Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.C620R
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RET

NM_020975.6:p.C620R

Associated Papers

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

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

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

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

40974092 (PubMed )
Supplement: lvaf191_supplementary_data.docx

Approach to the Patient: Hereditary Medullary Thyroid Carcinoma.

Shariq OA et al.

The Journal of Clinical Endocrinology and Metabolism, 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

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

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

Srivastava A et al.

European Journal of Endocrinology, 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

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

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

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

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

Current prospects of hereditary adrenal tumors: towards better clinical management.

Ohmoto A et al.

Hereditary Cancer in Clinical Practice, 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

High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease.

Ding HY et al.

Pediatric Surgery International, 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

Pediatric head and neck manifestations associated with multiple endocrine neoplasia syndromes.

Jellins T et al.

International Journal of Pediatric Otorhinolaryngology, 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

Somatic IDH1 Hotspot Variants in Chinese Patients With Pheochromocytomas and Paragangliomas.

Li M et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A in Denmark 1930–2021: A Nationwide Population-Based Retrospective Study

Holm M et al.

Cancers, 2023

A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism.

Sunardi M et al.

Cellular and Molecular Gastroenterology and Hepatology, 2023

Integrated proteogenomic characterization of medullary thyroid carcinoma.

Shi X et al.

Cell Discovery, 2022

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

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

Tabata J et al.

Cancer Research, 2022

Unexpected structures formed by the kinase RET C634R mutant extracellular domain suggest potential oncogenic mechanisms in MEN2A.

Liu Y et al.

The Journal of Biological Chemistry, 2022

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

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

Machens A et al.

European Journal of Endocrinology, 2022

Systematic population-based identification of NTRK and RET fusion-positive thyroid cancers.

Eszlinger M et al.

European Thyroid Journal, 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

Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.

Villiger L et al.

Molecular Therapy. Nucleic Acids, 2021

34631280 (PubMed )
Supplement: mmc3.xlsx › Tabelle1

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

Germline RET variants underlie a subset of paediatric osteosarcoma.

Kovac M et al.

Journal of Medical Genetics, 2021

Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Unknown Author

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32546831 (PubMed )
Supplement: NIHMS1615423-supplement-Supplementary_Table_2.xlsx › Sheet1

Roles of the RET Proto-oncogene in Cancer and Development.

Takahashi M et al.

Jma Journal, 2020

Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.

Larsen LV et al.

Endocrine Connections, 2020

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