Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.D631Y
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RET

NM_020975.6:p.D631Y

Associated Papers

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

Approach to the Patient: Hereditary Medullary Thyroid Carcinoma.

Shariq OA et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

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

West CE et al.

Jama Network Open, 2025

Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.

Jha P et al.

The Journal of Liquid Biopsy, 2025

40503459 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

Genomic profiling and pathological assessment of malignant peripheral nerve sheath tumors.

Cui Q et al.

Journal of Cancer Research and Clinical Oncology, 2025

40369172 (PubMed )
Supplement: 432_2025_6209_MOESM5_ESM.xlsx › Sheet1

A Comprehensive Target Panel Allows to Extend the Genetic Spectrum of Neuroendocrine Tumors.

Tsoy UA et al.

Neuroendocrinology, 2025

Genetic landscape of Romanian PPGLs.

Lider-Burciulescu SM et al.

Journal of Cellular and Molecular Medicine, 2024

Germline Mutations and Phenotypic Associations in Korean Patients With Pheochromocytoma and Paraganglioma: A Multicenter Study and Literature Review.

Jo KH et al.

Annals of Laboratory Medicine, 2024

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

Gigliotti BJ et al.

Molecular and Cellular Endocrinology, 2024

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

Hamidi S et al.

Annales D'endocrinologie, 2024

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

Ohmoto A et al.

Hereditary Cancer in Clinical Practice, 2024

Does Genotype-Specific Phenotype in Patients with Multiple Endocrine Neoplasia Type 2 Occur as Current Guidelines Predict?

Binter T et al.

Cancers, 2024

Unveiling new chapters in medullary thyroid carcinoma therapy: advances in molecular genetics and targeted treatment strategies.

Huai JX et al.

Frontiers in Endocrinology, 2024

Molecular Basis and Natural History of Medullary Thyroid Cancer: It is (Almost) All in the RET.

Sahakian N et al.

Cancers, 2023

Medullary Thyroid Cancer: Updates and Challenges.

Gild ML et al.

Endocrine Reviews, 2023

Personalized Medicine in Medullary Thyroid Carcinoma: A Broad Review of Emerging Treatments.

Martins RS et al.

Journal of Personalized Medicine, 2023

Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A in Denmark 1930–2021: A Nationwide Population-Based Retrospective Study

Holm M et al.

Cancers, 2023

Progress and challenges in RET-targeted cancer therapy.

Hu X et al.

Frontiers of Medicine, 2023

The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.

Yang Y et al.

Bmc Urology, 2022

Multiple endocrine neoplasia type 2 and autoimmune polyendocrine syndromes (type 1 diabetes mellitus and Graves' disease) in a 16-year-old male with Kabuki syndrome.

Park E et al.

Endocrine Journal, 2022

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

Tabata J et al.

Cancer Research, 2022

An integrative pan cancer analysis of RET aberrations and their potential clinical implications.

Zhou L et al.

Scientific Reports, 2022

35978072 (PubMed )
Supplement: 41598_2022_17791_MOESM3_ESM.xlsx › table

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Clinical features and signaling effects of RET D631Y variant multiple endocrine neoplasia type 2 (MEN2).

Lee JY et al.

The Korean Journal of Internal Medicine, 2022

Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma.

Kim JH et al.

Journal of Medical Genetics, 2022

Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Ma X et al.

Frontiers in Endocrinology, 2022

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

Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.

Yonamine M et al.

Cancers, 2021

A patient with RET D631Y mutation present with pheochromocytoma.

Kim JM

Clinical Case Reports, 2021

Hereditary Medullary Thyroid Carcinoma: Genotype, Phenotype and Outcomes in a North Indian Cohort.

Valiveru RC et al.

World Journal of Surgery, 2021

Current Guidelines for Management of Medullary Thyroid Carcinoma.

Kim M et al.

Endocrinology and Metabolism (seoul, Korea), 2021

A Narrative Review of Genetic Alterations in Primary Thyroid Epithelial Cancer.

Romei C et al.

International Journal of Molecular Sciences, 2021

Diagnostic Challenges of Medullary Thyroid Carcinoma.

Leimbach RD et al.

Oncology, 2021

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

Genetic testing in endocrine surgery: Opportunities for precision surgery.

Alobuia W et al.

Surgery, 2020

Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.

Larsen LV et al.

Endocrine Connections, 2020

Ancestry-specific predisposing germline variants in cancer.

Oak N et al.

Genome Medicine, 2020

32471518 (PubMed )
Supplement: 13073_2020_744_MOESM2_ESM.xlsx › S5b.SomaticRNAseq

Pheochromocytoma and Paraganglioma in Children and Adolescents: Experience of the French Society of Pediatric Oncology (SFCE).

de Tersant M et al.

Journal of the Endocrine Society, 2020

Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.

Ma X et al.

Frontiers in Endocrinology, 2020

Incidence and prevalence of sporadic and hereditary MTC in Denmark 1960-2014: a nationwide study.

Mathiesen JS et al.

Endocrine Connections, 2018

Role of RET protein-tyrosine kinase inhibitors in the treatment RET-driven thyroid and lung cancers.

Roskoski R et al.

Pharmacological Research, 2018

Incidence and prevalence of multiple endocrine neoplasia 2A in Denmark 1901-2014: a nationwide study.

Mathiesen JS et al.

Clinical Epidemiology, 2018

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

Gudernova I et al.

Oncotarget, 2017

29312610 (PubMed )
Supplement: oncotarget-08-109319-s003.docx

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.

Lebeault M et al.

Thyroid : Official Journal of the American Thyroid Association, 2017

Clinical Features of a Family with Multiple Endocrine Neoplasia Type 2A Caused by the D631Y RET Mutation.

Ospina NS et al.

Thyroid : Official Journal of the American Thyroid Association, 2017

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