New research examines changes in BRCA1 and 2 to 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 ( 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

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

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

Professor Melissa Brown, University of Queensland

Ph: (07) 3346 4714 or (07) 3365 3732

Breast cancer in Queensland

Breast cancer is the most common cancer diagnosed in women (excluding non-melanoma skin cancers) and the second highest cause of cancer-related death in Queensland women. The early detection of breast cancer can lead to increased survival rates and improved quality of life.

  • Around 2,900 women are diagnosed with breast cancer in Queensland each year.
  • 469 Queensland women died from breast cancer in 2010 and four Queensland men.
  • 2,911 Queenslanders were diagnosed with breast cancer in 2010, of which 2,887 were women and 24 were men.
  • Compared to the general population, almost 90 per cent of females diagnosed with breast cancer will survive for at least five years.

Detect breast cancer early

Cancer Council Queensland strongly recommends that eligible women take part in the national breast screening program, while remaining breast aware at all times. If you notice any changes to the normal look and feel of your breasts at any time, see your doctor without delay.

Mammographic screening every two years is recommended for women aged 50-74 years, though it is available for free to women from 40 years of age. Regular mammograms can reduce your risk of death from breast cancer by 25 per cent, particularly women in the 50-69 age group for whom benefit is highest.

Eligible women should be screened every two years at one of the 500 locations available nationwide. To make an appointment at your nearest BreastScreen Australia service phone 13 20 50 (cost of a local phone call).

Be “Breast Aware‟ by familiarising yourself with the normal look and feel of your breasts. Women of all ages should be familiar with the normal look and feel of their breasts.
If you notice any of the following changes please see your doctor immediately:

  • A lump, lumpiness or thickening of the breast
  • Changes in the skin of a breast, such as puckering, dimpling or a rash
  • Persistent or unusual breast pain
  • A change in the shape or size of a breast
  • Discharge from a nipple, a nipple rash or a change in its shape.

If you notice any breast changes, speak to your doctor as soon as possible.

What if I am diagnosed?

If you are diagnosed with breast cancer, your doctor can advise suitable treatment options for you to consider. There are many programs and services Cancer Council Queensland offers to support you and your loved ones with a cancer diagnosis. For cancer support and information, contact:

Cancer Council on 13 11 20 Monday to Friday, 8am to 6pm.

Further information
Cancer Council Queensland
BreastScreen Australia 13 20 50
Cancer Australia