Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.C531R
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RET

NM_020975.6:p.C531R

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

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

Elisei R et al.

Endocrine, 2023

Personalized Medicine in Medullary Thyroid Carcinoma: A Broad Review of Emerging Treatments.

Martins RS et al.

Journal of Personalized Medicine, 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

Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.

Larsen LV et al.

Endocrine Connections, 2020

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

A rare missense variant in RET exon 8 in a Portuguese family with atypical multiple endocrine neoplasia type 2A.

Martins AF et al.

Hormones (athens, Greece), 2016

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

Identification and characterization of two novel germline RET variants associated with medullary thyroid carcinoma.

Silva AL et al.

Endocrine, 2015

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 prevalence of exon 8 G533C mutation in apparently sporadic medullary thyroid carcinoma in Greece.

Sarika HL et al.

Clinical Endocrinology, 2012

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

The RET p.G533C mutation confers predisposition to multiple endocrine neoplasia type 2A in a Brazilian kindred and is able to induce a malignant phenotype in vitro and in vivo.

Oliveira MN et al.

Thyroid : Official Journal of the American Thyroid Association, 2011

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

Crockett DK et al.

Plos One, 2011

Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro.

Muzza M et al.

European Journal of Endocrinology, 2010

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