High prevalence of the 999del5 mutation in icelandic breast and ovarian cancer patients

Cancer Res. 1996 Aug 15;56(16):3663-5.

Abstract

Studies on Icelandic breast cancer families have shown that most of them segregate a 999del5 BRCA2 mutation. Here, we report the frequency of the 999del5 BRCA2 mutation in an Icelandic control population and four different groups of cancer patients diagnosed with (a) breast cancer; (b) ovarian cancer; (c) prostate cancer (patients younger than 65 years); and (d) other cancer types. The proportions of individuals carrying the mutation were 0.4% in the control population and in the patient groups 8.5%, 7.9%, 2.7%, and 1.0%, respectively. Our results indicate that BRCA2 confers a very high risk of breast cancer and is responsible for a substantial fraction of breast and ovarian cancer in Iceland, but only a small proportion of other cancers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age Factors
  • Aged
  • Aged, 80 and over
  • BRCA2 Protein
  • Base Sequence
  • Breast Neoplasms / genetics*
  • Female
  • Gene Deletion*
  • Humans
  • Middle Aged
  • Molecular Sequence Data
  • Neoplasm Proteins / genetics*
  • Ovarian Neoplasms / genetics*
  • Transcription Factors / genetics*

Substances

  • BRCA2 Protein
  • Neoplasm Proteins
  • Transcription Factors