Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.C634R
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RET

NM_020975.6:p.C634R

Associated Papers

RET germline mutations drive tumorigenesis but not tumor aggressiveness in MEN 2.

Machens A et al.

Endocrine, 2026

Multigene panel testing reveals the spectrum of non-BRCA germline variants in BRCA1/2-negative breast, ovarian, and prostate cancer patients from a Turkish cohort.

Paksoy B et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2026

A novel multimodal diagnostic framework integrating hyperspectral imaging and deep learning for predicting RET gene mutations in medullary thyroid carcinoma.

Yang Z et al.

Computer Methods and Programs in Biomedicine, 2026

Liquid Biopsy-Based RET Mutation Profiling to Guide RET Inhibitor Treatment in Sporadic Medullary Thyroid Carcinoma May Be Useful in Cases with High Tumor Burden and Progressive Disease.

Ciampi R et al.

Thyroid : Official Journal of the American Thyroid Association, 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

The shifting landscape of germline RET pathogenic variants with the introduction of panel testing.

Onuma AE et al.

Surgery, 2026

Landscape of Phenotype-Genotype Correlations in Romanian Patients with Medullary Thyroid Carcinoma.

Stanescu LS et al.

Cancers, 2025

RET Gene Alterations in Clinical Practice: A Comprehensive Review and Database Update.

Ricciardi Tenore C et al.

Genes, 2025

41465145 (PubMed )
Supplement: genes-16-01472-s001.zip › genes-3934011-supplementary.pdf

Secondary Findings in a Research Cohort: Spectrum and the Indian Perspective.

Motwani P et al.

American Journal of Medical Genetics. Part A, 2025

Real-world efficacy and safety of selpercatinib in RET-mutant medullary thyroid cancer at a Tertiary Referral Center.

Machlah YM et al.

European Journal of Endocrinology, 2025

Discovery of a Proteolysis Targeting Chimera for TRKA and RET-derived oncoproteins.

Moccia M et al.

Scientific Reports, 2025

Molecular dynamics investigation of cysteine mutations: Effects on calcium ion affinity and structural stability in the RET cysteine-rich domain.

R B et al.

Journal of Molecular Graphics & Modelling, 2025

Geospatial inheritance across the breath of the RET mutational landscape of multiple endocrine neoplasia 2A.

Machens A et al.

Endocrine, 2025

Do Prognostic Differences Exist Among High-Risk RET Mutations? A Comparison of Outcomes Between the RET C634R and Other C634 Mutations in Hereditary Medullary Thyroid Carcinoma.

Zhang J et al.

Thyroid : Official Journal of the American Thyroid Association, 2025

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Proposed framework for triage of putative germline variants detected via tumour genomic testing in UK oncology practice.

McVeigh TP et al.

Journal of Medical Genetics, 2025

Prevalence and genetics of "de novo" MEN2 syndromes.

Casalini R et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Patient-derived medullary thyroid cancer organoids: a potential model for mechanistic studies on diagnostics and therapy.

Jager EC et al.

European Thyroid Journal, 2025

Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.

Charoenngam N et al.

European Journal of Endocrinology, 2025

Multiple endocrine neoplasia type 1 (MEN1): recommendations and guidelines for best practice.

Brandi ML et al.

The Lancet. Diabetes & Endocrinology, 2025

Design and Discovery of Novel Selective RET Inhibitors with High Central Nervous System Penetration, Enhanced Pharmacokinetics, and Pharmacodynamics.

Wang X et al.

Journal of Medicinal Chemistry, 2025

Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.

Sanabria-Salas MC et al.

European Journal of Human Genetics : Ejhg, 2025

Incidence and distribution of neck node metastases in hereditary vs. sporadic medullary thyroid cancer at basal calcitonin serum levels ≤100 pg/ml: 30-year experience.

Machens A et al.

European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology, 2025

Detection of SEZ6, a Therapeutic Target, in Medullary Thyroid Carcinoma.

Xu B et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Medullary Thyroid Cancer Risk and Mortality in Carriers of Incidentally Identified MEN2A RET Variants.

