New research gives hope to women with BRCA1 and 2

Scientists at QIMR Berghofer Medical Research Institute are driving an international effort to give women with BRCA1 or BRCA2 gene variations a more accurate indication of their increased cancer risk.

The project – funded by Cancer Council Queensland – will be led by Associate Professor Amanda Spurdle who heads the Molecular Cancer Epidemiology Laboratory at QIMR Berghofer.

Cancer Council Queensland spokesperson Katie Clift said the organisation was proud to fund the ground-breaking research.

“We look forward to seeing the results of this research, giving greater hope to Queenslanders who carry the BRCA1 or BRCA2 gene variants,” Ms Clift said.

“There are many misconceptions and a lot of confusion about how genetics influence cancer risk –it’s important we set the record straight and provide women with the latest information available.

“This research will enable patients to make more informed choices about their treatment options if diagnosed with a BRCA1 or 2 gene variant.”

Associate Professor Spurdle said genetic testing enables patients and their doctors to make choices about risk management which increases survival – but many of the BRCA1 and 2 variants identified do not necessarily cause disease.

“Testing sometimes identifies variants which have little significance because they do not change the way the protein functions and cells remain normal,” A/ Prof Spurdle said.

“There is no standard classification for gene variants which makes it difficult to provide women with informed genetic counselling.”

According to A/Prof Spurdle, a single testing site generally cannot collect enough information to effectively classify the variants identified.

Her latest research will draw on the international consortium ENIGMA (Evidence-based Network for Investigation of Germline Mutant Alleles) which was established in 2009.

“ENIGMA’s aim was to encourage the pooling of date and so far has received more than 6300 submissions on BRCA1 and 2 variants relevant to more than 21,000 families across the consortium,” A/Prof Spurdle said.

“This new study will use the data from ENIGMA to improve and standardise classification of these genetic variants.”

The project will play a vital role in communicating new classification standards to clinicians to improve patient management.

“The standards will mean women can be given a much better indication of whether a specific variant in these gene regions will actually cause disease,” A/Prof Spurdle said.

“Those at greatest risk can then be channelled into intensive surveillance and gene-targeted therapies, or offered the choice of preventative surgery.”

Cancer Council Queensland encourages Queensland women to stay well-informed and talk to their GP about their personal risk of breast cancer.

“It’s important all women discuss their individual risk of breast cancer and steps to prevent breast cancer with a trained professional,” 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.”

It’s estimated that around five to 10 per cent of all breast cancer cases, and about 10 to 15 per cent of ovarian cancer cases occur due to an inherited gene change in BRCA1 or BRCA2.

More information about Cancer Council Queensland is available via Cancer Council’s 13 11 20 or

For more information or interviews, please contact:
Katie Clift, Executive Manager, Media and Spokesperson, Cancer Council Queensland
Ph: (07) 3634 5372 or 0409 001 171