Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.C620W
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RET

NM_020975.6:p.C620W

Associated Papers

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

Pre- and Post-operative Circulating Tumoral DNA in Patients With Medullary Thyroid Carcinoma.

Ciampi R et al.

The Journal of Clinical Endocrinology and Metabolism, 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

The importance of the RET gene in thyroid cancer and therapeutic implications.

Salvatore D et al.

Nature Reviews. Endocrinology, 2021

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

Medullary Thyroid Carcinoma With Exon 2 p.L56M RET Variant: Clinical Particular Features in Two Patients.

Paragliola RM et al.

Frontiers in Endocrinology, 2018

The diagnostic application of RNA sequencing in patients with thyroid cancer: an analysis of 851 variants and 133 fusions in 524 genes.

Pagan M et al.

Bmc Bioinformatics, 2016

26818556 (PubMed )
Supplement: 12859_2015_849_MOESM3_ESM.pdf

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

25425582 (PubMed )
Supplement: supp_ERC-14-0491_Supplementary_table_2.xlsx › Sheet1

The value of genetic screening in medullary thyroid cancer.

Pappa T et al.

Expert Review of Endocrinology & Metabolism, 2014

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

Hirschsprung disease of the colon, a vaginal mass and medullary thyroid cancer - a RET oncogene driven problem.

Pandey R et al.

Journal of Gastrointestinal Oncology, 2011

Management of medullary thyroid carcinoma and MEN2 syndromes in childhood.

Waguespack SG et al.

Nature Reviews. Endocrinology, 2011

Variant identification in multi-sample pools by illumina genome analyzer sequencing.

Margraf RL et al.

Journal of Biomolecular Techniques : Jbt, 2011

Multi-sample pooling and illumina genome analyzer sequencing methods to determine gene sequence variation for database development.

Margraf RL et al.

Journal of Biomolecular Techniques : Jbt, 2010

Familial associations in medullary thyroid carcinoma with Hirschsprung disease: the role of the RET-C620 "Janus" genetic variation.

Moore SW et al.

Journal of Pediatric Surgery, 2010

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

Familial medullary carcinoma prevention, risk evaluation, and RET in children of families with MEN2.

Moore SW et al.

Journal of Pediatric Surgery, 2007

Masking selected sequence variation by incorporating mismatches into melting analysis probes.

Margraf RL et al.

Human Mutation, 2006

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

Dvoráková S et al.

Journal of Pediatric Surgery, 2005

Multiple endocrine neoplasia type 2.

Peczkowska M et al.

Familial Cancer, 2005

Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease.

Nishikawa M et al.

European Journal of Human Genetics : Ejhg, 2003

Oncological implications of RET gene mutations in Hirschsprung's disease.

Sijmons RH et al.

Gut, 1998

Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.

Decker RA et al.

Human Molecular Genetics, 1998

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

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