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Advisor(s)
Abstract(s)
Thyroid cancer is the most frequent endocrine neoplasm, being the tenth most prevalent in both genders and it presenting an overall good prognosis [1]. Ras related 2 (R-Ras2), also known as TC21, is a GTP-binding protein that together with R-Ras1 and R-Ras3, is part of the R-Ras GTPase subfamily. Mutations in RRAS2 gene in the long-tailed hotspot Q72L/H block the hydrolysis of guanosine triphosphate (GTP) in Ras superfamily proteins, generating constitutively active proteins that will preferentially bound to GTP [2]. This gene is composed by five exons encoding a member of the Ras superfamily that participates in the RAS-MAPK pathway [3]. The tripeptidyl peptidase 1 promoter (TPP1p) encodes the telomere-binding protein TPP1 that recruits telomerase to the telomeres. This process plays a key role in the telomere stability and length regulation. Mutations in this promoter were reported to create novel transcription factor binding sites as previously presented for telomerase promoter (TERTp) [4]. Co-expression of these two promoters lead to telomere elongation, indicating that mutations in the TPP1 and TERT promoter cooperate for the immortalisation of cancer cells [5]. Our project aimed to evaluate mutations in the Q72L hotspot of the RRAS2 gene and in the TPP1p in thyroid tumours. Upon genotyping of RRas2 and TPP1p, we conclude that the presence of mutations in the Q72L hotspot may not represent an oncogenic event, as we did not detect them. For TPP1p, still under study, although already presented in the literature, at the moment we have not detected them in our series, pointing that they may be a rare event in thyroid tumours.
Description
Keywords
Thyroid cancer Tumours R-Ras2 gene Q72L hotspot Telomerase promoter (TERTp) TPP1 promotor (TPP1p)
Citation
Leite, R., Dias, C., Soares, P., & Vinagre, J. (2023). Evaluation of RRAS2 and TTP1 promoter mutations in thyroid tumours. Livro de Resumos do 16º Encontro de Investigação Jovem da U.Porto / Book of Abstracts Young Researchers Meeting of U.Porto, 838–839.
Publisher
Universidade do Porto