ArticleHereditary cancer in clinical practice2015
The c.470 T > C CHEK2 missense variant increases the risk of differentiated thyroid carcinoma in the Great Poland population.
Article in Hereditary cancer in clinical practice, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.
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25 citing papers in PubMed, 2 syntheses or guidelines pooled it, 36 citations in OpenAlex.
- Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2023Guideline
- Rare variants in BRCA2 and CHEK2 are associated with the risk of urinary tract cancers.Scientific reports · 2016Pooled it
- Germline pathogenic variant spectrum and prevalence among colorectal cancer patients undergoing multigene panel testing in Kazakhstan.Scientific reports · 2026Article
- Genomic Ascertainment of CHEK2-Related Cancer Predisposition.JAMA network open · 2025Article
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- Identifying Rare Germline Variants Associated with Metastatic Prostate Cancer Through an Extreme Phenotype Study.medRxiv : the preprint server for health sciences · 2025Article
- Germline polymorphisms of the NOD2 pathway may predict the effectiveness of radioiodine in differentiated thyroid cancer treatment.Journal of endocrinological investigation · 2024Article
- CHEK2 germline variants identified in familial nonmedullary thyroid cancer lead to impaired protein structure and function.The Journal of biological chemistry · 2024Article
- Article
- Germline Variants and Characteristic Features of Hereditary Hematological Malignancy Syndrome.International journal of molecular sciences · 2024Review
- Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?European journal of human genetics : EJHG · 2023Article
- Germline CHEK2 and ATM Variants in Myeloid and Other Hematopoietic Malignancies.Current hematologic malignancy reports · 2022Review
- Review
- Germline pathogenic variants in cancer risk genes among patients with thyroid cancer and suspected predisposition.Cancer medicine · 2022Article
- CHEK2 mutations and papillary thyroid cancer: correlation or coincidence?Hereditary cancer in clinical practice · 2022Article
- A pathogenic variant in CHEK2 shows a founder effect in Portuguese Roma patients with thyroid cancer.Endocrine · 2021Article
- Disease spectrum of gastric cancer susceptibility genes.Medical oncology (Northwood, London, England) · 2021Article
- Incidence of theCancers · 2021Article
- Disease Spectrum of Breast Cancer Susceptibility Genes.Frontiers in oncology · 2021Article
- Review
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Authors and funding
15 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDifferentiated 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. AIM OF THE STUDY: 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.
methods602 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.
resultsThe results of genotyping showed the presence of the c.470C allele in 51 patients with a frequency of 4.49%, while in a controls in 42 patients with a frequency of 2.53%. We demonstrated that in the Great Poland population the c.470C CHEK2 variant increases the risk of developing differentiated thyroid cancer almost twice (OR = 1.81, p = 0.004). The risk of papillary thyroid carcinoma in female patients homozygous for the c.470C allele was shown to increase almost 13-fold (OR = 12.81, p = 0.019).
conclusionsIdentification of c.470C CHEK2 gene variant ought to be taken into account by healthcare policymakers. Future well-designed and larger population studies are of great value in confirming these findings. Moreover, a combination of genetic factors together with environmental exposures should also be considered.
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