Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.C618Y
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RET

NM_020975.6:p.C618Y

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

The shifting landscape of germline RET pathogenic variants with the introduction of panel testing.

Onuma AE et al.

Surgery, 2026

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

Geospatial inheritance across the breath of the RET mutational landscape of multiple endocrine neoplasia 2A.

Machens A et al.

Endocrine, 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

40934230 (PubMed )
Supplement: pone.0332136.s003.docx

Presentation of multiple endocrine neoplasia type 2A-associated ectopic cushing's syndrome: case report and a systematic review.

Wang W et al.

Frontiers in Endocrinology, 2025

Genetic landscape of Romanian PPGLs.

Lider-Burciulescu SM et al.

Journal of Cellular and Molecular Medicine, 2024

Integrating Genetic Alterations and Histopathological Features for Enhanced Risk Stratification in Non-Muscle-Invasive Bladder Cancer.

Lillesand M et al.

Diagnostics (basel, Switzerland), 2024

39410541 (PubMed )
Supplement: diagnostics-14-02137-s001.zip › Table_S2.xlsx › Table_S2

Similar genetic profile in early and late stage urothelial tract cancer.

Stormoen DR et al.

Journal of Cancer Research and Clinical Oncology, 2024

38976041 (PubMed )
Supplement: 432_2024_5850_MOESM2_ESM.xlsx › Phase1_cohort

Multiple endocrine neoplasia type 2: towards a risk-based approach integrating molecular and biomarker results.

Machens A et al.

Current Opinion in Oncology, 2024

Targeting the RET tyrosine kinase in neuroblastoma: A review and application of a novel selective drug design strategy.

Steen EA et al.

Biochemical Pharmacology, 2023

Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A in Denmark 1930–2021: A Nationwide Population-Based Retrospective Study

Holm M et al.

Cancers, 2023

Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.

Bhai P et al.

Frontiers in Oncology, 2023

37483495 (PubMed )
Supplement: Table_6.xlsx › Comprehensive_panel

The landscape of actionable genomic alterations in lung adenocarcinomas in India.

Sharma R et al.

Frontiers in Genetics, 2023

A Novel Germline Deletion of p.C630 in RET Causes MTC and Promotes Cell Proliferation and Sensitivity to Pralsetinib.

Ma X et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.

Tabebi M et al.

Cancers, 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

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

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

Chiacchiarini M et al.

Pharmacology & Therapeutics, 2021

Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time.

van Rooij J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Plasma or Serum: Which Is Preferable for Mutation Detection in Liquid Biopsy?

Pittella-Silva F et al.

Clinical Chemistry, 2020

Analysis of Cell-Free DNA from 32,989 Advanced Cancers Reveals Novel Co-occurring Activating RET Alterations and Oncogenic Signaling Pathway Aberrations.

Rich TA et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

RET S409Y Germline Mutation and Associated Medullary Thyroid Carcinoma.

Qi XP et al.

Thyroid : Official Journal of the American Thyroid Association, 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

Survival and Long-Term Biochemical Cure in Medullary Thyroid Carcinoma in Denmark 1997-2014: A Nationwide Study.

Mathiesen JS et al.

Thyroid : Official Journal of the American Thyroid Association, 2019

Completeness of RET testing in patients with medullary thyroid carcinoma in Denmark 1997-2013: a nationwide study.

Mathiesen JS et al.

Clinical Epidemiology, 2019

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

Pezzani R et al.

International Journal of Endocrinology, 2019

Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect.

Fanis P et al.

Journal of Endocrinological Investigation, 2018

Genotype-specific progression of hereditary medullary thyroid cancer.

Machens A et al.

Human Mutation, 2018

Incidence and prevalence of sporadic and hereditary MTC in Denmark 1960-2014: a nationwide study.

Mathiesen JS et al.

Endocrine Connections, 2018

Incidence and prevalence of multiple endocrine neoplasia 2A in Denmark 1901-2014: a nationwide study.

Mathiesen JS et al.

Clinical Epidemiology, 2018

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.

Lebeault M et al.

Thyroid : Official Journal of the American Thyroid Association, 2017

28946813 (PubMed )
Supplement: sj-pdf-1-thy-10.1089_thy.2016.0399.pdf

Founder Effect of the RETC611Y Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study.

Mathiesen JS et al.

Thyroid : Official Journal of the American Thyroid Association, 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

New insights in the molecular signature of advanced medullary thyroid cancer: evidence of a bad outcome of cases with double RET mutations.

Romei C et al.

Journal of Medical Genetics, 2016

Diversity of mutations in the RET proto-oncogene and its oncogenic mechanism in medullary thyroid cancer.

Hedayati M et al.

Critical Reviews in Clinical Laboratory Sciences, 2016

Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples.

Dallol A et al.

Journal of Translational Medicine, 2016

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

Screening of RET gene mutations in Chinese patients with medullary thyroid carcinoma and their relatives.

Wang J et al.

Familial Cancer, 2016

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

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

Molecular diagnosis and comprehensive treatment of multiple endocrine neoplasia type 2 in Southeastern Chinese.

Zhao JQ et al.

Hereditary Cancer in Clinical Practice, 2015

The value of genetic screening in medullary thyroid cancer.

Pappa T et al.

Expert Review of Endocrinology & Metabolism, 2014

Prophylactic thyroidectomy for MEN 2-related medullary thyroid carcinoma based on predictive testing for RET proto-oncogene mutation and basal serum calcitonin in China.

Qi XP et al.

European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology, 2013

[Clinical diagnosis and treatment of familial medullary thyroid carcinoma caused by a p.C618Y RET proto-oncogene mutation in a Chinese pedigree].

Zhao JQ et al.

Zhonghua Yi Xue Za Zhi, 2013

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