ArticleGenes, chromosomes & cancer2014
Variants in the ATM-CHEK2-BRCA1 axis determine genetic predisposition and clinical presentation of papillary thyroid carcinoma.
Article in Genes, chromosomes & cancer, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 5 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
42 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Polymorphism rs1801516 (G > A) in theThe Journal of international medical research · 2020Pooled it
- Association between ATM rs1801516 polymorphism and cancer susceptibility: a meta-analysis involving 12,879 cases and 18,054 controls.BMC cancer · 2018Pooled it
- Pooled it
- Rare variants in BRCA2 and CHEK2 are associated with the risk of urinary tract cancers.Scientific reports · 2016Pooled it
- Updated field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma: the MelGene database.The Journal of investigative dermatology · 2015Pooled it
- The secreted protein SPARCL1 suppresses tumor progression in papillary thyroid carcinoma via SLC3A2-mediated ferroptosis.Endocrine-related cancer · 2026Article
- The Occurrence of Gene Fusions in Thyroid Lesions and the Relation With Chronic Lymphocytic Thyroiditis.Pathology international · 2026Article
- Homologous Recombination in Thyroid Tumor Samples.International journal of molecular sciences · 2025Article
- Combination Therapy With Olaparib Plus Lenvatinib in a Patient WithJCO precision oncology · 2025Article
- Single-Nucleotide Polymorphisms of BRCA1 and BRCA2 and Risk of Papillary Thyroid Carcinoma.Cancers · 2025Article
- Clinically Relevant Germline Variants in Children With Nonmedullary Thyroid Cancer.The Journal of clinical endocrinology and metabolism · 2024Article
- Polymorphisms of DNA Repair Genes in Thyroid Cancer.International journal of molecular sciences · 2024Review
- Article
- Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer.Frontiers in oncology · 2024Review
- p18INK4C and BRCA1 inhibit follicular cell proliferation and dedifferentiation in thyroid cancer.Cell cycle (Georgetown, Tex.) · 2023Article
- Global trends inFrontiers in oncology · 2023Article
- 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
- Identification of NID1 as a novel candidate susceptibility gene for familial non-medullary thyroid carcinoma using whole-exome sequencing.Endocrine connections · 2022Article
Corrections and comments
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Authors and funding
12 authors.
Funding
Abstract
The risk of developing papillary thyroid carcinoma (PTC), the most frequent form of thyroid malignancy, is elevated up to 8.6-fold in first-degree relatives of PTC patients. The familial risk could be explained by high-penetrance mutations in yet unidentified genes, or polygenic action of low-penetrance alleles. Since the DNA-damaging exposure to ionizing radiation is a known risk factor for thyroid cancer, polymorphisms in DNA repair genes are likely to affect this risk. In a search for low-penetrance susceptibility alleles we employed Sequenom technology to genotype deleterious polymorphisms in ATM, CHEK2, and BRCA1 in 1,781 PTC patients and 2,081 healthy controls. As a result of the study, we identified CHEK2 rs17879961 (OR = 2.2, P = 2.37e-10) and BRCA1 rs16941 (odds ratio [OR] = 1.16, P = 0.005) as risk alleles for PTC. The ATM rs1801516 variant modifies the risk associated with the BRCA1 variant by 0.78 (P = 0.02). Both the ATM and BRCA1 variants modify the impact of male gender on clinical variables: T status (P = 0.007), N status (P = 0.05), and stage (P = 0.035). Our findings implicate an important role of variants in the ATM- CHEK2- BRCA1 axis in modification of the genetic predisposition to PTC and its clinical manifestations.
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