新的乳腺癌指南：更多的女性需要基因檢測

新的乳腺癌指南：更多的女性需要基因檢測

More women may benefit from gene testing for hereditary breast or ovarian cancer, especially if they’ve already survived cancer once, an influential health group recommended Tuesday.

一個有影響力的健康組織周二建議，更多的女性可能會從遺傳性乳腺癌或卵巢癌的基因檢測中受益，尤其是如果她們已經(jīng)從癌癥中重生過一次的話。

At issue are genes called BRCA1 and BRCA2. When they’re mutated, the body can’t repair damaged DNA as well, greatly increasing the chances of breast, ovarian and certain other cancers.

問題是被稱為BRCA1和BRCA2的基因。當(dāng)它們發(fā)生變異時，人體也無法修復(fù)受損的DNA，這大大增加了患乳腺癌、卵巢癌和某些其他癌癥的可能性。

Gene testing allows affected women to consider steps to lower their risk, such as when actress Angelina Jolie underwent a preventive mastectomy several years ago.

基因檢測可以讓受影響的女性考慮采取措施降低風(fēng)險，比如幾年前女演員安吉麗娜·朱莉接受了預(yù)防性乳房切除術(shù)。

Most cancer isn’t caused by BRCA mutations — they account for 5 percent to 10 percent of breast cancers and 15 percent of ovarian cancers — so the gene tests aren’t for everyone. But mutations cluster in families and the US Preventive Services Task Force has long recommended that doctors screen women who have relatives with BRCA-related cancers and refer those who might benefit from gene testing to a genetic counselor to help them decide.

大多數(shù)癌癥不是由BRCA突變引起的——它們占乳腺癌的5%到10%，卵巢癌的15%——所以基因測試不是針對每個人的。但是，家族和美國預(yù)防服務(wù)工作組，長期以來都建議醫(yī)生對有BRCA相關(guān)癌癥親屬的女性進(jìn)行篩查，并將那些可能從基因檢測中受益的女性推薦給基因咨詢師，以幫助她們做出決定。

Tuesday, the task force expanded that advice, telling primary care doctors they should also assess women’s risk if:

周二，工作組擴(kuò)大了這一建議，建議初級保健醫(yī)生，如果出現(xiàn)以下情況，他們還應(yīng)評估婦女的風(fēng)險：

• They previously were treated for breast or other BRCA-related cancers including ovarian, fallopian tube or peritoneal cancers and now are considered cancer-free.
• 以前曾治療過乳腺癌或其他與BRCA相關(guān)的癌癥，包括卵巢癌、輸卵管癌或腹膜癌，現(xiàn)在沒有癌癥的人群。
• Their ancestry is prone to BRCA mutations, such as Ashkenazi Jewish women.
• 祖先容易發(fā)生BRCA突變的女性，如德系猶太婦女。

Why screen breast cancer survivors? After all, they already know there’s a risk of recurrence.

為什么要篩查乳腺癌幸存者?畢竟，他們已經(jīng)知道有復(fù)發(fā)的風(fēng)險。

Take, for example, someone who had a tumor removed in one breast in their 40s a decade ago, when genetic testing wasn’t as common. Even this many years later, a BRCA test still could reveal if they’re at risk for ovarian cancer — or at higher than usual risk for another tumor in their remaining breast tissue, explained task force member Dr. Carol Mangione of the University of California, Los Angeles.

舉個例子，十年前，一個40多歲的人在一個乳房里切除了一個腫瘤，當(dāng)時基因檢測并不常見。即使這么多年過去了，BRCA檢測仍然可以揭示他們是否有患卵巢癌的風(fēng)險，或者在他們剩余的乳腺組織中患另一種腫瘤的風(fēng)險高于正常水平。

And it could alert their daughters or other relatives to a potential shared risk.

它可以提醒他們的女兒或其他親屬，是否有潛在的共同風(fēng)險。

“It’s important to test those people now,” Mangione said. “We need to get the word out to primary care doctors to do this assessment and to make the referrals.”

“現(xiàn)在對這些人進(jìn)行測試很重要，”Mangione說。“我們需要向初級保健醫(yī)生傳達(dá)這個信息，以便進(jìn)行評估和轉(zhuǎn)診。”

Private insurers follow task force recommendations on what preventive care to cover, some at no out-of-pocket cost under rules from former President Barack Obama’s health care law. The recommendations were published in the Journal of the American Medical Association.

根據(jù)美國前總統(tǒng)巴拉克•奧巴馬(Barack Obama)的醫(yī)療保健法，私人保險公司遵循特別工作組關(guān)于預(yù)防性醫(yī)療應(yīng)涵蓋哪些內(nèi)容的建議，有些公司無需自付費(fèi)用。這些建議發(fā)表在《美國醫(yī)學(xué)會雜志》上。

Cancer groups have similar recommendations for BRCA testing and increasingly urge that the newly diagnosed be tested, too, because the inherited risk can impact choices about surgery and other treatment.

癌癥組織對BRCA檢測也有類似的建議，并且越來越強(qiáng)烈地要求對新診斷的患者進(jìn)行檢測，因?yàn)檫z傳風(fēng)險會影響手術(shù)和其他治療的選擇。

Identifying BRCA mutation carriers “can be lifesaving and should be a part of routine medical care,” Drs. Susan Domchek of the University of Pennsylvania and Mark Robson of Memorial Sloan Kettering Cancer Center, who weren’t involved with the new guidelines, wrote in an editorial accompanying them.

賓夕法尼亞大學(xué)的Susan Domchek博士，和斯隆•凱特琳癌癥紀(jì)念中心的馬克•羅布森在一篇隨行的社論中寫道，識別BRCA突變攜帶者“可以挽救生命，應(yīng)該成為日常醫(yī)療保健的一部分”。

But too few high-risk women ever learn if they harbor BRCA mutations, they wrote. For example, cancer groups have long recommended that all ovarian cancer patients be tested, but several studies have found testing is done in less than a third.

但是很少有高風(fēng)險女性知道她們是否攜帶BRCA突變，例如，癌癥組織長期以來一直建議對所有卵巢癌患者進(jìn)行檢測，但幾項研究發(fā)現(xiàn)，進(jìn)行檢測的人數(shù)不到三分之一。

Don’t skip the genetic counseling, said the task force’s Mangione. BRCA testing can cause anxiety and sometimes gives confusing results, finding mutations that might not be dangerous — things the counselors are trained to interpret. There’s a shortage of genetic counselors, particularly in rural areas, and she said counseling by phone can work.

工作組的管理人員說，不要跳過遺傳咨詢。BRCA測試會引起焦慮，有時會產(chǎn)生令人困惑的結(jié)果，發(fā)現(xiàn)可能不危險的突變——這些突變是咨詢師經(jīng)過訓(xùn)練來解釋的。遺傳咨詢師短缺，尤其是在農(nóng)村地區(qū)，電話咨詢也是可行的。