American scientists have successfully sequenced the genome of a cancer patient for the first time recently. This pioneering work has created conditions for using new methods to uncover the genetic basis of cancer. Related papers were published in the journal Nature on November 6.
The sequenced genome came from a woman who died of acute myeloid leukemia (AML) in her 50s. Researchers at the University of Washington used genetic material from skin samples to sequence the DNA of her two sets of chromosomes, while detecting genetic mutations in her tumor cells based on bone marrow samples. All samples were taken from patients before receiving cancer treatment to prevent further DNA damage.
The researchers then compared the patient ’s tumor genome to its normal genome, with a view to discovering genetic differences. Of the nearly 2.7 million single nucleoside variations in the patient's tumor genome, nearly 98% were also detected in the DNA of the patient's skin sample, which greatly narrowed the scope of further screening.
The researchers eventually found only 10 genetic mutations that may be related to AML in the patient's tumor DNA, 8 of which are very rare, and the genes they belong to have never been considered to be related to AML. The researchers also showed that each cell in the tumor sample had 9 mutations, and the mutation that occurred less frequently might have been formed last. The researchers suspect that all these mutations are important for patients' cancer.
Francis Collins, a former director of the National Institute of Human Genome Research, said: "For the first time, the complete DNA sequence of the human cancer genome was determined and compared with the normal tissue of the same individual, which is a real milestone in cancer research."
Brian Druker of the Cancer Research Institute of the University of Oregon Health and Science said: "Although this study cannot tell us how to treat cancer patients, it is a critical first step on this path. It sequences large-scale cancer genomes and reveals cancer The secret lays the foundation. "
At present, the research team is sequencing the genomes of other AML patients, and they also plan to extend this genome-wide approach to breast and lung cancer.
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