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

Background: Germline BRCA1 mutations of sporadic ovarian cancers are presumed to be rare events, except among specific populations. To date, the status of germline BRCA1 mutations in Taiwanese with primary epithelial ovarian carcinoma (PEOC) is still unknown. In this study, we tried to answer part of this question. Methods: Sixty-four patients documented with PEOC, four patients with family history of breast and/or ovary cancer syndrome and five patients with sporadic primary serous peritoneal carcinoma (PSPC) were enrolled in this retrospective study from January 1994 through June 1999. At the same time, 50 normal healthy Taiwanese without family history were enrolled in this study. Germline DNA from these patients was screened for mutations in the BRCA1 gene using polymerase chain reaction-based single-stranded conformation polymorphism analysis (PCR-SSCP). Shifting DNA bands were sequenced. Results: One of the 64 patients with PEOC (1.6%) exhibited germline BRCA1 heterozygous mutation which was exon11 single-base substitution at nucleotide1047 (CAG to TAG). One of the five patients with PSPC (20%) exhibited an exon11 single-base substitution at nucleotide 914 (TCT to TCC) with resultant silent mutation. One of the normal healthy Taiwanese (2%) was found to have an exon 2 single-base substitution at nucleotide 152 (A-->C) which was also a silent mutation. No mutations of BRCA1 were detected in four patients with a family history of breast and/or ovarian cancer. Conclusions: Based on this study, it was very difficult to obtain precise data to prove the value of applying genetic testing of BRCA1 mutations in Taiwanese patients with sporadic epithelial ovarian cancers or sporadic PSPC and even with a family history of breast and/or ovarian cancer because of its rare event and because of the too small number of cases available in this study.