title: BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research.
abstract: The Breast Cancer Family Registry is a resource for interdisciplinary and translational studies of the genetic epidemiology of breast cancer. This resource is available to researchers worldwide for collaborative studies. Herein, we report the results of testing for germline mutations in BRCA1 and BRCA2. We have tested 4,531 probands for mutations in BRCA1 and 4,084 in BRCA2. Deleterious mutations in BRCA1 and BRCA2 were identified for 9.8% of probands tested [233/4,531 (5.1%) for BRCA1 and 193/4,084 (4.7%) for BRCA2]. Of 1,385 Ashkenazi Jewish women tested for only the three founder mutations, 17.4% carried a deleterious mutation. In total, from the proband and subsequent family testing, 1,360 female mutation carriers (788 in BRCA1, 566 in BRCA2, 6 in both BRCA1 and BRCA2) have been identified. The value of the resource has been greatly enhanced by determining the germline BRCA1 and BRCA2 mutation statuses of nearly 6,000 probands.
authors.affiliation: Department of Epidemiology, University of California Irvine, Irvine, CA 92697-7550, USA. sneuhaus@uci.edu
authors.forename: Susan L
authors.initials: SL
authors.lastname: Neuhausen
authors.forename: Hilmi
authors.initials: H
authors.lastname: Ozcelik
authors.forename: Melissa C
authors.initials: MC
authors.lastname: Southey
authors.forename: Esther M
authors.initials: EM
authors.lastname: John
authors.forename: Andrew K
authors.initials: AK
authors.lastname: Godwin
authors.forename: Wendy
authors.initials: W
authors.lastname: Chung
authors.forename: Jeniffer
authors.initials: J
authors.lastname: Iriondo-Perez
authors.forename: Alexander
authors.initials: A
authors.lastname: Miron
authors.forename: Regina M
authors.initials: RM
authors.lastname: Santella
authors.forename: Alice
authors.initials: A
authors.lastname: Whittemore
authors.forename: Irene L
authors.initials: IL
authors.lastname: Andrulis
authors.forename: Saundra S
authors.initials: SS
authors.lastname: Buys
authors.forename: Mary B
authors.initials: MB
authors.lastname: Daly
authors.forename: John L
authors.initials: JL
authors.lastname: Hopper
authors.forename: Daniela
authors.initials: D
authors.lastname: Seminara
authors.forename: Ruby T
authors.initials: RT
authors.lastname: Senie
authors.forename: Mary Beth
authors.initials: MB
authors.lastname: Terry
mesh_terms: D001943:Breast Neoplasms / Q000453:epidemiology* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D018703:Founder Effect; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D007585:Jews / Q000235:genetics; D010375:Pedigree; D012042:Registries