10 genetic mutations were found in the patient's tumor and virtually every cell in the tumor sample had nine of the mutations.
“What's striking about the new research is that the scientists were able to sift through the 3 billion pairs of chemical bases that make up the human genome to pull out the mutations that contributed to the patient's cancer.”
Amazing, that the entire sequencing was processed and more information in this area will lead to finding cures and genetic warning signs for cancer and where the potential lies and again what medication in time will prove to benefit. BD
Washington University scientists first to sequence genome of cancer patient For the first time, scientists have decoded the complete DNA of a cancer patient and traced her disease - acute myelogenous leukemiaterm - to its genetic roots. A large research team at the Genome Sequencing Center and the Siteman Cancer Center at Washington University School of Medicine in St. Louis sequenced the genome of the patient - a woman in her 50s who ultimately died of her disease - and the genome of her leukemia cells, to identify genetic changes unique to her cancer. The study is reported in the Nov. 6 issue of the journal Nature.
It sets the stage for large scale sequencing of cancer genomes and unraveling the mystery of cancer."
The researchers discovered just 10 genetic mutations in the patient's tumor DNA that appeared to be relevant to her disease; eight of the mutations were rare and occurred in genes that had never been linked to AML. They also showed that virtually every cell in the tumor sample had nine of the mutations, and that the single genetic alteration that occurred less frequently was likely the last to be acquired. The scientists suspect that all the mutations were important to the patient's cancer.
Previous efforts to decode individual human genomes have looked at common points of DNA variation that may be relevant for disease risk. What's striking about the new research is that the scientists were able to sift through the 3 billion pairs of chemical bases that make up the human genome to pull out the mutations that contributed to the patient's cancer. Of the eight novel mutations discovered, three were found in genes that normally act to suppress tumor growth. One of these mutations is in the PTPRT tyrosine phosphatase gene, which is frequently altered in colon cancer.
Another gene alteration appears to affect the transport of drugs into the cell, and may have contributed to the patient's chemotherapy resistance.