Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.V778I
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RET

NM_020975.6:p.V778I

Associated Papers

Medullary thyroid carcinoma exclusively associated with a homozygous RET V778I pathogenic variant: a case report with review of literature.

Kihara M et al.

Endocrine Journal, 2026

Discovery of APS03118, a Potent and Selective Next-Generation RET Inhibitor with a Novel Kinase Hinge Scaffold.

Zhong J et al.

Journal of Medicinal Chemistry, 2025

Real-world data analysis of next-generation sequencing and corresponding clinical characteristics in thyroid tumor.

Chen XF et al.

Endocrine Connections, 2024

39235852 (PubMed )
Supplement: supplementary_tables.pdf

Mutational landscape of inflammatory breast cancer.

Bertucci F et al.

Journal of Translational Medicine, 2024

38637846 (PubMed )
Supplement: 12967_2024_5198_MOESM3_ESM.xlsx › Table_S3

Identifying Lymph Node Metastasis-Related Factors in Breast Cancer Using Differential Modular and Mutational Structural Analysis.

Liu X et al.

Interdisciplinary Sciences, Computational Life Sciences, 2023

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

Elisei R et al.

Endocrine, 2023

[Hereditary medullary thyroid cancer].

Fendrich V et al.

Chirurgie (heidelberg, Germany), 2023

Relationship between driver gene mutations and clinical pathological characteristics in older lung adenocarcinoma.

Liu X et al.

Frontiers in Oncology, 2023

38023198 (PubMed )
Supplement: Table_1.xlsx › Table_S2

An integrative pan cancer analysis of RET aberrations and their potential clinical implications.

Zhou L et al.

Scientific Reports, 2022

35978072 (PubMed )
Supplement: 41598_2022_17791_MOESM3_ESM.xlsx › table

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

Genetic alteration of Chinese patients with rectal mucosal melanoma.

Li H et al.

Bmc Cancer, 2021

34044811 (PubMed )
Supplement: 12885_2021_8383_MOESM1_ESM.xlsx › Supplementary_Table_1

Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.

Hoefflin R et al.

Cancers, 2021

33800365 (PubMed )
Supplement: cancers-13-01151-s001.zip › Supplementary_Data_1.xlsx › S_Data_1

Profiling Oncogenic Germline Mutations in Unselected Chinese Lung Cancer Patients.

Yang J et al.

Frontiers in Oncology, 2021

33898318 (PubMed )
Supplement: Table_1.xlsx › Sheet1

The synergy of germline C634Y and V292M RET mutations in a northern Chinese family with multiple endocrine neoplasia type 2A.

Yang Z et al.

Journal of Cellular and Molecular Medicine, 2020

p.Ser891Ala RET gene mutations in medullary thyroid cancer: Phenotypical and genealogical characterization of 28 apparently unrelated kindreds and founder effect uncovering in Northern Italy.

Giacché M et al.

Human Mutation, 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

Rare RET Variant p.D707E in a Chinese Pedigree with Hereditary Medullary Thyroid Carcinoma.

Zhang L et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2017

RET mutation p.S891A in a Chinese family with familial medullary thyroid carcinoma and associated cutaneous amyloidosis binding OSMR variant p.G513D.

Qi XP et al.

Oncotarget, 2015

Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

Wong SQ et al.

British Journal of Cancer, 2015

25742471 (PubMed )
Supplement: bjc201580x7.xls › Supp_Table_3

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

Tandem Germline RET Mutations in a Family Pathogenetic for Multiple Endocrine Neoplasia 2B, Confirmed by a Natural Experiment.

Kihara M et al.

European Thyroid Journal, 2014

In silico profiling and structural insights of missense mutations in RET protein kinase domain by molecular dynamics and docking approach.

George Priya Doss C et al.

Molecular Biosystems, 2014

The optimal range of RET mutations to be tested: European comments to the guidelines of the American Thyroid Association.

Fugazzola L et al.

Thyroid Research, 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

Functional characterization of the MTC-associated germline RET-K666E mutation: evidence of oncogenic potential enhanced by the G691S polymorphism.

Borrello MG et al.

Endocrine-related Cancer, 2011

Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene.

Crockett DK et al.

Plos One, 2011

RET codon 804 mutations in multiple endocrine neoplasia 2: genotype-phenotype correlations and implications in clinical management.

Mukherjee S et al.

Clinical Genetics, 2011

RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family.

Qi XP et al.

Plos One, 2011

AIP gene and familial isolated pituitary adenomas.

Ozfirat Z et al.

Molecular and Cellular 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

The tyrosine kinase receptor RET interacts in vivo with aryl hydrocarbon receptor-interacting protein to alter survivin availability.

Vargiolu M et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Array-comparative genomic hybridization in sporadic benign pheochromocytomas.

van Nederveen FH et al.

Endocrine-related Cancer, 2009

Medullary thyroid cancer: management guidelines of the American Thyroid Association.

Kloos RT et al.

Thyroid : Official Journal of the American Thyroid Association, 2009

Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations.

Margraf RL et al.

Human Mutation, 2009

Asymptomatic bilateral adrenal pheochromocytoma in a patient with a germline V804M mutation in the RET proto-oncogene.

Recasens M et al.

Clinical Endocrinology, 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 is constitutively activated by novel tandem mutations that alter the active site resulting in multiple endocrine neoplasia type 2B.

Cranston AN et al.

Cancer Research, 2006

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

de Groot JW et al.

Endocrine Reviews, 2006

An introduction to managing medullary thyroid cancer.

de Groot JW et al.

Hereditary Cancer in Clinical Practice, 2006

Molecular pathogenesis of MEN2-associated tumors.

Koch CA

Familial Cancer, 2005

Multiple endocrine neoplasia type 2.

Peczkowska M et al.

Familial Cancer, 2005

Minireview: RET: normal and abnormal functions.

Santoro M et al.

Endocrinology, 2004

Multiple endocrine neoplasia 2B syndrome due to codon 918 mutation: clinical manifestation and course in early and late onset disease.

Brauckhoff M et al.

World Journal of Surgery, 2004

Disease associated mutations at valine 804 in the RET receptor tyrosine kinase confer resistance to selective kinase inhibitors.

Carlomagno F et al.

Oncogene, 2004

Medullary thyroid carcinoma.

Brauckhoff M et al.

Scandinavian Journal of Surgery : Sjs : Official Organ for the Finnish Surgical Society and the Scandinavian Surgical Society, 2004

RET and NTRK1 proto-oncogenes in human diseases.

Alberti L et al.

Journal of Cellular Physiology, 2003

Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET.

Kasprzak L et al.

Journal of Medical Genetics, 2001

The genetics of endocrine neoplasia.

Nagy R

Current Problems in Cancer, 0

Pediatric Medullary Thyroid Carcinoma.

Starenki D et al.

Journal of Pediatric Oncology, 0

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