遗传性卵巢癌综合征相关易感基因的研究进展

Susceptibility Genes of Hereditary Ovarian Cancer Syndrome

卵巢癌是妇科常见的三大恶性肿瘤之一，病死率居妇科肿瘤的首位。由于缺乏敏感度和特异度高的早期筛查手段，多数患者（60%∽65%）诊断时已为晚期。在卵巢癌中遗传性卵巢癌综合征（HOCS）占有一定的比例， HOCS的发生常与易感基因的突变有关。目前至少有16个基因已被确定与HOCS有关，其中乳腺癌易感基因1（BRCA1）和BRCA2的突变与HOCS关系最为密切，而限制性内切酶位点相关DNA（RAD51C）、RAD51D和BRCA1相关的羧基端解旋酶基因1（BRIP1）为近期新发现的与HOCS相关的3个基因，对相关易感基因突变进行检测并对高危人群进行监测可能成为早期卵巢癌诊断的有效手段。综述HOCS相关的易感基因。

Ovarian cancer is one of the three common gynecological malignancy with a highest mortality rate. Due to the absence of specific symptoms and the lack of sensitive screening for the early detection of ovarian cancer ,the majority of patients （60%-65%） had advanced stage at diagnosis. In ovarian cancer,hereditary ovarian cancer syndrome （HOCS） occupy a certain proportion. HOCS often associated with the occurrence of mutations in susceptibility genes. There are at least 16 genes implicated in HOCS to date. HOCS was attributed mostly to mutations in BRCA1 and BRCA2. Recently,three new ovarian cancer susceptibility genes have been identified：RAD51C,RAD51D,and BRIP1. Detection of related susc eptibility genes may contributes to the early diagnosis of ovarian cancer risk groups. This article is about the related susceptibility genes of HOCS.