DNA sequence of cancer patient decoded for first time

In collaboration with the Press Association

Scientists at the University of Washington have sequenced the genome of a 50-year-old woman with acute myeloid leukaemia (AML) as part of an effort to identify the genetic mutations unique to her type of cancer. 

It is the first time that the complete DNA sequence of a cancer patient has been decoded and the research paves the way for the development of a genome-wide approach for deciphering cancer's genetic make-up and ultimately new types of cancer treatment. 

It is also the first time the complete DNA sequence of a woman has been published.

Analysis of tumour DNA uncovered ten genetic mutations linked to AML in the patient. Eight of the mutations occurred in genes which had hitherto lacked known association with AML and nine of the mutations were found to be present in almost every single tumour sample. 

While it is known that AML is caused by the build up of mutations in people's DNA, the precise mechanism which prompts uncontrolled cell growth has yet to be uncovered. 

However, Dr Timothy Ley, the study's lead author and Alan A and Edith L Wolff Professor of Medicine, believes genome sequencing holds the key to this discovery. "Until now, no one has sequenced a patient's genome to find all the mutations that are unique to that person's disease," he commented. 

"We didn't know what we would find, but we felt that the answers to why this patient had AML had to be embedded in her DNA." 

The decoding technique, which is described in the November 6th issue of the journal Nature, can now be applied to other forms of cancer. 

Kat Arney, senior science information officer, Cancer Research UK, said: "This is a very important piece of research, not only for our understanding of leukaemia but for many other types of cancer. Thanks to advances in technology it is now possible to unlock the genetic secrets within cancer cells, which will be the key to better diagnostic tools and treatments in the future."