Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.C634Y
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RET

NM_020975.6:p.C634Y

Associated Papers

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

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

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

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

Approach to the Patient: Hereditary Medullary Thyroid Carcinoma.

Shariq OA et al.

The Journal of Clinical Endocrinology and Metabolism, 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

Clinical relevance of the somatic mutational landscaping in predicting outcome of bladder cancer patients.

Nedjadi T et al.

Scientific Reports, 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

RET Y791F in MEN2: a variant presumed non-pathogenic, yet lacking conclusive evidence of insignificance.

Binter T et al.

Gland Surgery, 2025

A Comparative Study on the Multidimensional Features of Hereditary and Sporadic Medullary Thyroid Carcinoma Patients: A Single-Center Retrospective Study.

Deniz MS et al.

Medicina (kaunas, Lithuania), 2025

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

Izatt L

Endocrine-related Cancer, 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

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

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

A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.

Méndez-Vidal C et al.

Journal of Translational Medicine, 2025

39833864 (PubMed )
Supplement: 12967_2025_6069_MOESM3_ESM.xlsx › Validation_cases

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

Management and Long-Term Monitoring of a Young Patient with Pheochromocytoma and RET Mutation: A Case Report.

Zhang Q et al.

International Medical Case Reports Journal, 2025

Presentation of multiple endocrine neoplasia type 2A-associated ectopic cushing's syndrome: case report and a systematic review.

Wang W et al.

Frontiers in Endocrinology, 2025

Genetic landscape of Romanian PPGLs.

Lider-Burciulescu SM et al.

Journal of Cellular and Molecular Medicine, 2024

Molecular diagnostic approaches in detecting rearranged during transfection oncogene mutations in multiple endocrine neoplasia type 2.

Gopinath S et al.

World Journal of Clinical Cases, 2024

First-in-human, phase 1 dose-escalation and dose-expansion study of a RET inhibitor SY-5007 in patients with advanced RET-altered solid tumors.

Li W et al.

Signal Transduction and Targeted Therapy, 2024

39489747 (PubMed )
Supplement: 41392_2024_2006_MOESM1_ESM.docx

Integrating Genetic Alterations and Histopathological Features for Enhanced Risk Stratification in Non-Muscle-Invasive Bladder Cancer.

Lillesand M et al.

Diagnostics (basel, Switzerland), 2024

39410541 (PubMed )
Supplement: diagnostics-14-02137-s001.zip › Table_S2.xlsx › Table_S2

Thyroid Malignancy and Cutaneous Lichen Amyloidosis: Key Points Amid RET Pathogenic Variants in Medullary Thyroid Cancer/Multiple Endocrine Neoplasia Type 2 (MEN2).

Stanescu LS et al.

International Journal of Molecular Sciences, 2024

The neurotransmitter calcitonin gene-related peptide shapes an immunosuppressive microenvironment in medullary thyroid cancer.

Hou Y et al.

Nature Communications, 2024

39030177 (PubMed )
Supplement: 41467_2024_49824_MOESM2_ESM.pdf

RET 634 germline/gonadal mosaicism generating a second pathogenic amino acid change in multiple endocrine neoplasia type 2A.

Valente FOF et al.

American Journal of Medical Genetics. Part A, 2024

Differences between Patients with Sporadic and Familial Pheochromocytoma-Is It Possible to Avoid Genetic Testing in Certain Patients?

Muñoz MC et al.

Biomedicines, 2024

C634Y mutation in RET-induced multiple endocrine neoplasia type 2A: A case report.

Zhang HF et al.

World Journal of Clinical Cases, 2024

Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.

Neocleous V et al.

Orphanet Journal of Rare Diseases, 2024

Unraveling the Promise of RET Inhibitors in Precision Cancer Therapy by Targeting RET Mutations.

Wang ZX et al.

Journal of Medicinal Chemistry, 2024

Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders.

Rezende RC et al.

The Journal of Pediatrics, 2024

Multiple endocrine neoplasia type 2: towards a risk-based approach integrating molecular and biomarker results.

Machens A et al.

Current Opinion in Oncology, 2024

Impact of the overexpression of the tyrosine kinase receptor RET in the hematopoietic potential of induced pluripotent stem cells (iPSCs).

Marcoux P et al.

Cytotherapy, 2024

Genomic profiling of thymoma using a targeted high-throughput approach.

Peric J et al.

Archives of Medical Science : Ams, 2024

Modeling RET-Rearranged Non-Small Cell Lung Cancer (NSCLC): Generation of Lung Progenitor Cells (LPCs) from Patient-Derived Induced Pluripotent Stem Cells (iPSCs).

Marcoux P et al.

Cells, 2023

The preimplantation genetic testing for monogenic disorders strategy for blocking the transmission of hereditary cancers through haplotype linkage analysis by karyomapping.

Chen C et al.

Journal of Assisted Reproduction and Genetics, 2023

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf
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