Molecular genetics of thyroid cancer

Rebaї, Maha; Rebaї, Ahmed

doi:10.1017/s0016672316000057

Cited by 7 publications

(4 citation statements)

References 79 publications

(89 reference statements)

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“…Notably, among cancers with no Mendelian inheritance, PTC shows the highest relative risk in the first-degree relatives of probands. Despite this evidence indicating that PTC has a strong genetic component, the genes involved in PTC predisposition are poorly characterized [4]. Recently, FOXE1, a transcription factor expressed in the thyroid since early developmental stages and throughout adult life, has been associated with thyroid cancer susceptibility [5,6].…”

Section: Introductionmentioning

confidence: 99%

FOXE1 Gene Dosage Affects Thyroid Cancer Histology and Differentiation In Vivo

Credendino

Moccia

Amendola

et al. 2020

IJMS

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The transcription factor Forkhead box E1 (FOXE1) is a key player in thyroid development and function and has been identified by genome-wide association studies as a susceptibility gene for papillary thyroid cancer. Several cancer-associated polymorphisms fall into gene regulatory regions and are likely to affect FOXE1 expression levels. However, the possibility that changes in FOXE1 expression modulate thyroid cancer development has not been investigated. Here, we describe the effects of FOXE1 gene dosage reduction on cancer phenotype in vivo. Mice heterozygous for FOXE1 null allele (FOXE1+/−) were crossed with a BRAFV600E-inducible cancer model to develop thyroid cancer in either a FOXE1+/+ or FOXE1+/− genetic background. In FOXE1+/+ mice, cancer histological features are quite similar to that of human high-grade papillary thyroid carcinomas, while cancers developed with reduced FOXE1 gene dosage maintain morphological features resembling less malignant thyroid cancers, showing reduced proliferation index and increased apoptosis as well. Such cancers, however, appear severely undifferentiated, indicating that FOXE1 levels affect thyroid differentiation during neoplastic transformation. These results show that FOXE1 dosage exerts pleiotropic effects on thyroid cancer phenotype by affecting histology and regulating key markers of tumor differentiation and progression, thus suggesting the possibility that FOXE1 could behave as lineage-specific oncogene in follicular cell-derived thyroid cancer.

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Section: Introductionmentioning

confidence: 99%

FOXE1 Gene Dosage Affects Thyroid Cancer Histology and Differentiation In Vivo

Credendino

Moccia

Amendola

et al. 2020

IJMS

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“…The genetic bases for nearly all thyroid cancers have been solved through DNA sequencing studies. Most thyroid tumors harbor mutations that eventually activate MAPK and PI3K-AKT signaling pathways, which regulate cellular proliferation [3,40,41]. Furthermore, somatic RET mutations appear in 40–50% of sporadic MTCs and have been linked with a worse prognosis for patients.…”

Section: The Ret Proto-oncogene Rolementioning

confidence: 99%

Influencers on Thyroid Cancer Onset: Molecular Genetic Basis

Lasa

Fernández

Villalba‐Benito

et al. 2019

Genes

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Thyroid cancer, a cancerous tumor or growth located within the thyroid gland, is the most common endocrine cancer. It is one of the few cancers whereby incidence rates have increased in recent years. It occurs in all age groups, from children through to seniors. Most studies are focused on dissecting its genetic basis, since our current knowledge of the genetic background of the different forms of thyroid cancer is far from complete, which poses a challenge for diagnosis and prognosis of the disease. In this review, we describe prevailing advances and update our understanding of the molecular genetics of thyroid cancer, focusing on the main genes related with the pathology, including the different noncoding RNAs associated with the disease.

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“…These mutations are common in more than 70% of papillary carcinoma which suggest that activation of this signaling pathway is essential for tumor initiation and that the modification of a pathway single effector is sufficient for cell transformation [ 6 , 7 ]. Other molecular risk factors include the predisposition of single nucleotides polymorphism (SNP) to thyroid cancer [ 8 ]. Among the predisposing factors for thyroid cancer is the SNP in the genes coding vascular endothelial growth factor, fibroblast growth factor, angiopoietins-1 and − 2 and angiogenin [ 9 , 10 ].…”

Section: Introductionmentioning

confidence: 99%

Study of single nucleotide polymorphism of vascular endothelium factor in patients with differentiated thyroid cancer

Motawea

Zaki

Saif

et al. 2022

Clin Diabetes Endocrinol

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Background Genetic alterations and high levels of the vascular endothelial growth factor (VEGF) are presumptive risk factors for differentiated thyroid cancer (DTC). Objective This work aims to study the presence of − 634G/C polymorphism of vascular endothelial growth factor (rs2010963) and its’ serum level in patients with DTC and comparing these results with those of the control subjects. Material and method The study was a retrograde case–control study that included seventy patients with DTCin addition to seventy apparently healthy control subjects. Blood sample was taken and subjected to study of − 634G/C VEGF polymorphism (rs2010963) by real time PCR and measurement of its’ plasma level by immunoassay kit (ELISA). Results Regarding genotyping of VEGFA − 634G/C (rs2010963) polymorphism, there was significant increase in CG and GG genotypes (28.6%, 18.6% respectively) among patients compared to control subjects (20.0%, 4.3% respectively) and significant increase in CC genotype in control subjects (75.7%) compared to patients (52.9%), P = 0.001. The VEGF mean ± SD level was significantly elevated in patients compared to control subjects (1215.81 ± 225.78 versus 307.16 ± 91.81, P = 0.006). Moreover, there was significant increase in VEGF levels in patients with CG and GG genotypes (1295.9 ± 68.74, 1533.08 ± 109.95, respectively) compared to patients with CC genotype (1061 163.25), P = 0.001). Conclusion There was significant increase in GG and CG genotypes in patients with DTC compared to control subjects which may suggest a predisposing role for these genotypes in development of DTC. Moreover, there was significant increase in serum level of vascular endothelial growth factor in patients with GG and CG genotypes which may reflect the mechanism of these genotypes in development of DTC.

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Molecular genetics of thyroid cancer

Cited by 7 publications

References 79 publications

FOXE1 Gene Dosage Affects Thyroid Cancer Histology and Differentiation In Vivo

FOXE1 Gene Dosage Affects Thyroid Cancer Histology and Differentiation In Vivo

Influencers on Thyroid Cancer Onset: Molecular Genetic Basis

Study of single nucleotide polymorphism of vascular endothelium factor in patients with differentiated thyroid cancer

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