For the first time, a cancer patient's genome was mapped

The scientists at the University of Washington hope that deciphering the genome of the patient, who suffered from acute myeloid leukemia, will make it possible to discover new ways to treat cancer * It was discovered that a combination of only ten mutations is the cause of cancer in the specific patient

For the first time, scientists were able to encode the entire DNA sequence of a cancer patient, and trace the origins of acute myeloid leukemia - a cancer of the myeloid cell line, which is responsible for the production of white blood cells.

A large research team at the Center for Gene Sequencing and the Seitman Center at Washington University School of Medicine in St. Louis and Barnes Jewish Hospital, sequenced the genome of the patient - a woman in her fifties who eventually died of her disease - and the genome of her leukemia cells (the blood cells that have become cancerous), to identify the genetic changes unique to her type of cancer. The study was published on November 6 in the journal Nature. As you remember, the first publication on decoding a human genome, in 2000, required billions of dollars and ten years of research by dozens of scientists all over the world.

The pioneering work lays the groundwork for using a more comprehensive, genome-wide approach to uncover the genetic basis of cancer. "Our work illustrates the power of decoding whole genomes to discover previously unknown mutations associated with cancer," said Dr. Richard Wilson, director of the University of Washington's Genetic Sequencing Center and one of the study's co-investigators. "A genome-wide understanding of cancer, which is now possible thanks to cheap and fast DNA sequencing technology, is the basis for developing more effective ways to diagnose and treat cancer."

It turns out that it doesn't take much to get cancer. The researchers discovered a total of ten genetic mutations in the tumor's DNA relevant to the disease. Eight of them were rare and appeared in genes that have never been linked to this disease (AML). They also showed that almost every cell in the tumor sample contained nine of the mutations, and that the less common mutation was probably the last to occur. The scientists think that all the mutations together are important for the onset of cancer in the examined patient.

Like most types of cancer, AML - a cancer of the blood-forming cells in the bone marrow - develops from mutations that accumulate in the DNA of people throughout their lives. However, very little is known about the exact nature of these changes and how they disrupt the biological pathways to cause uncontrolled cell division, the essence of cancer.

Until now, entire genomes of healthy people have been mapped, with the aim of finding different points in the DNA that may be relevant to the risk of contracting various diseases. What is interesting this time is that the scientists were able to sift through the 3 billion pairs of chemical bases that make up the human genome in order to extract from them the mutations that contributed to the development of cancer.

"Until now, no one has sequenced the entire genome of a patient to find all the mutations unique to that person's disease," said lead researcher Prof. Timothy Ley, a hematologist by training. "We didn't know what was found, but we felt that the answers to the question of why the patient had AML were in her genes."

For information on the website of Washington University in St. Louis

More of the topic in Hayadan:

• A chapter from the book "The Common Thread - The Human Genome" by John Selston, published by Attic Books and Yediot Books, 2008, describing the Human Genome Project
• The book of life of the human race
• Decoding the genome is only a third of the way
• Had Gadiya of the genome
• The differences between the human genome and the chimpanzee genome