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Title:
Analysis of cancer risk and BRCA1 and BRCA2mutation prevalence in the kConFab familial breast cancer resource | Breast Cancer Research
Description:
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
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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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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
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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
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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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type:Organization
name:Gerda M Evans
affiliation:
name:Breast Cancer Network Australia
address:
name:Breast Cancer Network Australia, Camberwell, Australia
type:PostalAddress
type:Organization
name:Sián Fereday
affiliation:
name:The Cancer Council Victoria
address:
name:Cancer Epidemiology Centre, The Cancer Council Victoria, Melbourne, Australia
type:PostalAddress
type:Organization
name:Eric Haan
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
type:Organization
name:University of Adelaide
address:
name:Department of Paediatrics, University of Adelaide, Australia
type:PostalAddress
type:Organization
name:Michael Gattas
affiliation:
name:Royal Children's Hospital
address:
name:Queensland Clinical Genetics Service, Royal Children's Hospital, Brisbane, Australia
type:PostalAddress
type:Organization
name:Graham G Giles
affiliation:
name:The Cancer Council Victoria
address:
name:Cancer Epidemiology Centre, The Cancer Council Victoria, Melbourne, Australia
type:PostalAddress
type:Organization
name:Jack Goldblatt
affiliation:
name:University of Western Australia
address:
name:Genetic Services of Western Australia, King Edward's Memorial Hospital, School of Paediatrics and Child Health, University of Western Australia, Perth, Australia
type:PostalAddress
type:Organization
name:John L Hopper
affiliation:
name:University of Melbourne
address:
name:Centre for Genetic Epidemiology, University of Melbourne, Melbourne, Australia
type:PostalAddress
type:Organization
name:Judy Kirk
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
type:Organization
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
type:Organization
name:Geoffrey Lindeman
affiliation:
name:Royal Melbourne Hospital
address:
name:Familial Cancer Centre, Royal Melbourne Hospital, Parkville, Australia
type:PostalAddress
type:Organization
name:Eveline Niedermayr
affiliation:
name:Peter MacCallum Cancer Centre
address:
name:Research Division, Peter MacCallum Cancer Centre, East Melbourne, Australia
type:PostalAddress
type:Organization
name:Kelly-Anne Phillips
affiliation:
name:Peter MacCallum Cancer Centre
address:
name:Division of Hematology and Medical Oncology, Peter MacCallum Cancer Centre, East Melbourne, Australia
type:PostalAddress
type:Organization
name:Sandra Picken
affiliation:
name:Peter MacCallum Cancer Centre
address:
name:Research Division, Peter MacCallum Cancer Centre, East Melbourne, Australia
type:PostalAddress
type:Organization
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
type:Organization
name:Christobel Saunders
affiliation:
name:University of Western Australia
address:
name:School of Surgery and Pathology, University of Western Australia, Perth, Australia
type:PostalAddress
type:Organization
name:Clare L Scott
affiliation:
name:Royal Parade
address:
name:Walter and Eliza Hall Institute of Medical Research, Royal Parade, Parkville, Australia
type:PostalAddress
type:Organization
name:Amanda B Spurdle
affiliation:
name:The Queensland Institute of Medical Research
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
type:Organization
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
affiliation:
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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