Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.C620G
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RET

NM_020975.6:p.C620G

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

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

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

West CE et al.

Jama Network Open, 2025

Progress and challenges in RET-targeted cancer therapy.

Hu X et al.

Frontiers of Medicine, 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

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

Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.

Savatt JM et al.

Bmc Medicine, 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

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

Salvatore D et al.

Nature Reviews. Endocrinology, 2021

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

Chiacchiarini M et al.

Pharmacology & Therapeutics, 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

Long-term outcome after DNA-based prophylactic neck surgery in children at risk of hereditary medullary thyroid cancer.

Machens A et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2019

Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study.

Maciel RMB et al.

Endocrine Connections, 2019

Early, Prophylactic Thyroidectomy in Hereditary Medullary Thyroid Carcinoma: A 26-year Monoinstitutional Experience.

Pelizzo MR et al.

American Journal of Clinical Oncology, 2015

Skewed mutational spectrum of RET proto-oncogene Exon10 in Iranian patients with medullary thyroid carcinoma.

Yeganeh MZ et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2015

In silico analysis of RET variants in medullary thyroid cancer: from the computer to the bedside.

Heineman TE et al.

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 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_3.xlsx › Sheet1

The value of genetic screening in medullary thyroid cancer.

Pappa T et al.

Expert Review of Endocrinology & Metabolism, 2014

MicroRNA profiles in familial and sporadic medullary thyroid carcinoma: preliminary relationships with RET status and outcome.

Mian C et al.

Thyroid : Official Journal of the American Thyroid Association, 2012

Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.

Crockett DK et al.

Genome Medicine, 2012

22640420 (PubMed )
Supplement: gm347-S2.DOC

RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.

Quedas EP et al.

Clinics (sao Paulo, Brazil), 2012

Management of medullary thyroid carcinoma and MEN2 syndromes in childhood.

Waguespack SG et al.

Nature Reviews. Endocrinology, 2011

Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes.

Romei C et al.

European Journal of Endocrinology, 2010

Beyond RET: potential therapeutic approaches for advanced and metastatic medullary thyroid carcinoma.

Santarpia L et al.

Journal of Internal Medicine, 2009

Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations.

Margraf RL et al.

Human Mutation, 2009

The occurrence and the type of germline mutations in the RET gene in patients with medullary thyroid carcinoma and their unaffected kindred's from Central Poland.

Paszko Z et al.

Cancer Investigation, 2007

RET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis.

Margraf RL et al.

The Journal of Molecular Diagnostics : Jmd, 2007

[Molecular biology, basic research and diagnosis of Hirschsprung's disease].

Martucciello G et al.

Der Pathologe, 2007

RET receptor signaling: dysfunction in thyroid cancer and Hirschsprung's disease.

Asai N et al.

Pathology International, 2006

Drug insight: Small-molecule inhibitors of protein kinases in the treatment of thyroid cancer.

Santoro M et al.

Nature Clinical Practice. Endocrinology & Metabolism, 2006

Multiple endocrine neoplasia type 2.

Peczkowska M et al.

Familial Cancer, 2005

A new therapeutic approach in medullary thyroid cancer treatment: inhibition of oncogenic RET signaling by adenoviral vector-mediated expression of a dominant-negative RET mutant.

Drosten M et al.

Surgery, 2002

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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."