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使检测率翻倍的遗传性乳腺癌检验产品

By LabMedica International staff writers
Posted on 04 Jun 2018
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图片:显微图像中紫色的乳腺癌细胞被粉红色的健康组织包绕(图片蒙国家卫生研究所惠赐)。
图片:显微图像中紫色的乳腺癌细胞被粉红色的健康组织包绕(图片蒙国家卫生研究所惠赐)。
对刚诊断出癌症的患者进行种系基因检验有望通过后续预防和靶向疗法减轻疾病负担。先决条件是理解对于刚诊断出癌症的患者如何把基因检验集成到实践中,并理解结果对治疗决策的影响。
 
随着临床全基因组测序日益可行,关键是理解基因检验的普及对医疗实践和病人体验的意义。然而社区实践中多基因测序的接受程度、结果或后果几乎不为人知。
 
美国加利福尼亚州斯坦福大学(www.stanford.edu)率领来自多家单位的科学家调查了一项基于群体的回顾性队列研究,受试者是2013年1月至2015年12月期间诊断出乳腺癌的5,080名患者,她们是从佐治亚州和加利福尼亚州洛杉矶市的监控、流行病和最终结果(SEER)数据库中获得,回应率是70%。病人的种族构成多样,包括51%白人、18%黑人、19%拉丁裔、9%亚裔好2.5%未知种族的病人。
 
由四家实验室执行检验:美国加利福尼亚州亚里索维耶荷的Ambry Genetics (www.ambrygen.com);美国马里兰州盖瑟斯堡的GeneDx (www.genedx.com);旧金山的Invitae (www.invitae.com);还有美国犹他州盐湖城的Myriad Genetics (https://myriad.com)。结果与SEER临床数据与调查回应相结合。检验从仅用BRCA1/2换成多基因组合:开始时多基因测序占25.6 %,BRCA1/2检验占74.4%,结束时变成多基因组合占66.5%,BRCA1/2检验占33.5%。
 
检测到接受多基因测序患者体内致病变异的几率是只分析其BRCA1和BRCA2患者的两倍,对这样的变异,指导意见建议改变治疗方法。这些变异出现在多条基因中,包括CHEK2、ATM、PALB2、APC、BRIP1、PMS2和RAD51C。然而,接受多基因检验者的意义不明变异(VUS)频度也是原来的十倍;约30%的人发生一次,而仅接受BRCA1/2检验者VUS率只有3%。对某些人群来说尤其如此:例如,接受多基因组合检验的亚洲患者51%有VUS,黑人患者这一比例为45%。
 
该研究的论文发表于2018年5月10日的《JAMA》杂志《肿瘤学》分册。作者总结说,多基因测序迅速取代了BRCA1/2检验,用于社区的乳腺癌患者,并使临床相关致病变异的检测率提高了一倍,且未造成更多的预防性乳腺切除术。然而,改进多基因测序的临床效用的重要目标包括术后延迟与意义不明变异的种族/民族差异。
 
Related Links:

斯坦福大学>>> www.stanford.edu

Ambry Genetics >>> www.ambrygen.com

GeneDx >>> www.genedx.com

Invitae >>> www.invitae.com

Myriad Genetics >>> https://myriad.com


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