Medical Professional Publications

Research Now: First Cancer-Genome Study Appears in Nature

Nationwide Children’s served as a tumor-processing center for the study which focused on colorectal cancer

The first cancer-genome-related paper for which Nationwide Children’s Hospital served as a tumor processing center has appeared in Nature and focuses on colorectal cancer.   

Nationwide Children’s is a Biospecimen Core Resource for the National Cancer Institute’s project called The Cancer Genome Atlas (TCGA).  The goal of TCGA is to create a comprehensive catalog of the genomic changes involved in more than 20 common types of cancer.  This large-scale effort is being carried out by a network of more than 100 researchers at organizations across the nation.

As a Biospecimen Core Resource for TCGA, The Research Institute at Nationwide Children’s acquires tumor and normal tissue samples and their accompanying clinical information from contributing medial and research centers.

The research appearing in Nature analyzes 276 tumor samples, and presents new markers for aggressive tumors, along with uncovering an important role for the regulator gene MYC. The team also identifies copy number variation in two genes that could be potential drug targets.

Colorectal cancer is the second leading cause of cancer-related deaths in the United States and the data provide a useful resource for understanding this deadly disease. The Cancer Genome Atlas, of which Nationwide Children’s is a partner, plans to profile genomic changes in 20 cancer types and has published results on two kinds of cancer so far.

In this paper they present an analysis of the exome sequence, DNA copy number, promoter methylation and messenger RNA and microRNA expression in human colorectal carcinoma. In the analysis, 16 percent of the tumors have mutations in DNA repair genes so they are hypermutated - mutation is unusually frequent in these tumors and this can explain why they become resistant to treatment.

The data reveal a remarkably consistent pattern of genomic alteration, and colon and rectum cancers have considerably similar patterns of genomic alteration, with 24 genes significantly mutated. Recurrent copy-number alterations include amplifications of ERBB2 and newly discovered amplification of IGF2, which the authors suggest could be targets for new drugs that could treat colorectal cancer in a targeted way.

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