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Multigene Panel Testing and Breast Cancer RiskIs It Time to Scale Down?
JAMA Oncology ( IF 22.5 ) Pub Date :  , DOI: 10.1001/jamaoncol.2017.0342
Elias I Obeid 1 , Michael J Hall 1 , Mary B Daly 1
Affiliation  

Genetic predisposition testing for breast cancer and other cancers has become a cornerstone in the evaluation of women with breast cancer, particularly if their disease is diagnosed at an earlier age or there is a significant family history of cancer.1,2 The Supreme Court ruling in 2013 that human genes cannot be patented because DNA is a “product of nature” cleared the way for companies with next-generation sequencing capabilities to develop diverse tests and panels that include multiple genes associated with hereditary cancer risk.3 Although multigene panel testing has evolved into the standard for evaluating women who meet criteria for genetic testing in the past few years, concerns about the inclusion of moderate-risk genes on some multigene panels and the uncertain clinical utility of this information have tempered the enthusiasm for panel testing among health care professionals and patients alike. In this issue of JAMA Oncology, Couch et al4 address an important question regarding the association of several moderate-risk genes included on multigene panels and breast cancer risk.



中文翻译:

多基因面板检测和乳腺癌风险是时候缩小规模了吗?

乳腺癌和其他癌症的遗传易感性检测已成为评估乳腺癌女性的基石,特别是如果她们的疾病在较早的年龄被诊断出来或有明显的癌症家族史。1 ,2最高法院于 2013 年裁定人类基因不能申请专利,因为 DNA 是“自然产物”,这为具有下一代测序能力的公司开发包括与遗传性癌症风险相关的多个基因的多种测试和面板扫清了道路. 3尽管在过去几年中,多基因panel检测已发展成为评估符合基因检测标准的女性的标准,但对某些多基因panel中包含中度风险基因的担忧以及该信息的临床效用不确定性削弱了人们对基因检测的热情。在医疗保健专业人员和患者中进行小组测试。在本期JAMA Oncology中,Couch 等人4解决了一个重要问题,即多基因组中包含的几个中度风险基因与乳腺癌风险之间的关联。

更新日期:2017-10-06
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