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Original article Data mining using the Catalogue of Somatic Mutations in Cancer BioMart

by Rebecca Shepherd, Simon A. Forbes, David Beare, S. Bamford, Charlotte G. Cole, Sari Ward, Nidhi Bindal, Prasad Gunasekaran, Mingming Jia, Chai Yin Kok, Kenric Leung, Andrew Menzies, Adam P. Butler, Jon W. Teague, Peter J. Campbell, Michael R. Stratton, P. Andrew Futreal
"... providing information on somatic mutations implicated in human cancer. Release v51 (January 2011) includes data from just over 19 000 genes, 161 787 coding mutations and 5573 gene fusions, described in more than 577 000 tumour samples. COSMICMart (COSMIC BioMart) provides a flexible way to mine thes ..."
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providing information on somatic mutations implicated in human cancer. Release v51 (January 2011) includes data from just over 19 000 genes, 161 787 coding mutations and 5573 gene fusions, described in more than 577 000 tumour samples. COSMICMart (COSMIC BioMart) provides a flexible way to mine

Pan-cancer patterns of somatic copy-number alteration

by Travis I. Zack, Steven E. Schumacher, Scott L. Carter, Andrew D. Cherniack, Gordon Saksena, Barbara Tabak, Michael S. Lawrence, Cheng-zhong Zhang, Craig H. Mermel, Carrie Sougnez, Stacey B. Gabriel, Bryan Hern, Peter W. Laird, Gad Getz, Matthew Meyerson, Rameen Beroukhim, Travis Zack, Steven Schumacher, Scott C
"... Determining how somatic copy-number alterations (SCNAs) promote cancer is an important goal. We characterized SCNA patterns among 4934 cancers from The Cancer Genome Atlas Pan-Cancer dataset. Whole-genome doubling, observed in 37 % of cancers, was associated with higher rates of every other type of ..."
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to encompass genes whose proteins physically interact, suggesting related functions. These results provide insights into mechanisms of generation and functional consequences of cancer SCNAs. Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes

Original Article International Cancer Genome Consortium Data Portal—a one-stop shop for cancer genomics data

by Junjun Zhang, Joachim Baran, A. Cros, Jonathan M. Guberman, Syed Haider, Jack Hsu, Yong Liang, Elena Rivkin, Jianxin Wang, Brett Whitty, Marie Wong-erasmus, Long Yao, Arek Kasprzyk
"... The International Cancer Genome Consortium (ICGC) is a collaborative effort to characterize genomic abnormalities in 50 different cancer types. To make this data available, the ICGC has created the ICGC Data Portal. Powered by the BioMart software, the Data Portal allows each ICGC member institution ..."
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The International Cancer Genome Consortium (ICGC) is a collaborative effort to characterize genomic abnormalities in 50 different cancer types. To make this data available, the ICGC has created the ICGC Data Portal. Powered by the BioMart software, the Data Portal allows each ICGC member

Designing a High-Throughput Somatic Mutation Profiling Panel Specifically for Gynaecological Cancers

by Vivian M. Spaans, Marjolijn D. Trietsch, Stijn Crobach, Ellen Stelloo, Dennis Kremer, Elisabeth M. Osse, Natalja T. Ter Haar, Ronald Van Eijk, Susanne Muller, Tom Van Wezel, J. Baptist Trimbos Tjalling Bosse
"... Somatic mutations play a major role in tumour initiation and progression. The mutation status of a tumour may predict prognosis and guide targeted therapies. The majority of techniques to study oncogenic mutations require high quality and quantity DNA or are analytically challenging. Mass-spectromet ..."
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on the genes that are most relevant in gynaecological cancers. In this study, we report the design and validation of a novel, mass-spectrometry based panel specifically for gynaecological malignancies and present the frequencies of detected mutations. Using frequency data from the online Catalogue of Somatic

A graph theoretic approach to utilizing protein structure to identify non-random somatic mutations

by Gregory Ryslik, Yuwei Cheng, Kei-hoi Cheung, Yorgo Modis, Hongyu Zhao , 2013
"... Background: It is well known that the development of cancer is caused by the accumulation of somatic mutations within the genome. For oncogenes specifically, current research suggests that there is a small set of “driver ” mutations that are primarily responsible for tumorigenesis. Further, due to s ..."
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with the mutational data in the Catalogue of Somatic Mutations in Cancer (COSMIC), GraphPAC identifies new mutational clusters in well known oncogenes such as EGFR and KRAS. Further, by utilizing graph theory to account for the tertiary structure, GraphPAC identifies clusters in DPP4, NRP1 and other proteins

