Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.C634S
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RET

NM_020975.6:p.C634S

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

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

DNA polymerase epsilon-mutant colorectal cancers: Insights into non-exonuclease domain mutation variants, microsatellite instability status, and co-mutation profiles.

Taskiran I et al.

World Journal of Gastroenterology, 2025

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

Machens A et al.

Endocrine, 2025

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

Sporadic medullary thyroid carcinoma with a rare RET transmembrane domain mutation (A641R) that responds to selpercatinib.

Fukuda N et al.

The Oncologist, 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

Understanding the variant landscape, and genetic epidemiology of Multiple Endocrine Neoplasia in India.

Vatsyayan A et al.

Endocrine, 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

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

Sahakian N et al.

Cancers, 2023

Looking for RET alterations in thyroid cancer: clinical relevance, methodology and timing.

Elisei R et al.

Endocrine, 2023

Medullary thyroid cancer and pheochromocytoma in MEN2A: are there parent of origin effects on disease expression?

Machens A et al.

Familial Cancer, 2022

Pre- and Post-operative Circulating Tumoral DNA in Patients With Medullary Thyroid Carcinoma.

Ciampi R et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Recurrent ipsilateral pheochromocytoma in carriers of RET p.Cys634 missense mutations.

Machens A et al.

Endocrine, 2022

Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit.

Escudero A et al.

International Journal of Clinical Oncology, 2022

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

Simultaneous bilateral laparoscopic cortical-sparing adrenalectomy for bilateral pheochromocytomas in multiple endocrine neoplasia type 2.

Qi XP et al.

Frontiers in Surgery, 2022

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

Hereditary Medullary Thyroid Carcinoma: Genotype, Phenotype and Outcomes in a North Indian Cohort.

Valiveru RC et al.

World Journal of Surgery, 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

A Narrative Review of Genetic Alterations in Primary Thyroid Epithelial Cancer.

Romei C et al.

International Journal of Molecular Sciences, 2021

Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma.

Yalcintepe S et al.

Journal of Kidney Cancer and Vhl, 2021

The synergy of germline C634Y and V292M RET mutations in a northern Chinese family with multiple endocrine neoplasia type 2A.

Yang Z et al.

Journal of Cellular and Molecular Medicine, 2020

100-Year evolution of precision medicine and surgery for multiple endocrine neoplasia type 2A.

Machens A et al.

Endocrine, 2020

5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine.

Li SY et al.

Frontiers in Endocrinology, 2020

Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.

Ma X et al.

Frontiers in Endocrinology, 2020

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

Cofilin is a mediator of RET-promoted medullary thyroid carcinoma cell migration, invasion and proliferation.

Giardino E et al.

Molecular and Cellular Endocrinology, 2019

Twenty-Five Years Experience on RET Genetic Screening on Hereditary MTC: An Update on The Prevalence of Germline RET Mutations.

Elisei R et al.

Genes, 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

Establishment and characterization of a novel cell line of medullary thyroid carcinoma from a dog.

Okano K et al.

In Vitro Cellular & Developmental Biology. Animal, 2019

SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice.

Casey RT et al.

Scientific Reports, 2019

Present status of prophylactic thyroidectomy in pediatric multiple endocrine neoplasia 2: a nationwide survey in Japan 1997-2017.

Matsushita R et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019

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

Maciel RMB et al.

Endocrine Connections, 2019

Novel Prognostic Factors Associated with Cell Cycle Control in Sporadic Medullary Thyroid Cancer Patients.

Pezzani R et al.

International Journal of Endocrinology, 2019

A synonymous RET substitution enhances the oncogenic effect of an in-cis missense mutation by increasing constitutive splicing efficiency.

Pecce V et al.

Plos Genetics, 2018

Genotype-specific progression of hereditary medullary thyroid cancer.

Machens A et al.

Human Mutation, 2018

RET mutation heterogeneity in primary advanced medullary thyroid cancers and their metastases.

Romei C et al.

Oncotarget, 2018

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

Gudernova I et al.

Oncotarget, 2017

29312610 (PubMed )
Supplement: oncotarget-08-109319-s003.docx

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.

Lebeault M et al.

Thyroid : Official Journal of the American Thyroid Association, 2017

Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes.

Paulo P et al.

The Journal of Molecular Diagnostics : Jmd, 2017

Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families.

Liu Q et al.

Medicine, 2017

A cohort study on 10-year survival of sporadic medullary thyroid carcinoma with somatic RET mutation.

Chuang LL et al.

The Kaohsiung Journal of Medical Sciences, 2016

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