Concomitant BRCA1 and BRCA2 gene mutations in an Ashkenazi Jewish Woman with primary breast and ovarian cancer

Whitney A. Spannuth, Premal H. Thaker, Anil K. Sood

Research output: Contribution to journalArticle

6 Scopus citations

Abstract

We describe an unusual Ashkenazi Jewish patient with breast and epithelial ovarian cancer who was found to have simultaneous BRCA1 and BRCA2 mutations (BRCA1 5382insC and BRCA2 6174delT). While these mutations are known to occur individually in Ashkenazi Jewish women, concomitant BRCA1 and BRCA2 mutations in the same individual are rare.

Original languageEnglish
Pages (from-to)e6-e9
JournalAmerican journal of obstetrics and gynecology
Volume196
Issue number4
DOIs
StatePublished - Apr 1 2007
Externally publishedYes

Keywords

  • Ashkenazi Jewish female
  • BRCA mutation
  • ovarian carcinoma

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