BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research.
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.
Neuhausen
Susan L
SL
Department of Epidemiology, University of California Irvine, Irvine, CA 92697-7550, USA. sneuhaus@uci.edu
Ozcelik
Hilmi
H
Southey
Melissa C
MC
John
Esther M
EM
Godwin
Andrew K
AK
Chung
Wendy
W
Iriondo-Perez
Jeniffer
J
Miron
Alexander
A
Santella
Regina M
RM
Whittemore
Alice
A
Andrulis
Irene L
IL
Buys
Saundra S
SS
Daly
Mary B
MB
Hopper
John L
JL
Seminara
Daniela
D
Senie
Ruby T
RT
Terry
Mary Beth
MB
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