More than 80% of people with cancer risk genes don"t know it, study warns
研究警告說，超過80%的癌症風險基因患者並不知道這一點
▌ 部分素材來源於《每日郵報》，世界播團隊翻譯
Eight out of every 10 people that have genes that raise their risks for breast, pancreatic, ovarian and prostate cancers do not know it, a new study reveals.
一項新的研究表明，每10個人中就有8個人的基因會增加患乳腺癌、胰腺癌、卵巢癌和攝護腺癌的風險。
Mutations of the BRCA1 and BRCA2 genes raise a woman"s risk of developing breast cancer before the age of 80 by 72 percent and 69 percent.
BRCA1和BRCA2基因的突變使女性在80歲之前患乳腺癌的風險分別增加了72%和69%。
On the same genes, mutations also increase pancreatic cancer for people of any gender, of ovarian cancer for women and prostate cancer for men.
在相同的基因上，突變也會增加人們患胰腺癌的風險，女性的卵巢癌和男性的攝護腺癌。
Despite the fact that genetic testing offer a likely opportunity to predict a BRCA-related cancer, most people rely on their relatives to tell them if they have a family history of risk.
儘管基因測試為預測BRCA相關癌症提供了一個可能的機會，但大多數人還是依靠親戚告訴他們是否有家族病史。
Simple blood or saliva testing can tell whether a person has any of the BRCA1 or BRCA2 mutations that raise their cancer risks, but less than 20% of those with the genes know it
簡單的血液或唾液檢測就能判斷一個人是否攜帶增加患癌症風險的BRCA1或BRCA2突變基因，但只有不到20%的基因攜帶者知道這一點
The authors of a new study from Yale University are urging people to get tested for the gene variations after discovering that only 18 percent of people they tested knew their DNA was dangerous.
耶魯大學一項新研究的作者敦促人們進行基因變異測試，因為他們發現只有18%的人知道自己的DNA是危險的。
It was discovered in the mid-1990s that mutations on the BRCA1 and BRCA2 raised breast cancer risks for women.
上世紀90年代中期，科學家發現BRCA1和BRCA2基因突變會增加女性患乳腺癌的風險。
Since then, we have learned that various mutations on those same genes can similarly affect the risks of ovarian, prostate and pancreatic cancers, as well as breast cancer for men.
從那以後，我們了解到，這些相同基因的各種突變同樣會影響患卵巢癌、攝護腺癌和胰腺癌以及男性患乳腺癌的風險。
In part because it is so common, the US government and institutions the world over have thrown their weight into breast cancer research.
在某種程度上，因為乳腺癌如此普遍，美國政府和世界各地的機構都投入了乳腺癌研究。
One in every eight women in the US will develop breast cancer at some point in their lives.
在美國，每八名女性中就有一名會在人生的某個階段患上乳腺癌。
Collectively, nearly 406,000 Americans are diagnosed pancreatic, prostate or ovarian cancer.
共有近406000名美國人被診斷為胰腺癌、攝護腺癌或卵巢癌。
An international dedication to finding a cure have driven death rates for breast cancer down significantly.
國際社會致力於尋找治療方法，這大大降低了乳腺癌的死亡率。
But even in this age of curable breast cancer,more than 40,000 American women are expected to die of breast cancer this year alone.
但即使在這個乳腺癌可以治癒的年齡，僅今年一年就有4萬多名美國婦女因乳腺癌死亡。
As with any cancer, the best "treatment" is prevention, and second to that is early detection.
與任何癌症一樣，最好的「治療」是預防，其次是早期發現。
A simple blood or saliva test at any age - even in infancy - can detect BRCA mutations.
在任何年齡——甚至在嬰兒期——進行一次簡單的血液或唾液檢測就能檢測出BRCA突變。
After the discovery of the two BRCA genes in the 1990s, there was a surge in women getting their DNA tested.
