Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.R912P
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RET

NM_020975.6:p.R912P

Associated Papers

Approach to the Patient: Hereditary Medullary Thyroid Carcinoma.

Shariq OA et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

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

Srivastava A et al.

European Journal of Endocrinology, 2025

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

Gigliotti BJ et al.

Molecular and Cellular Endocrinology, 2024

Pediatric Medullary Thyroid Carcinoma: Clinical Presentations and Long-Term Outcomes in 144 Patients Over 6 Decades.

Hensley SG et al.

The Journal of Clinical Endocrinology and Metabolism, 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

Looking for RET alterations in thyroid cancer: clinical relevance, methodology and timing.

Elisei R et al.

Endocrine, 2023

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

Martins RS et al.

Journal of Personalized Medicine, 2023

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

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

Diagnostic Challenges of Medullary Thyroid Carcinoma.

Leimbach RD et al.

Oncology, 2021

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

Pharmacogenomics, biomarker network, and allele frequencies in colorectal cancer.

López-Cortés A et al.

The Pharmacogenomics Journal, 2020

Twenty-Five Years Experience on RET Genetic Screening on Hereditary MTC: An Update on The Prevalence of Germline RET Mutations.

Elisei R et al.

Genes, 2019

Long-term outcome after DNA-based prophylactic neck surgery in children at risk of hereditary medullary thyroid cancer.

Machens A et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2019

[Familial medullary thyroid carcinoma: case report and literature review.]

Barletta Carrillo CF et al.

Revista De La Facultad De Ciencias Medicas (cordoba, Argentina), 2018

p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer.

Loveday C et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

Pathogenic Germline Variants in 10,389 Adult Cancers.

Huang KL et al.

Cell, 2018

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

Gudernova I et al.

Oncotarget, 2017

Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.

Newey PJ et al.

Journal of the Endocrine Society, 2017

29308445 (PubMed )
Supplement: js-01-12-1507.st1.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

28946813 (PubMed )
Supplement: sj-pdf-1-thy-10.1089_thy.2016.0399.pdf

Medullary Thyroid Carcinoma in MEN2A: ATA Moderate- or High-Risk RET Mutations Do Not Predict Disease Aggressiveness.

Voss RK et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

Surgical approaches in hereditary endocrine tumors.

Iacobone M et al.

Updates in Surgery, 2017

Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study.

Mathiesen JS et al.

Thyroid : Official Journal of the American Thyroid Association, 2017

Diversity of mutations in the RET proto-oncogene and its oncogenic mechanism in medullary thyroid cancer.

Hedayati M et al.

Critical Reviews in Clinical Laboratory Sciences, 2016

Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.

Wells SA et al.

Thyroid : Official Journal of the American Thyroid Association, 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

Histopathology of C Cells and Medullary Thyroid Carcinoma.

Schmid KW

Recent Results in Cancer Research. Fortschritte Der Krebsforschung. Progres Dans Les Recherches Sur Le Cancer, 2015

Primary Hyperparathyroidism in MEN2 Syndromes.

Alevizaki M et al.

Recent Results in Cancer Research. Fortschritte Der Krebsforschung. Progres Dans Les Recherches Sur Le Cancer, 2015

The value of genetic screening in medullary thyroid cancer.

Pappa T et al.

Expert Review of Endocrinology & Metabolism, 2014

Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update.

Wells SA et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

RET codon 804 mutations in multiple endocrine neoplasia 2: genotype-phenotype correlations and implications in clinical management.

Mukherjee S et al.

Clinical Genetics, 2011

Multiple endocrine neoplasia type 2.

Wohllk N et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2010

[Medullary thyroid cancer, a tumour with many appearances].

Verbeek HH et al.

Nederlands Tijdschrift Voor Geneeskunde, 2010

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

Santarpia L et al.

Journal of Internal Medicine, 2009

Medullary thyroid cancer: management guidelines of the American Thyroid Association.

Kloos RT et al.

Thyroid : Official Journal of the American Thyroid Association, 2009

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

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

RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors.

de Groot JW et al.

Endocrine Reviews, 2006

An introduction to managing medullary thyroid cancer.

de Groot JW et al.

Hereditary Cancer in Clinical Practice, 2006

Minireview: RET: normal and abnormal functions.

Santoro M et al.

Endocrinology, 2004

A novel point mutation of the RET protooncogene involving the second intracellular tyrosine kinase domain in a family with medullary thyroid carcinoma.

Jimenez C et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

Medullary carcinoma of the thyroid gland and the MEN 2 syndromes.

Skinner MA et al.

Seminars in Pediatric Surgery, 1997

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