Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.C618G
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RET

NM_020975.6:p.C618G

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

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

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

West CE et al.

Jama Network Open, 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

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

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

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

Ohmoto A et al.

Hereditary Cancer in Clinical Practice, 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

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

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

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

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

Genetic Landscape of Somatic Mutations in a Large Cohort of Sporadic Medullary Thyroid Carcinomas Studied by Next-Generation Targeted Sequencing.

Ciampi R et al.

Iscience, 2019

RET S409Y Germline Mutation and Associated Medullary Thyroid Carcinoma.

Qi XP et al.

Thyroid : Official Journal of the American Thyroid Association, 2019

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

Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.

Richter S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30050099 (PubMed )
Supplement: NIHMS1505462-supplement-Supplementary_information_3.xlsx › SDHx_variants

Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect.

Fanis P et al.

Journal of Endocrinological Investigation, 2018

Genotype-specific progression of hereditary medullary thyroid cancer.

Machens A et al.

Human Mutation, 2018

Modifying impact of RET gene haplotypes on medullary thyroid carcinoma clinical course.

Kaczmarek-Ryś M et al.

Endocrine-related Cancer, 2018

A pioneering RET genetic screening study in the State of Ceará, Brazil, evaluating patients with medullary thyroid cancer and at-risk relatives: experience with 247 individuals.

Martins-Costa MC et al.

Archives of Endocrinology and Metabolism, 2018

Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.

Gudernova I et al.

Oncotarget, 2017

Aggressive medullary thyroid cancer, an analysis of the Irish National Cancer Registry.

Lennon P et al.

Irish Journal of Medical Science, 2017

Comprehensive Genomic Profiling of Clinically Advanced Medullary Thyroid Carcinoma.

Heilmann AM et al.

Oncology, 2016

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

Management of medullary thyroid carcinoma and MEN2 syndromes in childhood.

Waguespack SG et al.

Nature Reviews. Endocrinology, 2011

Variant identification in multi-sample pools by illumina genome analyzer sequencing.

Margraf RL et al.

Journal of Biomolecular Techniques : Jbt, 2011

Multi-sample pooling and illumina genome analyzer sequencing methods to determine gene sequence variation for database development.

Margraf RL et al.

Journal of Biomolecular Techniques : Jbt, 2010

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

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Multiple endocrine neoplasia type 2.

Lips CJ et al.

Expert Review of Endocrinology & Metabolism, 2009

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

Santarpia L et al.

Journal of Internal Medicine, 2009

Familial prevalence and age of RET germline mutations: implications for screening.

Machens A et al.

Clinical Endocrinology, 2008

Pheochromocytoma penetrance varies by RET mutation in MEN 2A.

Machens A et al.

Surgery, 2008

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

Pheochromocytoma penetrance varies by RET mutation in MEN 2A.

Quayle FJ et al.

Surgery, 2007

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