The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control
Open accessAbstract
Detection of mutations in hereditary breast and ovarian cancer-related BRCA1 and BRCA2 genes is an effective method of cancer prevention and early detection. Different ethnic and geographical regions have different BRCA1 and BRCA2 mutation spectrum and prevalence. Along with the emerging targeted therapy, demand and uptake for rapid BRCA1/2 mutations testing will increase in a near future. However, current patients selection and genetic testing strategies in most countries impose significant lag in this practice. The knowledge of the genetic structure of particular populations is important for the developing of effective screening protocol and may provide more efficient approach for the individualization of genetic testing. Elucidating of founder effect in BRCA1/2 genes can have an impact on the management of hereditary cancer families on a national and international healthcare system level, making genetic testing more affordable and cost-effective. The purpose of this review is to summarize current evidence about the BRCA1/2 founder mutations diversity in European populations.
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Cites
Inhibition of Poly(ADP-Ribose) Polymerase in Tumors from BRCA Mutation Carriers
Fong, P. C., Boss, D. S., Yap, T. A., Tutt, A., Wu, P., Mergui-Roelvink, M., Mortimer, P., Swaisland, H., Lau, A., O'Connor, M. J., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0900212 · Cited by 3,634
Cited by
Fidler, M. M., Gupta, S., Soerjomataram, I., Ferlay, J., Steliarova-Foucher, E., & Bray, F. (2017) · The Lancet Oncology · doi:10.1016/s1470-2045(17)30677-0 · Cited by 579
Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes
Dorschner, M. O., Amendola, L. M., Turner, E. H., Robertson, P. D., Shirts, B. H., Gallego, C. J., Bennett, R. L., Jones, K. L., Tokita, M. J., Bennett, J. T., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.08.006 · Cited by 385
Actionable exomic incidental findings in 6503 participants: challenges of variant classification
Amendola, L. M., Dorschner, M. O., Robertson, P. D., Salama, J. S., Hart, R., Shirts, B. H., Murray, M. L., Tokita, M. J., Gallego, C. J., Kim, D. S., et al. (2015) · Genome Research · doi:10.1101/gr.183483.114 · Cited by 363
Metadata
- Authors
- Janavičius, R.
- Venue
- EPMA Journal
- Published
- 2010-06-27
- Volume
- 1
- Issue
- 3
- Pages
- 397-412
- ISSN
- 1878-5077 (ISSN-L)
- 1878-5085
- OpenAlex
- W2093883839
- Cited by
- 223
- References
- 1
- FWCI
- 2.68
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Janavičius, R. (2010). Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. EPMA Journal. https://doi.org/10.1007/s13167-010-0037-y
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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