Novel RET Proto-oncogene variants identified in Turkish patients with thyroid carcinoma

Tural, Sengul; Yuce, Melek; Polat, Ayfer Kamalı; Tekcan, Esra; Çelik, Betül; Karabacak, Ufuk; Kara, Nurten

doi:10.1016/j.gene.2020.144611

Cited by 3 publications

(2 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In a recent study, Kim et al investigated miR604A>G polymorphism and found that miR604A>G polymorphism was statistically significant for recurrent implantation failure 13 . To confirm our results, further studies are needed by novel and detailed analysis 14 , 15 .…”

Section: Discussionsupporting

confidence: 63%

miR604A>G gene polymorphism is associated with recurrent pregnancy loss in Turkish women

Tekcan,

Coban,

Onal

et al. 2023

Rev. Assoc. Med. Bras.

Self Cite

View full text Add to dashboard Cite

SUMMARY OBJECTIVE: Recurrent pregnancy loss is considerably a reproductive health problem for couples. Genetic, epigenetic, and environmental factors play an important role in the development of recurrent pregnancy loss. While there are many causes, genetic and epigenetic factors are common. In this study, we aimed to examine the association between miR604 (rs2368393) A>G gene polymorphism and the risk of recurrent miscarriage in the Turkish population. METHODS: The study included 250 participants (i.e., 150 patients and 100 controls). DNA samples were isolated from peripheral blood, and polymerase chain reactions and restriction fragment length polymorphism methodologies were applied. RESULTS: The genotype distribution and allele frequencies of miR604A>G gene showed statistically significant differences between patients and control groups (p=0.002 and p<0.002, respectively). CONCLUSION: As a result of the study, we found that the AA genotype and A allele of the miR604A>G gene were statistically significant for the risk of recurrent pregnancy loss in Turkish women.

show abstract

Section: Discussionsupporting

confidence: 63%

miR604A>G gene polymorphism is associated with recurrent pregnancy loss in Turkish women

Tekcan,

Coban,

Onal

et al. 2023

Rev. Assoc. Med. Bras.

Self Cite

View full text Add to dashboard Cite

show abstract

“…In patients with MEN2A, PCC is reported to have a low metastatic rate (<5%) and show relatively well-differentiation [ 22 , 23 ], although there are some case reports of metastatic PCC with RET gene mutations [ 22 , 24 ]. Furthermore, the RET mutation in the present case is also associated with the metastasis of medullary thyroid carcinoma [ 25 , 26 ], indicating the potential for tumor development and malignancy. Moreover, this mutation tends to be observed in PCC in patients diagnosed with MEN2A [ 12 , 27 ].…”

Section: Discussionmentioning

confidence: 90%

A Case of 123I-Metaiodobenzylguanidine Scintigraphy-Negative Pheochromocytoma with a Tumor-Developing Mutation in the RET Gene

Kubo

Tsurutani

Sunouchi

et al. 2022

JCM

View full text Add to dashboard Cite

Pheochromocytoma (PCC) is rare catecholamine-producing endocrine tumor that metastasizes in approximately 10% of cases. As a functional imaging of PCC, 123I-metaiodobenzylguanidine (MIBG) scintigraphy was established, and some cases of PCC exhibit negative accumulation on MIBG scintigraphy, indicating a high risk of metastasis. Additionally, germline genetic variants of PCC are evident in approximately 30% of cases, although the genotype-phenotype correlation in PCC, especially the association between genetic mutations and MIBG scintigraphy, remains unclear. A 33-year-old man was admitted to our hospital for further examination for hypertension. He was diagnosed with sporadic PCC, and left adrenalectomy was performed. The adrenal tumor was negative on MIBG scintigraphy. Histology of the tumor revealed a moderately differentiated PCC. Target gene testing revealed a mutation in RET (c.2071G > A). This mutation has been reported to be a tumor-developing gene involved in the pathogenesis of PCC. Moreover, the RET mutation is the only gene mutation reported in a previous study of PCC with negative results on MIBG scintigraphy, except for the SDHB gene mutation, which is a common mutation in metastatic PCC. Correctively, the present RET gene mutation may be associated to MIBG-scintigraphy negative PCC and its pathophysiology. Clinicians should follow such cases more cautiously in clinical practice.

show abstract

Promoter methylation status of RASSF1A and RASSF2A tumor suppressor genes in endometrial endometrioid carcinomas

Atmaca,

Gun,

Onal

et al. 2024

Nucleosides, Nucleotides & Nucleic Acids

View full text Add to dashboard Cite

Novel RET Proto-oncogene variants identified in Turkish patients with thyroid carcinoma

Cited by 3 publications

References 22 publications

miR604A>G gene polymorphism is associated with recurrent pregnancy loss in Turkish women

miR604A>G gene polymorphism is associated with recurrent pregnancy loss in Turkish women

A Case of 123I-Metaiodobenzylguanidine Scintigraphy-Negative Pheochromocytoma with a Tumor-Developing Mutation in the RET Gene

Promoter methylation status of RASSF1A and RASSF2A tumor suppressor genes in endometrial endometrioid carcinomas

Contact Info

Product

Resources

About