卵巢癌组织中乳腺癌易感基因突变及其临床意义

Mutation of Breast Cancer Susceptibility Gene in Ovarian Cancer and Its Clinical Significance

目的检测卵巢癌组织中乳腺癌易感基因（ＢＲＣＡ１）突变，探讨其与遗传性卵巢癌的关系。方法应用聚合酶链反应单链构象多态性分析（ＰＣＲＳＳＣＰ）及非同位素银染技术，检测４例遗传性卵巢癌及３１例散发性卵巢癌ＢＲＣＡ１基因突变。结果在３例遗传性乳腺癌卵巢癌综合征（ＨＢＯＣ）患者中２例ＢＲＣＡ１基因突变，分别位于外显子２和２１。３１例散发性卵巢癌和１例遗传性位点特异性卵巢癌中未检出ＢＲＣＡ１基因突变。结论ＢＲＣＡ１基因突变可能与ＨＢＯＣ的发病关系密切。ＢＲＣＡ１基因突变的检测有助于诊断ＨＢＯＣ。

Objective To detect breast cancer susceptibility gene (BRCA1) mutation in ovarian cancer and to look for correlations between BRCA1 mutation and hereditary ovrian 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.