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Type: Journal article
Title: Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource
Author: Mann, G.
Thorne, H.
Balleine, R.
Butow, P.
Clarke, C.
Edkins, E.
Evans, G.
Fereday, S.
Haan, E.
Gattas, M.
Giles, G.
Goldblatt, J.
Hopper, J.
Kirk, J.
Leary, J.
Lindeman, G.
Niedermayr, E.
Phillips, K.
Picken, S.
Pupo, G.
et al.
Citation: Breast Cancer Research, 2006; 8(1):1-15
Publisher: Biomed Central Ltd
Issue Date: 2006
ISSN: 1465-5411
Statement of
Graham J Mann, Heather Thorne, Rosemary L Balleine, Phyllis N Butow, Christine L Clarke, Edward Edkins, Gerda M Evans, Sian Fereday, Eric Haan, Michael Gattas, Graham G Giles, Jack Goldblatt, John L Hopper, Judy Kirk, Jennifer A Leary, Geoffrey Lindeman, Eveline Niedermayr, Kelly-Anne Phillips, Sandra Picken, Gulietta M Pupo, Christobel Saunders, Clare L Scott, Amanda B Spurdle, Graeme Suthers, Kathy Tucker and Georgia Chenevix-Trench
Abstract: INTRODUCTION: The Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) is a multidisciplinary, collaborative framework for the investigation of familial breast cancer. Based in Australia, the primary aim of kConFab is to facilitate high-quality research by amassing a large and comprehensive resource of epidemiological and clinical data with biospecimens from individuals at high risk of breast and/or ovarian cancer, and from their close relatives. METHODS: Epidemiological, family history and lifestyle data, as well as biospecimens, are collected from multiple-case breast cancer families ascertained through family cancer clinics in Australia and New Zealand. We used the Tyrer-Cuzick algorithms to assess the prospective risk of breast cancer in women in the kConFab cohort who were unaffected with breast cancer at the time of enrolment in the study. RESULTS: Of kConFab's first 822 families, 518 families had multiple cases of female breast cancer alone, 239 had cases of female breast and ovarian cancer, 37 had cases of female and male breast cancer, and 14 had both ovarian cancer as well as male and female breast cancer. Data are currently held for 11,422 people and germline DNAs for 7,389. Among the 812 families with at least one germline sample collected, the mean number of germline DNA samples collected per family is nine. Of the 747 families that have undergone some form of mutation screening, 229 (31%) carry a pathogenic or splice-site mutation in BRCA1 or BRCA2. Germline DNAs and data are stored from 773 proven carriers of BRCA1 or BRCA1 mutations. kConFab's fresh tissue bank includes 253 specimens of breast or ovarian tissue â both normal and malignant â including 126 from carriers of BRCA1 or BRCA2 mutations. CONCLUSION: These kConFab resources are available to researchers anywhere in the world, who may apply to kConFab for biospecimens and data for use in ethically approved, peer-reviewed projects. A high calculated risk from the Tyrer-Cuzick algorithms correlated closely with the subsequent occurrence of breast cancer in BRCA1 and BRCA2 mutation positive families, but this was less evident in families in which no pathogenic BRCA1 or BRCA2 mutation has been detected.
Keywords: Kathleen Cuningham Consortium for Research in Familial Breast Cancer
Breast Neoplasms
Ovarian Neoplasms
Specimen Handling
Data Collection
Risk Factors
Epidemiologic Studies
Cohort Studies
DNA Mutational Analysis
Life Style
Age of Onset
Germ-Line Mutation
Genes, BRCA1
Genes, BRCA2
Aged, 80 and over
Middle Aged
Tissue Banks
New Zealand
Rights: © 2006 Mann et al.; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
DOI: 10.1186/bcr1377
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