新的乳腺癌指南：更多的女性需要基因检测

新的乳腺癌指南：更多的女性需要基因检测

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.

一个有影响力的健康组织周二建议，更多的女性可能会从遗传性乳腺癌或卵巢癌的基因检测中受益，尤其是如果她们已经从癌症中重生过一次的话。

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.

问题是被称为BRCA1和BRCA2的基因。当它们发生变异时，人体也无法修复受损的DNA，这大大增加了患乳腺癌、卵巢癌和某些其他癌症的可能性。

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.

基因检测可以让受影响的女性考虑采取措施降低风险，比如几年前女演员安吉丽娜·朱莉接受了预防性乳房切除术。

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.

大多数癌症不是由BRCA突变引起的——它们占乳腺癌的5%到10%，卵巢癌的15%——所以基因测试不是针对每个人的。但是，家族和美国预防服务工作组，长期以来都建议医生对有BRCA相关癌症亲属的女性进行筛查，并将那些可能从基因检测中受益的女性推荐给基因咨询师，以帮助她们做出决定。

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

周二，工作组扩大了这一建议，建议初级保健医生，如果出现以下情况，他们还应评估妇女的风险：

• They previously were treated for breast or other BRCA-related cancers including ovarian, fallopian tube or peritoneal cancers and now are considered cancer-free.
• 以前曾治疗过乳腺癌或其他与BRCA相关的癌症，包括卵巢癌、输卵管癌或腹膜癌，现在没有癌症的人群。
• Their ancestry is prone to BRCA mutations, such as Ashkenazi Jewish women.
• 祖先容易发生BRCA突变的女性，如德系犹太妇女。

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

为什么要筛查乳腺癌幸存者?毕竟，他们已经知道有复发的风险。

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.

举个例子，十年前，一个40多岁的人在一个乳房里切除了一个肿瘤，当时基因检测并不常见。即使这么多年过去了，BRCA检测仍然可以揭示他们是否有患卵巢癌的风险，或者在他们剩余的乳腺组织中患另一种肿瘤的风险高于正常水平。

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

它可以提醒他们的女儿或其他亲属，是否有潜在的共同风险。

“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.”

“现在对这些人进行测试很重要，”Mangione说。“我们需要向初级保健医生传达这个信息，以便进行评估和转诊。”

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.

根据美国前总统巴拉克•奥巴马(Barack Obama)的医疗保健法，私人保险公司遵循特别工作组关于预防性医疗应涵盖哪些内容的建议，有些公司无需自付费用。这些建议发表在《美国医学会杂志》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.

癌症组织对BRCA检测也有类似的建议，并且越来越强烈地要求对新诊断的患者进行检测，因为遗传风险会影响手术和其他治疗的选择。

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.

宾夕法尼亚大学的Susan Domchek博士，和斯隆•凯特琳癌症纪念中心的马克•罗布森在一篇随行的社论中写道，识别BRCA突变携带者“可以挽救生命，应该成为日常医疗保健的一部分”。

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.

但是很少有高风险女性知道她们是否携带BRCA突变，例如，癌症组织长期以来一直建议对所有卵巢癌患者进行检测，但几项研究发现，进行检测的人数不到三分之一。

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.

工作组的管理人员说，不要跳过遗传咨询。BRCA测试会引起焦虑，有时会产生令人困惑的结果，发现可能不危险的突变——这些突变是咨询师经过训练来解释的。遗传咨询师短缺，尤其是在农村地区，电话咨询也是可行的。