Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: US Preventive Services Task Force Recommendation Statement
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: US Preventive Services Task Force Recommendation Statement
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DOI：
10.7326/m13-2747
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发表时间：
2014-02-18
影响因子：
39.2
通讯作者：
Moyer, Virginia A.
中科院分区：
文献类型：
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作者：
Moyer, Virginia A.
描述：更新了2005年美国预防服务工作组(USPSTF)关于乳腺癌和卵巢癌易感性的遗传风险评估和BRCA突变检测的建议。方法：USPSTF回顾了关于无症状、有乳腺癌或卵巢癌家族史、但没有癌症个人病史或家族中已知的潜在有害BRCA突变的女性的风险评估、遗传咨询和基因检测的证据。USPSTF还回顾了旨在降低具有潜在有害BRCA突变的女性患BRCA相关癌症风险的干预措施，包括强化癌症筛查、药物治疗和降低风险的手术。人口：这一建议适用于未被诊断为BRCA相关癌症的无症状女性。建议：USPSTF建议初级保健提供者使用几种筛查工具中的一种来筛查有家庭成员患有乳腺癌、卵巢癌、输卵管癌或腹膜癌的女性，这些筛查工具旨在确定可能与乳腺癌易感基因(BRCA1或BRCA2)潜在有害突变风险增加相关的家族史。筛查结果呈阳性的妇女应该接受遗传咨询，如果咨询后有迹象表明，还应该进行BRCA测试。(B建议)USPSTF建议不要对家族史与BRCA1或BRCA2基因潜在有害突变风险增加无关的女性进行常规遗传咨询或BRCA测试。(D)建议)
Description: Update of the 2005 U.S. Preventive Services Task Force (USPSTF) recommendation on genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility.Methods: The USPSTF reviewed the evidence on risk assessment, genetic counseling, and genetic testing for potentially harmful BRCA mutations in asymptomatic women with a family history of breast or ovarian cancer but no personal history of cancer or known potentially harmful BRCA mutations in the family. The USPSTF also reviewed interventions aimed at reducing the risk for BRCA-related cancer in women with potentially harmful BRCA mutations, including intensive cancer screening, medications, and risk-reducing surgery.Population: This recommendation applies to asymptomatic women who have not been diagnosed with BRCA-related cancer.Recommendation: The USPSTF recommends that primary care providers screen women who have family members with breast, ovarian, tubal, or peritoneal cancer with 1 of several screening tools designed to identify a family history that may be associated with an increased risk for potentially harmful mutations in breast cancer susceptibility genes (BRCA1 or BRCA2). Women with positive, screening results should receive genetic counseling and, if indicated after counseling, BRCA testing. (B recommendation)The USPSTF recommends against routine genetic counseling or BRCA testing for women whose family history is not associated with an increased risk for potentially harmful mutations in the BRCA1 or BRCA2 genes. (D recommendation)