BRCA1 mutations in Taiwanese with epithelial ovarian carcinoma and sporadic primary serous peritoneal carcinoma

Background: Germline BRCA1 mutations of sporadic ovarian cancers are presum ed to be rare events, except among specific populations. To date, the statu s of germline BRCA1 mutations in Taiwanese with primary epithelial ovarian carcinoma (PEOC) is still unknown. In this study, we tried to answer part o f this question. Methods: Sixty-four patients documented with PEOC, four patients with famil y history of breast and/or ovary cancer syndrome and five patients with spo radic primary serous peritoneal carcinoma (PSPC) were enrolled in this retr ospective study from January 1994 through June 1999. At the same time, 50 n ormal healthy Taiwanese without family history were enrolled in this study. Germline DNA from these patients was screened for mutations in the BRCA1 g ene using polymerase chain reaction-based single-stranded conformation poly morphism analysis (PCR-SSCP). Shifting DNA bands were sequenced. Results: One of the 64 patients with PEOC (1.6%) exhibited germline BRCA1 h eterozygous mutation which was exon11 single-base substitution at nucleotid e1047 (CAG to TAG). One of the five patients with PSPC (20%) exhibited an e xon11 single-base substitution at nucleotide 914 (TCT to TCC) with resultan t silent mutation. One of the normal healthy Taiwanese (2%) was found to ha ve an exon 2 single-base substitution at nucleotide 152 (A-->C) which was a lso a silent mutation. No mutations of BRCA 1 were detected in four patient s with a family history of breast and/or ovarian cancer. Conclusions: Based on this study, it was very difficult to obtain precise d ata to prove the value of applying genetic testing of BRCA1 mutations in Ta iwanese patients with sporadic epithelial ovarian cancers or sporadic PSPC and even with a family history of breast and/or ovarian cancer because of i ts rare event and because of the too small number of cases available in thi s study.