遗传性卵巢癌基因筛查及家族成员管理研究进展

卵巢癌是发生率居于全球女性第三位、死亡率居于首位的妇科恶性肿瘤，其中10%~15%由胚系突变导致，称为遗传性卵巢癌（hereditary ovarian cancer）。遗传性卵巢癌是一种常染色体显性遗传病，它的发生与BRCA1/2等基因突变有关。对家族中的先证者进行基因检测，识别卵巢癌易感基因胚系突变，鉴定遗传性卵巢癌，可以使患者受益于个性化治疗，同时提示家庭成员进行基因筛查，以找出家族中高危致病基因突变的携带者，对携带者实施肿瘤的早期监测和干预。这对于降低疾病发病率和死亡率，改善长期预后有重要临床意义。本文总结现有文献，并就遗传性卵巢癌家族成员基因筛查中的主要基因相关临床意义和管理策略进行综述。

Progress on gene screening for hereditary ovarian cancer and family member management

Ovarian cancer has the third incidence rate and the highest mortality rate among gynecological malignant tumor.10%~15% of ovarian cancer caused by germline mutation is called hereditary ovarian cancer.Hereditary ovarian cancer is an autosomal dominant hereditary disease,which is associated with BRCA1/2 gene mutations.Genetic testing of the proband in the family to identify germline mutations in the ovarian cancer susceptibility gene and hereditary ovarian cancer can benefit patients from personalized treatment.Meanwhile,it is suggested that family members should carry out genetic screening to identify who are the carriers of high-risk mutations.Early monitoring and early intervention should be implemented to reduce incidence rate and mortality rate and improve long-term mortality and prognosis,which has important clinical significance.This paper summarizes the existing literature,and sums up clinical significance of major genes in gene screening and management strategies of hereditary ovarian cancer family members.