kConFab: Strengthening Australia’s leading resource for understanding inherited breast cancer risk

The challenge:

Breast cancer will affect one in seven women in Australia their lifetime. For some families, the risk of developing breast cancer is much higher due to inherited mutations in genes such as BRCA1 and BRCA2 that greatly increases their chance of developing breast, ovarian or prostate cancers. Understanding these inherited risks is essential to improve prevention, early detection, treatment and outcomes for these families.

The Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) is a national research resource dedicated to improving outcomes for these high-risk families. For more than 26 years, kConFab has recruited more than 2,360 families with strong histories of breast cancer. By collecting blood samples, cancer and normal tissue, genetic information, lifestyle data and detailed medical histories, kConFab has created one of the world’s most comprehensive collections of familial cancer data.

This resource supports researchers across Australia and globally. To date, 218 research projects have relied on kConFab, with one-third active for more than two decades – demonstrating the resource’s long-term scientific value. Research using kConFab has enabled discoveries in hereditary breast, ovarian and prostate cancers. kConFab has contributed to the discovery of several important breast cancer associated genes, improved national and international screening guidelines, and guided treatment decisions for people with BRCA1 and BRCA2 gene mutations.

Project description:

In this NBCF-funded project, Professor Christobel Saunders and her team at the Peter MacCallum Cancer Centre, Melbourne, will commence the next phase of kConFab to strengthen, maintain and expand this resource so it remains relevant for contemporary research needs, novel therapies and emerging technologies.

The team is focused on improving the diversity of kConFab by recruiting more families from Aboriginal and Torres Strait Islander communities and culturally and linguistically diverse (CALD) backgrounds to support research programs addressing health inequities. In addition, they aim to collect tumour, blood and clinical data from women newly diagnosed with breast cancer who have mutations in their BRCA1 and BRCA2 genes for new biomarker studies.

kConFab will also continue to expand their annual biospecimen collection for early detection of high-risk breast cancer, integrate imaging and health outcomes to support machine learning projects in cancer risk stratification and diagnosis, and maintain its extensive current resource to improve prevention, early detection and treatment to improve outcomes in families affected by hereditary cancers.

Potential impact:

By strengthening and expanding this vital research resource, kConFab will continue to drive discoveries in cancer genetics, early detection, and personalised prevention and treatment strategies. The expanded dataset will support research into new genetic risk factors, early detection tools, lifestyle influences, and improved therapies for people carrying inherited gene mutations such as BRCA1 and BRCA2.

Ultimately, this project will empower families to understand their risk and make informed choices, leading to better outcomes and progress toward reducing deaths from breast cancer.

Grant code: 2025/RPG0042
Active years: 2026-2029
Scientific project title: kConFab. The Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer