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Major study uncovers new breast cancer genes and opens the door for more discoveries

An international team of researchers has used a new scientific method to discover at least 12 new genes that influence the risk of developing breast cancer.

It is one of the first published transcriptome-wide association studies in the world to examine cancer risk and provides evidence to support this relatively new method for studying genes. The method is expected to help to speed up the discovery of more genes associated with cancer and other diseases, as well as drugs to target those genes.

The study was co-led by Professor Georgia Chenevix-Trench and Dr Wei Shi from QIMR Berghofer Medical Research Institute and has been published today in the prestigious journal Nature Genetics.

“One of the research methods used by many geneticists worldwide over the last decade is the genome-wide association study. These studies have allowed us collectively to discover hundreds of genetic variants, or genetic markers, that influence our likelihood of developing certain cancers or of having certain traits, like being tall or being a coffee drinker,” Professor Chenevix-Trench said.

“While genome-wide association studies have advantages, there is a lot of information they don’t provide. For example, we can’t tell whether the genes associated with disease risk are expressed at a high or low level. In other words, we can’t tell whether the gene is turned up high like a very bright light, or is turned down low like a dim light.”

In the latest study published today, the researchers used a relatively new method known as a “transcriptome-wide association study”.

They examined approximately 8500 genes and determined whether they were likely to be turned up high or down low.

“We then looked at a much smaller group of these genes to find out what effect being turned up or down had on the risk of developing breast cancer,” Professor Chenevix-Trench said.

“In laboratory experiments, we found when we turned these 12 genes down, the cancer cells didn’t grow as well. This is an important finding because these genes were not previously known to influence the risk of developing breast cancer, and because no one has validated results from transcriptome wide association studies like this.

“In future, we hope drugs can be developed targeting those specific genes, and others like them, to turn them down and reduce the risk of developing breast cancer.

“These findings are also significant because they show that transcriptome-wide association studies are likely to be very useful in helping us to find new genes to examine for cancer risk.

“This method also has several other advantages. It allows us to look at whole genes, rather than individual markers on the genes, and to study a much smaller number of genes.”

The study used data from the Breast Cancer Association Consortium (BCAC).