癌症风险

p 　　由西安交大计算机科学与技术系、陕西省医疗健康大数据工程研究中心教授王嘉寅团队与圣路易斯华盛顿大学、哈佛大学—麻省理工学院Broad研究所、贝勒医学院、梅奥临床医学院等13家世界顶级研究机构历时近三年合作完成了迄今为止最全面的癌症遗传风险图谱，相关成果近日发表于《细胞》。 /p p 　　该研究基于33种常见癌症类型、共计1万多名肿瘤患者的多组学大数据，全面应用了目前最优的生物信息学分析和实验手段，优化设计了面向多组学的数据处理流程，累计分析了超过14.6亿个候选基因变异，首次系统性报道了871个罕见易感/疑似易感变异和拷贝数变异，且较大比例地存在与基因表达异常、丧失异质性等体细胞突变的耦合。这些结果为下游研究特别是遗传变异分类和检测奠定了基础。同时，大数据分析明确展示了不同癌症类型的一些病例具有共同或类似癌症遗传风险的关键证据，这些共性模式及其与体细胞突变的相互作用能够为异癌同治提供临床辅助决策依据。 /p p 　　现代肿瘤学研究理论认为，肿瘤的发生、发展是肿瘤患者的内因和外因耦合作用的结果，其内因主要是癌症遗传风险。基于多组学大数据，挖掘癌症遗传风险，不仅是肿瘤研究的前沿领域和热点方向，而且能够广泛应用于肿瘤风险筛查、肿瘤分子预警、肿瘤精准体检和早诊。而基于大数据绘制癌症遗传风险图谱是癌症遗传风险图谱研究的热点和难点，风险图谱是临床辅助决策的重要基线之一。 /p p & nbsp & nbsp 论文题目：Pathogenic Germline Variants in 10,389 Adult Cancers /p

p 　　近日，美国食品和药品监督管理局（FDA）批准了有史以来第一款直接面向消费者的癌症风险基因检测项目。此次审批后，23andMe公司可以向其客户推销癌症风险检测项目，主要针对与乳腺癌、卵巢癌和前列腺癌风险相关特定变异基因的监测。 /p p style=" text-align: center " img src=" http://img1.17img.cn/17img/images/201803/insimg/c395f188-1f06-4680-b611-aee1aa99c91f.jpg" title=" NewsDataAction.jpeg" / /p p 　　值得注意的是，此次通过审批的基因检测项目并不是一款不需要医生处方就可以使用的基因筛查测试。主要检测包括德系犹太人血统患者中最常见的BRCA1和BRCA2基因三种变异。在这类群中，40个人就有1人拥有这三种基因变体中的一种，这将导致妇女在70岁前患乳腺癌的风险为45％-85％。 /p p 　　美国FDA体外诊断和放射卫生办公室主任DonaldSt.Pierre在一份声明中表示，“该测试为某些可能患乳房、卵巢癌或前列腺癌风险的人群提供了必要的提醒，而且这些人此前可能不会进行基因筛查，此次批准使得DTC基因检测的可用性方面又向前迈进了一步。但该基因检测也发布了相关警告。尽管在此测试中检测到BRCA突变确实表明患相关肿瘤的风险增加，但只有一小部分美国人携带这三种突变中的一种，并且增加个体肿瘤风险的其他更多种类的BRCA突变并不会被项目检测到。患者不应该认为该测试可以专业的筛查癌症或咨询遗传，应该注意生活方式的因素对癌症风险的影响。” /p p 　　23andMe表示，新近和现有的客户可以在购买服务后的未来几周内访问详细的基因检测报告。该报告还将包含教学信息，以便患者更好地理解和读懂报告，并掌握正确使用报告的方法。 /p p 　　23andMe创始人AnneWojcicki在一篇博客文章中写道：“23andMe的新报告不可以诊断癌症，也不能排除癌症发生的可能性。它并没有完全覆盖与癌症风险增加相关的数千种BRCA1和BRCA2变体的检测，此外也无法判断与遗传性癌症相关的其他基因变体或环境生活方式等非遗传因素的影响，建议消费者不要单独使用该项目来做出医疗决定。在采取任何医疗行动之前，应在医疗机构确认结果。23andMe出具的BRCA1/BRCA2报告不会对每个人都有所帮助，但我们已经知道从这些信息中有客户到了切实的益处。” /p p 　　2017年，全球领先的基因检测公司23andMe宣布已完成2.5亿美元E轮融资，由红杉资本领投，EuclideanCapital、AltimeterCapital和WallenbergFoundation等跟投。这笔融资将用于扩张其治疗团队，并投资于其众包遗传研究平台（有世上最大的DNA样本存储库）。2017年4月，23andMe获得FDA批准，成为第一家被批准提供面向消费者的基因检测服务的公司，能针对消费者因遗传导致的帕金森、迟发性阿兹海默病、乳糜泻、α-1抗胰蛋白酶缺乏症、早发性原发性肌张力障碍、因子XI缺乏症、戈谢病1型等10种疾病作出预测。 /p p 　　此次通过审批的肿瘤基因检测项目是该公司个人基因组服务（PGS）的一部分，该服务需要客户提供唾液样本。试验报告将描述女性是否存在患乳腺癌和卵巢癌风险、男性是否患乳腺癌或前列腺癌的潜在风险增加。但是公司并没有发布关于该项目的具体上市日期或价格信息。 /p p 　　随着生物技术的不断发展，精准医疗运用分子层面的治疗，人类开始有办法对受损或者变异的基因进行修复，让原先我们觉得难以解决的疑难杂症都变得有更多的可能性可以解决，为医学发展打开了新窗口。相应地，精准医疗也成为了投资的一个巨大风口。除了23andMe外，近来国内的基因测序企业都备受资本青睐。像药明明码、优迅医学、23魔方、美因生物都在近期获得了巨额投资，基因检测公司以创新基因技术在整个医疗健康产业中实现了大爆发。 /p

