The occurrence of mutations in the CHEK2 gene in patients with papillary thyroid carcinoma and its impact on the course of the disease and the coexistence of other neoplasms

A. Kowalska; D. Gasior-Perczak; I. Palyga; M. Siolek; B. Kozak-Klonowska; A. Kowalik; J. Lubinski; C. Cybulski; R. Mezyk; S. Gozdz

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Endocrine Abstracts (2012) 29 P1789

ICEECE2012 Poster Presentations Thyroid cancer (108 abstracts)

The occurrence of mutations in the CHEK2 gene in patients with papillary thyroid carcinoma and its impact on the course of the disease and the coexistence of other neoplasms

A. Kowalska ¹ , D. Gasior-Perczak ¹ , I. Palyga ¹ , M. Siolek ¹ , B. Kozak-Klonowska ¹ , A. Kowalik ¹ , J. Lubinski ² , C. Cybulski ² , R. Mezyk ¹ & S. Gozdz ¹

Err

Author affiliations

¹Holycross Cancer Centre, Kielce, Poland; ²Pomeranian Medical University, Szczecin, Poland.

Introduction: CHEK2 is a gene encoding a protein involved in the mechanism of repairing damaged DNA. Mutations in the CHEK2 gene are associated with an increased risk of various neoplasms. The most common mutations in the Polish population are: I157T, less frequently IVS2+1G> A and 1100delC.

Materials: The study consisted of 277 patients with papillary thyroid carcinoma: 252 female, 25 male, aged 15 to 76 years.

Method: Patients underwent testing of the CHEK2 gene using PCR-HRM and sequencing of DNA isolated from peripheral blood. Age, severity of disease at diagnosis and the incidence of other neoplasms were assessed.

Results: Mutations in the CHEK2 gene were confirmed in a total of 47 patients, of which 38 had I157T mutation, and 9 had IVS2+1 G> A mutation.

The average age of the patients at the moment of making the diagnosis was 48 years old, both in the groups with or without the mutation.

Stage of disease progression in carriers of CHEK2 mutations at time of diagnosis (n=47): I-72%, II-11%, III-11%, IVA-6%.

Stage of disease progression in patients without mutations at time of diagnosis (n=230): I-77.4%, II-6.5%, III-12.6%, IVA-3%, IVC-0.5%. The reported differences were not statistically significant (P=0.5727).

Occurrence of other neoplasms were found in 28% (13/47) of patients with the mutation compared to 5.2% (12/230) of patients without mutations in the CHEK2 gene. The reported difference was statistically significant (P<0.0001).

Conclusions: i) Mutation of the CHEK2 gene are present in 17% of patients with papillary thyroid carcinoma.

ii) The occurrence of mutations in the CHEK2 gene are associated with a higher risk for other neoplasms, most often breast cancer especially in the case of I157T mutation (21%).

iii) There was no observed influence of mutations in the CHEK2 gene on the degree of advancement of neoplasm at the time of diagnosis.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.