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Q&A Research

Heather Thorne- Manager of kConFab talks about kConFab research and why it is so important.

What research kConFab does?
The Kathleen Cunningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab) is a unique research co-operative which brings together epidemiologists, medical oncologists, surgeons, radiation oncologists, molecular biologists, geneticists, genetic counselors, statisticians, psychologists and pathologists who work together to create a biological and data resource to solve pressing clinical, genetic and epidemiological problems of familial breast/ovarian cancer. Almost every research group in Australia with a major commitment to the research of familial breast/ovarian cancer is represented in kConFab.

Why is kConFab so important?
The risk of developing breast cancer is not spread evenly across the population. In Australia, about 300,000 women (and men) carry mutations in high risk genes and about half of them will develop breast and/or ovarian cancer. For these women and their families, breast cancer is a genetic disease that strikes particularly hard, often and at an early age, during childbearing years and in the middle of a career.
In some families, the exact genetic cause of the disease can be identified – for example a mutation in BRCA1 or BRCA2. But in the majority of families, the gene(s) are still unknown. Our lack of knowledge about familial cancer results in significant decision-making dilemmas for cancer patients, for women without cancer but who carry known mutations in known genes, and for women with a strong family history but unknown mutation status. These dilemmas can be resolved only through further research studies, in which biological samples and comprehensive genetic, epidemiological, clinical and psychosocial data are collected in a systematic fashion from large numbers of high risk families and made available to the breast cancer researchers around the world. By coordinating the efforts of its members across the entire spectrum of familial breast cancer, kConFab has created a genetic, biological, epidemiological and clinical resource of immense value that is used nationally and internationally for basic and clinical researcher.

How does kConFab spend its grant money?
All of kConFab’s activities are supported by competitive grants from the National Health & Medical Research Council, the National Breast Cancer Foundation and philanthropic business and fund raising groups. kConFab use these funds to employ staff to study familial breast cancer:
• How to prevent it and smarter and faster ways to detect and treat it more effectively.
• Identify ALL the genes responsible for familial breast cancer.
• Discover the best ways to detect tumors at the earliest stages.
• Provide the best forms of counseling and psychological support.
• Pinpoint the genetic and lifestyle factors that may help protect against the disease.

Funds are also used to keep pace with advancing technology, taking advantage of the technical advances flowing from mapping the human genome. Huge improvements in technology during the past decade have provided the power to solve genetic problems that were previously beyond reach. These new technologies are expensive and kConFab requires ongoing funds to bring these technologies on stream and use them to solve problems evident in our families.

Due to our activities, we are the major driver of breast cancer research in Australia and provide lifestyle data and biological samples to more than 90 research projects here and overseas.

Progress to date:
As detailed in an independent review conducted in September 2008 ” kConFab has had a major role in organising familial breast cancer research in Australia and contributing this research to the major international consortia.

By bringing together and integrating the major clinical and research activities in familial breast cancer in Australia, kConFab has achieved international recognition as a model for multi-centre, population-wide, collaborative research.

kConFab has played a key enabling role in:
• Uniting geographically and academically diverse clinicians into a body that has developed best practice protocols for collection of data and materials for research into familial breast cancer,
• Providing Family Cancer Clinics with evidence-based guidelines for many of their clinical activities e.g. a uniform approach to classification of pathogenicity of BRCA1/2 variants.
• Working across state boundaries for families resident in more than one state for both research and clinical care.
• The conduct of multi-centre, translational research in areas of genetic epidemiology and the psychosocial aspects of familial cancer care.
• Promoting a virtuous cycle of research-clinical care-research that has resulted in better co-ordinated clinical care of women with familial breast cancer and their families, informed by the latest research results.
• Integrating community involvement with familial breast cancer research.
The consortium’s highly regarded annual meetings have served to promote similar consortia for other cancer studies, and facilitated the exchange of information among basic, clinical, genetic, and psychosocial researchers and clinicians.
We also note that the kConFab model is likely to provide substantial cost-savings for both research funders and clinical service providers relative to a series of smaller, poorly integrated efforts.

The kConFab resource has also played a pivotal role in international consortia engaged in the genetics of both familial and sporadic breast cancers. The size of the resource and high quality of the data it contains has meant that the participation of kConFab in these international consortia is not only welcomed but also actively sought.”

A gene known to cause breast cancer can also cause prostate cancer – a new risk factor for prostate cancer.
kConFab research has now shown that a fault in the BRCA2 gene can also cause prostate cancer in men.
kConFab researchers based at The Peter MacCallum Cancer Centre and The University of Melbourne, using the large kConFab resource of biological samples and life style data, were able to show that mutations in the BRCA2 gene are directly responsible for most of the prostate cancers in men who inherit these mutations. A man with a genetic fault in the BRCA2 gene has a life-time risk of developing prostate cancer 3.5 times higher than that of men in the general population. The BRCA2-prostate cancers that arise in these men also tend to be more aggressive.

This kConFab study demonstrates the importance of men’s family cancer history, especially men who belong to a family with many cases of breast and/or ovarian cancer. Future research may provide evidence to support intensified screening of men at increased genetic risk of prostate cancer and may lead to new treatments for this type of prostate cancer.