Detection of oncogenic mutations in cervical carcinoma using
method

J 2016

Detection of oncogenic mutations in cervical carcinoma using method "High Resolution Melting" (HRM).

WAYHELOVÁ, Markéta, Aneta MIKULÁŠOVÁ, Jan SMETANA, Vladimíra VALLOVÁ, Dita BLAŽKOVÁ et. al.

Basic information

Original name

Detection of oncogenic mutations in cervical carcinoma using method "High Resolution Melting" (HRM).

Authors

WAYHELOVÁ, Markéta (203 Czech Republic, belonging to the institution), Aneta MIKULÁŠOVÁ (203 Czech Republic, belonging to the institution), Jan SMETANA (203 Czech Republic, belonging to the institution), Vladimíra VALLOVÁ (703 Slovakia, belonging to the institution), Dita BLAŽKOVÁ (203 Czech Republic), Hana FILKOVÁ (203 Czech Republic), Lucie MOUKOVÁ (203 Czech Republic) and Petr KUGLÍK (203 Czech Republic, belonging to the institution)

Edition

Neoplasma, Slovenská akademie vied, 2016, 0028-2685

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

Genetics and molecular biology

Country of publisher

Slovakia

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 1.871

RIV identification code

RIV/00216224:14310/16:00090707

Organization unit

Faculty of Science

DOI

http://dx.doi.org/10.4149/neo_2016_516

UT WoS

000385211400016

Keywords in English

Sanger sequencing.; cervical carcinoma; high resolution melting; mutation

Abstract

V originále

Oncogenic mutations in proto-oncogenes and tumor suppressor genes represent one of key events in cancerogenesis. In this study, we analysed mutation status in PIK3CA, KRAS and EGFR proto-oncogenes and TP53 tumor suppressor gene in a cohort of twenty-four patients diagnosed with squamous cell carcinoma or adenocarcinoma using the screening method "High Resolution Melting" (HRM). Positive findings were confirmed and identified by Sanger sequencing. Totally, we detected DNA sequence changes in targeted regions in seven patients (7/24, 29.2%). In PIK3CA gene, we found six sequence changes in four patients (4/24, 16.7%) and four of them were confirmed as oncogenic mutations. In KRAS gene, we detected sequence changes in four patients (4/24, 16.7%). Conversely, we identified pathogenic or potentially pathogenic sequence changes neither in EGFR nor TP53 genes. Our results suggest that sequence changes are specific neither for a certain histological subtype, clinical stage nor lymph node involvement and they appear independently on the presence of HPV (human papillomavirus) infection since early clinical stages. We observed the correlation between the presence of DNA sequence changes and hTERC gene amplification, but we did not find a significant relationship between the identified DNA sequence changes and detected copy-number alterations using the technique of array-CGH (array-based comparative genomic hybridization). Regardless our results confirmed an important role of oncogenic mutations in PIK3CA and KRAS genes in the neoplastic transformation process in the cervical carcinoma pathogenesis. Their identification in the early clinical stages should encourage further studies to better understand these mutations and exploit them for more detailed diagnostics.

Links

EE2.3.20.0183, research and development project

Name: Centrum experimentální biomedicíny

Citovat

WAYHELOVÁ, Markéta, Aneta MIKULÁŠOVÁ, Jan SMETANA, Vladimíra VALLOVÁ, Dita BLAŽKOVÁ, Hana FILKOVÁ, Lucie MOUKOVÁ and Petr KUGLÍK. Detection of oncogenic mutations in cervical carcinoma using method "High Resolution Melting" (HRM). Neoplasma. Slovenská akademie vied, 2016, vol. 63, No 5, p. 779-788. ISSN 0028-2685. Available from: https://dx.doi.org/10.4149/neo_2016_516.

@article{1353261,
   author = {Wayhelová, Markéta and Mikulášová, Aneta and Smetana, Jan and Vallová, Vladimíra and Blažková, Dita and Filková, Hana and Mouková, Lucie and Kuglík, Petr},
   article_number = {5},
   doi = {http://dx.doi.org/10.4149/neo_2016_516},
   keywords = {Sanger sequencing.; cervical carcinoma; high resolution melting; mutation},
   language = {eng},
   issn = {0028-2685},
   journal = {Neoplasma},
   title = {Detection of oncogenic mutations in cervical carcinoma using method "High Resolution Melting" (HRM).},
   url = {http://www.ncbi.nlm.nih.gov/pubmed/27468883},
   volume = {63},
   year = {2016}
}

TY  - JOUR
ID  - 1353261
AU  - Wayhelová, Markéta - Mikulášová, Aneta - Smetana, Jan - Vallová, Vladimíra - Blažková, Dita - Filková, Hana - Mouková, Lucie - Kuglík, Petr
PY  - 2016
TI  - Detection of oncogenic mutations in cervical carcinoma using method "High Resolution Melting" (HRM).
JF  - Neoplasma
VL  - 63
IS  - 5
SP  - 779-788
EP  - 779-788
PB  - Slovenská akademie vied
SN  - 00282685
KW  - Sanger sequencing.
KW  - cervical carcinoma
KW  - high resolution melting
KW  - mutation
UR  - http://www.ncbi.nlm.nih.gov/pubmed/27468883
L2  - http://www.ncbi.nlm.nih.gov/pubmed/27468883
N2  - Oncogenic mutations in proto-oncogenes and tumor suppressor genes represent one of key events in cancerogenesis. In this study, we analysed mutation status in PIK3CA, KRAS and EGFR proto-oncogenes and TP53 tumor suppressor gene in a cohort of twenty-four patients diagnosed with squamous cell carcinoma or adenocarcinoma using the screening method "High Resolution Melting" (HRM). Positive findings were confirmed and identified by Sanger sequencing. Totally, we detected DNA sequence changes in targeted regions in seven patients (7/24, 29.2%). In PIK3CA gene, we found six sequence changes in four patients (4/24, 16.7%) and four of them were confirmed as oncogenic mutations. In KRAS gene, we detected sequence changes in four patients (4/24, 16.7%). Conversely, we identified pathogenic or potentially pathogenic sequence changes neither in EGFR nor TP53 genes. Our results suggest that sequence changes are specific neither for a certain histological subtype, clinical stage nor lymph node involvement and they appear independently on the presence of HPV (human papillomavirus) infection since early clinical stages. We observed the correlation between the presence of DNA sequence changes and hTERC gene amplification, but we did not find a significant relationship between the identified DNA sequence changes and detected copy-number alterations using the technique of array-CGH (array-based comparative genomic hybridization). Regardless our results confirmed an important role of oncogenic mutations in PIK3CA and KRAS genes in the neoplastic transformation process in the cervical carcinoma pathogenesis. Their identification in the early clinical stages should encourage further studies to better understand these mutations and exploit them for more detailed diagnostics.
ER  -

WAYHELOVÁ, Markéta, Aneta MIKULÁŠOVÁ, Jan SMETANA, Vladimíra VALLOVÁ, Dita BLAŽKOVÁ, Hana FILKOVÁ, Lucie MOUKOVÁ and Petr KUGLÍK. Detection of oncogenic mutations in cervical carcinoma using method ''High Resolution Melting'' (HRM). \textit{Neoplasma}. Slovenská akademie vied, 2016, vol.~63, No~5, p.~779-788. ISSN~0028-2685. Available from: https://dx.doi.org/10.4149/neo\_{}2016\_{}516.

Detailed Information on Publication Record