公开(公告)号：US20120202207A1

公开(公告)日：2012-08-09

申请号：US13412696

申请日：2012-03-06

申请人： Bert VOGELSTEIN ,  Kenneth W. KINZLER ,  D. Williams PARSONS ,  Xiaosong ZHANG ,  Jimmy Cheng-Ho LIN ,  Rebecca J. LEARY ,  Philipp ANGENENDT ,  Nickolas PAPADOPOULOS ,  Victor VELCULESCU ,  Giovanni PARMIGIANI ,  Rachel KARCHIN ,  Sian JONES ,  Hai YAN ,  Darell BIGNER ,  Chien-Tsun KUAN ,  Gregory J. RIGGINS

发明人： Bert VOGELSTEIN ,  Kenneth W. KINZLER ,  D. Williams PARSONS ,  Xiaosong ZHANG ,  Jimmy Cheng-Ho LIN ,  Rebecca J. LEARY ,  Philipp ANGENENDT ,  Nickolas PAPADOPOULOS ,  Victor VELCULESCU ,  Giovanni PARMIGIANI ,  Rachel KARCHIN ,  Sian JONES ,  Hai YAN ,  Darell BIGNER ,  Chien-Tsun KUAN ,  Gregory J. RIGGINS

IPC分类号： C12Q1/68 ,  C07K16/40 ,  C07H21/04 ,  G01N33/574

CPC分类号： C12Q1/6886 ,  C12Q2600/112 ,  C12Q2600/118 ,  C12Q2600/136 ,  C12Q2600/156

摘要： We found mutations of the R132 residue of isocitrate dehydrogenase 1 (IDH1) in the majority of grade II and III astrocytomas and oligodendrogliomas as well as in glioblastomas that develop from these lower grade lesions. Those tumors without mutations in IDH1 often had mutations at the analogous R172 residue of the closely related IDH2 gene. These findings have important implications for the pathogenesis and diagnosis of malignant gliomas.

摘要翻译： 我们发现大多数II级和III级星形细胞瘤和少突胶质细胞瘤中异柠檬酸脱氢酶1（IDH1）的R132残基突变以及从这些较低级别病变发展的成胶质细胞瘤。 那些没有IDH1突变的肿瘤在紧密相关的IDH2基因的类似R172残基中经常具有突变。 这些发现对恶性胶质瘤的发病机制和诊断具有重要意义。

公开(公告)号：US20130196312A1

公开(公告)日：2013-08-01

申请号：US13247552

申请日：2011-09-28

申请人： Laura D. WOOD ,  Williams D. PARSONS ,  Sian JONES ,  Jimmy LIN ,  Tobias SJÖBLOM ,  Thomas BARBER ,  Giovanni PARMIGIANI ,  Victor VELCULESCU ,  Kenneth W. KINZLER ,  Bert VOGELSTEIN

发明人： Laura D. WOOD ,  Williams D. PARSONS ,  Sian JONES ,  Jimmy LIN ,  Tobias SJÖBLOM ,  Thomas BARBER ,  Giovanni PARMIGIANI ,  Victor VELCULESCU ,  Kenneth W. KINZLER ,  Bert VOGELSTEIN

IPC分类号： C12Q1/68

CPC分类号： C12Q1/6886 ,  C12Q2600/112 ,  C12Q2600/156

摘要： Human cancer is caused by the accumulation of mutations in oncogenes and tumor suppressor genes. To catalogue the genetic changes that occur during tumorigenesis, we isolated DNA from 11 breast and 11 colorectal tumors and determined the sequences of the genes in the Reference Sequence database in these samples. Based on analysis of exons representing 20,857 transcripts from 18,191 genes, we conclude that the genomic landscapes of breast and colorectal cancers are composed of a handful of commonly mutated gene “mountains” and a much larger number of gene “hills” that are mutated at low frequency. We describe statistical and bioinformatic tools that may help identify mutations with a role in tumorigenesis. These results have implications for understanding the nature and heterogeneity of human cancers and for using personal genomics for tumor diagnosis and therapy.

摘要翻译： 人类癌症是由致癌基因和肿瘤抑制基因突变的积累引起的。 为了列出肿瘤发生过程中发生的遗传变化，我们从11个乳腺和11个结肠直肠肿瘤中分离出DNA，并在这些样品中确定了参考序列数据库中的基因序列。 根据对18,191个基因的20,857个转录本的外显子的分析，我们得出结论，乳腺癌和结肠直肠癌的基因组景观由少数常见的突变基因“山”组成，更多的基因“山”在低位突变 频率。 我们描述了统计和生物信息学工具，可以帮助识别在肿瘤发生中发挥作用的突变。 这些结果有助于了解人类癌症的性质和异质性以及使用个人基因组学进行肿瘤诊断和治疗。