在上世紀90年代發現這兩種BRCA基因後，接受DNA測試的女性數量激增。
But then an odd thing happened, beginning in 2004: there was a sharp increase in the number of low-risk (with no or a minimal family history of breast cancer).
但奇怪的事情發生了，從2004年開始:低風險(沒有或幾乎沒有乳腺癌家族史)的人數急劇增加。
Meanwhile, many women with significant family histories of breast cancer were not getting tested.
與此同時，許多有乳腺癌家族史的女性沒有接受檢測。
The new study, published in JAMA Network Open, suggests that something similar is still going on.
發表在《美國醫學會雜誌網路開放》上的這項新研究表明，類似的事情仍在發生。
When the authors screened the genomes of over 50,000 men and women, they found that 267 had one of the BRCA mutations that put them at risk for cancer.
當發表者對超過5萬名男性和女性的基因組進行篩選時，他們發現267人的BRCA突變之一使他們面臨癌症風險。
Only 18 percent of those who had cancer-related mutations were aware of their risks.
只有18%的癌症相關突變的人知道他們的風險。
In fact, between their new research and their previous related study, the Yale University research has been responsible for the discovery of cancer for four participants.
事實上，在他們的新研究和之前的相關研究之間，耶魯大學的研究已經為四個參與者發現了癌症。
"Three of these cases were people who wouldn"t meet the screening criteria. Like a lot of people, they had no family or personal history that suggested they would have this," senior study author Dr Michael Murray told Daily Mail Online.
其中三名患者不符合篩查標準。資深研究員邁克爾·穆雷博士在接受《每日郵報》在線採訪時說:「和很多人一樣，他們也沒有家庭或個人病史。」
Genetic screening is typically only recommended for people who have a "significant" family and/or personal history of cancers that could be related to BRCA mutations.
遺傳篩查通常隻推薦那些有與BRCA突變相關的「重要」家庭和/或個人癌症病史的人。
The concern is that testing people at low risk will cause undue worry.
令人擔心的是，測試低風險的人會引起不必要的擔憂。
But Dr Murray suggests that precaution has perhaps been taken too far.
但穆雷博士認為，預防措施可能有些過頭了。
"With the change in cost and the improved ability to interpret the data I think we should be thinking about when and if and how to use genomic screening," he said.
他說，隨著成本的變化以及解讀數據能力的提高，我認為我們應該考慮何時、是否以及如何使用基因組篩選。
In 2015, Dr Murray says that BRCA testing would have cost about $3,000. Now, he estimates getting screened is about "a tenth" of that price.
穆雷博士說，在2015年，BRCA測試將花費3000美元。現在，他估計接受篩查的費用大約是這個價格的「十分之一」。
Direct-to-consumer genetic tests like 23andMe, which costs as little as $150, include BRCA testing, but it "offers testing for just three variants in the two genes," explains Dr Murray.
穆雷博士解釋說，像基因公司23andMe這樣的直接面向消費者的基因測試包括BRCA測試，成本低至150美元，但它「隻對這兩個基因中的三個變體進行測試」。
"That"s only a tiny sliver of a window of the risks."
這只是風險視窗的一小部分。
Doctors may fail to recommend BRCA screening to their patients simply because they don"t take a complete family and personal medical history.
醫生可能沒有向他們的病人推薦BRCA篩查，僅僅是因為他們沒有完整的家庭和個人病史。
Doing so would take 15 to 20 minutes, "a long time," for doctors, Dr Murray says.
穆雷醫生說，這樣做需要15到20分鐘，對醫生來說「很長時間」。
And family history alone "doesn"t work for analyzing every risk variant," and nor does testing alone.
單獨的家族史並不能分析所有的風險變異，單獨的測試也不行。
Dr Murray hopes that the knowledge that more than 80 percent of people walking around with dangerous genes will encourage more patients to discuss their full histories and splash out for genetic testing.
穆雷博士希望，超過80%的攜帶有危險基因的人會鼓勵更多的病人討論他們的全部病史，並花更多的錢進行基因檢測。
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