A novel BRCA1 mutation in a Spanish patient with ovarian cancer

Breast Cancer Res Treat. 2009 Jan;113(1):71-3. doi: 10.1007/s10549-008-9907-6. Epub 2008 Feb 17.

Abstract

We report a novel germline 3536delT mutation in BRCA1 gene, detected in a 43-year-old woman with bilateral ovarian adenocarcinoma. The mutation originates a premature stop codon at position 1154 and has not been documented in any published report to the best of our knowledge.

Publication types

  • Case Reports

MeSH terms

  • Adenocarcinoma / genetics*
  • Adult
  • Female
  • Genes, BRCA1*
  • Germ-Line Mutation*
  • Humans
  • Male
  • Ovarian Neoplasms / genetics*
  • Pedigree
  • Spain