Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.C609F
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RET

NM_020975.6:p.C609F

Associated Papers

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

Approach to the Patient: Hereditary Medullary Thyroid Carcinoma.

Shariq OA et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

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

West CE et al.

Jama Network Open, 2025

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

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

Hamidi S et al.

Annales D'endocrinologie, 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

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

Huai JX et al.

Frontiers in Endocrinology, 2024

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

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

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 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

The correlations of tumor mutational burden among single-region tissue, multi-region tissues and blood in non-small cell lung cancer.

Zhang Y et al.

Journal for Immunotherapy of Cancer, 2019

30944026 (PubMed )
Supplement: 40425_2019_581_MOESM3_ESM.pdf

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

Roskoski R et al.

Pharmacological Research, 2018

Multiple Endocrine Neoplasia Syndromes from Genetic and Epigenetic Perspectives.

Khatami F et al.

Biomarker Insights, 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

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

Analysis of Newly Identified and Rare Synonymous Genetic Variants in the RET Gene in Patients with Medullary Thyroid Carcinoma in Polish Population.

Sromek M et al.

Endocrine Pathology, 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

Diversity of mutations in the RET proto-oncogene and its oncogenic mechanism in medullary thyroid cancer.

Hedayati M et al.

Critical Reviews in Clinical Laboratory Sciences, 2016

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

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

Primary Hyperparathyroidism in MEN2 Syndromes.

Alevizaki M et al.

Recent Results in Cancer Research. Fortschritte Der Krebsforschung. Progres Dans Les Recherches Sur Le Cancer, 2015

The value of genetic screening in medullary thyroid cancer.

Pappa T et al.

Expert Review of Endocrinology & Metabolism, 2014

Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update.

Wells SA et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

Clinical spectrum of MEN2A in a large family caused by the infrequent RET mutation Cys609Phe.

Oriola J et al.

Clinical Genetics, 2013

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

Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.

Frank-Raue K et al.

Human Mutation, 2011

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

Medullary thyroid carcinoma.

Pacini F et al.

Clinical Oncology (royal College of Radiologists (great Britain)), 2010

Medullary thyroid cancer: management guidelines of the American Thyroid Association.

Kloos RT et al.

Thyroid : Official Journal of the American Thyroid Association, 2009

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

RET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis.

Margraf RL et al.

The Journal of Molecular Diagnostics : Jmd, 2007

Medullary carcinoma of the thyroid gland and the MEN 2 syndromes.

Skinner MA et al.

Seminars in Pediatric Surgery, 1997

Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma.

Siegelman M et al.

Clinical Chemistry, 1997

[Characteristic pathological associations in multiple endocrine neoplasia type 1].

Chigot JP et al.

Presse Medicale (paris, France : 1983), 1996

[Multiple endocrine neoplasia type 1. Digestive hormones in the screening].

Carreau A et al.

Presse Medicale (paris, France : 1983), 1993

[Polyneuropathy in type I multiple endocrine syndrome].

Conri C et al.

Presse Medicale (paris, France : 1983), 1990

Pediatric Medullary Thyroid Carcinoma.

Starenki D et al.

Journal of Pediatric Oncology, 0

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