title: Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource.
abstract: BACKGROUND
  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--both normal and malignant--including 126 from carriers of BRCA1 or BRCA2 mutations.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead Hospital, Westmead, New South Wales, Australia. gmann@mail.usyd.edu.au
authors.forename: Graham J
authors.initials: GJ
authors.lastname: Mann
authors.forename: Heather
authors.initials: H
authors.lastname: Thorne
authors.forename: Rosemary L
authors.initials: RL
authors.lastname: Balleine
authors.forename: Phyllis N
authors.initials: PN
authors.lastname: Butow
authors.forename: Christine L
authors.initials: CL
authors.lastname: Clarke
authors.forename: Edward
authors.initials: E
authors.lastname: Edkins
authors.forename: Gerda M
authors.initials: GM
authors.lastname: Evans
authors.forename: Sián
authors.initials: S
authors.lastname: Fereday
authors.forename: Eric
authors.initials: E
authors.lastname: Haan
authors.forename: Michael
authors.initials: M
authors.lastname: Gattas
authors.forename: Graham G
authors.initials: GG
authors.lastname: Giles
authors.forename: Jack
authors.initials: J
authors.lastname: Goldblatt
authors.forename: John L
authors.initials: JL
authors.lastname: Hopper
authors.forename: Judy
authors.initials: J
authors.lastname: Kirk
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Leary
authors.forename: Geoffrey
authors.initials: G
authors.lastname: Lindeman
authors.forename: Eveline
authors.initials: E
authors.lastname: Niedermayr
authors.forename: Kelly-Anne
authors.initials: KA
authors.lastname: Phillips
authors.forename: Sandra
authors.initials: S
authors.lastname: Picken
authors.forename: Gulietta M
authors.initials: GM
authors.lastname: Pupo
authors.forename: Christobel
authors.initials: C
authors.lastname: Saunders
authors.forename: Clare L
authors.initials: CL
authors.lastname: Scott
authors.forename: Amanda B
authors.initials: AB
authors.lastname: Spurdle
authors.forename: Graeme
authors.initials: G
authors.lastname: Suthers
authors.forename: Kathy
authors.initials: K
authors.lastname: Tucker
authors.forename: Georgia
authors.initials: G
authors.lastname: Chenevix-Trench
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000465:Algorithms; D001315:Australia; D001943:Breast Neoplasms / Q000235:genetics*; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D003625:Data Collection; D016021:Epidemiologic Studies; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D018095:Germ-Line Mutation; D006801:Humans; D008019:Life Style; D008875:Middle Aged; D009520:New Zealand; D010051:Ovarian Neoplasms / Q000235:genetics*; D010375:Pedigree; D012106:Research / Q000458:organization & administration; D012307:Risk Factors; D013048:Specimen Handling; D014015:Tissue Banks