Researchers at the Washington University School of Medicine just completed the “single largest cancer genomics” study ever reported, in which they sequenced genomes of 50 breast cancer patients.
A quick breakdown of the study’s scope and, more importantly, its findings:
- All 50 patients were diagnosed with the same kind of breast cancer, estrogen-receptor positive.
- The tumors had over 1,700 mutations, most of which were unique to the individual. “This explains our difficulty in predicting outcomes and finding new treatments,” says a lead researcher on the project.
- Researchers sequenced more than 10 trillion chemical bases of DNA. The sequencing of each patient’s tumor and healthy DNA was repeated 30 times per patient in order to ensure accuracy.
- Analyzing the data required computer facilities similar in size to the facilities of the Large Hadron Collider. Jesus.
- There were a few mutations that were “relatively common.” The first was present in about 40% of patients’ cancers. Another was present in about 20% percent, and the third at 10%.
- “Breast cancer is so common that mutations that recur at a 5 percent frequency level still involve many thousands of women,” says the lead researcher.
So what does this all mean? Obviously any findings are good findings (in terms of information), and in theory the information will help aid doctors in the development of individualized treatments. But the study also reveals more about the specific complexities of the disease, and that’s a big step in the big picture.
DNA of 50 Breast Cancer Patients Decoded [EurekAlert]
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