kConFab: a unique Australasian research initiative for familial breast cancer

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The Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab) is a unique Australasian research co-operative which brings together geneticists, clinicians, surgeons, scientists, pathologists, psychologists, oncologists and epidemiologists from 32 institutions in New Zealand and the five mainland States of Australia. The aims of the Consortium are to identify Australasian families with predisposition to breast/ovarian cancer through Familial Cancer Clinics in Australia and New Zealand, to identify the predisposing genes and characterise germline mutations. The study aims to determine the effect of the type of mutation and the influence of lifestyle and environmental factors on the type, age of onset and severity of cancer, the response of the patients to treatment and the psychosocial consequences. In addition to genetic, epidemiological and medical data, kConFab obtains and stores clinical samples, DNA, RNA, tumour and prophylactically removed tissue. All data are stored in a relational database that is accessible for approved basic and clinical research projects.

As of January 2000, kConFab has identified over 700 Australasian families, who have presented at Family Cancer Clinics with exceptionally severe histories of breast or breast/ovarian cancer and features suggesting a dominantly-inherited predisposition to the disease. To date, over 2200 individuals have consented to donate blood and complete questionnaires concerning their health, diet and lifestyle. By the end of the accrual phase of the study (2002), kConFab expects to have accumulated genetic and epidemiological information on at least 7000 members of high-risk families, including first and second degree relatives of all mutation carriers and individuals affected with breast or ovarian cancer. Further information about kConFab may be found on our website at http://www.pmci.unimelb.edu.au/kconfab.