What is kConFab and why is it such an important part of research into familial cancer?

23 Aug 2021

What is the kConFab Consortium?

Bringing together geneticists, clinicians, community representatives, surgeons, genetic counsellors, psychosocial researchers, pathologists and epidemiologists from all over Australia and New Zealand, The Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab) believe the causes and consequences of familial predisposition to breast cancer can be understood only by a concerted national effort, at both the basic and clinical level.

In 1997, kConFab began enrolling families with a strong history of breast and breast/ovarian cancer. Genetic, epidemiological, medical and psychosocial data collected from these families by kConFab are stored in a central relational database with names and obvious identifiers removed, but the rest of the data is left untouched.

Biospecimens collected from family members are used to characterise germ-line mutations in predisposing genes such as BRCA1, BRCA2, ATM, PALB2, p53, PTEN. Since conception, kConFab has collected data on more than 1,900 multigenerational, multi-case kindreds.

kConFab itself is not a research organisation in the usual sense, but rather provides a resource upon which researchers can draw. The aims of the consortium are to make data and biospecimens widely available to researchers for use in peer-reviewed, ethically approved funded research projects on familial aspects of breast cancer. At present, kConFab is supplying biological specimens and data to more than 180 research projects world-wide.

Why is kConFab so important?

kConFab is regarded, both nationally and internationally, as a model for how genetic and epidemiologic studies of this type can and should be done. What makes kConFab unique is the large number of families and individuals who are enrolled in the study and the depth of information available about each of them. Furthermore, researchers who use kConFab material agree to return their results of their research to kConFab after publication, thereby further enhancing the resource.
By collecting biological samples, environmental and epidemiological data from affected women and their close relatives of all in these families, kConFab is creating an increasingly powerful resource for researchers to, for example,

    • find new genes that cause or contribute to inherited breast cancer
    • understand the environmental factors that affect the onset and course of the disease in high risk groups
    • more accurately predict the consequences for a person who carries a mutation in BRCA1, BRCA2, PALB2, ATM, p53, pTEN or other predisposing genes
    • Search for genes that delay or ameliorate breast cancer in women who inherit mutations in high risk genes
    • Improve counselling and psychological support to women and their families at high risk
    • Improve surveillance and early detection of disease in high risk women.

To help our community understand the latest science and treatments in the hereditary cancer space, the National Manager of kConFab, A/Prof Heather Thorne, will present at July’s EduEvening on what the current landscape looks like for those with a familial predisposition, what current research projects at kConFab are of interest to our community and will provide a glimpse into what we can expect in the future specifically in regard to tumour testing, immunotherapy and other new treatments.

Content for this blog was sourced from the kConFab website.

On Tuesday 28th July, Pink Hope will hosted our Edu eveing session alongside A/Prof Heather Thorne, National Manager of kConFab. Click to learn on the evening more about:

    • Who kConFab is and the role they play in familial cancer research
    • The advances we can expect to see in the hereditary cancer space
    • An outline of current research projects kConFab is involved in
    • Insight into new genes that have been discovered that cause or contribute to inherited cancers
    • The importance of tumour testing and how it impacts treatment options for cancer patients

Click to watch the recording, HERE