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

Background. Recently, a high incidence of BRCA1 cancer predisposing mutation was described among patients with Uterine Serous Papillary Carcinoma (USPC). A BRCA2 gemiline 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 matemal aunt who had breast carcinoma that was diagnosed at all 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 gemiline Mutation is all additional hint for the possible association between BRCA cancer predisposing mutations and USPC. (c) 2005 Elsevier Inc. All rights reserved.