Three primary malignancies related to BRCA mutation successively occurringin a BRCA1 185delAG mutation carrier

The 185delAG and 5382insC mutations in the BRCA1 gene and the 6174delT muta tion in the BRCA2 gene (the Ashkenazi mutations) have been found to be sign ificantly 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, ha ve a significantly increased lifetime risk of breast and ovarian carcinoma and other carcinomas as compared to non-carriers. A case of three primary m alignancies related to the BRCA1 185delAG mutation successively occurring i n a carrier of this mutation, is described. The patient successively develo ped breast carcinoma, ovarian micropapillary serous carcinoma and peritonea l papillary serous carcinoma. Immunohistochemical staining results have ind icated that these tumors are three separate primary malignancies. This. cas e illustrates that ovarian serous borderline tumors (including micropapilla ry serous carcinoma) and peritoneal papillary serous carcinomas should be c onsidered, like breast and ovarian carcinomas, tumors expressed in BRCA mut ation carriers. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.