West CE et al.

Jama Network Open, 2025

RET (C620R) Mutation in a Hirschsprung Disease Family: A Case Report Unveiling Asymptomatic Pheochromocytoma and Unmanifested Medullary Thyroid Carcinoma.

Tanaka Y et al.

Cureus, 2025

A Rare Collision in Thyroid and Lymph Node: A Case Report and Review of Literature.

V GK et al.

Cureus, 2025

Kinome profiling reveals pathogenic variant specific protein signalling networks in MEN2 children with Medullary Thyroid Cancer.

Rix B et al.

Npj Precision Oncology, 2025

40316714 (PubMed )
Supplement: 41698_2025_919_MOESM2_ESM.xlsx › Sheet1

Genomic testing for RET in the clinic: UK and global perspective.

Izatt L

Endocrine-related Cancer, 2025

Frequency of targetable genetic alterations in resectable lung adenocarcinoma: Results from the LORD project.

Bossé Y et al.

Lung Cancer (amsterdam, Netherlands), 2025

Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.

Bates BA et al.

Hgg Advances, 2025

39799398 (PubMed )
Supplement: mmc2.xlsx › variantCounts

Clinico-radiological findings of men 2A syndrome and its genetic correlation: A case report with review of literature.

Singhal N et al.

Radiology Case Reports, 2025

Prioritization of predisposition genes for familial non-medullary thyroid cancer by whole-genome sequencing.

Srivastava A et al.

European Journal of Endocrinology, 2025

An Analysis of Primary Hyperparathyroidism in Individuals Diagnosed with Multiple Endocrine Neoplasia Type 2.

Gheorghe AM et al.

Diseases (basel, Switzerland), 2025

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf

Congenital primary hyperparathyroidism.

Marini F et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2025

Characteristics of RET gene mutations in Vietnamese medullary thyroid carcinoma patients: a single-center analysis.

Pham VH et al.

Journal of Pathology and Translational Medicine, 2025

Clinical Activity of Selpercatinib in RET-mutant Pheochromocytoma.

Deschler-Baier B et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Post-surgical natural history of MEN2A with RET C634R mutation and bilateral cervical node metastasis: a case report.

Adhikari B et al.

Annals of Medicine and Surgery (2012), 2025

Clinical integration of germline findings from a tumor testing precision medicine program.

Sanabria-Salas MC et al.

Bmc Cancer, 2025

39885482 (PubMed )
Supplement: 12885_2025_13487_MOESM1_ESM.pdf

Efficacy and Safety of Selective RET Inhibitors in Patients with Advanced Hereditary Medullary Thyroid Carcinoma.

Hamidi S et al.

Thyroid : Official Journal of the American Thyroid Association, 2025

Remission of Insulin-Dependent Diabetes Mellitus in Multiple Endocrine Neoplasia Type 2A After Adrenalectomy.

Sato M et al.

Jcem Case Reports, 2025

A Comprehensive Target Panel Allows to Extend the Genetic Spectrum of Neuroendocrine Tumors.

Tsoy UA et al.

Neuroendocrinology, 2025

Thyroid C-Cell Biology and Oncogenic Transformation.

Bagheri-Yarmand R et al.

Recent Results in Cancer Research. Fortschritte Der Krebsforschung. Progres Dans Les Recherches Sur Le Cancer, 2025

Epidemiology, Clinical Presentation, and Diagnosis of Medullary Thyroid Carcinoma.

Raue F et al.

Recent Results in Cancer Research. Fortschritte Der Krebsforschung. Progres Dans Les Recherches Sur Le Cancer, 2025

Hereditary Medullary Thyroid Cancer: Genotype-Phenotype Correlation.

Frank-Raue K et al.

Recent Results in Cancer Research. Fortschritte Der Krebsforschung. Progres Dans Les Recherches Sur Le Cancer, 2025

Primary Hyperparathyroidism in MEN2 Syndromes.

Saltiki K et al.

Recent Results in Cancer Research. Fortschritte Der Krebsforschung. Progres Dans Les Recherches Sur Le Cancer, 2025

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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."