Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.L212M
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RET

NM_020975.6:p.L212M

Associated Papers

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Update on C-Cell Neuroendocrine Neoplasm: Prognostic and Predictive Histopathologic and Molecular Features of Medullary Thyroid Carcinoma.

Jung CK et al.

Endocrine Pathology, 2023

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

Chiacchiarini M et al.

Pharmacology & Therapeutics, 2021

Cushing Disease in a patient with Multiple Endocrine Neoplasia type 2B.

Kasturi K et al.

Journal of Clinical and Translational Endocrinology Case Reports, 2017

The diagnostic application of RNA sequencing in patients with thyroid cancer: an analysis of 851 variants and 133 fusions in 524 genes.

Pagan M et al.

Bmc Bioinformatics, 2016

26818556 (PubMed )
Supplement: 12859_2015_849_MOESM3_ESM.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

25425582 (PubMed )
Supplement: supp_ERC-14-0491_Supplementary_table_2.xlsx › Sheet1

Novel RET mutations in macedonian patients with medullary thyroid carcinoma: genotype-phenotype correlations.

Jovanovic R et al.

Prilozi (makedonska Akademija Na Naukite I Umetnostite. Oddelenie Za Medicinski Nauki), 2015

Identification of two novel RET kinase inhibitors through MCR-based drug discovery: design, synthesis and evaluation.

Frett B et al.

European Journal of Medicinal Chemistry, 2014

RET gene mutations (genotype and phenotype) of multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma.

Krampitz GW et al.

Cancer, 2014

A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis.

Hibi Y et al.

Endocrine Journal, 2014

2012 European thyroid association guidelines for genetic testing and its clinical consequences in medullary thyroid cancer.

Elisei R et al.

European Thyroid Journal, 2013

Functional characterisation of the bovine neuropeptide Y gene promoter and evaluation of the transcriptional activities of promoter haplotypes.

Alam T et al.

Molecular Biology Reports, 2012

Aggressive inherited and sporadic medullary thyroid carcinomas display similar oncogenic pathways.

Ameur N et al.

Endocrine-related Cancer, 2009

Histopathologic and clinical features of medullary microcarcinoma and C-cell hyperplasia in prophylactic thyroidectomies for medullary carcinoma: a study of 42 cases.

Etit D et al.

Archives of Pathology & Laboratory Medicine, 2008

[Mutation of the RET proto-oncogene in type 2A multiple endocrine neoplasia Chinese families and the application of pentagastrin stimulation test in diagnosis and follow-up].

Yao B et al.

Zhonghua Nei Ke Za Zhi, 2007

A unique RET EXON 11 (G691S) polymorphism in an Indian patient with a collision tumor of the thyroid.

Rekhi B et al.

Diagnostic Pathology, 2007

[Ultraviolet irradiation-mediated malignant melanoma induction with RET tyrosine kinase activation].

Kato M et al.

Nihon Eiseigaku Zasshi. Japanese Journal of Hygiene, 2007

RET exon 11 (G691S) polymorphism is significantly more frequent in sporadic medullary thyroid carcinoma than in the general population.

Elisei R et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

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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."