Somatic mutation of EZH2 (Y641) in Follicular and Diffuse Large B-cell Lymphomas of Germinal Center Origin

by Ryan D. Morin, Nathalie A. Johnson, Tesa M. Severson, Andrew J. Mungall, Rodrigo Goya, Jessica E. Paul, Merrill Boyle, Bruce W. Woolcock, Damian Yap, R. Keith Humphries, Obi L. Griffith, Sohrab Shah, Michelle Kimbara, Pavel Shashkin, Jean F. Charlot, Marianna Tcherpakov, Richard Corbett, Angela Tam, Richard Varhol, Duane Smailus, Michelle Moksa, Yongjun Zhao, Allen Delaney, Hong Qian, Inanc Birol, Jacqueline Schein, Robert Holt, Doug E. Horsman, Joseph M. Connors, Steven Jones, Martin Hirst, Y D. Gascoyne, Marco A. Marra
"... Follicular lymphoma (FL) and the GCB subtype of diffuse large B-cell lymphoma (DLBCL) derive from germinal center B-cells1. Targeted re-sequencing studies have revealed mutations in various genes in the NFkB pathway2,3 that contribute to the activated B-cell (ABC) DLBCL subtype but, thus far, few GC ..."
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in several cancer Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:

H (2013) Identification of candidate genes for lung cancer somatic mutation test kits. Genetics and molecular biology 36(3): 455–464. doi: 10.1590/S141547572013000300022 PMID: 24130455

by Yong Chen, Jian-xin Shi, Xu-feng Pan, Jian Feng, Heng Zhao
"... Over the past three decades, mortality from lung cancer has sharply and continuously increased in China, ascending to the first cause of death among all types of cancer. The ability to identify the actual sequence of gene mutations may help doctors determine which mutations lead to precancerous lesi ..."
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lesions and which produce invasive carcinomas, especially using next-generation sequencing (NGS) technology. In this study, we analyzed the latest lung cancer data in the COSMIC database, in order to find genomic “hotspots ” that are frequently mutated in human lung cancer genomes. The results revealed

Using common variants to indicate cancer genes

by Lucy F. Stead, Helene Thygesen, David R. Westhead, Pamela Rabbitts
"... The catalogue of tumour-specific somatic mutations (SMs) is growing rapidly owing to the advent of next-generation sequenc-ing. Identifying those mutations responsible for the development and progression of the disease, so-called driver mutations, will increase our understanding of carcinogenesis an ..."
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that the approach has merit. As additional data from cancer sequencing studies are made publicly available, this approach can be refined and applied to specific cancer subtypes. We named this preliminary version of our approach PRISMAD (poly-morphism rates indicate somatic mutations as drivers) and have made

Molecular classification of breast carcinomas by comparative genomic hybridization: a specific somatic genetic profile for BRCA1 tumors

by Lodewyk F. A. Wessels, Tibor Van Welsem, Augustinus A. M. Hart, Laura J. Van’t Veer, Marcel J. T. Reinders, Petra M. Nederlof - Cancer Res , 2002
"... In 70 % of the families with a high frequency of early-onset breast and/or ovarian cancer, BRCA1 or BRCA2 germline mutations cannot be identified with the current screening regime. Therefore, we used data mining to identify a somatic genetic signature to differentiate BRCA1 mutation carriers from no ..."
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In 70 % of the families with a high frequency of early-onset breast and/or ovarian cancer, BRCA1 or BRCA2 germline mutations cannot be identified with the current screening regime. Therefore, we used data mining to identify a somatic genetic signature to differentiate BRCA1 mutation carriers from

Cancer Biology and Signal Transduction A Meta-analysis of Somatic Mutations from Next Generation Sequencing of 241 Melanomas: A Road Map for the Study of Genes with Potential Clinical Relevance

by Junfeng Xia, Peilin Jia, Katherine E. Hutchinson, Kimberly B. Dahlman, Douglas Johnson, Jeffrey Sosman, William Pao, Zhongming Zhao
"... Next generation sequencing (NGS) has been used to characterize the overall genomic landscape of melanomas. Here, we systematically examined mutations from recently published melanoma NGS data involving 241 paired tumor-normal samples to identify potentially clinically relevant mutations. Mela-nomas ..."
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"pan negative. " We then mined the driver mutation-positive and pan-negative melanoma NGS data for mutations in 632 cancer genes that could influence existing or emerging targeted therapies. First, we uncovered several genes whose mutations were more likely associated with BRAF- or NRAS
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