Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.C618R
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RET

NM_020975.6:p.C618R

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

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

Diagnosing the silent: the molecular landscape of non-functional parathyroid carcinoma.

Jentus MM et al.

Virchows Archiv : an International Journal of Pathology, 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

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

Machens A et al.

Endocrine, 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

Prevalence and genetics of "de novo" MEN2 syndromes.

Casalini R et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Overlapping Presentations and Diverse Genetic Defects Characterize Neuroendocrine Neoplasms in a Mexican Cohort.

Hernández-Ramírez LC et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

A Case of Stevens-Johnson Syndrome Induced by Selpercatinib.

Tone Y et al.

The Journal of Dermatology, 2025

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

Izatt L

Endocrine-related Cancer, 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

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

Minor role of TP53 and TERT promoter mutations in medullary thyroid carcinoma: report of new cases and revision of the literature.

Casalini R et al.

Endocrine, 2025

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

Surgical Treatment of Medullary Thyroid Cancer.

Machens A et al.

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

Phenotype and genotype in hereditary chronic intestinal pseudo-obstruction with small intestine involvement.

Chen Y et al.

Frontiers in Medicine, 2025

Genotype-phenotype correlations of germline mutations in exon 10 of the RET proto-oncogene from 14 MEN2A families of Ethnic Han Chinese.

Li F et al.

Plos One, 2025

40934230 (PubMed )
Supplement: pone.0332136.s003.docx

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

The Potential Utility of RAS Q61R Immunohistochemistry as a Screening Tool in Pre-operative Fine Needle Aspirates of Medullary Thyroid Carcinoma.

Deyette B et al.

Endocrine Pathology, 2024

Genetic landscape of Romanian PPGLs.

Lider-Burciulescu SM et al.

Journal of Cellular and Molecular Medicine, 2024

Genomic and Transcriptomic Landscape of RET Wild-Type Medullary Thyroid Cancer and Potential Use of Mitogen-Activated Protein Kinase-Targeted Therapy.

Darabi S et al.

Journal of the American College of Surgeons, 2024

RET Alterations Differentiate Molecular Profile of Medullary Thyroid Cancer.

Prabhash K et al.

Jco Precision Oncology, 2024

[Precision medicine in endocrinology exemplified by medullary thyroid cancer].

Brandenburg T et al.

Innere Medizin (heidelberg, Germany), 2024

Characterization of the Thyroid Cancer Genomic Landscape by Plasma-Based Circulating Tumor DNA Next-Generation Sequencing.

Tarasova VD et al.

Thyroid : Official Journal of the American Thyroid Association, 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

Applications of genomic research in pediatric endocrine diseases.

Kim JH et al.

Clinical and Experimental Pediatrics, 2023

Re: "A Case Report of Poor Response to Selpercatinib in the Presence of a 632_633 RET Deletion" by Wijewardene et al.

Szymczak S et al.

Thyroid : Official Journal of the American Thyroid Association, 2023

Molecular Basis and Natural History of Medullary Thyroid Cancer: It is (Almost) All in the RET.

Sahakian N et al.

Cancers, 2023

Medullary Thyroid Cancer: Updates and Challenges.

Gild ML et al.

Endocrine Reviews, 2023

RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report.

Neocleous V et al.

Life (basel, Switzerland), 2023

Clinical characteristics of a large familial cohort with Medullary thyroid cancer and germline Cys618Arg RET mutation in an Israeli multicenter study.

Rosenblum RC et al.

Frontiers in Endocrinology, 2023

Integrated proteogenomic characterization of medullary thyroid carcinoma.

Shi X et al.

Cell Discovery, 2022

36344509 (PubMed )
Supplement: 41421_2022_479_MOESM4_ESM.xlsx › Germline_RET_mutations

Molecular Divergence upon EGFR-TKI Resistance Could Be Dependent on the Exon Location of the Original EGFR-Sensitizing Mutation.

Serna-Blasco R et al.

Cancers, 2022

36139605 (PubMed )
Supplement: cancers-14-04446-s001.zip › Supplemental_data_S4.xlsx › variants_datasheet

Treatment of RET-Positive Advanced Medullary Thyroid Cancer with Multi-Tyrosine Kinase Inhibitors-A Retrospective Multi-Center Registry Analysis.

Koehler VF et al.

Cancers, 2022

Sex differences in MEN 2A penetrance and expression according to parental inheritance.

Machens A et al.

European Journal of Endocrinology, 2022

The RET gene encodes RET protein, which triggers intracellular signaling pathways for enteric neurogenesis, and RET mutation results in Hirschsprung's disease.

Bhattarai C et al.

Aims Neuroscience, 2022

Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.

Panda G et al.

Frontiers in Pharmacology, 2022

35865963 (PubMed )
Supplement: Table12.xlsx › Sheet1

GLOBAL ENDOCRINOLOGY: Geographical variation in the profile of RET variants in patients with medullary thyroid cancer: a comprehensive review.

Maciel RMB et al.

European Journal of Endocrinology, 2021

Metastatic cluster 2-related pheochromocytoma/paraganglioma: a single-center experience and systematic review.

Kumar S et al.

Endocrine Connections, 2021

Parathyroid Tumors: Molecular Signatures.

Marini F et al.

International Journal of Molecular Sciences, 2021

Elevated basal serum levels of calcitonin and simultaneous surgery of MEN2A-specific tumors.

Tang HX et al.

Neoplasma, 2021

Kidney malformations and Hirschsprung's disease in carriers of cysteine mutations in exon 10 of the RET proto-oncogene.

Machens A et al.

Endocrine, 2021

The importance of the RET gene in thyroid cancer and therapeutic implications.

Salvatore D et al.

Nature Reviews. Endocrinology, 2021

Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China.

Qi XP et al.

Bmc Cancer, 2021

Role of tissue and circulating microRNAs and DNA as biomarkers in medullary thyroid cancer.

Chiacchiarini M et al.

Pharmacology & Therapeutics, 2021

RET Proto-Oncogene Mutational Analysis in 45 Iranian Patients Affected with Medullary Thyroid Carcinoma: Report of a New Variant.

Damavandi E et al.

Journal of Thyroid Research, 2021

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