09 October 2009

Breakthrough cancer finding

Researchers reported the first evidence that cancer cells genetically mutate as the disease progresses, a "watershed" discovery they say holds hope for new treatments.


Researchers reported the first evidence that cancer cells genetically mutate as the disease progresses, a "watershed" discovery they say holds hope for new treatments.

The researchers completed the world's first sequencing of the billions of letters in the DNA of a female cancer patient at three different stages, in just weeks. The feat was reported in the science journal Nature.

Showing that cancer evolves "will lead to a shift in perspective" in how cancer is treated, lead researcher Samuel Aparicio of Canada's British Columbia Cancer Agency (BCCA) told AFP.

When a cell divides as a normal and lifelong process, the DNA genetic code is copied to each new cell. When mutations cause the new cells to grow out of control, cancer can occur, noted the agency.

How the study was done
Researchers tracked mutations in the woman's healthy cells, in addition to a local tumour when her breast cancer was first diagnosed, and in cells nine years later after the cancer spread, or metastasised.

In the metastasised cells they found 32 DNA mutations, said Aparicio.

"When we looked back to see if they were present in the primary tumour, we found only five mutations that could have been present in all cells."

That just five of the 32 later mutations were originally present was a surprise, the BCCA said.

The mutations -- which they described as "spelling" mistakes in the DNA lettering -- were "the criminals that caused the disease to get started in the first place," the BCCA said. "These five mutations were previously unknown to researchers as playing a role in cancer."

The agency said that "the ability to analyse both the original and the metastatic cancer cells has given us unprecedented information about how breast cancer develops and progresses."

"This is a watershed event in our ability to understand the causes of breast cancer and to develop personalised medicines for our patients," Aparicio said.

What the findings mean
He said a key finding was "not only that the primary cancer evolved a lot, but the primary tumour was a mosaic of different mutations which then increased over time".

That knowledge will improve cancer tests and treatments, he said, because it shows cells in a tumour are not all the same and each kind of cell may respond differently to treatment.

The agency compared being able to decode billions of DNA letters using new next-generation DNA sequencing technology to the discovery of a "secret book of a breast cancer".

Study co-author Marco Marra, director of the Genome Sciences Centre at the cancer agency, noted the first decoding of the human genome, completed in 2001, "took years and an enormous amount of funding. We were able to sequence the breast cancer genome in weeks and at a fraction of the cost."

Gene sequencing will cost increasingly less and eventually take "a matter of days," predicted Aparicio, allowing doctors to tailor future treatment to individual patients.

Breast cancer is the most common form of cancer among women worldwide and the leading cause of cancer death among women.

Scientists do not know whether the woman whose DNA was used in the research survived her cancer, said Aparicio, because BCCA studies are conducted anonymously. – (AFP, October 2009)

Read more:
Mammograms save lives: study


Read Health24’s Comments Policy

Comment on this story
Comments have been closed for this article.

Ask the Expert

Cancer expert

CANSA’s purpose is to lead the fight against cancer in South Africa. Its mission is to be the preferred non-profit organisation that enables research, educates the public and provides support to all people affected by cancer. Questions are answered by CANSA’s Head of Health Professor Michael Herbst and Head of Advocacy Magdalene Seguin. For more information, visit

Still have a question?

Get free advice from our panel of experts

The information provided does not constitute a diagnosis of your condition. You should consult a medical practitioner or other appropriate health care professional for a physical exmanication, diagnosis and formal advice. Health24 and the expert accept no responsibility or liability for any damage or personal harm you may suffer resulting from making use of this content.

* You must accept our condition

Forum Rules