Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.E805K
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RET

NM_020975.6:p.E805K

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

Prioritization of predisposition genes for familial non-medullary thyroid cancer by whole-genome sequencing.

Srivastava A et al.

European Journal of Endocrinology, 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

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

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

Identifying novel oncogenic RET mutations and characterising their sensitivity to RET-specific inhibitors.

Zhao Z et al.

Journal of Medical Genetics, 2020

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

Fifty Years After the First Description, MEN 2B Syndrome Diagnosis Is Still Late: Descriptions of Two Recent Cases.

Elisei R et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

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

A comprehensive overview of the role of the RET proto-oncogene in thyroid carcinoma.

Romei C et al.

Nature Reviews. Endocrinology, 2016

How to Assess the Clinical Relevance of Novel RET Missense Variants in the Absence of Functional Studies?

Karrasch T et al.

European Thyroid Journal, 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

Molecular pathology of hereditary and sporadic medullary thyroid carcinomas.

Chernock RD et al.

American Journal of Clinical Pathology, 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

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

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

Wagner SM et al.

Clinics (sao Paulo, Brazil), 2012

Functional characterization of the MTC-associated germline RET-K666E mutation: evidence of oncogenic potential enhanced by the G691S polymorphism.

Borrello MG et al.

Endocrine-related Cancer, 2011

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

RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family.

Qi XP et al.

Plos One, 2011

How to Treat a Signal? Current Basis for RET-Genotype-Oriented Choice of Kinase Inhibitors for the Treatment of Medullary Thyroid Cancer.

Prazeres H et al.

Journal of Thyroid Research, 2011

Multiple endocrine neoplasia type 2.

Wohllk N et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2010

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

Identification of tyrosine 806 as a molecular determinant of RET kinase sensitivity to ZD6474.

Carlomagno F et al.

Endocrine-related Cancer, 2009

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

Camacho CP et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2008

Sorafenib functions to potently suppress RET tyrosine kinase activity by direct enzymatic inhibition and promoting RET lysosomal degradation independent of proteasomal targeting.

Plaza-Menacho I et al.

The Journal of Biological Chemistry, 2007

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

The genetics of endocrine neoplasia.

Nagy R

Current Problems in Cancer, 0

Pediatric Medullary Thyroid Carcinoma.

Starenki D et al.

Journal of Pediatric Oncology, 0

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