Standard

Highly Sensitive and Reliable Detection of EGFR Exon 19 Deletions by Droplet Digital Polymerase Chain Reaction. / Oskina, Natalya; Oscorbin, Igor; Khrapov, Evgeniy et al.

In: Molecular Diagnosis and Therapy, Vol. 21, No. 5, 01.10.2017, p. 555-562.

Research output: Contribution to journalArticlepeer-review

Harvard

Oskina, N, Oscorbin, I, Khrapov, E, Boyarskikh, U, Subbotin, D, Demidova, I, Imyanitov, E & Filipenko, M 2017, 'Highly Sensitive and Reliable Detection of EGFR Exon 19 Deletions by Droplet Digital Polymerase Chain Reaction', Molecular Diagnosis and Therapy, vol. 21, no. 5, pp. 555-562. https://doi.org/10.1007/s40291-017-0281-0

APA

Oskina, N., Oscorbin, I., Khrapov, E., Boyarskikh, U., Subbotin, D., Demidova, I., Imyanitov, E., & Filipenko, M. (2017). Highly Sensitive and Reliable Detection of EGFR Exon 19 Deletions by Droplet Digital Polymerase Chain Reaction. Molecular Diagnosis and Therapy, 21(5), 555-562. https://doi.org/10.1007/s40291-017-0281-0

Vancouver

Oskina N, Oscorbin I, Khrapov E, Boyarskikh U, Subbotin D, Demidova I et al. Highly Sensitive and Reliable Detection of EGFR Exon 19 Deletions by Droplet Digital Polymerase Chain Reaction. Molecular Diagnosis and Therapy. 2017 Oct 1;21(5):555-562. doi: 10.1007/s40291-017-0281-0

Author

Oskina, Natalya ; Oscorbin, Igor ; Khrapov, Evgeniy et al. / Highly Sensitive and Reliable Detection of EGFR Exon 19 Deletions by Droplet Digital Polymerase Chain Reaction. In: Molecular Diagnosis and Therapy. 2017 ; Vol. 21, No. 5. pp. 555-562.

BibTeX

@article{16103a64f6414786a9fed30c1163f6a3,
title = "Highly Sensitive and Reliable Detection of EGFR Exon 19 Deletions by Droplet Digital Polymerase Chain Reaction",
abstract = "Background: Analysis of EGFR mutations is becoming a routine clinical practice but the optimal EGFR mutation testing method is still to be determined. Methods: We determined the nucleotide sequence of deletions located in exon 19 of the EGFR gene in lung tumor samples of patients residing in different regions of Russia (153 tumor DNA specimens), using Sanger sequencing. We developed a droplet digital polymerase chain reaction assay capable of detecting all common EGFR deletions in exon 19. We also compared the therascreen amplification refractory mutation system assay with a droplet digital polymerase chain reaction assay for the detection of all the deletions in our study. Results: The droplet digital polymerase chain reaction assay demonstrated 100% sensitivity against polymerase chain reaction fragment length analysis and detected all possible types of deletions revealed in our study (22 types). At the same time, the therascreen EGFR RGQ PCR Kit was not able to detect deletions c.2252-2276>A and c.2253-2276 and showed low performance for another long deletion. Conclusion: Thus, we can conclude that the extraordinary length of deletions and their atypical locations (shift at the 3′-region compared to known deletions) could be problematic for the therascreen EGFR RGQ PCR Kit and should be taken into account during targeted mutation test development. However, droplet digital polymerase chain reaction is a promising and reliable assay that can be used as a diagnostic tool to genotype formalin-fixed paraffin-embedded cancer samples for EGFR or another clinically relevant somatic mutation.",
author = "Natalya Oskina and Igor Oscorbin and Evgeniy Khrapov and Ulyana Boyarskikh and Dmitriy Subbotin and Irina Demidova and Evgeny Imyanitov and Maxim Filipenko",
year = "2017",
month = oct,
day = "1",
doi = "10.1007/s40291-017-0281-0",
language = "English",
volume = "21",
pages = "555--562",
journal = "Molecular Diagnosis and Therapy",
issn = "1177-1062",
publisher = "Springer Nature",
number = "5",

