BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research
| Autor: | Alice S. Whittemore, Regina M. Santella, Ruby T. Senie, Andrew K. Godwin, Irene L. Andrulis, Hilmi Ozcelik, Wendy K. Chung, John L. Hopper, Saundra S. Buys, Melissa C. Southey, Jeniffer Iriondo-Perez, Mary B. Daly, Susan L. Neuhausen, Alexander Miron, Mary Beth Terry, Daniela Seminara, Esther M. John |
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| Rok vydání: | 2008 |
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Proband
Heterozygote Cancer Research endocrine system diseases DNA Mutational Analysis Genes BRCA2 Genes BRCA1 Breast Neoplasms Biology Article Breast cancer Germline mutation medicine Humans Genetic Predisposition to Disease Registries skin and connective tissue diseases Germ-Line Mutation Genetics Cancer medicine.disease Founder Effect Pedigree Oncology Genetic epidemiology Jews Mutation (genetic algorithm) Female Breast disease Founder effect |
| Zdroj: | Breast Cancer Research and Treatment. 116:379-386 |
| ISSN: | 1573-7217 0167-6806 |
| DOI: | 10.1007/s10549-008-0153-8 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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