Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.C609S
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RET

NM_020975.6:p.C609S

Associated Papers

Comparison between next-generation sequencing and multiplex polymerase chain reaction assays for nonsmall-cell lung cancer molecular diagnosis.

Murakami S et al.

Cancer Medicine, 2024

38572952 (PubMed )
Supplement: CAM4-13-e7162-s003.xlsx › DNA_mutations

Looking for RET alterations in thyroid cancer: clinical relevance, methodology and timing.

Elisei R et al.

Endocrine, 2023

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

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

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

Salvatore D et al.

Nature Reviews. Endocrinology, 2021

Role of tissue and circulating microRNAs and DNA as biomarkers in medullary thyroid cancer.

Chiacchiarini M et al.

Pharmacology & Therapeutics, 2021

Glutaminases as a Novel Target for SDHB-Associated Pheochromocytomas/Paragangliomas.

Sarkadi B et al.

Cancers, 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

Novel Prognostic Factors Associated with Cell Cycle Control in Sporadic Medullary Thyroid Cancer Patients.

Pezzani R et al.

International Journal of Endocrinology, 2019

Actionable secondary findings from whole-genome sequencing of 954 East Asians.

Tang CS et al.

Human Genetics, 2018

Prognostic Impact of miR-224 and RAS Mutations in Medullary Thyroid Carcinoma.

Cavedon E et al.

International Journal of Endocrinology, 2017

Early, Prophylactic Thyroidectomy in Hereditary Medullary Thyroid Carcinoma: A 26-year Monoinstitutional Experience.

Pelizzo MR et al.

American Journal of Clinical Oncology, 2015

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

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

Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma.

Crona J et al.

Plos One, 2015

The value of genetic screening in medullary thyroid cancer.

Pappa T et al.

Expert Review of Endocrinology & Metabolism, 2014

Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.

Crona J et al.

Plos One, 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

High penetrance of pheochromocytoma in multiple endocrine neoplasia 2 caused by germ line RET codon 634 mutation in Japanese patients.

Imai T et al.

European Journal of Endocrinology, 2013

Measurement of calcitonin and calcitonin gene-related peptide mRNA refines the management of patients with medullary thyroid cancer and may replace calcitonin-stimulation tests.

Camacho CP et al.

Thyroid : Official Journal of the American Thyroid Association, 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

RET codon 609 mutations: a contribution for better clinical managing.

Mian C et al.

Clinics (sao Paulo, Brazil), 2012

Genetic and clinical features of multiple endocrine neoplasia types 1 and 2.

Romei C et al.

Journal of Oncology, 2012

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

RET germline mutations in codon 609 and MEN2A phenotype: are they all created equal?

Machens A et al.

Annals of Surgical Oncology, 2010

Multiple endocrine neoplasia type 2.

Lips CJ et al.

Expert Review of Endocrinology & Metabolism, 2009

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

Calva D et al.

Annals of Surgical Oncology, 2009

Characterization of the largest kindred with MEN2A due to a Cys609Ser RET mutation.

Mian C et al.

Familial Cancer, 2009

Histopathologic and clinical features of medullary microcarcinoma and C-cell hyperplasia in prophylactic thyroidectomies for medullary carcinoma: a study of 42 cases.

Etit D et al.

Archives of Pathology & Laboratory Medicine, 2008

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

[Molecular biology, basic research and diagnosis of Hirschsprung's disease].

Martucciello G et al.

Der Pathologe, 2007

Genotype-phenotype correlations in Hungarian patients with hereditary medullary thyroid cancer.

Patocs A et al.

Wiener Klinische Wochenschrift, 2006

Evaluation of the role of RET polymorphisms/haplotypes as modifier loci for MEN 2, and analysis of the correlation with the type of RET mutation in a series of Spanish patients.

Fernández RM et al.

International Journal of Molecular Medicine, 2006

RET receptor signaling: dysfunction in thyroid cancer and Hirschsprung's disease.

Asai N et al.

Pathology International, 2006

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

Margraf RL et al.

Human Mutation, 2006

Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma.

Kinlaw WB et al.

Clinical Endocrinology, 2005

Multiple endocrine neoplasia type 2.

Peczkowska M et al.

Familial Cancer, 2005

Interaction of RET proto-oncogene codon 609 germline mutations with RET haplotypes characterized by c.135G>A alleles modifying MEN 2A or HSCR phenotypes.

Fitze G et al.

American Journal of Medical Genetics. Part A, 2004

Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease.

Fitze G et al.

Lancet (london, England), 2002

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