Capillary electrophoresis as alternative method to detect tumor genetic mutations: the model built on the founder BRCA1 c.4964_4982del19 variant
| العنوان: | Capillary electrophoresis as alternative method to detect tumor genetic mutations: the model built on the founder BRCA1 c.4964_4982del19 variant |
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| المؤلفون: | Giovanni Scambia, Ettore Capoluongo, Gianfranco Zannoni, Angelo Minucci, Giovanni Luca Scaglione, Elisa De Paolis, Maria De Bonis |
| المساهمون: | De Bonis, M., Minucci, A., Scaglione, G. L., De Paolis, E., Zannoni, G., Scambia, G., Capoluongo, Ettore Domenico |
| المصدر: | Familial Cancer. 18:29-35 |
| بيانات النشر: | Springer Science and Business Media LLC, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | 0301 basic medicine, Cancer Research, Genotyping Techniques, BRCA1/2 gene, Loss of Heterozygosity, Computational biology, 030105 genetics & heredity, Biology, Polymorphism, Single Nucleotide, Sensitivity and Specificity, Germline, 03 medical and health sciences, 0302 clinical medicine, Capillary electrophoresis, Cancer risk assessment, Genetics, Humans, Genetic Predisposition to Disease, Genotyping, Germ-Line Mutation, Genetics (clinical), Ovarian Neoplasms, Alternative methods, BRCA1 Protein, Ovarian Neoplasm, Genetic Carrier Screening, Electrophoresis, Capillary, Diagnostic strategy, Founder Effect, Human genetics, Feasibility Studie, Capillary electrophoresi, Italy, Oncology, 030220 oncology & carcinogenesis, Feasibility Studies, Female, Genotyping Technique, Italian founder BRCA1/2 mutation, Human, Founder effect |
| الوصف: | Despite some populations show a wide spectrum of different BRCA pathogenic variants (PVs), particular ethnic groups carry at high frequency a single or a few recurrent PVs, usually due to a founder effect. The identification of these founder PVs, with simple molecular methods, improves BRCA1/2 testing and cancer risk assessment. In this study, we developed a rapid and reliable PCR method, coupled with capillary electrophoresis (CE) for genotyping the Italian founder BRCA1 c.4964_4982del19 (rs80359876) variant. In addition, we compared the performance of two CE platforms: (Agilent 2100 Bioanalyzer and the Experion Automated Electrophoresis system) to identify this variant. Our findings suggest that CE represents a simple and standardized diagnostic strategy for the unambiguously identification of the BRCA1 c.4964_4982del19 variant, on both germline and somatic DNA samples. The results and performance obtained by two platforms are absolutely superimposable in terms of specificity and sensitivity, as well as for their feasibility, time of analysis and costs. |
| تدمد: | 1573-7292 1389-9600 8035-9876 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6999111b28af0bb501f717a3e4ca7e1bTest https://doi.org/10.1007/s10689-018-0094-2Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....6999111b28af0bb501f717a3e4ca7e1b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15737292 13899600 80359876 |
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