[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.


CONCLUSIONS
BRCA1 mutation was probably closely related to hereditary breast-ovarian cancer syndrome. Detection of BRCA1 gene mutation was helpful to diagnose HBOC families.
Shi
H
H
First Affiliated Hospital of Henan Medical University, Zhengzhou.
You
Z
Z
Guo
Y
Y
D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics*; D018269:Carcinoma, Endometrioid / Q000235:genetics; D018284:Cystadenocarcinoma, Serous / Q000235:genetics; D005192:Family Health; D005260:Female; D019398:Genes, BRCA1; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D016609:Neoplasms, Second Primary / Q000235:genetics; D010051:Ovarian Neoplasms / Q000235:genetics*