New study reveals more about brain cancer

Judy Keen
Nov 1, 2013

Efforts to understand the key factors that contribute to cancer have taken another significant step forward. In a recent paper published in the journal Cell in October (Cell; October 10, 2013; doi: 10.1016/j.cell.2013.09.034), researchers at the National Cancer Institute, the National Human Genome Research Institute, along with other research institutions, have identified three crucial cell growth pathways and the DNA modifications that cause them to malfunction in a form of brain cancer called glioblastoma multiforme (GBM). This new data implicates key "driver" mutations that are common in most GBM tumors, as well as other mutations found in the same pathway. “Driver mutations” are the mutations in critical genes that can lead to excess or uncontrolled growth. Other mutations, sometimes called "passenger" mutations may also exist, but these types of mutations do not alter the function of the gene or significantly affect the cell on their own.

This recent study is also notable because it increases the number of GBM tumors that have been analyzed to this extent to over 500 tumor samples (a large number in the context of human tumor studies). This gives researchers a large enough sample size to begin identifying common abnormalities within a subset of tumors. The ability to create a known signature of mutations that classify a specific type or subtype of tumor could help in developing more targeted treatment options. This data could also be used to identify new ways to detect GBM earlier. Likewise, the genes and gene pathways identified in the GBM samples in this study have been shown to cause uncontrolled cell growth in other cancer types, which could help identify treatments for these other cancers. Lastly, in a subset of tumors, mutations were found in genes that already have existing therapies that may be effective.

The goal of this work is to carefully investigate the gene profile of a large number of cancer tumor types and to fully understand the mutations and alterations in the cell that are common among tumor samples. This understanding will help design new detection and treatment options that can help with diagnosis and treatment of GBM and many other cancer types.

The image of the DNA sequence is by self through Wikipedia Commons and is used under a Creative Commons Attribution 2.0 license.

Judy Keen

Judy is a S&T Alumni Fellow (HEHS, 2012-2014). She blogs about the latest cancer research, increasing the access to the scientific literature, and graduate education. Follow Judy on twitter @judykeenphd or at


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