Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.T295S
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RET

NM_020975.6:p.T295S

Associated Papers

Calcitonin Thresholds for Prediction of Medullary Thyroid Carcinoma and its Clinical Response in MEN2A Gene Carriers.

Prete A et al.

The Journal of Clinical Endocrinology and Metabolism, 2026

Multi-center multi-omics integration predicts individualized prognosis in medullary thyroid carcinoma.

Zhou Y et al.

Nature Communications, 2026

41535264 (PubMed )
Supplement: 41467_2025_67533_MOESM3_ESM.xlsx › Sheet1

Medullary thyroid carcinoma exclusively associated with a homozygous RET V778I pathogenic variant: a case report with review of literature.

Kihara M et al.

Endocrine Journal, 2026

Rare cases in two Chinese MEN2A families with RET C634Y germline mutation-a homozygous female patient and heterozygous identical twins: a systematic review of literature.

Qi XP et al.

Frontiers in Endocrinology, 2026

Decoding genomic rearrangements for cancer driver discovery.

Seo E et al.

Molecules and Cells, 2025

Looking for RET alterations in thyroid cancer: clinical relevance, methodology and timing.

Elisei R et al.

Endocrine, 2023

Novel Calcium-Binding Ablating Mutations Induce Constitutive RET Activity and Drive Tumorigenesis.

Tabata J et al.

Cancer Research, 2022

36166639 (PubMed )
Supplement: can-22-0834_supplementary_table_s2_suppst2.xlsx › Supplementary_Table_S2

Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.

Takayanagi D et al.

Cancers, 2021

A Narrative Review of Genetic Alterations in Primary Thyroid Epithelial Cancer.

Romei C et al.

International Journal of Molecular Sciences, 2021

Twenty-Five Years Experience on RET Genetic Screening on Hereditary MTC: An Update on The Prevalence of Germline RET Mutations.

Elisei R et al.

Genes, 2019

RET mutation heterogeneity in primary advanced medullary thyroid cancers and their metastases.

Romei C et al.

Oncotarget, 2018

A pioneering RET genetic screening study in the State of Ceará, Brazil, evaluating patients with medullary thyroid cancer and at-risk relatives: experience with 247 individuals.

Martins-Costa MC et al.

Archives of Endocrinology and Metabolism, 2018

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.

Lebeault M et al.

Thyroid : Official Journal of the American Thyroid Association, 2017

Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study.

Mathiesen JS et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

The RET E616Q Variant is a Gain of Function Mutation Present in a Family with Features of Multiple Endocrine Neoplasia 2A.

Grey W et al.

Endocrine Pathology, 2017

Management of hereditary medullary thyroid carcinoma.

Pappa T et al.

Endocrine, 2016

The diagnostic application of RNA sequencing in patients with thyroid cancer: an analysis of 851 variants and 133 fusions in 524 genes.

Pagan M et al.

Bmc Bioinformatics, 2016

26818556 (PubMed )
Supplement: 12859_2015_849_MOESM3_ESM.pdf

Elevated level of serum carbohydrate antigen 19.9 as predictor of mortality in patients with advanced medullary thyroid cancer.

Elisei R et al.

European Journal of Endocrinology, 2015

Twenty years of lesson learning: how does the RET genetic screening test impact the clinical management of medullary thyroid cancer?

Romei C et al.

Clinical Endocrinology, 2015

Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Toledo RA et al.

Endocrine-related Cancer, 2015

25425582 (PubMed )
Supplement: supp_ERC-14-0491_Supplementary_table_2.xlsx › Sheet1

Novel RET mutations in macedonian patients with medullary thyroid carcinoma: genotype-phenotype correlations.

Jovanovic R et al.

Prilozi (makedonska Akademija Na Naukite I Umetnostite. Oddelenie Za Medicinski Nauki), 2015

The value of genetic screening in medullary thyroid cancer.

Pappa T et al.

Expert Review of Endocrinology & Metabolism, 2014

Novel tandem germline RET proto-oncogene mutations in a patient with multiple endocrine neoplasia type 2B: report of a case and a literature review of tandem RET mutations with in silico analysis.

Nakao KT et al.

Head & Neck, 2013

Molecular epidemiology of multiple endocrine neoplasia 2: implications for RET screening in the new millenium.

Machens A et al.

European Journal of Endocrinology, 2013

Chromosome 10 and RET gene copy number alterations in hereditary and sporadic Medullary Thyroid Carcinoma.

Ciampi R et al.

Molecular and Cellular Endocrinology, 2012

In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer.

Cosci B et al.

Endocrine-related Cancer, 2011

Medullary thyroid cancer: RET testing of an archival material.

Godballe C et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2010

RET signaling in endocrine tumors: delving deeper into molecular mechanisms.

Lai AZ et al.

Endocrine Pathology, 2007

A rare RET gene exon 8 mutation is found in two Greek kindreds with familial medullary thyroid carcinoma: implications for screening.

Kaldrymides P et al.

Clinical Endocrinology, 2006

Multiple endocrine neoplasia type 2 and the RET protooncogene: from bedside to bench to bedside.

Machens A et al.

Molecular and Cellular Endocrinology, 2006

Germline homozygous mutations at codon 804 in the RET protooncogene in medullary thyroid carcinoma/multiple endocrine neoplasia type 2A patients.

Lesueur F et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

RET proto-oncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors.

Kouvaraki MA et al.

Thyroid : Official Journal of the American Thyroid Association, 2005

Identification of a novel point mutation in the RET gene (Ala883Thr), which is associated with medullary thyroid carcinoma phenotype only in homozygous condition.

Elisei R et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."