应该对更多的女性进行BRCA突变评估

应该对更多的女性进行BRCA突变评估

More women should be assessed for harmful mutations in the BRCA1 and BRCA2 genes that can increase risk of certain cancers, according to new recommendations.

根据新的建议，应该对更多女性进行BRCA1和BRCA2基因有害突变的评估，这两种基因会增加某些癌症的风险。

Previously, it was recommended for women who have a family history of breast, ovarian, tubal or peritoneal cancer to be assessed for harmful BRCA1 or BRCA2 mutations. That recommendation was last made in 2013 by the US Preventive Services Task Force, a volunteer panel of national experts that makes evidence-based recommendations for the primary care community.

此前，有乳腺癌、卵巢癌、输卵管癌或腹膜癌家族史的女性被推荐进行有害BRCA1或BRCA2突变的评估。最后一次提出这一建议是在2013年，由美国预防服务工作组(US Preventive Services Task Force)提出的。该工作组是一个由全国专家组成的志愿小组，为初级保健社区提供有证据的建议。

Women with positive results on the primary care risk assessment are then recommended to receive genetic counseling and possibly genetic testing for the mutations.

在初级保健风险评估中取得阳性结果的妇女则建议接受遗传咨询，并可能接受突变基因检测。

A draft of the updated recommendation was released in February. The final updated recommendation statement published in the medical journal JAMA on Tuesday.

更新后的建议草案已于2月公布。周二，医学杂志《美国医学会杂志》(JAMA)发表了最终的建议声明。

"It's important for women to realize that, even though breast cancer is the second-most common cancer in women, that these mutations are actually pretty rare," said Dr. Carol Mangione, a primary care physician and a professor of medicine and public health at the University of California, Los Angeles, who is a member of the US Preventive Services Task Force.

加州大学洛杉矶分校医学和公共卫生教授、美国预防服务工作组成员、初级保健医生卡罗尔·曼吉奥内博士说，“重要的是，女性要意识到，尽管乳腺癌是女性第二常见的癌症，但这些突变实际上非常罕见。

To update its recommendation statement, the USPSTF reviewed an evidence report that included 103 previously published studies on the accuracy of risk assessment tools, outcomes of genetic counseling and testing.

为了更新其建议声明，USPSTF审查了一份证据报告，其中包括103项先前发表的关于风险评估工具的准确性、遗传咨询和检测结果。

The updated USPSTF recommendation on BRCA genetic testing, as well as mammographic screening, "are vulnerable to criticism that breast cancer disparities are inadequately addressed," according to an editorial that published in the journal JAMA Surgery on Tuesday.

《美国医学会外科杂志》周二发表的一篇社论称，USPSTF关于乳腺癌基因检测和乳房x线摄影筛查的最新建议“容易受到批评，认为乳腺癌差异没有得到充分解决”。

"Disproportionately high breast cancer mortality rates in non-Hispanic black women represent a major public health problem. Addressing this disparity in the context of evidence-based guidelines is challenging because the highest-level evidence is often insufficient to account for breast cancer outcomes specific to" racial or ethnic minorities, wrote the editorial's author, Dr. Lisa Newman of New York-Presbyterian/Weill Cornell Medical Center.

非西班牙裔黑人妇女乳腺癌死亡率高得不成比例，这是一个重大的公共健康问题。这篇社论的作者、纽约长老会/威尔康奈尔医学中心的丽莎·纽曼博士写道，在有依据的指导方针背景下解决这一差异具有挑战性，因为最高水平的证据往往不足以解释特定的“种族或少数族裔”的乳腺癌结果。

The prevalence of such a mutation is estimated to be about 2% for women of Ashkenazi Jewish heritage but only 0.1% in women from other populations. This raises the possibility that a patient for whom comprehensive testing is warranted might be falsely assured by a negative test result and not seek further evaluation, or even that a clinician might wrongly assume that the patient does not require referral.

据估计，德系犹太人后裔的妇女中这种突变的患病率约为2%，而来自其他人群的妇女中这一比例仅为0.1%。这就增加了这样一种可能性，即需要进行全面检测的患者可能会被阴性测试结果错误地确认不寻求进一步的评估，甚至临床医生可能错误地认为患者不需要转诊。

They called for additional BRCA-related cancers to be considered when evaluating a person's family history .

他们呼吁在评估一个人的家族史时考虑更多与乳腺癌相关的癌症。