The c.470 T > C CHEK2 missense variant increases the risk of differentiated thyroid carcinoma in the Great Poland population

Hereditary Cancer in Clinical Practice
Marta Kaczmarek-RyśAndrzej Pławski

Abstract

Differentiated thyroid carcinoma (DTC) originates from thyroid follicular epithelial cells and belongs to a group of slowly progressing tumors with a relatively good prognosis. However, recurrences and metastases are a serious problem in advanced stages. Furthermore, progression from a well differentiated thyroid carcinoma to an aggressive anaplastic one is possible. The majority of differentiated thyroid carcinomas are sporadic but a few alleles increasing the cancer risk are known. One of them is the c.470 T > C (p.I157T, rs17879961) missense substitution in the CHEK2 gene. The aim of this study was to investigate whether this specific CHEK2 alteration, c.470 T > C, predisposes the Great Poland (Wielkopolska) population to thyroid cancer. 602 differentiated thyroid carcinoma patients and 829 controls randomly selected from population were genotyped for the presence of the c.470C allele using pyrosequencing. Hardy-Weinberg Equilibrium (HWE) was tested for both groups by chi-square distribution and Fisher's exact test. The odds ratios (ORs), 95% confidence intervals (CIs), and p-values were calculated using the R software. The results of genotyping showed the presence of the c.470C allele in 51 patients with a frequency of 4.49...Continue Reading

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Oct 9, 2015·Molecular Diagnosis & Therapy·Pawel BorunAndrzej Plawski
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Sep 24, 2021·Annales d'endocrinologie·Tiago da Silva SantosAndré Couto de Carvalho

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Methods Mentioned

BETA
biopsy
genotyping
Assay

Software Mentioned

Review Manager
PyroMark Assay Design
R

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