BRCA2 germline mutation in a woman with uterine serous papillary carcinoma - Case report

Ofer Lavie, Alon Ben-Arie, Adalbert Pilip, Gad Rennert, Yoram Cohen, Beni Feiner, Ron Auslnader

Research output: Contribution to journalArticlepeer-review

23 Scopus citations

Abstract

Background. Recently, a high incidence of BRCA1 cancer predisposing mutation was described among patients with Uterine Serous Papillary Carcinoma (USPC). A BRCA2 germline mutation in a USPC patient has never been reported. Case. A 65-year-old Ashkenazi Jewish woman was diagnosed with USPC Stage III A. The patient family history included a mother with ovarian carcinoma, a maternal aunt who had breast carcinoma that was diagnosed at an early age, an additional maternal aunt who suffered from gastric carcinoma, and the patient's sister who had duodenal carcinoma. The patient was found to be a carrier of the germline BRCA2 cancer predisposing mutation (6174delT). Conclusions. We report the first case of a BRCA2 mutation in a USPC patient. A strong family history of breast and ovarian cancer with the presence of the BRCA2 germline mutation is an additional hint for the possible association between BRCA cancer predisposing mutations and USPC.

Original languageEnglish
Pages (from-to)486-488
Number of pages3
JournalGynecologic Oncology
Volume99
Issue number2
DOIs
StatePublished - 1 Nov 2005
Externally publishedYes

Keywords

  • BRCA-2
  • Carcinoma
  • Endometrium

ASJC Scopus subject areas

  • Oncology
  • Obstetrics and Gynecology

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