Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.C618F
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RET

NM_020975.6:p.C618F

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

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026

41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_1.pdf

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

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

Machens A et al.

Endocrine, 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

RET (C620R) Mutation in a Hirschsprung Disease Family: A Case Report Unveiling Asymptomatic Pheochromocytoma and Unmanifested Medullary Thyroid Carcinoma.

Tanaka Y et al.

Cureus, 2025

An Analysis of Primary Hyperparathyroidism in Individuals Diagnosed with Multiple Endocrine Neoplasia Type 2.

Gheorghe AM et al.

Diseases (basel, Switzerland), 2025

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

Hamidi S et al.

Annales D'endocrinologie, 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

Unveiling new chapters in medullary thyroid carcinoma therapy: advances in molecular genetics and targeted treatment strategies.

Huai JX et al.

Frontiers in Endocrinology, 2024

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

Martins RS et al.

Journal of Personalized Medicine, 2023

RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report.

Neocleous V et al.

Life (basel, Switzerland), 2023

Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A in Denmark 1930–2021: A Nationwide Population-Based Retrospective Study

Holm M et al.

Cancers, 2023

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

Milicevic S et al.

Life (basel, Switzerland), 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

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

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

Crude annual incidence rate of medullary thyroid cancer and RET mutation frequency.

Milićević S et al.

Croatian Medical Journal, 2021

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

Chiacchiarini M et al.

Pharmacology & Therapeutics, 2021

Diagnostic Challenges of Medullary Thyroid Carcinoma.

Leimbach RD et al.

Oncology, 2021

CD133 Expression in Medullary Thyroid Cancer Cells Identifies Patients with Poor Prognosis.

Cordero-Barreal A et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Genetic testing in endocrine surgery: Opportunities for precision surgery.

Alobuia W et al.

Surgery, 2020

Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.

Larsen LV et al.

Endocrine Connections, 2020

Long-Term Oncologic Outcomes After Curative Resection of Familial Medullary Thyroid Carcinoma.

Spanheimer PM et al.

Annals of Surgical Oncology, 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

Mice conditionally expressing RET(C618F) mutation display C cell hyperplasia and hyperganglionosis of the enteric nervous system.

Okamoto M et al.

Genesis (new York, N.y. : 2000), 2019

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

Maciel RMB et al.

Endocrine Connections, 2019

Survival and Long-Term Biochemical Cure in Medullary Thyroid Carcinoma in Denmark 1997-2014: A Nationwide Study.

Mathiesen JS et al.

Thyroid : Official Journal of the American Thyroid Association, 2019

Completeness of RET testing in patients with medullary thyroid carcinoma in Denmark 1997-2013: a nationwide study.

Mathiesen JS et al.

Clinical Epidemiology, 2019

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

Incidence and prevalence of sporadic and hereditary MTC in Denmark 1960-2014: a nationwide study.

Mathiesen JS et al.

Endocrine Connections, 2018

Pathogenic Germline Variants in 10,389 Adult Cancers.

Huang KL et al.

Cell, 2018

Role of RET protein-tyrosine kinase inhibitors in the treatment RET-driven thyroid and lung cancers.

Roskoski R et al.

Pharmacological Research, 2018

Incidence and prevalence of multiple endocrine neoplasia 2A in Denmark 1901-2014: a nationwide study.

Mathiesen JS et al.

Clinical Epidemiology, 2018

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

28946813 (PubMed )
Supplement: sj-pdf-1-thy-10.1089_thy.2016.0399.pdf

Founder Effect of the RETC611Y Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study.

Mathiesen JS et al.

Thyroid : Official Journal of the American Thyroid Association, 2017

Medullary Thyroid Carcinoma in MEN2A: ATA Moderate- or High-Risk RET Mutations Do Not Predict Disease Aggressiveness.

Voss RK et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study.

Mathiesen JS et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

Surgical approaches in hereditary endocrine tumors.

Iacobone M et al.

Updates in Surgery, 2017

Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study.

Mathiesen JS et al.

Thyroid : Official Journal of the American Thyroid Association, 2017

Comparative characteristics of primary hyperparathyroidism in pediatric and young adult patients.

Nicholson KJ et al.

Surgery, 2016

The development of rapid and accurate screening test for RET hotspot somatic and germline mutations in MEN2 syndromes.

Zupan A et al.

Experimental and Molecular Pathology, 2015

C-Cell Neoplasia in Asymptomatic Carriers of RET Mutation in Extracellular Cysteine-Rich and Intracellular Tyrosine Kinase Domain.

Abi-Raad R et al.

Human Pathology, 2015

Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.

Wells SA et al.

Thyroid : Official Journal of the American Thyroid Association, 2015

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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."