Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.V648I
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RET

NM_020975.6:p.V648I

Associated Papers

Complex genetic landscape in CLL: Clinical impact on patients' survival and insights into the altered molecular pathways.

Caputo C et al.

Molecular Therapy. Oncology, 2025

41035777 (PubMed )
Supplement: mmc1.pdf

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

Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.

Deyell RJ et al.

Nature Communications, 2024

38755180 (PubMed )
Supplement: 41467_2024_48363_MOESM7_ESM.xlsx › Figure_2A__right_

Monitoring the Outcomes of Systemic Chemotherapy Including Immune Checkpoint Inhibitor for HER2-Positive Metastatic Gastric Cancer by Liquid Biopsy.

Jung SH et al.

Yonsei Medical Journal, 2023

37634629 (PubMed )
Supplement: ymj-64-531-s003.pdf

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

Elisei R et al.

Endocrine, 2023

Novel Calcium-Binding Ablating Mutations Induce Constitutive RET Activity and Drive Tumorigenesis.

Tabata J et al.

Cancer Research, 2022

36166639 (PubMed )
Supplement: can-22-0834_supplementary_table_s1_suppst1.xlsx › Supplementary_Table_S1

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

NTRK fusion positive colorectal cancer is a unique subset of CRC with high TMB and microsatellite instability.

Wang H et al.

Cancer Medicine, 2022

35506567 (PubMed )
Supplement: CAM4-11-2541-s004.pdf

The repertoire of germline variants in patients with early-onset rectal cancer.

Beltrami CM et al.

Cancer Communications (london, England), 2022

35029067 (PubMed )
Supplement: CAC2-42-481-s003.xlsx › Supp._Table_S3

Genomic Landscape of RTK/RAS Pathway and Tumor Immune Infiltration as Prognostic Indicator of Lung Adenocarcinoma.

Yin XQ et al.

Frontiers in Oncology, 2022

35936718 (PubMed )
Supplement: Table_4.xlsx › MAF_infomation

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

RET Proto-Oncogene Mutational Analysis in 45 Iranian Patients Affected with Medullary Thyroid Carcinoma: Report of a New Variant.

Damavandi E et al.

Journal of Thyroid Research, 2021

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

31745186 (PubMed )
Supplement: 41598_2019_52000_MOESM2_ESM.xlsx › Sheet1

Twenty-Five Years Experience on RET Genetic Screening on Hereditary MTC: An Update on The Prevalence of Germline RET Mutations.

Elisei R et al.

Genes, 2019

Validation of the Oncomine™ focus panel for next-generation sequencing of clinical tumour samples.

Williams HL et al.

Virchows Archiv : an International Journal of Pathology, 2018

30105577 (PubMed )
Supplement: 428_2018_2411_MOESM1_ESM.xlsx › REF4

PIK3CA mutation is a favorable prognostic factor in esophageal cancer: molecular profile by next-generation sequencing using surgically resected formalin-fixed, paraffin-embedded tissue.

Yokota T et al.

Bmc Cancer, 2018

30115035 (PubMed )
Supplement: 12885_2018_4733_MOESM1_ESM.xlsx › raw_data_of_mutations

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon

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

Mobile Genome Express (MGE): A comprehensive automatic genetic analyses pipeline with a mobile device.

Yoon JH et al.

Plos One, 2017

AKT1 and BRAF mutations in pediatric aggressive fibromatosis.

Meazza C et al.

Cancer Medicine, 2016

Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.

Naves LA et al.

Endocrine, 2016

A NOVEL DOUBLE MUTATION VAL648ILE AND VAL804LEU OF RET PROTO-ONCOGENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 2.

Verrienti A et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 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

Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.

Siroy AE et al.

The Journal of Investigative Dermatology, 2015

25148578 (PubMed )
Supplement: NIHMS622327-supplement-supplement_1.pdf

Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Toledo RA et al.

Endocrine-related Cancer, 2015

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

In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer.

Cosci B 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 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

High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene.

Toledo RA et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

Screening of RET gene mutations in multiple endocrine neoplasia type-2 using conformation sensitive gel electrophoresis (CSGE).

Santos MA et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2007

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

de Groot JW et al.

Endocrine Reviews, 2006

Impact of RET proto-oncogene analysis on the clinical management of multiple endocrine neoplasia type 2.

Toledo SP et al.

Clinics (sao Paulo, Brazil), 2006

[Genetic screening of multiple endocrine neoplasia type 2: experience of the USP Endocrine Genetics Unit].

Santos MA et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2006

Molecular diagnosis of multiple endocrine neoplasia Type 2.

Bugalho MJ et al.

Expert Review of Molecular Diagnostics, 2003

A novel Val648Ile substitution in RET protooncogene observed in a Cys634Arg multiple endocrine neoplasia type 2A kindred presenting with an adrenocorticotropin-producing pheochromocytoma.

Nunes AB et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

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