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F. and Yannoukakos, Drakoulis and Yoon, Sook-Yee and Zanzottera, Cristina and Zidan, Jamal and Zorn, Kristin K. and Selkirk, Christina G. Hutten and Hulick, Peter J. and Chenevix-Trench, Georgia and Spurdle, Amanda B. and Antoniou, Antonis C. and Nathanson, Katherine L. (2018) Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. HUMAN MUTATION, 39 (5). pp. 593-620. ISSN 1059-7794, 1098-1004
Full text not available from this repository. (Request a copy)Abstract
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | BREAST-CANCER PATIENTS; GERMLINE MUTATIONS; FOUNDER MUTATIONS; HIGH-RISK; HAPLOTYPE ANALYSIS; HEREDITARY BREAST; PHENOTYPE ANALYSIS; 185DELAG MUTATION; RECURRENT BRCA1; GENE-MUTATIONS; BRCA1; BRCA2; breast cancer; ethnicity; geography; mutation; ovarian cancer |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 09 Mar 2020 14:10 |
| Last Modified: | 09 Mar 2020 14:10 |
| URI: | https://pred.uni-regensburg.de/id/eprint/14609 |
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