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Keywords {🔍}

cancer, brca, breast, families, family, mutation, kconfab, risk, research, data, australia, mutations, individuals, article, ovarian, table, pubmed, women, genetic, google, scholar, cases, dna, cas, carriers, analysis, familial, testing, germline, projects, affected, cancers, including, high, female, information, full, collected, pathogenic, specimens, participants, consortium, clinical, cohort, individual, biospecimens, samples, members, variants, number,

Topics {✒️}

article download pdf xml-compliant front end au/publications/pdf/e35 multiple-case families susceptibility ficoll-hypaque separated lymphocytes breast-cancer related mutation hereditary breast cancer state-based cancer registries facilitate high-quality research tyrer-cuzick batch program genome-wide linkage study tcp-ip based application low-penetrance susceptibility replace population-based approaches potentially high-risk families australian cancer genetics familial breast cancer potentially high-risk individuals australian cancer network pro forma questionnaire tyrer-cuzick model case-control-family study brca2 mutation-negative families current population size male breast cancer genetic epidemiology community tyrer-cuzick algorithms population-based studies show brca1 gene identified multiple exon deletions high familial risk georgia chenevix-trench natl cancer inst privacy choices/manage cookies genetic linkage analysis family cancer clinics germline genetics meeting permit live access high penetrance mutation central core laboratory article number r12 health service developing breast cancer breast cancer due operative family registry clinic-based studies potentially high risk authors’ original file kathleen cuningham consortium tyrer-cuzick algorithm [23]

Questions {❓}

• Are population level familial risks and germline genetics meeting each other?

