Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer

Hum Genet. 1995 May;95(5):539-44. doi: 10.1007/BF00223866.

Abstract

We searched for criteria that could indicate breast cancer families with a high prior probability of being caused by the breast/ovarian cancer susceptibility locus BRCA1 on chromosome 17. To this end, we performed a linkage study with 59 consecutively collected Dutch breast cancer families, including 16 with at least one case of ovarian cancer. We used an intake cut-off of at least three first-degree relatives with breast and/or ovarian cancer at any age. Significant evidence for linkage was found only among the 13 breast cancer families with a mean age at diagnosis of less than 45 years. An unexpectedly low proportion of the breast-ovarian cancer families were estimated to be linked to BRCA1, which could be due to a founder effect in the Dutch population. Given the expected logistical problems in clinical management now that BRCA1 has been identified, we propose an interim period in which only families with a strong positive family history for early onset breast and/or ovarian cancer will be offered BRCA1 mutation testing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • BRCA1 Protein
  • Breast Neoplasms / diagnosis*
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • Breast Neoplasms, Male / epidemiology
  • Breast Neoplasms, Male / genetics
  • Chromosomes, Human, Pair 17
  • DNA Mutational Analysis
  • DNA, Neoplasm / analysis*
  • Female
  • Genetic Linkage / genetics*
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Neoplasm Proteins / genetics*
  • Netherlands / epidemiology
  • Ovarian Neoplasms / epidemiology
  • Ovarian Neoplasms / genetics
  • Pedigree
  • Transcription Factors / genetics*

Substances

  • BRCA1 Protein
  • DNA, Neoplasm
  • Neoplasm Proteins
  • Transcription Factors