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 germline mutation in a USPC patient has never been reported.


METHODS
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.
Lavie
Ofer
O
Division of Gynecological Oncology, Carmel Medical Center, 7 Michal Street, Haifa 34362, Israel. olavie@zahav.net.il
Ben-Arie
Alon
A
Pilip
Adalbert
A
Rennert
Gad
G
Cohen
Yoram
Y
Feiner
Beni
B
Auslnader
Ron
R
D000368:Aged; D003131:Combined Modality Therapy; D018283:Cystadenocarcinoma, Papillary / Q000188:drug therapy / Q000235:genetics* / Q000601:surgery; D018284:Cystadenocarcinoma, Serous / Q000188:drug therapy / Q000235:genetics* / Q000601:surgery; D005260:Female; D024522:Genes, BRCA2; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D007585:Jews / Q000235:genetics; D014594:Uterine Neoplasms / Q000188:drug therapy / Q000235:genetics* / Q000601:surgery