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

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

RET S409Y Germline Mutation and Associated Medullary Thyroid Carcinoma.

Qi XP et al.

Thyroid : Official Journal of the American Thyroid Association, 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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