Association of ATM Gene Polymorphism with PTC Metastasis in Female Patients

Gu, Yan; Liu, Xiaoli; Yu, Yaqin; Shi, Jieping; Ai, Lizhe; Sun, Hui; Kanu, Joseph Sam; Wang, Chong; Liu, Yawen

doi:10.1155/2014/370825

Cited by 12 publications

(12 citation statements)

References 46 publications

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“…They also found frequent mutations in the MED12 and MET genes in metastatic PTCs (54). Other genes reported to play a role in metastatic behavior of PTCs include TERT, ATM, RAS, and RET/PTC (8,(56)(57)(58). Gandolfi et al in their study of metastatic PTC found that the THYT1 genetic signature, comprising of duplications in chromosomal regions 1q and 5p (harboring the TERT genomic locus), and TERT promoter mutations, was a highly specific marker of distant metastasis in PTCs (59).…”

Section: Discussionmentioning

confidence: 99%

Whole-Exome Sequencing of Matched Primary and Metastatic Papillary Thyroid Cancer

Masoodi

Siraj

et al. 2020

Thyroid

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Background: Distant metastasis is a rare occurrence in thyroid cancer, and it can be associated with poor prognosis. The genomic repertoires of various solid malignancies have previously been reported but remain underexplored in metastatic papillary thyroid cancer (PTC). Furthermore, whether distant metastases harbor distinct genetic alterations beyond those observed in primary tumors is unknown. Methods: We performed whole-exome sequencing on 14 matched distant metastases, primary PTC tumors, and normal tissues. Point mutations, copy number alterations, cancer cell fractions, and mutational signatures were defined using the state-of-the-art bioinformatics methods. All likely deleterious variants were validated by orthogonal methods. Results: Genomic differences were observed between primary and distant metastatic deposits, with a median of 62% (range 21-92%) of somatic mutations detected in metastatic tissues, but absent from the corresponding primary tumor sample. Mutations in known driver genes including BRAF, NRAS, and HRAS were shared and preferentially clonal in both sites. However, likely deleterious variants affecting DNA methylation and transcriptional repression signaling genes including SIN3A, RBBP1, and CHD4 were found to be restricted in the metastatic lesions. Moreover, a mutational signature shift was observed between the mutations that are specific or enriched in the metastatic and primary lesions. Conclusions: Primary PTC and distant metastases differ in their range of somatic alterations. Genomic analysis of distant metastases provides an opportunity to identify potentially clinically informative alterations not detected in primary tumors, which might influence decisions for personalized therapy in PTC patients with distant metastasis.

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Section: Discussionmentioning

confidence: 99%

Whole-Exome Sequencing of Matched Primary and Metastatic Papillary Thyroid Cancer

Masoodi

Siraj

et al. 2020

Thyroid

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“…The polymorphism rs189037 is located at the 5′UTR of the promoter region of ATM gene ( Gu et al, 2014b ). It was evident from different studies that polymorphisms in the promoter region of a gene may change the binding sites of transcription factors, which affects gene expression.…”

Section: Discussionmentioning

confidence: 99%

ATM rs189037 (G>A) polymorphism and risk of lung cancer and head and neck cancer: A meta-analysis

et al. 2015

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A number of different epidemiological studies have measured the association between the risk of different cancers and polymorphism at promoter region of 5′ untranslated region (5′-UTR) of the Ataxia-telangiectasia mutated (ATM) gene. However the results were contentious rather than conclusive. The current study was aimed at evaluating the association between the SNP (rs189037 G>A) and the risk of head and neck cancer and lung cancer by conducting a meta-analysis. A total of 9 case–control studies were considered for this quantitative analysis. Stats Direct Statistical software (version 2.7.2) was used to evaluate the crude odds ratio (OR) with their 95% confidence interval (CI). The dominant model (GG vs. GA + AA) showed no heterogeneity and the fixed effects pooled OR was found to be significant (OR = 1.14, 95% CI = 1.05–1.25) at p = 0.003. The pooled OR for fixed effects of heterozygote and homozygote mutant allele (GA vs. AA) model was significant (OR = 1.17, 95% CI = 1.04–1.30, p = 0.006) and no heterogeneity was observed for this model. The current meta-analysis manifested that ATM rs189037 G>A genetic polymorphism may contribute increased risk of head and neck and lung cancer. Moreover, the AA mutant allele was found to be related significantly with the prognosis of lung cancer and head and neck cancer.

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“…For SNP genotyping, we used the Assay Designer 3.1 to design the primers of polymerase chain reaction (PCR): 5′-ACGTTGGATGCCACGATGACAGAGATATCC-3′ (forward) and 5′-ACGTTGGATGGAACTGAATTCCATGGGTTG-3′ (reverse). PCR was performed as previously published [ 26 ]. The genotyping of rs2910164 was done by MassARRAY system (Sequenom, San Diego, CA, USA) with the technology of Matrix-Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry (MALDI-TOF-MS).…”

Section: Methodsmentioning

confidence: 99%

Association of Pre-miR-146a rs2910164 Polymorphism with Papillary Thyroid Cancer

Zhang

Liu

et al. 2015

International Journal of Endocrinology

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The incidence rate of papillary thyroid cancer (PTC) has increased over the past decades, but the pathogenesis remains unclear. rs2910164, located in pre-miR-146a, has been studied in PTCs with different ethnicity, but the results were inconsistent. Here we evaluate the association between rs2910164 polymorphism and PTC and investigate the effect of this polymorphism on patients' clinicopathological characteristics. 1238 PTC patients and 1275 controls, all Han population, from Northern China, were included in our study. rs2910164 was genotyped using Matrix-Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry (MALDI-TOF-MS). Analysis of inheritance model was performed using the SNPStats program. Strength of association was assessed by odds ratio (OR) and 95% confidence interval (CI). Overall, no statistical difference in rs2910164 genotype distribution and allelic frequencies between cases and controls was found, and patients with different genotypes had similar clinicopathological characteristics in terms of stage, location, concurrent of benign thyroid tumor, and thyroiditis, while, as the number of G alleles increased, proportion of patients aged ≥45 years and those without metastasis increased (P trend < 0.001 and P trend = 0.003, resp.). However, no association remained significant after Bonferroni correction under any model of inheritance. Our results suggest no association between rs2910164 polymorphism with PTC and patients' clinicopathological characteristics.

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Association of ATM Gene Polymorphism with PTC Metastasis in Female Patients

Cited by 12 publications

References 46 publications

Whole-Exome Sequencing of Matched Primary and Metastatic Papillary Thyroid Cancer

Whole-Exome Sequencing of Matched Primary and Metastatic Papillary Thyroid Cancer

ATM rs189037 (G>A) polymorphism and risk of lung cancer and head and neck cancer: A meta-analysis

Association of Pre-miR-146a rs2910164 Polymorphism with Papillary Thyroid Cancer

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