Thursday, September 13, 2012

Tracking Genes and Fighting Cancer

Thirty years ago Dr. Bert Vogelstein along with several Johns Hopkins researchers discovered the revolutionary gene mutation of a benign colon polyp into a cancerous tumor. At the time his studies were hailed revolutionary; however, after recent studies that expanded on the scientists’ work, even Vogelstein had to admit that his rudimentary techniques came short of this “new, great, definitive study”.

The $100 million Cancer Atlas Project, under the umbrella sponsorship of the National Human Genome Institute, funded this new study that was performed by 200 researchers across various institutions. After studying over 224 mutated colon cancer tumors, these scientists discovered that the colon gene aberrations that lead to the deadly cancer were not random, but rather had similar and even identical gene mutations. By refuting the notion that cancerous gene mutations have thousands of different and undiscoverable pathways, this study presents medical researchers with a road map to finding cancer-fighting medications that target specific gene mutation. Granted, much work still remains in terms of developing the proper treatment, however, what is encouraging is that some of this medication already exists. For example, 15% of the studied tumors displayed a BRAF mutation, which also exists in melanoma and breast cancer. Fortunately, there are already products on the market that limit the duplication of BRAF through CNVs for breast cancer. Researchers hope to combine this drug with another that combats EGRF mutations to hopefully prevent or fight the development of colon cancer.

With colon cancer as the second mostly deadly cancer in America, and with 50,000 people dying of the disease each year this study is truly revolutionary. We have come a long way from Vogelstein’s work in the 80’s, and indeed much medical progress and development lies on the roads ahead, but thanks to this study, we know which road to take. 

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