The Landscape of Single Nucleotide Polymorphisms in Papillary Thyroid Carcinoma

Kyrodimos, Efthymios; Chrysovergis, Aristeidis; Mastronikolis, Nicholas; Papanastasiou, George; Tsiambas, Evangelos; Spyropoulou, Despoina; Katsinis, Spyros; Manoli, Arezina; Papouliakos, Sotirios; Pantos, Pavlos; Ragos, Vasileios; Peschos, Dimitrios; Papanikolaou, Vasileios

doi:10.21873/cdp.10175

Cited by 6 publications

(5 citation statements)

References 43 publications

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“…The term polymorphism refers to the presence in two or more variant forms of a specific DNA sequence in different individuals. Single-nucleotide polymorphisms (SNPs) are the most common type of polymorphisms that involve variations in a single nucleotide [30]. It is known that the presence of SNPs within the coding regions of genes can modify the amino acid sequence of the encoded products causing non-synonymous substitutions that can alter protein structure, then impairing its function [31,32].…”

Section: Role Of Nqo1 Polymorphisms In Ovarian Cancermentioning

confidence: 99%

The Role of NQO1 in Ovarian Cancer

Tossetta

Fantone

Goteri

et al. 2023

IJMS

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Ovarian cancer is one of the most dangerous gynecologic malignancies showing a high fatality rate because of late diagnosis and relapse occurrence due to chemoresistance onset. Several researchers reported that oxidative stress plays a key role in ovarian cancer occurrence, growth and development. The NAD(P)H:quinone oxidoreductase 1 (NQO1) is an antioxidant enzyme that, using NADH or NADPH as substrates to reduce quinones to hydroquinones, avoids the formation of the highly reactive semiquinones, then protecting cells against oxidative stress. In this review, we report evidence from the literature describing the effect of NQO1 on ovarian cancer onset and progression.

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Section: Role Of Nqo1 Polymorphisms In Ovarian Cancermentioning

confidence: 99%

The Role of NQO1 in Ovarian Cancer

Tossetta

Fantone

Goteri

et al. 2023

IJMS

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“…Nucleotide changes in various gene locations may lead to carcinogenesis by either the overactivation of oncogenes or by silencing the suppressor genes. Germline mutations occur familiarly, therefore they are inherited, and they can modify the genomic profile, increasing the risk of future cancers, such as thyroid cancer [ 12 , 13 , 14 ].…”

Section: Single Nucleotide Polymorphism and Thyroid Cancermentioning

confidence: 99%

“…An SNP hosts a variation in the DNA sequence involving a single nucleotide. The mechanism behind these SNPs usually involves point mutations/substitutions, deletions, insertions, or base-pair multiple repeats [ 12 ]. Determining SNPs is a facile and common way to detect genetic variation, making them an easy target for genetic research.…”

Section: Single Nucleotide Polymorphism and Thyroid Cancermentioning

confidence: 99%

The Role of Genetic Polymorphisms in Differentiated Thyroid Cancer: A 2023 Update

Tiucă

Paşcanu

2023

Biomedicines

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Thyroid cancer is the most common endocrine malignancy, with an increasing trend in the past decades. It has a variety of different histological subtypes, the most frequent one being differentiated thyroid cancer, which refers to papillary carcinoma, the most common histological type, followed by follicular carcinoma. Associations between genetic polymorphisms and thyroid cancer have been investigated over the years and are an intriguing topic for the scientific world. To date, the results of associations of single nucleotide polymorphisms, the most common genetic variations in the genome, with thyroid cancer have been inconsistent, but many promising results could potentially influence future research toward developing new targeted therapies and new prognostic biomarkers, thus consolidating a more personalized management for these patients. This review focuses on emphasizing the existing literature data regarding genetic polymorphisms investigated for their potential association with differentiated thyroid cancer and highlights the opportunity of using genetic variations as biomarkers of diagnosis and prognosis for thyroid cancer patients.

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“…SNPs are the most common genetic variations in genome (Stratton MR, 2009) and some heterogeneities in nucleotides can push the sequence of genes into a malignant genotype leading to formation of cancer cells . (Jawad.Z.N and, Awad, W.2020) ( Morphological heterogeneities increase the likelihood of thyroid cancer and its progression, as the study found that it has a significant impact on patients with all types of thyroid cancer (Kaubryte J and Lai AG, 2022) (Kyrodimos, E., et al 2023) The morphological variations in BRAF have an important impact on the formation of tumors and the incidence of different types of cancers as well as thyroid cancer, also its associated with rectal cancer and colon cancer , and affect the size and seriousness of the tumor as well as increase the mortality rate. (Shaalan, A., et al 2022)…”

Section: Introductionmentioning

confidence: 99%

Molecular study of BRAF gene polymorphisms and the association with mtDNA copy number in thyroid cancer

2023

JPTCP

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TC is one of the most common types of endocrine cancer in the world, the incidence of thyroid cancer has increased recently, ranking 13th among the most common cancers and the most sixth among women. Females had the highest incidence of illness and death compared to males. Thyroid cancer has been associated with genetic changes where mtDNA and its relationship to the Cancer have been studied, the morphological variations in the BRAF gene and their effect on TC patients have been studied.. The study samples were collected from patients of Warith International Cancer Institute in Kerbala / Iraq, the study included (100 samples) were 50 for patients and 50 for control , DNA measured inside mitochondria by Quantitive Polymerase Chain Reaction (QPCR) , and morphological variations of the BRAF gene were detected on 5 samples of patients against one of control sample with the sequencing the result of this study was shown that there is two new SNPs (rs2128998142 and rs2128998351) were detected in the BRAF gene and the current study found an association with thyroid cancer. The mtDNA content was associated with the risk of thyroid cancer, copy number of mitochondrial DNA for the ND1 gene compared to the normal HGB gene increased by a very large percentage in patients with thyroid cancer for the control group. Our findings lead us to hypothesize that an increase in the number of mitochondrial DNA copies in leukocytes may be associated with oxidative DNA damage and operate as a separate risk factor for thyroid cancer ( TC )

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The Landscape of Single Nucleotide Polymorphisms in Papillary Thyroid Carcinoma

Cited by 6 publications

References 43 publications

The Role of NQO1 in Ovarian Cancer

The Role of NQO1 in Ovarian Cancer

The Role of Genetic Polymorphisms in Differentiated Thyroid Cancer: A 2023 Update

Molecular study of BRAF gene polymorphisms and the association with mtDNA copy number in thyroid cancer

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