Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.R600Q
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RET

NM_020975.6:p.R600Q

Associated Papers

Prioritization of predisposition genes for familial non-medullary thyroid cancer by whole-genome sequencing.

Srivastava A et al.

European Journal of Endocrinology, 2025

Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.

Fasching PA et al.

Npj Breast Cancer, 2024

39003306 (PubMed )
Supplement: 41523_2024_667_MOESM1_ESM.pdf

RET-Altered Cancers-A Tumor-Agnostic Review of Biology, Diagnosis and Targeted Therapy Activity.

Desilets A et al.

Cancers, 2023

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

Elisei R et al.

Endocrine, 2023

Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing.

Park HS et al.

Frontiers in Endocrinology, 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

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

[Familial medullary thyroid carcinoma: case report and literature review.]

Barletta Carrillo CF et al.

Revista De La Facultad De Ciencias Medicas (cordoba, Argentina), 2018

p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer.

Loveday C et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_AD

Multiple Endocrine Neoplasia Syndromes from Genetic and Epigenetic Perspectives.

Khatami F et al.

Biomarker Insights, 2018

RET Aberrations in Diverse Cancers: Next-Generation Sequencing of 4,871 Patients.

Kato S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

27683183 (PubMed )
Supplement: 10780432ccr161679-sup-168576_1_supp_3636667_wcc1ns.docx

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

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

Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update.

Wells SA et al.

The Journal of Clinical Endocrinology and Metabolism, 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

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

Crockett DK et al.

Plos One, 2011

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

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

Kloos RT et al.

Thyroid : Official Journal of the American Thyroid Association, 2009

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

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

A new germline mutation, R600Q, within the coding region of RET proto-oncogene: a rare polymorphism or a MEN 2 causing mutation?

Sáez ME et al.

Human Mutation, 2000

Pediatric Medullary Thyroid Carcinoma.

Starenki D et al.

Journal of Pediatric Oncology, 0

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