Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.S904C
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RET

NM_020975.6:p.S904C

Associated Papers

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

Hereditary Medullary Thyroid Cancer: Genotype-Phenotype Correlation.

Frank-Raue K et al.

Recent Results in Cancer Research. Fortschritte Der Krebsforschung. Progres Dans Les Recherches Sur Le Cancer, 2025

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

Activating Point Mutations in the MET Kinase Domain Represent a Unique Molecular Subset of Lung Cancer and Other Malignancies Targetable with MET Inhibitors.

Pecci F et al.

Cancer Discovery, 2024

38564707 (PubMed )
Supplement: cd-23-1217_supplementary_table_18_suppst18.xlsx › Sheet1

[Intestinal ganglioneuromatosis as an early extra-endocrine manifestation of type 2B multiple endocrine neoplasia].

Averianova JV et al.

Problemy Endokrinologii, 2023

Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database.

Margraf RL et al.

Human Mutation, 2022

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

Li SY et al.

Frontiers in Endocrinology, 2020

RET kinase alterations in targeted cancer therapy.

Liu X et al.

Cancer Drug Resistance (alhambra, Calif.), 2020

p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer.

Loveday C et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

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 Nationwide Study of Multiple Endocrine Neoplasia Type 2A in Norway: Predictive and Prognostic Factors for the Clinical Course of Medullary Thyroid Carcinoma.

Opsahl EM et al.

Thyroid : Official Journal of the American Thyroid Association, 2016

The role of genetic screening in medullary thyroid cancer: a clinician's view on the recent ATA guidelines.

Pappa T

Expert Review of Endocrinology & Metabolism, 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

Histopathology of C Cells and Medullary Thyroid Carcinoma.

Schmid KW

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

Hereditary Medullary Thyroid Cancer Genotype-Phenotype Correlation.

Frank-Raue K et al.

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

Tandem Germline RET Mutations in a Family Pathogenetic for Multiple Endocrine Neoplasia 2B, Confirmed by a Natural Experiment.

Kihara M et al.

European Thyroid Journal, 2014

Surgical curability of medullary thyroid cancer in multiple endocrine neoplasia 2B: a changing perspective.

Brauckhoff M et al.

Annals of Surgery, 2014

[Hereditary thyroid carcinoma and its molecular diagnostics].

Dvořáková S et al.

Ceskoslovenska Patologie, 2014

In silico profiling and structural insights of missense mutations in RET protein kinase domain by molecular dynamics and docking approach.

George Priya Doss C et al.

Molecular Biosystems, 2014

RET revisited: expanding the oncogenic portfolio.

Mulligan LM

Nature Reviews. Cancer, 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

A differential diagnosis of inherited endocrine tumors and their tumor counterparts.

Toledo SP et al.

Clinics (sao Paulo, Brazil), 2013

The optimal range of RET mutations to be tested: European comments to the guidelines of the American Thyroid Association.

Fugazzola L et al.

Thyroid Research, 2013

Advanced medullary thyroid cancer: pathophysiology and management.

Ferreira CV et al.

Cancer Management and Research, 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

Molecular basis of medullary thyroid carcinoma: the role of RET polymorphisms.

Ceolin L et al.

International Journal of Molecular Sciences, 2012

Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2.

Wagner SM et al.

Clinics (sao Paulo, Brazil), 2012

Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene.

Crockett DK et al.

Plos One, 2011

RET codon 804 mutations in multiple endocrine neoplasia 2: genotype-phenotype correlations and implications in clinical management.

Mukherjee S et al.

Clinical Genetics, 2011

Multiple Endocrine Neoplasia Type 2B: Early Diagnosis by Multiple Mucosal Neuroma and Its DNA Analysis.

Lee MJ et al.

Annals of Dermatology, 2010

Medullary thyroid carcinoma.

Pacini F et al.

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

Multiple endocrine neoplasia type 2.

Wohllk N et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2010

High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene.

Toledo RA et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

Targeting the RET pathway in thyroid cancer.

Wells SA et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2009

Beyond RET: potential therapeutic approaches for advanced and metastatic medullary thyroid carcinoma.

Santarpia L et al.

Journal of Internal Medicine, 2009

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

Kloos RT et al.

Thyroid : Official Journal of the American Thyroid Association, 2009

Early diagnosis of multiple endocrine neoplasia type 2B: a challenge for physicians.

Camacho CP et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2008

Multiple endocrine neoplasia.

White ML et al.

Surgical Oncology Clinics of North America, 2008

RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds.

Fialkowski EA et al.

Journal of Pediatric Surgery, 2008

Current approaches to medullary thyroid carcinoma, sporadic and familial.

Fialkowski EA et al.

Journal of Surgical Oncology, 2006

RET is constitutively activated by novel tandem mutations that alter the active site resulting in multiple endocrine neoplasia type 2B.

Cranston AN et al.

Cancer Research, 2006

[Thyroid carcinomas and Hirschsprung's disease--10-year experience with molecular genetic testing of the RET proto-oncogene].

Bendlová B et al.

Vnitrni Lekarstvi, 2006

Molecular advances in medullary thyroid cancer diagnostics.

Hubner RA et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006

Phenotypic multiple endocrine neoplasia type 2B, without endocrinopathy or RET gene mutation: implications for management.

Spyer G et al.

Thyroid : Official Journal of the American Thyroid Association, 2006

New multiple somatic mutations in the RET proto-oncogene associated with a sporadic medullary thyroid carcinoma.

Dvoráková S et al.

Thyroid : Official Journal of the American Thyroid Association, 2006

[Prophylactic thyroid surgery].

Frilling A et al.

Der Chirurg; Zeitschrift Fur Alle Gebiete Der Operativen Medizen, 2006

Drug insight: Small-molecule inhibitors of protein kinases in the treatment of thyroid cancer.

Santoro M et al.

Nature Clinical Practice. Endocrinology & Metabolism, 2006

A Drosophila model of multiple endocrine neoplasia type 2.

Read RD et al.

Genetics, 2005

RET proto-oncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors.

Kouvaraki MA et al.

Thyroid : Official Journal of the American Thyroid Association, 2005

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