title: Mixed ovarian germ cell tumor in a BRCA2 mutation carrier.
abstract: BRCA2 germ-line mutations confer an increased risk of developing breast and ovarian cancer. We report the occurrence of a mixed ovarian germ cell tumor (GCT) (50% embryonal carcinoma, 20%-25% choriocarcinoma, 10%-15% dysgerminoma, and 10%-15% immature teratoma) in a 33-year-old Ashkenazi Jewish woman, carrier of the BRCA2:6174delT mutation. The mutation is also present in the patient's father, who was diagnosed with breast cancer at age 59 and with prostate cancer at age 69. This is the first report of a GCT in a BRCA2 mutation carrier; there was one previous report of an ovarian dysgerminoma in a BRCA1 carrier. Molecular analysis of the proband's tumor DNA revealed there was no loss of heterozygosity of the wild-type allele in the tumor, as is usually the case for epithelial BRCA-related ovarian tumors. This suggests either that biallelic inactivation of BRCA2 is not required for GCT development or that this is a chance event unrelated to the presence of the mutation.
authors.affiliation: Department of Human Genetics and Medicine, SMBD-Jewish General Hospital, McGill University, Montreal, Quebec, Canada.
authors.forename: Nancy
authors.initials: N
authors.lastname: Hamel
authors.forename: Nora
authors.initials: N
authors.lastname: Wong
authors.forename: Lesley
authors.initials: L
authors.lastname: Alpert
authors.forename: Maria
authors.initials: M
authors.lastname: Galvez
authors.forename: William D
authors.initials: WD
authors.lastname: Foulkes
mesh_terms: D000328:Adult; D024682:BRCA2 Protein / Q000235:genetics*; D018236:Carcinoma, Embryonal / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D002822:Choriocarcinoma / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D004407:Dysgerminoma / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D005260:Female; D024522:Genes, BRCA2; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D007585:Jews / Q000235:genetics; D019656:Loss of Heterozygosity / Q000235:genetics; D008297:Male; D009373:Neoplasms, Germ Cell and Embryonal / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D010051:Ovarian Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D013724:Teratoma / Q000175:diagnosis / Q000235:genetics / Q000473:pathology
chemical_list: D024682:BRCA2 Protein