New research examines changes help predict cancer risk
QUEENSLAND researchers are working to understand the significance of changes in breast cancer genes BRCA1 and BRCA2 to improve cancer risk predictions.
A team of University of Queensland and QIMR Berghofer researchers, funded by Cancer Council Queensland, is aiming to develop clinically useful tools to classify genetic mutations responsible for increasing risks of breast cancer.
UQ School of Chemistry and Molecular Biosciences Research Group Leader Professor Melissa Brown said the project had evaluated the clinical significance of some changes in the control regions of genes BRCA1 and BRCA2.
"We're very grateful to have the Cancer Council's support to study the significance of these changes," Professor Brown said.
Professor Brown works in close collaboration with Dr Nicole Cloonan and Associate Professor Amanda Spurdle from QIMR-B on the project. They are separately funded by Cancer Council Queensland.
She said the changes that had been identified may reduce the levels of expression of the genes.
"As these genes function to suppress breast cancer development, if the levels are reduced, breast cancers may develop," she said.
Professor Brown said breast cancer susceptibility genes such as BRCA1 and BRCA2 were routinely screened if there was a strong family history of disease.
"Whilst a large number of changes (or variants) in these genes are known to be associated with breast cancer risk, for many changes the clinical significance is unknown," she said.
"Genetic testing of breast cancer susceptibility genes frequently identifies gene variants of uncertain clinical significance.
"Determining the clinical significance of these variants is a major and increasing challenge for genetic counsellors and clinicians."
Cancer Council Queensland spokesperson Katie Clift said the organisation was proud to be funding the project.
"Around five to 10 per cent of all breast cancer cases occur due to an inherited gene change in BRCA1 or BRCA2," Ms Clift said.
"Nearly 3000 Queensland women are diagnosed with breast cancer each year. Investing in world-class research to beat the disease remains a priority."
Cancer Council Queensland encouraged all Queensland women to stay well-informed and talk to their GP about their personal risk of breast cancer.
"During October, Pink month, and ahead of Pink Ribbon Day, we're reminding all women to talk to their GP about individual risks of breast cancer and how it can be prevented and detected early," Ms Clift said.
"All women should be breast aware by checking their breasts regularly. It's critically important that women who notice changes in their breasts see their doctor immediately.
"If breast cancer is found and treated early, there is increased chance of surviving the disease."
Professor Brown is a member of a large international consortium known as ENIGMA (http://www.enigmaconsortium.org/) which is classifying hundreds of variants in breast cancer susceptibility genes in patients from around the world.
She said ENIGMA investigators were determining the clinical significance of sequence variants in breast cancer genes.
"This research is ongoing and aims to be able to predict whether variants in control regions contribute to breast cancer or not," she said.
"We hope this research will enable the development of guidelines for interpreting such changes in a clinical setting."
More information about University of Queensland is available at uq.edu.au.
More information about Cancer Council Queensland is available at 13 11 20 or via cancerqld.org.au.