就乳腺癌和卵巢癌而言,FDA已经批准了一项针对BRCA1和BRCA2基因三种特定突变的筛查测试,这两种突变在德系犹太人中最为常见。然而,这些突变在其他血统的人身上很少见。
Ashkenazi[ˌæʃkəˈnɑːzi]:n.德系犹太人
Similarly, for bowel cancer, 23andMe offers FDA-authorised tests for two mutations, which are most common among individuals of northern European ancestry. The company explains the limitations of these tests to consumers and on its website.
类似地,对于肠癌,23andMe公司提供FDA授权的两种基因突变检测,这在北欧血统的人中最为常见。该公司在其网站上向消费者解释了这些测试的局限性。
Esplin said that despite this, consumers could be wrongly reassured by a negative result.
埃斯普林表示,尽管如此,消费者仍可能被阴性结果错误地打消疑虑。
The study analysed the DNA of 270,806 patients who had been referred by healthcare providers for testing of the MUTYH gene, and 119,328 who had been referred for BRCA1/2 genetic testing.
这项研究分析了270806名被医疗机构推荐进行MUTYH基因检测患者的DNA,以及119328名被推荐进行BRCA1/2基因检测患者的DNA。
It showed that for both tests, the majority of those carrying mutations would not be spotted, which Invitae describes as a “clinical false-negative result”.
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