Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.Y791F
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RET

NM_020975.6:p.Y791F

Associated Papers

BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.

Golan H et al.

Bmc Cancer, 2025

41174508 (PubMed )
Supplement: 12885_2025_14595_MOESM2_ESM.xls › high-confidence_variants__2_

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

Proposed framework for triage of putative germline variants detected via tumour genomic testing in UK oncology practice.

McVeigh TP et al.

Journal of Medical Genetics, 2025

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

Takahashi M

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

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

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

RET Y791F in MEN2: a variant presumed non-pathogenic, yet lacking conclusive evidence of insignificance.

Binter T et al.

Gland Surgery, 2025

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

Variability in proliferative and migratory defects in Hirschsprung disease-associated RET pathogenic variants.

Fries LE et al.

American Journal of Human Genetics, 2025

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

Srivastava A et al.

European Journal of Endocrinology, 2025

Incidental germline findings during comprehensive genomic profiling of pancreatic and colorectal cancer: single-centre, molecular tumour board experience.

Eid M et al.

Mutagenesis, 2025

Molecular Profiling of Low-Risk Papillary Thyroid Carcinoma (mPTC) on Active Surveillance.

Ramone T et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Hereditary Medullary Thyroid Cancer: Genotype-Phenotype Correlation.

Frank-Raue K et al.

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

Genetic Characterization of Turkish Patients with Pituitary Neuroendocrine Tumors.

Alavanda C et al.

Turkish Neurosurgery, 2025

Comparison of targeted next generation sequencing assays in non-small cell lung cancer patients.

Drejeriene I et al.

Discover Oncology, 2024

39692940 (PubMed )
Supplement: 12672_2024_1640_MOESM1_ESM.docx

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

Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.

Seo ES et al.

Nature Communications, 2024

39333105 (PubMed )
Supplement: 41467_2024_52128_MOESM4_ESM.xlsx › Supple_Data3_TARGET_CPG_list

Variability in proliferative and migratory defects in Hirschsprung disease-associated RET pathogenic variants.

Fries LE et al.

Biorxiv : the Preprint Server for Biology, 2024

Genomic instability in congenital lung malformations in children.

Rodrigues de Moura R et al.

Pediatric Surgery International, 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

RET 634 germline/gonadal mosaicism generating a second pathogenic amino acid change in multiple endocrine neoplasia type 2A.

Valente FOF et al.

American Journal of Medical Genetics. Part A, 2024

Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.

Deyell RJ et al.

Nature Communications, 2024

38755180 (PubMed )
Supplement: 41467_2024_48363_MOESM7_ESM.xlsx › Figure_2A__right_

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

Hamidi S et al.

Annales D'endocrinologie, 2024

Unraveling the Promise of RET Inhibitors in Precision Cancer Therapy by Targeting RET Mutations.

Wang ZX et al.

Journal of Medicinal Chemistry, 2024

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_11

Association of the Genomic Profile of Medullary Thyroid Carcinoma with Tumor Characteristics and Clinical Outcomes in an International Multicenter Study.

Xu B et al.

Thyroid : Official Journal of the American Thyroid Association, 2024

Multiple endocrine neoplasia type 2: towards a risk-based approach integrating molecular and biomarker results.

Machens A et al.

Current Opinion in Oncology, 2024

Development, testing and validation of a targeted NGS-panel for the detection of actionable mutations in lung cancer (NSCLC) using anchored multiplex PCR technology in a multicentric setting.

Kumbrink J et al.

Pathology Oncology Research : Por, 2024

38605929 (PubMed )
Supplement: Table1.XLSX › Sup_Table_1_Comparison_details

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_6.XLSX › 628_all_list_group_2

Genomic profiling of NSCLC tumors with the TruSight oncology 500 assay provides broad coverage of clinically actionable genomic alterations and detection of known and novel associations between genomic alterations, TMB, and PD-L1.

Wallen ZD et al.

Frontiers in Oncology, 2024

39664186 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2

Peritoneal papillary mesothelioma in situ: BAP1 mutation with indolent behavior for 15 years.

Vitlarov N et al.

Virchows Archiv : an International Journal of Pathology, 2023

Integrated Molecular Characterization of HER2-Low Breast Cancer Using Next Generation Sequencing (NGS).

Merlin JL et al.

Biomedicines, 2023

Targeting the RET tyrosine kinase in neuroblastoma: A review and application of a novel selective drug design strategy.

Steen EA et al.

Biochemical Pharmacology, 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

Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2.

Frommherz L et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

The role of next-generation sequencing in the examination of signaling genes in Brca1/2-negative breast cancer cases.

Cine N et al.

Annals of Human Genetics, 2023

Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Vormittag-Nocito E et al.

Cancer Medicine, 2023

Targeting RET alterations in cancer: Recent progress and future directions.

Shabbir A et al.

Critical Reviews in Oncology/hematology, 2023

A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism.

Sunardi M et al.

Cellular and Molecular Gastroenterology and Hepatology, 2023

Druggable genomic landscapes of high-grade gliomas.

Ghanem P et al.

Frontiers in Medicine, 2023

38143440 (PubMed )
Supplement: Table_1.xlsx › ST5

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

Novel Calcium-Binding Ablating Mutations Induce Constitutive RET Activity and Drive Tumorigenesis.

Tabata J et al.

Cancer Research, 2022

36166639 (PubMed )
Supplement: can-22-0834_supplementary_table_s2_suppst2.xlsx › Supplementary_Table_S2

A practical guide to genetic testing in endocrinology.

Izatt L et al.

Clinical Endocrinology, 2022

Combined Focused Next-Generation Sequencing Assays to Guide Precision Oncology in Solid Tumors: A Retrospective Analysis from an Institutional Molecular Tumor Board.

Tarawneh TS et al.

Cancers, 2022

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