Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.C630F
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RET

NM_020975.6:p.C630F

Associated Papers

Molecular profiling of sporadic medullary thyroid carcinomas - a next-generation sequencing-based study.

Altinay S et al.

Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists, 2025

RET kinase inhibitors for the treatment of RET-altered thyroid cancers: Current knowledge and future directions.

Hamidi S et al.

Annales D'endocrinologie, 2024

Progress and challenges in RET-targeted cancer therapy.

Hu X et al.

Frontiers of Medicine, 2023

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

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

Chiacchiarini M et al.

Pharmacology & Therapeutics, 2021

Establishment and characterization of a novel cell line of medullary thyroid carcinoma from a dog.

Okano K et al.

In Vitro Cellular & Developmental Biology. Animal, 2019

Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.

Giannoulatou E et al.

Plos One, 2017

28542371 (PubMed )
Supplement: pone.0178169.s009.xlsx › S6C_Table__Target_coverage

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_3.xlsx › Sheet1

RET recognition of GDNF-GFRα1 ligand by a composite binding site promotes membrane-proximal self-association.

Goodman KM et al.

Cell Reports, 2014

The value of genetic screening in medullary thyroid cancer.

Pappa T et al.

Expert Review of Endocrinology & Metabolism, 2014

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

Beyond RET: potential therapeutic approaches for advanced and metastatic medullary thyroid carcinoma.

Santarpia L et al.

Journal of Internal Medicine, 2009

A family of multiple endocrine neoplasia type 2A (MEN 2A) with Cys630Tyr RET germline mutation: report of a case.

Yonekawa H et al.

Endocrine Journal, 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 receptor signaling: dysfunction in thyroid cancer and Hirschsprung's disease.

Asai N et al.

Pathology International, 2006

Drug insight: Small-molecule inhibitors of protein kinases in the treatment of thyroid cancer.

Santoro M et al.

Nature Clinical Practice. Endocrinology & Metabolism, 2006

Penetrance and clinical manifestations of non-hotspot germline RET mutation, C630R, in a family with medullary thyroid carcinoma.

Dourisboure RJ et al.

Thyroid : Official Journal of the American Thyroid Association, 2005

Multiple endocrine neoplasia type 2.

Peczkowska M et al.

Familial Cancer, 2005

Emergence of medullary thyroid carcinoma in a family with the Cys630Arg RET germline mutation.

Machens A et al.

Surgery, 2004

[Study of RET protooncogene in multiple endocrine neoplasm 2A and in familial medullary thyroid carcinoma. Clinical pathological findings in asymptomatic carriers].

Belli S et al.

Medicina, 2003

Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type.

Uchino S et al.

Japanese Journal of Cancer Research : Gann, 1999

Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and hirschsprung disease.

Eng C et al.

Human Mutation, 1997

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."