[Mutation of breast cancer susceptibility gene in ovarian cancer and its clinical significance].
OBJECTIVE: To detect breast cancer susceptibility gene (BRCA1) mutation in ovarian cancer and to look for correlations between BRCA1 mutation and hereditary ovarian cancer. METHODS: Mutation of BRCA1 gene in 4 patients with hereditary ovarian cancer and 31 patients with sporadic ovarian cancer were screened by polymerase chain reaction-single strand conformation polymorphism analysis with non-isotopic silver staining method. RESULTS: 2 mutations of BRCA1 gene were found in 2 of 3 patients belonged to hereditary breast-ovarian cancer syndrom (HBOC) which were located in exon 2 and 21 respectively. No mutation was found in 31 cases of sporadic ovarian cancer and 1 case of hereditary site-specific ovarian cancer. CONCLUSION: BRCA1 mutation was probably closely related to hereditary breast-ovarian cancer syndrome. Detection of BRCA1 gene mutation was helpful to diagnose HBOC families.