Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource

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dc.contributor.authorMann, G.
dc.contributor.authorThorne, H.
dc.contributor.authorBalleine, R.
dc.contributor.authorButow, P.
dc.contributor.authorClarke, C.
dc.contributor.authorEdkins, E.
dc.contributor.authorEvans, G.
dc.contributor.authorFereday, S.
dc.contributor.authorHaan, E.
dc.contributor.authorGattas, M.
dc.contributor.authorGiles, G.
dc.contributor.authorGoldblatt, J.
dc.contributor.authorHopper, J.
dc.contributor.authorKirk, J.
dc.contributor.authorLeary, J.
dc.contributor.authorLindeman, G.
dc.contributor.authorNiedermayr, E.
dc.contributor.authorPhillips, K.
dc.contributor.authorPicken, S.
dc.contributor.authorPupo, G.
dc.contributor.authoret al.
dc.date.issued2006
dc.description.abstractINTRODUCTION: 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.
dc.description.statementofresponsibilityGraham 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
dc.identifier.citationBreast Cancer Research, 2006; 8(1):1-15
dc.identifier.doi10.1186/bcr1377
dc.identifier.issn1465-5411
dc.identifier.issn1465-542X
dc.identifier.orcidHaan, E. [0000-0002-7310-5124]
dc.identifier.urihttp://hdl.handle.net/2440/23252
dc.language.isoen
dc.publisherBiomed Central Ltd
dc.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 (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
dc.source.urihttps://doi.org/10.1186/bcr1377
dc.subjectKathleen Cuningham Consortium for Research in Familial Breast Cancer
dc.subjectHumans
dc.subjectBreast Neoplasms
dc.subjectOvarian Neoplasms
dc.subjectSpecimen Handling
dc.subjectData Collection
dc.subjectRisk Factors
dc.subjectEpidemiologic Studies
dc.subjectCohort Studies
dc.subjectPedigree
dc.subjectDNA Mutational Analysis
dc.subjectLife Style
dc.subjectAge of Onset
dc.subjectGerm-Line Mutation
dc.subjectGenes, BRCA1
dc.subjectGenes, BRCA2
dc.subjectAlgorithms
dc.subjectResearch
dc.subjectAdult
dc.subjectAged
dc.subjectAged, 80 and over
dc.subjectMiddle Aged
dc.subjectTissue Banks
dc.subjectAustralia
dc.subjectNew Zealand
dc.subjectFemale
dc.titleAnalysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource
dc.typeJournal article
pubs.publication-statusPublished

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