Gallion H H, Smith S A
Division of Gynecologic Oncology, University of Kentucky Medical Center, Lexington.
Semin Surg Oncol. 1994 Jul-Aug;10(4):249-54. doi: 10.1002/ssu.2980100404.
Ovarian cancer is the leading cause of death from gynecologic cancer in the United States. Although the etiology of ovarian cancer is unknown, a number of factors including advancing age, nulliparity and environmental factors have traditionally been related to risk. More recently, genetic predisposition has been recognized as a strong risk factor for ovarian cancer. Three distinct hereditary syndromes have been identified: (1) breast-ovarian cancer syndrome, (2) hereditary nonpolyposis colon cancer, and (3) site-specific ovarian cancer. The mode of inheritance in these families is autosomal dominant with transmission occurring through either the maternal or paternal line. The breast-ovarian and site-specific ovarian cancer family syndrome have been linked to a gene on chromosome 17q that is called BRCA1. However, no simple genetic test can identify women at high risk of the disease. For this reason, genetic counseling, education and surveillance with currently available screening techniques should be made available to women at high risk of ovarian cancer by virtue of their family history. In selected individuals, prophylactic oophorectomy may be warranted.
卵巢癌是美国妇科癌症死亡的主要原因。尽管卵巢癌的病因尚不清楚，但一些因素，包括年龄增长、未生育和环境因素，传统上一直被认为与发病风险有关。最近，遗传易感性已被确认为卵巢癌的一个重要风险因素。已确定了三种不同的遗传性综合征：（1）乳腺癌-卵巢癌综合征，（2）遗传性非息肉病性结直肠癌，以及（3）特定部位卵巢癌。这些家族的遗传模式为常染色体显性遗传，可通过母系或父系遗传。乳腺癌-卵巢癌和特定部位卵巢癌家族综合征与17号染色体上一个名为BRCA1的基因有关。然而，没有简单的基因检测能够识别出患该疾病风险高的女性。因此，对于因家族病史而患卵巢癌风险高的女性，应提供遗传咨询、教育以及使用现有筛查技术进行监测。对于部分个体，可能有必要进行预防性卵巢切除术。
