Incidence of BRCA1/2 germ line alterations in a high risk cohort participating in a phase II chemoprevention trial

Eur J Cancer. 2000 Jun;36(10):1209-14. doi: 10.1016/s0959-8049(00)00112-x.

Abstract

It is unknown what proportion of women at high risk for breast cancer, entering phase II chemoprevention trials, have BRCA1/2 alterations, and whether their initial biomarker patterns or response to preventive interventions will differ between carriers and non-carriers. As part of a 6-month phase II chemoprevention trial of diflouromethlyornithine (DFMO), high-risk subjects (family history, prior precancerous breast disease or prior breast cancer), who had random peri-areolar fine needle evidence of epithelial hyperplasia with or without atypia, were offered genetic counselling and testing at the completion of their study participation. 97% of the 119 women eligible for testing underwent BRCA1/2 gene sequencing, 3 declined. 26 (22%) of the 116 women had an alteration in BRCA1/2. Known deleterious mutations were present in 3 (3%), uncertain significance mutations in 19 (16%), and probable polymorphisms in 6 (5%). There does not appear to be a difference in initial biomarker distribution between participants with and without germ line alterations.

Publication types

  • Clinical Trial
  • Clinical Trial, Phase II
  • Randomized Controlled Trial

MeSH terms

  • Adult
  • Antineoplastic Agents / therapeutic use*
  • BRCA2 Protein
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / prevention & control
  • Cohort Studies
  • Eflornithine / therapeutic use*
  • Female
  • Genes, BRCA1 / genetics*
  • Germ-Line Mutation / genetics*
  • Humans
  • Middle Aged
  • Neoplasm Proteins / genetics*
  • Pedigree
  • Risk Factors
  • Transcription Factors / genetics*

Substances

  • Antineoplastic Agents
  • BRCA2 Protein
  • Neoplasm Proteins
  • Transcription Factors
  • Eflornithine