應該對更多的女性進行BRCA突變評估

應該對更多的女性進行BRCA突變評估

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.

根據(jù)新的建議，應該對更多女性進行BRCA1和BRCA2基因有害突變的評估，這兩種基因會增加某些癌癥的風險。

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、輸卵管癌或腹膜癌家族史的女性被推薦進行有害BRCA1或BRCA2突變的評估。最后一次提出這一建議是在2013年，由美國預防服務工作組(US Preventive Services Task Force)提出的。該工作組是一個由全國專家組成的志愿小組，為初級保健社區(qū)提供有證據(jù)的建議。

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

在初級保健風險評估中取得陽性結果的婦女則建議接受遺傳咨詢，并可能接受突變基因檢測。

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

更新后的建議草案已于2月公布。周二，醫(yī)學雜志《美國醫(yī)學會雜志》(JAMA)發(fā)表了最終的建議聲明。

"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.

加州大學洛杉磯分校醫(yī)學和公共衛(wèi)生教授、美國預防服務工作組成員、初級保健醫(yī)生卡羅爾·曼吉奧內(nèi)博士說，“重要的是，女性要意識到，盡管乳腺癌是女性第二常見的癌癥，但這些突變實際上非常罕見。

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.

為了更新其建議聲明，USPSTF審查了一份證據(jù)報告，其中包括103項先前發(fā)表的關于風險評估工具的準確性、遺傳咨詢和檢測結果。

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.

《美國醫(yī)學會外科雜志》周二發(fā)表的一篇社論稱，USPSTF關于乳腺癌基因檢測和乳房x線攝影篩查的最新建議“容易受到批評，認為乳腺癌差異沒有得到充分解決”。

"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.

非西班牙裔黑人婦女乳腺癌死亡率高得不成比例，這是一個重大的公共健康問題。這篇社論的作者、紐約長老會/威爾康奈爾醫(yī)學中心的麗莎·紐曼博士寫道，在有依據(jù)的指導方針背景下解決這一差異具有挑戰(zhàn)性，因為最高水平的證據(jù)往往不足以解釋特定的“種族或少數(shù)族裔”的乳腺癌結果。

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.

據(jù)估計，德系猶太人后裔的婦女中這種突變的患病率約為2%，而來自其他人群的婦女中這一比例僅為0.1%。這就增加了這樣一種可能性，即需要進行全面檢測的患者可能會被陰性測試結果錯誤地確認不尋求進一步的評估，甚至臨床醫(yī)生可能錯誤地認為患者不需要轉診。

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

他們呼吁在評估一個人的家族史時考慮更多與乳腺癌相關的癌癥。