Fragment analysis represents a suitable approach for the detection of hotspot c.7541_7542delCT NOTCH1 mutation in chronic lymphocytic leukemia
| Autor: | Jana Kotašková, Ondrej Letocha, Barbara Kantorová, Jitka Kabáthová, Michael Doubek, Eva Vavrova, Šárka Pospíšilová, Jiri Mayer, Barbara Vonková, Hana SkuhrováFrancová, Eva Divíšková, Yvona Brychtová |
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| Rok vydání: | 2017 |
| Předmět: |
Cancer Research
Chronic lymphocytic leukemia DNA Mutational Analysis Biology DNA sequencing 03 medical and health sciences symbols.namesake 0302 clinical medicine hemic and lymphatic diseases Mutation screening medicine Humans Receptor Notch1 Sanger sequencing Genetics High-Throughput Nucleotide Sequencing Hematology medicine.disease Molecular biology Leukemia Lymphocytic Chronic B-Cell Peptide Fragments Mutational analysis Oncology 030220 oncology & carcinogenesis embryonic structures Mutation cardiovascular system symbols sense organs biological phenomena cell phenomena and immunity Variants of PCR 030215 immunology |
| Zdroj: | Leukemia research. 60 |
| ISSN: | 1873-5835 |
| Popis: | The hotspot c.7541_7542delCT NOTCH1 mutation has been proven to have a negative clinical impact in chronic lymphocytic leukemia (CLL). However, an optimal method for its detection has not yet been specified. The aim of our study was to examine the presence of the NOTCH1 mutation in CLL using three commonly used molecular methods. Sanger sequencing, fragment analysis and allele-specific PCR were compared in the detection of the c.7541_7542delCT NOTCH1 mutation in 201 CLL patients. In 7 patients with inconclusive mutational analysis results, the presence of the NOTCH1 mutation was also confirmed using ultra-deep next generation sequencing. The NOTCH1 mutation was detected in 15% (30/201) of examined patients. Only fragment analysis was able to identify all 30 NOTCH1-mutated patients. Sanger sequencing and allele-specific PCR showed a lower detection efficiency, determining 93% (28/30) and 80% (24/30) of the present NOTCH1 mutations, respectively. Considering these three most commonly used methodologies for c.7541_7542delCT NOTCH1 mutation screening in CLL, we defined fragment analysis as the most suitable approach for detecting the hotspot NOTCH1 mutation. |
| Databáze: | OpenAIRE |
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