| VÁVROVÁ, Eva, Barbara KANTOROVÁ, Barbara VONKOVÁ, Jitka KABÁTHOVÁ, H. SKUHROVA-FRANCOVA, Eva DIVÍŠKOVÁ, Ondřej LETOCHA, Jana KOTAŠKOVÁ, Yvona BRYCHTOVÁ, Michael DOUBEK, Jiří MAYER and Šárka POSPÍŠILOVÁ. Fragment analysis represents a suitable approach for the detection of hotspot c.7541_7542delCT NOTCH1 mutation in chronic lymphocytic leukemia. Leukemia Research. Oxford: Pergamon-Elsevier Science LTD, 2017, vol. 60, SEP 2017, p. 145-150. ISSN 0145-2126. Available from: https://dx.doi.org/10.1016/j.leukres.2017.08.001. |
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@article{1400037,
author = {Vávrová, Eva and Kantorová, Barbara and Vonková, Barbara and Kabáthová, Jitka and SkuhrovaandFrancova, H. and Divíšková, Eva and Letocha, Ondřej and Kotašková, Jana and Brychtová, Yvona and Doubek, Michael and Mayer, Jiří and Pospíšilová, Šárka},
article_location = {Oxford},
article_number = {SEP 2017},
doi = {http://dx.doi.org/10.1016/j.leukres.2017.08.001},
keywords = {CLL; NOTCH1 mutation; Fragment analysis; Sequencing; Allele-specific PCR},
language = {eng},
issn = {0145-2126},
journal = {Leukemia Research},
title = {Fragment analysis represents a suitable approach for the detection of hotspot c.7541_7542delCT NOTCH1 mutation in chronic lymphocytic leukemia},
volume = {60},
year = {2017}
}
TY - JOUR
ID - 1400037
AU - Vávrová, Eva - Kantorová, Barbara - Vonková, Barbara - Kabáthová, Jitka - Skuhrova-Francova, H. - Divíšková, Eva - Letocha, Ondřej - Kotašková, Jana - Brychtová, Yvona - Doubek, Michael - Mayer, Jiří - Pospíšilová, Šárka
PY - 2017
TI - Fragment analysis represents a suitable approach for the detection of hotspot c.7541_7542delCT NOTCH1 mutation in chronic lymphocytic leukemia
JF - Leukemia Research
VL - 60
IS - SEP 2017
SP - 145-150
EP - 145-150
PB - Pergamon-Elsevier Science LTD
SN - 01452126
KW - CLL
KW - NOTCH1 mutation
KW - Fragment analysis
KW - Sequencing
KW - Allele-specific PCR
N2 - 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.
ER -
VÁVROVÁ, Eva, Barbara KANTOROVÁ, Barbara VONKOVÁ, Jitka KABÁTHOVÁ, H. SKUHROVA-FRANCOVA, Eva DIVÍŠKOVÁ, Ondřej LETOCHA, Jana KOTAŠKOVÁ, Yvona BRYCHTOVÁ, Michael DOUBEK, Jiří MAYER and Šárka POSPÍŠILOVÁ. Fragment analysis represents a suitable approach for the detection of hotspot c.7541\_{}7542delCT NOTCH1 mutation in chronic lymphocytic leukemia. \textit{Leukemia Research}. Oxford: Pergamon-Elsevier Science LTD, 2017, vol.~60, SEP 2017, p.~145-150. ISSN~0145-2126. Available from: https://dx.doi.org/10.1016/j.leukres.2017.08.001.
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