Repetitive demand for radical cancer risk reduction surgery in a young BRCA1 mutation carrier with strong family history of BRCA linked malignancies

Ginekol Pol. 2006 Jul;77(7):543-9.

Abstract

It is known that BRCA genes play central roles in hereditary breast and ovarian cancers. BRCA1 mutation carriers face a cumulative lifetime risk of ovarian and breast cancer development. We report on a case of a strong family prevalence of BRCA1 linked malignancies as an immense psychological encumbrance and reason of demand for radical prophylactic risk decreasing surgeries in a 29 year-old healthy woman with proved 3889delAG BRCA1 gene mutation on exon 11, codon 1265 in effort to prevent possible malignant changes in the ovaries and the breast. Problems regarding the management of asymptomatic BRCA mutation carriers, time and impact of early prophylactic surgery in young women are discussed with a review of recent literature.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Female
  • Genes, BRCA1*
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Humans
  • Mutation*
  • Ovarian Neoplasms / genetics*
  • Ovarian Neoplasms / prevention & control
  • Pedigree