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.

Základní údaje

Originální název

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

Autoři

WAYHELOVÁ, Markéta (203 Česká republika, domácí), Aneta MIKULÁŠOVÁ (203 Česká republika, domácí), Jan SMETANA (203 Česká republika, domácí), Vladimíra VALLOVÁ (703 Slovensko, domácí), Dita BLAŽKOVÁ (203 Česká republika), Hana FILKOVÁ (203 Česká republika), Lucie MOUKOVÁ (203 Česká republika) a Petr KUGLÍK (203 Česká republika, domácí)

Vydání

Neoplasma, Slovenská akademie vied, 2016, 0028-2685

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

Genetika a molekulární biologie

Stát vydavatele

Slovensko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 1.871

Kód RIV

RIV/00216224:14310/16:00090707

Organizační jednotka

Přírodovědecká fakulta

DOI

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

UT WoS

000385211400016

Klíčová slova anglicky

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

Štítky

AKR, rivok

Změněno: 3. 4. 2017 11:54, Ing. Andrea Mikešková

Anotace

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.

Návaznosti

EE2.3.20.0183, projekt VaV

Název: Centrum experimentální biomedicíny

Citovat

WAYHELOVÁ, Markéta, Aneta MIKULÁŠOVÁ, Jan SMETANA, Vladimíra VALLOVÁ, Dita BLAŽKOVÁ, Hana FILKOVÁ, Lucie MOUKOVÁ a Petr KUGLÍK. Detection of oncogenic mutations in cervical carcinoma using method "High Resolution Melting" (HRM). Neoplasma. Slovenská akademie vied, 2016, roč. 63, č. 5, s. 779-788. ISSN 0028-2685. Dostupné z: 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 a Petr KUGLÍK. Detection of oncogenic mutations in cervical carcinoma using method ''High Resolution Melting'' (HRM). \textit{Neoplasma}. Slovenská akademie vied, 2016, roč.~63, č.~5, s.~779-788. ISSN~0028-2685. Dostupné z: https://dx.doi.org/10.4149/neo\_{}2016\_{}516.

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