p title=" " align=" " style=" color: rgb(62, 62, 62) font-family: " width=" 500" p=" " src=" /Uploads/2018-03-07/5a9f387f03e32.jpg" height=" 309" alt=" " img=" " span=" " span style=" line-height: 2 " /span /p p 　　2018年3月6日，个人基因检测公司23andMe获得FDA有史以来第一个针直接面向消费者的癌症风险基因检测授权。该测试仅报告超过1,000个已知BRCA突变中的3个，阴性结果时不排除个体携带其他突变的患癌风险。 /p p 　　获批产品情况： /p p 　 strong 　样本类型： /strong 唾液 /p p 　　 strong 检测位点： /strong BRCA1基因中的185delAG、5382insC、BRCA2基因中的6174delT变异 /p p 　　 strong 适用癌种： /strong 乳腺癌、卵巢癌、前列腺癌 /p p 　　 strong 提示信息： /strong 这三个变异在德系犹太人女性中最为常见(发生率约2%，在其他种族人群中发生率为0%至0.1%)，但并不代表一般人群中常见的BRCA1 / BRCA2突变，即大多数增加个体风险的BRCA突变未被该测试涵盖。 /p p 　　FDA原文如下： /p p 　　 span style=" font-family: times new roman " The U.S. Food and Drug Administration today authorized the Personal Genome Service Genetic Health Risk (GHR) Report for BRCA1/BRCA2 (Selected Variants). It is the first direct-to-consumer (DTC) test to report on three specific BRCA1/BRCA2 breast cancer gene mutations that are most common in people of Ashkenazi (Eastern European) Jewish descent. These three mutations, however, are not the most common BRCA1/BRCA2 mutations in the general population. /span /p p span style=" font-family: times new roman " 　　The test analyzes DNA collected from a self-collected saliva sample, and the report describes if a woman is at increased risk of developing breast and ovarian cancer, and if a man is at increased risk of developing breast cancer or may be at increased risk of developing prostate cancer. The test only detects three out of more than 1,000 known BRCA mutations. This means a negative result does not rule out the possibility that an individual carries other BRCA mutations that increase cancer risk. /span /p p span style=" font-family: times new roman " 　　“This test provides information to certain individuals who may be at increased breast, ovarian or prostate cancer risk and who might not otherwise get genetic screening, and is a step forward in the availability of DTC genetic tests. But it has a lot of caveats,” said Donald St. Pierre, acting director of the Office of In Vitro Diagnostics and Radiological Health in the FDA’s Center for Devices and Radiological Health. “While the detection of a BRCA mutation on this test does indicate an increased risk, only a small percentage of Americans carry one of these three mutations and most BRCA mutations that increase an individual’s risk are not detected by this test. The test should not be used as a substitute for seeing your doctor for cancer screenings or counseling on genetic and lifestyle factors that can increase or decrease cancer risk.” /span /p p span style=" font-family: times new roman " 　　Consumers and health care professionals should not use the test results to determine any treatments, including anti-hormone therapies and prophylactic removal of the breasts or ovaries. Such decisions require confirmatory testing and genetic counseling. The test also does not provide information on a person’s overall risk of developing any type of cancer. The use of the test carries significant risks if individuals use the test results without consulting a physician or genetic counselor. /span /p p span style=" font-family: times new roman " 　　The three BRCA1/BRCA2 hereditary mutations detected by the test are present in about 2 percent of Ashkenazi Jewish women, according to a National Cancer Institute study, but rarely occur (0 percent to 0.1 percent) in other ethnic populations. All individuals, whether they are of Ashkenazi Jewish descent or not, may have other mutations in BRCA1 or BRCA2 genes, or other cancer-related gene mutations that are not detected by this test. For this reason, a negative test result could still mean that a person has an increased risk of cancer due to gene mutations. Additionally, most cases of cancer are not caused by hereditary gene mutations but are thought to be caused by a wide variety of factors, including smoking, obesity, hormone use and other lifestyle issues. For all of these reasons, it is important for patients to consult their health care professional who can help them understand how these factors impact their individual cancer risk and what they can do to modify that risk. /span /p p span style=" font-family: times new roman " 　　The FDA’s review of the test determined among other things that the company provided sufficient data to show that the test is accurate (i.e., can correctly identify the three genetic variants in saliva samples), and can provide reproducible results. The company submitted data on user comprehension studies, using representative GHR test reports, that showed instructions and reports were generally easy to follow and understood by a consumer. The test report provides information describing what the results might mean, how to interpret results and where additional information about the results may be found. /span /p p span style=" font-family: times new roman " 　　The FDA reviewed data for the test through the de novo premarket review pathway, a regulatory pathway for novel, low-to-moderate-risk devices that are not substantially equivalent to an already legally marketed device. Along with this authorization, the FDA is establishing criteria, called special controls, which set forth the agency’s expectations in assuring the test’s accuracy, reproducibility, clinical performance and labeling. These special controls, when met along with general controls, provide reasonable assurance of safety and effectiveness for this test. /span /p p span style=" font-family: times new roman " 　　The FDA granted the marketing authorization to 23andMe. /span /p p span style=" font-family: times new roman " 　　The FDA, an agency within the U.S. Department of Health and Human Services, protects the public health by assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nation’s food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products. /span /p p title=" " align=" " style=" color: rgb(62, 62, 62) font-family: " width=" 500" p=" " src=" /Uploads/2018-03-07/5a9f387f03e32.jpg" height=" 309" alt=" " img=" " span=" " span style=" color: rgb(136, 136, 136) line-height: 2 font-size: 14px " /span /p