Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.C634F
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RET

NM_020975.6:p.C634F

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

Rare cases in two Chinese MEN2A families with RET C634Y germline mutation-a homozygous female patient and heterozygous identical twins: a systematic review of literature.

Qi XP et al.

Frontiers in Endocrinology, 2026

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

Do Prognostic Differences Exist Among High-Risk RET Mutations? A Comparison of Outcomes Between the RET C634R and Other C634 Mutations in Hereditary Medullary Thyroid Carcinoma.

Zhang J et al.

Thyroid : Official Journal of the American Thyroid Association, 2025

Approach to the Patient: Hereditary Medullary Thyroid Carcinoma.

Shariq OA et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.

Jha P et al.

The Journal of Liquid Biopsy, 2025

40503459 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

Clinical Activity of Selpercatinib in RET-mutant Pheochromocytoma.

Deschler-Baier B et al.

The Journal of Clinical Endocrinology and Metabolism, 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

Molecular profiling of sporadic medullary thyroid carcinomas - a next-generation sequencing-based study.

Altinay S et al.

Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists, 2025

Endocrine Perspective of Cutaneous Lichen Amyloidosis: RET-C634 Pathogenic Variant in Multiple Endocrine Neoplasia Type 2.

Florescu AF et al.

Clinics and Practice, 2024

Fundamentals and recent advances in the evaluation and management of medullary thyroid carcinoma.

Gigliotti BJ et al.

Molecular and Cellular Endocrinology, 2024

Robot-Assisted Surgery and Multigene Panel Testing for Pheochromocytoma and Paraganglioma Syndrome.

Takagi K et al.

Cureus, 2024

Molecular genetics, therapeutics and RET inhibitor resistance for medullary thyroid carcinoma and future perspectives.

Zhang Y et al.

Cell Communication and Signaling : Ccs, 2024

Thyroid Malignancy and Cutaneous Lichen Amyloidosis: Key Points Amid RET Pathogenic Variants in Medullary Thyroid Cancer/Multiple Endocrine Neoplasia Type 2 (MEN2).

Stanescu LS et al.

International Journal of Molecular Sciences, 2024

RET kinase inhibitors for the treatment of RET-altered thyroid cancers: Current knowledge and future directions.

Hamidi S et al.

Annales D'endocrinologie, 2024

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

Ohmoto A et al.

Hereditary Cancer in Clinical Practice, 2024

Accelerated MEN2A in homozygous RET carriers in the context of consanguinity.

Machens A et al.

European Journal of Endocrinology, 2024

[Precision medicine in endocrinology exemplified by medullary thyroid cancer].

Brandenburg T et al.

Innere Medizin (heidelberg, Germany), 2024

Does Genotype-Specific Phenotype in Patients with Multiple Endocrine Neoplasia Type 2 Occur as Current Guidelines Predict?

Binter T et al.

Cancers, 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

Next-Generation-Sequencing on fine needle aspirates in neck recurrence of thyroid cancers.

Theodon H et al.

European Thyroid Journal, 2024

38236745 (PubMed )
Supplement: supplementary_data.pdf

Identifying Lymph Node Metastasis-Related Factors in Breast Cancer Using Differential Modular and Mutational Structural Analysis.

Liu X et al.

Interdisciplinary Sciences, Computational Life Sciences, 2023

A systematic review of the prevalence of pathogenic or likely pathogenic germline variants in individuals with FOXO1 fusion-positive rhabdomyosarcoma.

Freycon C et al.

Pediatric Blood & Cancer, 2023

Clinic Heterogeneity and Management of Pediatric Patients With Germline RET Proto-oncogene Mutation: Single-center Experience.

Şıklar Z et al.

Journal of Pediatric Hematology/oncology, 2023

Medullary Thyroid Cancer: Updates and Challenges.

Gild ML et al.

Endocrine Reviews, 2023

Personalized Medicine in Medullary Thyroid Carcinoma: A Broad Review of Emerging Treatments.

Martins RS et al.

Journal of Personalized Medicine, 2023

Update on C-Cell Neuroendocrine Neoplasm: Prognostic and Predictive Histopathologic and Molecular Features of Medullary Thyroid Carcinoma.

Jung CK et al.

Endocrine Pathology, 2023

Integrated proteogenomic characterization of medullary thyroid carcinoma.

Shi X et al.

Cell Discovery, 2022

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

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

Machens A et al.

Familial Cancer, 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

Medullary Thyroid Carcinoma and Associated Endocrinopathies in Slovenia from 1995 to 2021.

Milicevic S et al.

Life (basel, Switzerland), 2022

Somatic RET Indels in Sporadic Medullary Thyroid Cancer: Prevalence and Response to Selpercatinib.

Elisei 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

Increased expression of Nrf2 and elevated glucose uptake in pheochromocytoma and paraganglioma with SDHB gene mutation.

Kamai T et al.

Bmc Cancer, 2022

SDHB knockout and succinate accumulation are insufficient for tumorigenesis but dual SDHB/NF1 loss yields SDHx-like pheochromocytomas.

Armstrong N et al.

Cell Reports, 2022

35235785 (PubMed )
Supplement: NIHMS1785223-supplement-1.pdf

Clinical features and signaling effects of RET D631Y variant multiple endocrine neoplasia type 2 (MEN2).

Lee JY et al.

The Korean Journal of Internal Medicine, 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

RET gene mutational diagnosis and precision medicine in Mexico.

Martínez-Castillo MA et al.

Gaceta Medica De Mexico, 2022

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

Active Surveillance in RET Gene Carriers Belonging to Families with Multiple Endocrine Neoplasia.

Prete A et al.

Cancers, 2021

Hereditary medullary thyroid carcinoma syndromes: experience from western India.

Diwaker C et al.

Familial Cancer, 2021

Functional impact of a germline RET mutation in alveolar rhabdomyosarcoma.

Berlow NE et al.

Cold Spring Harbor Molecular Case Studies, 2021

Current Guidelines for Management of Medullary Thyroid Carcinoma.

Kim M et al.

Endocrinology and Metabolism (seoul, Korea), 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

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