ECE2014 Poster Presentations Thyroid Cancer (70 abstracts)
Coexistence of mutations in the CHEK2 and BRAFV600E genes and their impact on the course of the papillary thyroid carcinoma (PTC)
Danuta Gasior-Perczak 1 , Aldona Kowalska 1 , Iwona Palyga 1 , Agnieszka Walczyk 1 , Monika Siolek 2 , Artur Kowalik 2 , Ryszard Mezyk 1 & Stanislaw Gozdz 3
1Department of Endocrinology, Holycross Cancer Centre, Kielce, Poland; 2Department of Molecular Diagnostics, Holycross Cancer Centre, Kielce, Poland; 3Department of Chemotherapy, Holycross Cancer Centre, Kielce, Poland.
Introduction: The activating BRAFV600E is the most common genetic alteration in PTC. There is a common belief that it can correlate with a more aggressive clinical course. The mutation of the CHEK2 gene impairs the repair processes of the damaged DNA. It can be expected that the coexistence of both mutations can be related to a worse clinical course.
Aim: To assess the prevalence of the coexistence of the CHEK2 and BRAFV600E mutations and their impact on the severity of the PTC.
Material: The study consisted of 201 patients with PTC, females: 180 (89.6%), males: 21 (10.4%), aged 15–74 years.
Methods: Patients underwent testing of the CHEK2 gene using PCR-HRM and sequencing of DNA isolated from peripheral blood. The presence of the BRAFV600E mutation was evaluated by direct sequencing. Patient’s age and disease severity at diagnosis and the coexistence of the CHEK2 and BRAFV600E mutations in the evaluated group was assessed.
Results: Coexistence of the CHEK2 and BRAFV600E mutations was found in 28/201 patients (13.9%). The CHECK2 alone was found in 13/201 (6.5%) and the BRAFV600E mutation alone was found in 109/201 (54.2%), 51/201 (25.4%) patients had no mutation. There was no significant difference in age, sex in particular groups. Stage of the disease progression in the group with coexistent CHEK2 and BRAFV600E mutations: I-71.4%; II-3.6%; III-17.9%; IV-7.1%; in 109 patients with the BRAFV600E mutation alone: I-62.4%; II-1.8%; III-34.9%; IV-0.9%; in 13 patients with the CHEK2 mutation alone: I-69.2%; II-15.4%; III-7.7%; IV-7.7%; in 51 patients without mutation: I-82.3%; II-0%; III-11.8%; IV-5.9%. The reported difference was not statistically significant.
Conclusions: i) Coexistence of the CHEK2 and BRAFV600E mutations was found in 13.9% PTC patients.
ii) There was no observed influence of the coexistent CHEK2 and BRAFV600E mutations on the severity of the disease at diagnosis.
iii) Further research on larger group are necessary to evaluate the significance of the coexistence of both analyzed mutations.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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