Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.V804L
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RET

NM_020975.6:p.V804L

Associated Papers

RET germline mutations drive tumorigenesis but not tumor aggressiveness in MEN 2.

Machens A et al.

Endocrine, 2026

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

Rare cases in two Chinese MEN2A families with RET C634Y germline mutation-a homozygous female patient and heterozygous identical twins: a systematic review of literature.

Qi XP et al.

Frontiers in Endocrinology, 2026

Landscape of Phenotype-Genotype Correlations in Romanian Patients with Medullary Thyroid Carcinoma.

Stanescu LS et al.

Cancers, 2025

RET Gene Alterations in Clinical Practice: A Comprehensive Review and Database Update.

Ricciardi Tenore C et al.

Genes, 2025

41465145 (PubMed )
Supplement: genes-16-01472-s001.zip › genes-3934011-supplementary.pdf

Real-world efficacy and safety of selpercatinib in RET-mutant medullary thyroid cancer at a Tertiary Referral Center.

Machlah YM et al.

European Journal of Endocrinology, 2025

Population Prevalence of the Major Thyroid Cancer-Associated Syndromes.

White SL et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Geospatial inheritance across the breath of the RET mutational landscape of multiple endocrine neoplasia 2A.

Machens A et al.

Endocrine, 2025

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Four decades of the RET gene: From discovery to tumor-agnostic therapy.

Takahashi M

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2025

Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.

Charoenngam N et al.

European Journal of Endocrinology, 2025

40974092 (PubMed )
Supplement: lvaf191_supplementary_data.docx

Discovery of APS03118, a Potent and Selective Next-Generation RET Inhibitor with a Novel Kinase Hinge Scaffold.

Zhong J et al.

Journal of Medicinal Chemistry, 2025

Myoepithelial Carcinoma Ex-Pleomorphic Adenoma Exposing a RET Germline Mutation: A Rare Genetic Event.

Al Masri M et al.

Head and Neck Pathology, 2025

Discovery of an orally bioavailable, CNS active pan-mutant RET kinase heterobifunctional degrader.

Orsi DL et al.

Rsc Medicinal Chemistry, 2025

Approach to the Patient: Hereditary Medullary Thyroid Carcinoma.

Shariq OA et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

On-target toxicity limits the efficacy of CDK11 inhibition against cancers with 1p36 deletions.

Julian L et al.

Biorxiv : the Preprint Server for Biology, 2025

40766692 (PubMed )
Supplement: media-14.xlsx › Table_S14_-_KINOMEscan_data

Targeting RET in medullary thyroid cancer.

Newbold K et al.

Endocrine-related Cancer, 2025

An updated patent review of rearranged during transfection (RET) kinase inhibitors (2022-present).

Armstrong D et al.

Expert Opinion on Therapeutic Patents, 2025

STX-721, a Covalent EGFR/HER2 Exon 20 Inhibitor, Utilizes Exon 20-Mutant Dynamic Protein States and Achieves Unique Mutant Selectivity Across Human Cancer Models.

Pagliarini RA et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

40465424 (PubMed )
Supplement: ccr-24-3833_supplementary_tables1_suppts1.xlsx › Table_2_-_kinomescan

Design and Discovery of Novel Selective RET Inhibitors with High Central Nervous System Penetration, Enhanced Pharmacokinetics, and Pharmacodynamics.

Wang X et al.

Journal of Medicinal Chemistry, 2025

Incidence and distribution of neck node metastases in hereditary vs. sporadic medullary thyroid cancer at basal calcitonin serum levels ≤100 pg/ml: 30-year experience.

Machens A et al.

European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology, 2025

Medullary Thyroid Cancer Risk and Mortality in Carriers of Incidentally Identified MEN2A RET Variants.

West CE et al.

Jama Network Open, 2025

Dual Disruption of DNA Repair by a Novel CHK2 Inhibitor, ART-446, and Olaparib is a Promising Strategy for Triple-Negative Breast Cancer Therapy.

Kang HJ et al.

Biomolecules & Therapeutics, 2025

40195731 (PubMed )
Supplement: bt-33-3-458-supple.pdf

Natural history of medullary thyroid carcinoma in MEN 2 patients carrying a variant at codon 804 in the RET proto-oncogene: A study by the French Neuroendocrine Tumor Group (GTE).