}

RIS

TY - JOUR

T1 - Highly Sensitive and Reliable Detection of EGFR Exon 19 Deletions by Droplet Digital Polymerase Chain Reaction

AU - Oskina, Natalya

AU - Oscorbin, Igor

AU - Khrapov, Evgeniy

AU - Boyarskikh, Ulyana

AU - Subbotin, Dmitriy

AU - Demidova, Irina

AU - Imyanitov, Evgeny

AU - Filipenko, Maxim

PY - 2017/10/1

Y1 - 2017/10/1

N2 - Background: Analysis of EGFR mutations is becoming a routine clinical practice but the optimal EGFR mutation testing method is still to be determined. Methods: We determined the nucleotide sequence of deletions located in exon 19 of the EGFR gene in lung tumor samples of patients residing in different regions of Russia (153 tumor DNA specimens), using Sanger sequencing. We developed a droplet digital polymerase chain reaction assay capable of detecting all common EGFR deletions in exon 19. We also compared the therascreen amplification refractory mutation system assay with a droplet digital polymerase chain reaction assay for the detection of all the deletions in our study. Results: The droplet digital polymerase chain reaction assay demonstrated 100% sensitivity against polymerase chain reaction fragment length analysis and detected all possible types of deletions revealed in our study (22 types). At the same time, the therascreen EGFR RGQ PCR Kit was not able to detect deletions c.2252-2276>A and c.2253-2276 and showed low performance for another long deletion. Conclusion: Thus, we can conclude that the extraordinary length of deletions and their atypical locations (shift at the 3′-region compared to known deletions) could be problematic for the therascreen EGFR RGQ PCR Kit and should be taken into account during targeted mutation test development. However, droplet digital polymerase chain reaction is a promising and reliable assay that can be used as a diagnostic tool to genotype formalin-fixed paraffin-embedded cancer samples for EGFR or another clinically relevant somatic mutation.

AB - Background: Analysis of EGFR mutations is becoming a routine clinical practice but the optimal EGFR mutation testing method is still to be determined. Methods: We determined the nucleotide sequence of deletions located in exon 19 of the EGFR gene in lung tumor samples of patients residing in different regions of Russia (153 tumor DNA specimens), using Sanger sequencing. We developed a droplet digital polymerase chain reaction assay capable of detecting all common EGFR deletions in exon 19. We also compared the therascreen amplification refractory mutation system assay with a droplet digital polymerase chain reaction assay for the detection of all the deletions in our study. Results: The droplet digital polymerase chain reaction assay demonstrated 100% sensitivity against polymerase chain reaction fragment length analysis and detected all possible types of deletions revealed in our study (22 types). At the same time, the therascreen EGFR RGQ PCR Kit was not able to detect deletions c.2252-2276>A and c.2253-2276 and showed low performance for another long deletion. Conclusion: Thus, we can conclude that the extraordinary length of deletions and their atypical locations (shift at the 3′-region compared to known deletions) could be problematic for the therascreen EGFR RGQ PCR Kit and should be taken into account during targeted mutation test development. However, droplet digital polymerase chain reaction is a promising and reliable assay that can be used as a diagnostic tool to genotype formalin-fixed paraffin-embedded cancer samples for EGFR or another clinically relevant somatic mutation.

UR - http://www.scopus.com/inward/record.url?scp=85020296618&partnerID=8YFLogxK

U2 - 10.1007/s40291-017-0281-0

DO - 10.1007/s40291-017-0281-0

M3 - Article

AN - SCOPUS:85020296618

VL - 21

SP - 555

EP - 562

JO - Molecular Diagnosis and Therapy

JF - Molecular Diagnosis and Therapy

SN - 1177-1062

IS - 5

ER -

ID: 10186538