World first in breast cancer research

7 October 2009

MSFHR Research Advisory Council member Dr. Samuel Aparicio and his team of scientists have for the first time in history decoded the genetic evolution of a breast cancer tumour. This "world first" finding was announced at a BC Cancer Agency press conference this afternoon.

“I never thought I would see this in my lifetime,” said Dr. Aparicio, head of the breast cancer research program at the BC Cancer Agency, an agency of the Provincial Health Services Authority. “The number of doors that can now be opened to future research is considerable.”

The BC Cancer agency team’s findings, to be published October 8 in the prestigious journal Nature, provide a view on how cancer begins and spreads, and pave the way to the development of new breast cancer treatments. Their work involved decoding the three billion letters in the DNA sequence of a metastatic lobular breast cancer tumour, which accounts for about 10 per cent of all breast cancers, and finding all of the mutations that caused the cancer to spread.

MSFHR Senior Scholar and director of the BC Cancer Agency’s Genome Sciences Centre Dr. Marco Marra was the co-author of the study and partnered in the research. The team studied the evolution of one patient’s tumour over a nine-year interval. They found 32 mutations in the metastatic cancer tumour and then looked to see how many of those were present in the original tumour. The result? Only five of the 32 could have been present in all of the cells of the primary tumour, which means they were responsible for the disease in the first place. These five mutations were previously unknown to researchers as playing a role in cancer.

Dr. Aparicio was recruited to BC in 2005 from Cambridge University, UK to develop the breast cancer research program at the BC Cancer Agency. In addition to his MSFHR Research Advisory Council role, Dr. Aparicio is a team member of an MSFHR-funded research unit – Model Systems and Cancer Therapeutics – aimed at identifying, characterizing and validating promising anti-cancer drug targets. He also supervises several MSFHR-funded trainees. Dr. Marra is a member of the same research unit and also supervises MSFHR-funded trainees. He received an MSFHR scholar award in 2001 and a senior scholar award in 2006.