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. |
Other formats:
BibTeX
LaTeX
RIS
@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.
|