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

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

Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in central congenital hyperventilation syndrome patients by multiplex ligation-dependent probe amplification.

Serra A et al.

Annals of Human Genetics, 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

Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in 80 patients with Hirschsprung disease (using multiplex ligation-dependent probe amplification).

Serra A et al.

Annals of Human Genetics, 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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