易感基因BRCA1、BRCA2与遗传性卵巢癌

Susceptibility genes BRCA1,BRCA2 and genetic ovarian cancer

卵巢癌是妇科常见的恶性肿瘤之一,卵巢恶性上皮性肿瘤的死亡率在女性生殖系统肿瘤中占首位,严重威胁着女性的生命健康。遗传因素是造成卵巢癌发生的重要因素之一。国内外大量研究证实,遗传性卵巢癌的发生与肿瘤抑制基因BRCA1(乳腺癌易感基因1)、BRCA2(乳腺癌易感基因2)的突变有着明显的相关性。BRCA基因广泛表达的蛋白产物参与了细胞的很多基本生理过程,包括DNA的修复和重组、细胞周期的控制和转录。BRCA基因具有很高的突变率,其突变携带者患卵巢癌的风险明显高于普通群体。本文对BRCA1和BRCA2基因突变与遗传性卵巢癌的关系进行论述,以期为遗传性卵巢癌早期预防和筛查奠定临床基础。

Ovarian tumor is a common malignant tumor in gynecology. Its morality rate ranks the first among tumors in the female genital system. The mortality rate of ovarian malignant epithelial tumors ranks the frst in female reproductive system tumors, which is a serious threat to women’s life and health. The genetic factor is one of the most important factors in the morbidity of ovarian tumor. A large number of studies at home and abroad have confrmed that there is a signifcant correlation between the occurrence of genetic ovarian cancer and the mutation of the tumor suppressor gene BRCA1 （breast cancer susceptibility gene 1）、BRCA2 （breast cancer susceptibility gene 2）. Their ubiquitously expressed protein products are implicated in processes fundamental to all cells, including DNA repair and recombination, control of cell cycle, and transcription. The BRCA genes have a high mutation rate, and the risk of ovarian cancer in the mutant carriers is signifcantly higher than that in the general population. This paper discusses the relationship between susceptibility genes BRCA1, BRCA2 and hereditary ovarian cancer, in order to lay a foundation for early prevention and screening of ovarian tumor.