关键词: BRCA 1 BRCA 2 breast neoplasms contraceptives endometrial neoplasms genes genetic predisposition to disease germ-line mutation hysterectomy oral ovarian neoplasms salpingo-oophorectomy BRCA 1 BRCA 2 breast neoplasms contraceptives endometrial neoplasms genes genetic predisposition to disease germ-line mutation hysterectomy oral ovarian neoplasms salpingo-oophorectomy

Mesh : BRCA1 Protein / genetics Breast Neoplasms / genetics Female Genes, BRCA1 Genes, BRCA2 Humans Mutation Ovarian Neoplasms / genetics

来  源:   DOI:10.3390/curroncol29030172

Abstract:
Ovarian cancer (OC) is the leading cause of death among women with gynecologic malignancy. Breast Cancer Susceptibility Gene 1 (BRCA 1) and Breast Cancer Susceptibility Gene 2 (BRCA 2) germline mutations confer an estimated 20 to 40 times increased risk of OC when compared to the general population. The majority of BRCA-associated OC is identified in the late stage, and no effective screening method has been proven to reduce mortality. Several pharmacologic and surgical options exist for risk-reduction of gynecologic malignancy in BRCA 1/2 mutation carriers. This review summarizes up-to-date research on pharmacologic risk-reducing interventions, including the oral contraceptive pill, acetylsalicylic acid/nonsteroidal anti inflammatory drugs (ASA/NSAID) therapy, and denosumab, and surgical risk-reducing interventions, including risk-reducing bilateral salpingo-oophorectomy, salpingectomy with delayed oophorectomy, and hysterectomy at the time of risk-reducing bilateral salpingo-oophorectomy.
摘要:
卵巢癌(OC)是妇科恶性肿瘤女性死亡的主要原因。与普通人群相比,乳腺癌易感性基因1(BRCA1)和乳腺癌易感性基因2(BRCA2)种系突变使OC的风险增加了20至40倍。大多数与BRCA相关的OC是在后期确定的,没有有效的筛查方法被证明可以降低死亡率。在BRCA1/2突变携带者中,存在几种降低妇科恶性肿瘤风险的药物和手术选择。这篇综述总结了关于降低药物风险干预措施的最新研究,包括口服避孕药,乙酰水杨酸/非甾体抗炎药(ASA/NSAID)治疗,还有denosumab,和降低手术风险的干预措施,包括降低风险的双侧输卵管卵巢切除术,输卵管切除术与延迟卵巢切除术,在降低风险的双侧输卵管卵巢切除术时进行子宫切除术。
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