Researchers at the QIMR Berghofer Medical Research Institute have determined how a single DNA variant increases a woman’s risk of developing breast cancer.
Dr Stacey Edwards from QIMR Berghofer’s Functional Cancer Genomics team says the research could provide future opportunities for early intervention to stop breast tumours developing.
“It has long been thought that the Insulin-like Growth Factor pathway (IGF) would be important in cancer development, but its exact role has been unclear,” Dr Edwards said.
“We have been able to show that women with a specific DNA variant that reduces their levels of a specific protein (IGFBP5) in this pathway are at increased risk of developing breast cancer.”
The work at QIMR Berghofer’s Herston laboratories drew on an international study comparing the DNA of 50,000 breast cancer patients to 50,000 women without the disease.
“The world-wide study has identified 120 single changes in DNA between the two groups,” Dr Edwards said.
“This current study has narrowed in on one of those DNA variants and we now have a much better understanding of one of the biological pathways underpinning breast cancer development.
“It is our hope that other scientists will pick up on this finding and could perhaps develop a new targeted drug to prevent breast tumour development.”
Dr Edwards says the results could also be used in future genetic tests to identify women likely to be at the highest risk.
“This research is part of an international collaboration identifying regions of the genome that can increase a person’s risk of breast, prostate and ovarian cancer,” Dr Edwards said.
“Of the 120 variants in women with breast cancer, so far we have finished analysing and understanding six of them.
“Each variant can take up to two years to fully characterise, so we have a long way to go before the 120 are completed.”
Dr Edwards says by involving research teams from institutions around the world, it is hoped the work will be completed much sooner.
The latest research has just been published online in the prestigious scientific journal Nature Communications and can be viewed at: http://www.nature.com/ncomms/2014/140923/ncomms5999/full/ncomms5999.html.