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2. 发明申请

WO2014201092A8 NON-INVASIVE BLOOD BASED MONITORING OF GENOMIC ALTERATIONS IN CANCER 审中-公开
标题翻译：非侵入性血液监测癌症基因改变
公开(公告)号：WO2014201092A8
公开(公告)日：2015-02-19
申请号：PCT/US2014041871
申请日：2014-06-11
申请人： DANA FARBER CANCER INST INC
发明人： JANNE PASI A , PAWELETZ CLOUD P , OXNARD GEOFFREY , KUANG YANAN
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6886 , A61K31/437 , A61K31/517 , C12Q1/6827 , C12Q2600/106 , C12Q2600/156 , C12Q2545/101
摘要： The invention provides methods to monitor cell free nucleic acids. The method comprises obtaining a plasma sample from a subject known to have a cancer characterized by a pair of mutually exclusive mutations specific to the cancer; isolating cell free nucleic acids from the plasma sample obtained from the subject; measuring the amount a housekeeping gene and/or total DNA in the cell free nucleic acids isolated from the plasma sample to confirm that the amount of housekeeping gene and/or total DNA in the sample is within a selected range; measuring the amount of a first of the pair of mutually exclusive mutations specific to the cancer in the cell free nucleic acids isolated from the plasma sample; and indicating in a report that the subject has the first mutation when (a) the amount of the housekeeping gene and/or total DNA in the cell free nucleic acids isolated from the plasma sample is within the selected range and (b) the amount of the first mutation is increased as compared to a control amount, wherein the control amount is determined by measuring the apparent amount of the first mutation in control cell free nucleic acids isolated from plasma samples obtained from control subjects known to have the second of the pair of mutually exclusive mutations specific to the cancer using measuring conditions substantially the same as those used to measure the amount of the first mutation in the cell free nucleic acids isolated from the plasma sample from the subject.
摘要翻译：本发明提供了监测无细胞核酸的方法。该方法包括从已知具有特征于癌症特异性的一对相互排斥突变的癌症的受试者获得血浆样品; 从获自受试者的血浆样品中分离无细胞核酸; 测量分离自血浆样品的无细胞核酸中的管家基因和/或总DNA以确认样品中的持家基因和/或总DNA的量在选定范围内; 测量从所述等离子体样品分离的无细胞核酸中所述癌细胞特异性的所述一对相互排斥突变中的第一个的量; 并且在报告中指出，当（a）从所述血浆样品分离的无细胞核酸中的持家基因和/或总DNA的量在所选范围内时，所述受试者具有第一突变，以及（b）与对照量相比，第一突变增加，其中对照量通过测量从对照受试者中获得的对照细胞中分离的对照细胞中的第一个突变的表观量来测定，所述对照细胞从已知具有第二对使用与用于测量从受试者分离自血浆样品的无细胞核酸中的第一突变量的测量条件基本相同的癌症特异性突变。

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