Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.C609R
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RET

NM_020975.6:p.C609R

Associated Papers

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

Srivastava A et al.

European Journal of Endocrinology, 2025

Surgical Treatment of Medullary Thyroid Cancer.

Machens A et al.

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

Genotype-phenotype correlations of germline mutations in exon 10 of the RET proto-oncogene from 14 MEN2A families of Ethnic Han Chinese.

Li F et al.

Plos One, 2025

Beyond tobacco: genomic disparities in lung cancer between smokers and never-smokers.

Garrido J et al.

Bmc Cancer, 2024

39097719 (PubMed )
Supplement: 12885_2024_12737_MOESM2_ESM.xlsx › Table_S1

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

Ohmoto A et al.

Hereditary Cancer in Clinical Practice, 2024

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

High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses.

Vaknin N et al.

Prenatal Diagnosis, 2022

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

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

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

A Narrative Review of Genetic Alterations in Primary Thyroid Epithelial Cancer.

Romei C et al.

International Journal of Molecular Sciences, 2021

RET S409Y Germline Mutation and Associated Medullary Thyroid Carcinoma.

Qi XP et al.

Thyroid : Official Journal of the American Thyroid Association, 2019

Twenty-Five Years Experience on RET Genetic Screening on Hereditary MTC: An Update on The Prevalence of Germline RET Mutations.

Elisei R et al.

Genes, 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

Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant.

Virtanen VB et al.

European Journal of Medical Genetics, 2019

[Familial medullary thyroid carcinoma: case report and literature review.]

Barletta Carrillo CF et al.

Revista De La Facultad De Ciencias Medicas (cordoba, Argentina), 2018

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

Advances in risk-oriented surgery for multiple endocrine neoplasia type 2.

Machens A et al.

Endocrine-related Cancer, 2018

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

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

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

Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.

Giannoulatou E et al.

Plos One, 2017

28542371 (PubMed )
Supplement: pone.0178169.s009.xlsx › S6C_Table__Target_coverage

Twenty years of lesson learning: how does the RET genetic screening test impact the clinical management of medullary thyroid cancer?

Romei C et al.

Clinical Endocrinology, 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

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

Genes of detoxification are important modulators of hereditary medullary thyroid carcinoma risk.

Barbieri RB et al.

Clinical Endocrinology, 2013

Overexpression of miR-10a and miR-375 and downregulation of YAP1 in medullary thyroid carcinoma.

Hudson J et al.

Experimental and Molecular Pathology, 2013

Thyroid cancer and co-occurring RET mutations in Hirschsprung disease.

Virtanen VB et al.

Endocrine-related Cancer, 2013

Molecular epidemiology of multiple endocrine neoplasia 2: implications for RET screening in the new millenium.

Machens A et al.

European Journal of Endocrinology, 2013

A Case of medullary thyroid carcinoma with de novo V804M RET germline mutation.

Choi YS et al.

Journal of Korean Medical Science, 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

Multiple endocrine neoplasia type 2.

Wohllk N et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2010

[Medullary thyroid cancer, a tumour with many appearances].

Verbeek HH et al.

Nederlands Tijdschrift Voor Geneeskunde, 2010

When is prophylactic thyroidectomy indicated for patients with the RET codon 609 mutation?

Calva D et al.

Annals of Surgical Oncology, 2009

RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center.

Elisei R et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

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

RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors.

de Groot JW et al.

Endocrine Reviews, 2006

Molecular implications of RET mutations for pheochromocytoma risk in multiple endocrine neoplasia 2.

Gujral TS et al.

Annals of the New York Academy of Sciences, 2006

An introduction to managing medullary thyroid cancer.

de Groot JW et al.

Hereditary Cancer in Clinical Practice, 2006

A novel Czech kindred with familial medullary thyroid carcinoma and Hirschsprung's disease.

Dvoráková S et al.

Journal of Pediatric Surgery, 2005

Polymerase chain reaction-single strand conformational polymorphism analysis of rearranged during transfection proto-oncogene in Chinese familial Hirschsprung's disease.

Guan T et al.

World Journal of Gastroenterology, 2005

Multiple endocrine neoplasia type 2.

Peczkowska M et al.

Familial Cancer, 2005

Early malignant progression of hereditary medullary thyroid cancer.

Machens A et al.

The New England Journal of Medicine, 2003

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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."