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      mainEntity:
         headline:Analysis of cancer risk and BRCA1 and BRCA2mutation prevalence in the kConFab familial breast cancer resource
         description: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. 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. 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 – both normal and malignant – including 126 from carriers of BRCA1 or BRCA2 mutations. 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.
         datePublished:2006-02-13T00:00:00Z
         dateModified:2006-02-13T00:00:00Z
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            Breast Cancer
            Ovarian Cancer
            BRCA2 Mutation
            Familial Breast Cancer
            Male Breast Cancer
            Cancer Research
            Oncology
            Surgical Oncology
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      headline:Analysis of cancer risk and BRCA1 and BRCA2mutation prevalence in the kConFab familial breast cancer resource
      description: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. 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. 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 – both normal and malignant – including 126 from carriers of BRCA1 or BRCA2 mutations. 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.
      datePublished:2006-02-13T00:00:00Z
      dateModified:2006-02-13T00:00:00Z
      pageStart:1
      pageEnd:15
      license:http://creativecommons.org/licenses/by/2.0/
      sameAs:https://doi.org/10.1186/bcr1377
      keywords:
         Breast Cancer
         Ovarian Cancer
         BRCA2 Mutation
         Familial Breast Cancer
         Male Breast Cancer
         Cancer Research
         Oncology
         Surgical Oncology
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         name:BioMed Central
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      author:
            name:Graham J Mann
            affiliation:
                  name:University of Sydney at Westmead Millennium Institute, Westmead Hospital
                  address:
                     name:Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead Hospital, Westmead, Australia
                     type:PostalAddress
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            type:Person
            name:Heather Thorne
            affiliation:
                  name:Peter MacCallum Cancer Centre
                  address:
                     name:Research Division, Peter MacCallum Cancer Centre, East Melbourne, Australia
                     type:PostalAddress
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            type:Person
            name:Rosemary L Balleine
            affiliation:
                  name:University of Sydney at Westmead Millennium Institute, Westmead Hospital
                  address:
                     name:Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead Hospital, Westmead, Australia
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            name:Phyllis N Butow
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                     type:PostalAddress
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            name:Christine L Clarke
            affiliation:
                  name:University of Sydney at Westmead Millennium Institute, Westmead Hospital
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            name:Edward Edkins
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            name:Gulietta M Pupo
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                  name:University of Sydney at Westmead Millennium Institute, Westmead Hospital
                  address:
                     name:Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead Hospital, Westmead, Australia
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            name:Christobel Saunders
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            name:Clare L Scott
            affiliation:
                  name:Royal Parade
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                     name:Walter and Eliza Hall Institute of Medical Research, Royal Parade, Parkville, Australia
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            name:Georgia Chenevix-Trench
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                  name:The Queensland Institute of Medical Research
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         name:Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead Hospital, Westmead, Australia
         type:PostalAddress
      name:Edith Cowen University
      address:
         name:Women's and Children's Health Service, Subiaco and Centre for Human Genetics, Edith Cowen University, Joondalup, Australia
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      name:Breast Cancer Network Australia
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         name:Breast Cancer Network Australia, Camberwell, Australia
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      name:University of Melbourne
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         name:Walter and Eliza Hall Institute of Medical Research, Royal Parade, Parkville, Australia
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         name:SA Clinical Genetics Service, Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, Australia
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         name:Hereditary Cancer Clinic, Prince of Wales Hospital, Sydney, Australia
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            name:University of Sydney at Westmead Millennium Institute, Westmead Hospital
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               name:Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead Hospital, Westmead, Australia
               type:PostalAddress
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      name:Heather Thorne
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      name:Rosemary L Balleine
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            name:University of Sydney at Westmead Millennium Institute, Westmead Hospital
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            address:
               name:Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead Hospital, Westmead, Australia
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            name:Edith Cowen University
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            address:
               name:Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead Hospital, Westmead, Australia
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      name:Jennifer A Leary
      affiliation:
            name:University of Sydney at Westmead Millennium Institute, Westmead Hospital
            address:
               name:Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead Hospital, Westmead, Australia
               type:PostalAddress
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      name:Geoffrey Lindeman
      affiliation:
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            address:
               name:Familial Cancer Centre, Royal Melbourne Hospital, Parkville, Australia
               type:PostalAddress
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      name:Eveline Niedermayr
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            address:
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               type:PostalAddress
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      name:Kelly-Anne Phillips
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            name:Peter MacCallum Cancer Centre
            address:
               name:Division of Hematology and Medical Oncology, Peter MacCallum Cancer Centre, East Melbourne, Australia
               type:PostalAddress
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      name:Sandra Picken
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            name:Peter MacCallum Cancer Centre
            address:
               name:Research Division, Peter MacCallum Cancer Centre, East Melbourne, Australia
               type:PostalAddress
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      name:Gulietta M Pupo
      affiliation:
            name:University of Sydney at Westmead Millennium Institute, Westmead Hospital
            address:
               name:Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead Hospital, Westmead, Australia
               type:PostalAddress
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      name:Christobel Saunders
      affiliation:
            name:University of Western Australia
            address:
               name:School of Surgery and Pathology, University of Western Australia, Perth, Australia
               type:PostalAddress
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      name:Clare L Scott
      affiliation:
            name:Royal Parade
            address:
               name:Walter and Eliza Hall Institute of Medical Research, Royal Parade, Parkville, Australia
               type:PostalAddress
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      name:Amanda B Spurdle
      affiliation:
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            address:
               name:The Queensland Institute of Medical Research, Brisbane, Australia
               type:PostalAddress
            type:Organization
      name:Graeme Suthers
      affiliation:
            name:Women's and Children's Hospital
            address:
               name:SA Clinical Genetics Service, Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, Australia
               type:PostalAddress
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      name:Kathy Tucker
      affiliation:
            name:Prince of Wales Hospital
            address:
               name:Hereditary Cancer Clinic, Prince of Wales Hospital, Sydney, Australia
               type:PostalAddress
            type:Organization
      name:Georgia Chenevix-Trench
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            name:The Queensland Institute of Medical Research
            address:
               name:The Queensland Institute of Medical Research, Brisbane, Australia
               type:PostalAddress
            type:Organization
      email:[email protected]
PostalAddress:
      name:Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead Hospital, Westmead, Australia
      name:Research Division, Peter MacCallum Cancer Centre, East Melbourne, Australia
      name:Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead Hospital, Westmead, Australia
      name:School of Psychology, University of Sydney, Australia
      name:Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead Hospital, Westmead, Australia
      name:Women's and Children's Health Service, Subiaco and Centre for Human Genetics, Edith Cowen University, Joondalup, Australia
      name:Breast Cancer Network Australia, Camberwell, Australia
      name:Cancer Epidemiology Centre, The Cancer Council Victoria, Melbourne, Australia
      name:SA Clinical Genetics Service, Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, Australia
      name:Department of Paediatrics, University of Adelaide, Australia
      name:Queensland Clinical Genetics Service, Royal Children's Hospital, Brisbane, Australia
      name:Cancer Epidemiology Centre, The Cancer Council Victoria, Melbourne, Australia
      name:Genetic Services of Western Australia, King Edward's Memorial Hospital, School of Paediatrics and Child Health, University of Western Australia, Perth, Australia
      name:Centre for Genetic Epidemiology, University of Melbourne, Melbourne, Australia
      name:Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead Hospital, Westmead, Australia
      name:Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead Hospital, Westmead, Australia
      name:Familial Cancer Centre, Royal Melbourne Hospital, Parkville, Australia
      name:Research Division, Peter MacCallum Cancer Centre, East Melbourne, Australia
      name:Division of Hematology and Medical Oncology, Peter MacCallum Cancer Centre, East Melbourne, Australia
      name:Research Division, Peter MacCallum Cancer Centre, East Melbourne, Australia
      name:Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead Hospital, Westmead, Australia
      name:School of Surgery and Pathology, University of Western Australia, Perth, Australia
      name:Walter and Eliza Hall Institute of Medical Research, Royal Parade, Parkville, Australia
      name:The Queensland Institute of Medical Research, Brisbane, Australia
      name:SA Clinical Genetics Service, Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, Australia
      name:Hereditary Cancer Clinic, Prince of Wales Hospital, Sydney, Australia
      name:The Queensland Institute of Medical Research, Brisbane, Australia

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