Suteau V et al.

Annales D'endocrinologie, 2025

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

Srivastava A et al.

European Journal of Endocrinology, 2025

Treatment of non-small cell lung cancer with RET rearrangements.

Hoe HJ et al.

Cancer, 2025

Discovery of a Selective and Orally Bioavailable RET Degrader with Effectiveness in Various Mutations.

Hualong M et al.

Journal of Medicinal Chemistry, 2025

Image-Based Phenotypic Profiling Enables Rapid and Accurate Assessment of EGFR-Activating Mutations in Tissues from Lung Cancer Patients.

Lei Q et al.

Journal of the American Chemical Society, 2025

39745025 (PubMed )
Supplement: ja4c16528_si_001.pdf

Mechanisms of resistance to RET-directed therapies.

Clifton-Bligh RJ

Endocrine-related Cancer, 2025

Rearranged during transfection (RET) lung cancer - Update on targeted therapies.

Mullally WJ et al.

Lung Cancer (amsterdam, Netherlands), 2025

Discovery of MDI-114215: A Potent and Selective LIMK Inhibitor To Treat Fragile X Syndrome.

Baldwin AG et al.

Journal of Medicinal Chemistry, 2025

39711116 (PubMed )
Supplement: jm4c02694_si_002.pdf

Discovery of an Efficacious RET PROTAC Degrader with Enhanced Antiproliferative Activity against Resistant Cancer Cells Harboring RET Solvent-Front Mutations.

Zhang Q et al.

Journal of Medicinal Chemistry, 2025

Overview of management and therapeutic advances in medullary thyroid cancer.

Jara MA et al.

Endocrine Oncology (bristol, England), 2025

Surgical Treatment of Medullary Thyroid Cancer.

Machens A et al.

Recent Results in Cancer Research. Fortschritte Der Krebsforschung. Progres Dans Les Recherches Sur Le Cancer, 2025

Systemic Therapies for Advanced Medullary Thyroid Carcinoma.

Santillan MR et al.

Recent Results in Cancer Research. Fortschritte Der Krebsforschung. Progres Dans Les Recherches Sur Le Cancer, 2025

Systemic therapies for medullary thyroid carcinoma: state of the art.

Román-González A et al.

Therapeutic Advances in Endocrinology and Metabolism, 2025

BYS10, a novel selective RET inhibitor, exhibits potent antitumor activity in preclinical models.

Qin F et al.

Frontiers in Pharmacology, 2025

Discovery of a Novel Mutant-Selective Epidermal Growth Factor Receptor Inhibitor Using an In Silico Enabled Drug Discovery Platform.

Igawa H et al.

Journal of Medicinal Chemistry, 2024

39666597 (PubMed )
Supplement: jm4c01405_si_001.pdf

Prevalence of the major thyroid cancer-associated syndromes in the United States.

White SL et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Discovery of highly potent and ALK2/ALK1 selective kinase inhibitors using DNA-encoded chemistry technology.

Jimmidi R et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

39541346 (PubMed )
Supplement: pnas.2413108121.sapp.pdf

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_MOESM2_ESM.docx

A first-in-class Wiskott-Aldrich syndrome protein activator with antitumor activity in hematologic cancers.

Spriano F et al.

Haematologica, 2024

38899342 (PubMed )
Supplement: 2022_282672_SPRIANO_TABS4_SUPPL.xlsx › Discoverex-KINOMEscan

Fundamentals and recent advances in the evaluation and management of medullary thyroid carcinoma.

Gigliotti BJ et al.

Molecular and Cellular Endocrinology, 2024

A Case of Cushing's Disease and a RET Pathogenic Variant: Exploring Possible Rare Associations.

Vaz de Assunção G et al.

Cureus, 2024

Molecular genetics, therapeutics and RET inhibitor resistance for medullary thyroid carcinoma and future perspectives.

Zhang Y et al.

Cell Communication and Signaling : Ccs, 2024

Strain-release alkylation of Asp12 enables mutant selective targeting of K-Ras-G12D.

Zheng Q et al.

Nature Chemical Biology, 2024

38443470 (PubMed )
Supplement: 41589_2024_1565_MOESM1_ESM.pdf
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