Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.L206L
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RET

NM_020975.6:p.L206L

Associated Papers

Multi-center multi-omics integration predicts individualized prognosis in medullary thyroid carcinoma.

Zhou Y et al.

Nature Communications, 2026

41535264 (PubMed )
Supplement: 41467_2025_67533_MOESM3_ESM.xlsx › Sheet1

The shifting landscape of germline RET pathogenic variants with the introduction of panel testing.

Onuma AE et al.

Surgery, 2026

Efficacy and Safety of Selective RET Inhibitors in Patients with Advanced Hereditary Medullary Thyroid Carcinoma.

Hamidi S et al.

Thyroid : Official Journal of the American Thyroid Association, 2025

Genotype-phenotype correlations of germline mutations in exon 10 of the RET proto-oncogene from 14 MEN2A families of Ethnic Han Chinese.

Li F et al.

Plos One, 2025

First-in-human, phase 1 dose-escalation and dose-expansion study of a RET inhibitor SY-5007 in patients with advanced RET-altered solid tumors.

Li W et al.

Signal Transduction and Targeted Therapy, 2024

39489747 (PubMed )
Supplement: 41392_2024_2006_MOESM1_ESM.docx

Current prospects of hereditary adrenal tumors: towards better clinical management.

Ohmoto A et al.

Hereditary Cancer in Clinical Practice, 2024

Progress and challenges in RET-targeted cancer therapy.

Hu X et al.

Frontiers of Medicine, 2023

Integrated proteogenomic characterization of medullary thyroid carcinoma.

Shi X et al.

Cell Discovery, 2022

36344509 (PubMed )
Supplement: 41421_2022_479_MOESM4_ESM.xlsx › Somatic_mutations

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

The importance of the RET gene in thyroid cancer and therapeutic implications.

Salvatore D et al.

Nature Reviews. Endocrinology, 2021

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

Genetic Landscape of Somatic Mutations in a Large Cohort of Sporadic Medullary Thyroid Carcinomas Studied by Next-Generation Targeted Sequencing.

Ciampi R et al.

Iscience, 2019

RET S409Y Germline Mutation and Associated Medullary Thyroid Carcinoma.

Qi XP et al.

Thyroid : Official Journal of the American Thyroid Association, 2019

Modifying impact of RET gene haplotypes on medullary thyroid carcinoma clinical course.

Kaczmarek-Ryś M et al.

Endocrine-related Cancer, 2018

A pioneering RET genetic screening study in the State of Ceará, Brazil, evaluating patients with medullary thyroid cancer and at-risk relatives: experience with 247 individuals.

Martins-Costa MC et al.

Archives of Endocrinology and Metabolism, 2018

Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.

Gudernova I et al.

Oncotarget, 2017

Aggressive medullary thyroid cancer, an analysis of the Irish National Cancer Registry.

Lennon P et al.

Irish Journal of Medical Science, 2017

Comprehensive Genomic Profiling of Clinically Advanced Medullary Thyroid Carcinoma.

Heilmann AM et al.

Oncology, 2016

Early, Prophylactic Thyroidectomy in Hereditary Medullary Thyroid Carcinoma: A 26-year Monoinstitutional Experience.

Pelizzo MR et al.

American Journal of Clinical Oncology, 2015

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

The value of genetic screening in medullary thyroid cancer.

Pappa T et al.

Expert Review of Endocrinology & Metabolism, 2014

MicroRNA profiles in familial and sporadic medullary thyroid carcinoma: preliminary relationships with RET status and outcome.

Mian C et al.

Thyroid : Official Journal of the American Thyroid Association, 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

Variant identification in multi-sample pools by illumina genome analyzer sequencing.

Margraf RL et al.

Journal of Biomolecular Techniques : Jbt, 2011

Multi-sample pooling and illumina genome analyzer sequencing methods to determine gene sequence variation for database development.

Margraf RL et al.

Journal of Biomolecular Techniques : Jbt, 2010

Multiple endocrine neoplasia type 2.

Lips CJ et al.

Expert Review of Endocrinology & Metabolism, 2009

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

Santarpia L et al.

Journal of Internal Medicine, 2009

Familial prevalence and age of RET germline mutations: implications for screening.

Machens A et al.

Clinical Endocrinology, 2008

Pheochromocytoma penetrance varies by RET mutation in MEN 2A.

Machens A et al.

Surgery, 2008

The occurrence and the type of germline mutations in the RET gene in patients with medullary thyroid carcinoma and their unaffected kindred's from Central Poland.

Paszko Z et al.

Cancer Investigation, 2007

Pheochromocytoma penetrance varies by RET mutation in MEN 2A.

Quayle FJ et al.

Surgery, 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

Masking selected sequence variation by incorporating mismatches into melting analysis probes.

Margraf RL et al.

Human Mutation, 2006

Presymptomatic thyroidectomy in multiple endocrine neoplasia 2a.

Heizmann O et al.

European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology, 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

Multiple endocrine neoplasia type 2.

Peczkowska M et al.

Familial Cancer, 2005

Early malignant progression of hereditary medullary thyroid cancer.

Machens A et al.

The New England Journal of Medicine, 2003

Multiple endocrine neoplasias type 2A and thyroid medullary carcinoma: an interdisciplinary challenge.

Haecker FM et al.

Pediatric Surgery International, 2003

A new therapeutic approach in medullary thyroid cancer treatment: inhibition of oncogenic RET signaling by adenoviral vector-mediated expression of a dominant-negative RET mutant.

Drosten M et al.

Surgery, 2002

Fluorescent sequencing for heterozygote mutation detection.

Graham CA et al.

Methods in Molecular Biology (clifton, N.j.), 2001

Rapid, nonradioactive screening for mutations in exons 10, 11, and 16 of the RET protooncogene associated with inherited medullary thyroid carcinoma.

Siegelman M et al.

Clinical Chemistry, 1997

RET mutation screening in MEN2 patients and discovery of a novel mutation in a sporadic medullary thyroid carcinoma.

Jhiang SM et al.

Thyroid : Official Journal of the American Thyroid Association, 1996

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