCA1 and BRCA2 will explain a majority of the still unexplained cases of hereditary susceptibility to breast and ovarian cancer.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • BRCA1 Protein / genetics*
  • BRCA2 Protein
  • Blotting, Southern
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • Family
  • Female
  • Finland / epidemiology
  • Genetic Predisposition to Disease
  • Genetic Testing*
  • Humans
  • Neoplasm Proteins / genetics*
  • Ovarian Neoplasms / epidemiology
  • Ovarian Neoplasms / genetics*
  • Sequence Deletion*
  • Transcription Factors / genetics*


  • BRCA1 Protein
  • BRCA2 Protein
  • Neoplasm Proteins
  • Transcription Factors