title: Three primary malignancies related to BRCA mutation successively occurring in a BRCA1 185delAG mutation carrier.
abstract: The 185delAG and 5382insC mutations in the BRCA1 gene and the 6174delT mutation in the BRCA2 gene (the Ashkenazi mutations) have been found to be significantly more common among Jews of eastern European ancestry (1 in 40, 2.5%) in comparison to the general population (1 in 800 to 1 in 300, 0.12-0.33%). Carriers of these mutations, especially the BRCA1 185delAG mutation, have a significantly increased lifetime risk of breast and ovarian carcinoma and other carcinomas as compared to non-carriers. A case of three primary malignancies related to the BRCA1 185delAG mutation successively occurring in a carrier of this mutation, is described. The patient successively developed breast carcinoma, ovarian micropapillary serous carcinoma and peritoneal papillary serous carcinoma. Immunohistochemical staining results have indicated that these tumors are three separate primary malignancies. This case illustrates that ovarian serous borderline tumors (including micropapillary serous carcinoma) and peritoneal papillary serous carcinomas should be considered, like breast and ovarian carcinomas, tumors expressed in BRCA mutation carriers.
authors.affiliation: Unit of Gynecologic Oncology, Department of Obstetrics and Gynecology, Soroka Medical Center and Faculty of Health Sciences, Ben-Gurion University of the Negev, P.O. Box 151, 84101, Beer-Sheva, Israel. piura@bgumail.bgu.ac.il
authors.forename: B
authors.initials: B
authors.lastname: Piura
authors.forename: A
authors.initials: A
authors.lastname: Rabinovich
authors.forename: I
authors.initials: I
authors.lastname: Yanai-Inbar
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D018394:CA-125 Antigen / Q000097:blood; D018270:Carcinoma, Ductal, Breast / Q000235:genetics / Q000473:pathology / Q000628:therapy; D002886:Chromosomes, Human, Pair 17; D018283:Cystadenocarcinoma, Papillary / Q000235:genetics / Q000473:pathology / Q000628:therapy; D005061:Europe, Eastern / Q000208:ethnology; D005187:Fallopian Tubes / Q000601:surgery; D005260:Female; D017353:Gene Deletion; D019398:Genes, BRCA1 / Q000235:genetics*; D006801:Humans; D007585:Jews; D008197:Lymph Node Excision; D008207:Lymphatic Metastasis / Q000235:genetics; D015412:Mastectomy, Segmental; D008875:Middle Aged; D009154:Mutation; D009378:Neoplasms, Multiple Primary / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D010052:Ovariectomy; D010534:Peritoneal Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D017698:Postmenopause
chemical_list: D018394:CA-125 Antigen