A novel BRCA2 mutation that segregates with breast and prostate cancer in a Spanish family

Breast Cancer Res Treat. 2010 May;121(1):219-20. doi: 10.1007/s10549-009-0361-x. Epub 2009 Mar 14.

Abstract

We report a novel germline 5369delATTT mutation in BRCA2 gene, detected in a 45-year-old woman with bilateral breast cancer. This deletion was also detected in her father with prostatic cancer and her sister with breast cancer. The mutation originates a premature stop at codon 1723 of BRCA2 protein and has not been documented in any published report to the best of our knowledge.

Publication types

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

MeSH terms

  • Base Sequence
  • Breast Neoplasms / genetics*
  • Female
  • Genes, BRCA2*
  • Genetic Predisposition to Disease*
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation
  • Ovarian Neoplasms / genetics
  • Pedigree
  • Prostatic Neoplasms / genetics*
  • Spain