Ann Intern Med. 2014 Feb 18;160(4):271-81. doi: 10.7326/M13-2747.
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.
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.
This recommendation applies to asymptomatic women who have not been diagnosed with BRCA-related cancer.
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).
对 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 基因突变检测的建议进行更新。
USPSTF 审查了关于风险评估、遗传咨询和针对具有家族性乳腺癌或卵巢癌病史但无个人癌症史或家族中已知潜在有害 BRCA 突变的无症状女性的潜在有害 BRCA 突变进行基因检测的证据。USPSTF 还审查了旨在降低具有潜在有害 BRCA 突变的女性发生 BRCA 相关癌症风险的干预措施，包括强化癌症筛查、药物和降低风险的手术。
本建议适用于尚未诊断出 BRCA 相关癌症的无症状女性。
USPSTF 建议初级保健提供者使用旨在识别可能与乳腺癌易感基因（BRCA1 或 BRCA2）中潜在有害突变相关的家族史的几种筛查工具之一，对有乳腺癌、卵巢癌、输卵管癌或腹膜癌家族史的女性进行筛查。筛查结果阳性的女性应接受遗传咨询，如果咨询后有必要，应进行 BRCA 检测。（B 级推荐）USPSTF 建议对家族史与 BRCA1 或 BRCA2 基因中潜在有害突变增加风险无关的女性不进行常规遗传咨询或 BRCA 检测。（D 级推荐）。
