Global collaboration predicts nearly 200 genes that affect breast cancer risk

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An international study, co-led by Queensland researchers, has concluded that 191 genes are likely to affect a woman’s risk of developing breast cancer.

The research – led by QIMR Berghofer Medical Research Institute, Cambridge University and Harvard University – is the world’s most comprehensive analysis of genetic breast cancer risk to date.

It involved collaborators from 278 institutions from around the world.

Joint-lead researcher and QIMR Berghofer Senior Scientist, Professor Georgia Chenevix-Trench, said the genes identified could potentially be targeted with drugs in the future.

“The 191 genes were located in 150 different regions of the human genome,” Professor Chenevix-Trench said.

“While these genes had previously been identified, about 180 of them had never been linked to breast cancer risk.”

The research builds on a 2017 study, co-led by QIMR Berghofer, which identified 150 regions of the genome that were associated with breast cancer risk.

“This time we looked more closely at what was going on in those gene regions,” Professor Chenevix-Trench said.

“By homing in on thousands of genetic variants at those 150 regions, we were able to predict which genes those variants were activating.

“This research gives us a clearer picture of the genetic complexity of breast cancer and will improve our ability to predict who is at risk. We hope that will lead to better screening and early intervention.”

Professor Chenevix-Trench said they hoped scientists could use this information to develop or identify drugs that target the 191 genes.

“Another significant finding is that many of the genes we identified also play an important role in the immune system, which suggests that the immune system is critical in breast cancer risk,” she said.

“A lot of people are looking at the immune system in terms of treatment with immunotherapies, but until now, there has been little evidence that the genes that control the immune system also affect a woman’s chances of getting breast cancer.”

The study incorporated recent research by QIMR Berghofer researchers Associate Professors Stacey Edwards and Juliet French, which provided further insight into the underlying biology of the genetic risk of breast cancer.

“However, more work is still needed to confirm that each of those 191 genes affects breast cancer risk,” Associate Professor Edwards said.

Associate Professor French said given breast cancer was the most commonly diagnosed cancer in Australian in 2019, it was important to find new targets for treatments.

“Although diagnosis of breast cancer is getting better, breast cancer is still the second leading cause of cancer death for women in Australia, so we need to keep improving our understanding of it and find better ways of treating and preventing it,” Associate Professor French said.

The QIMR Berghofer researchers involved in the study were funded by the National Health and Medical Research Council.

The study findings were published in January in the prestigious journal Nature Genetics.

 
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