Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

The Journal of clinical endocrinology and metabolism - 1 Nov 2018

Loveday Chey, Josephs Katherine, Chubb Daniel, Gunning Adam, Izatt Louise, Tischkowitz Marc, Ellard Sian, Turnbull Clare

Abstract excerpt

Context: To date, penetrance figures for medullary thyroid cancer (MTC) for variants in rearranged during transfection (RET) have been estimated from families ascertained because of the presence of MTC. Objective: To gain estimates of penetrance, unbiased by ascertainment, we analyzed 61 RET mutations assigned as disease causing by the American Thyroid Association (ATA) in population whole-exome sequencing data....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Carcinoma, Neuroendocrine
Share to Datasets as Topic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Multiple Endocrine Neoplasia Type 2a

Share to Penetrance

Share to Practice Guidelines as Topic

Share to Proto-Oncogene Proteins c-ret

Share to Societies, Medical

Share to Thyroidectomy

Source

Open in PubMed Open full text

Identifiers

PMID: 29590403
DOI: 10.1210/jc.2017-02529
PMCID: PMC6194854

Genes

RET

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer.PMID 29590403Read ↗

Exomic sequencing of medullary thyroid cancer reveals dominant and mutually exclusive oncogenic mutations in RET and RAS.Semantic proximity Read ↗

Medullary Thyroid Cancer Risk and Mortality in Carriers of Incidentally Identified MEN2A RET VariantsSemantic proximity Read ↗

Molecular Basis and Natural History of Medullary Thyroid Cancer: It is (Almost) All in the RETSemantic proximity Read ↗

Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.Semantic proximity Read ↗

Prevalence by Age and Predictors of Medullary Thyroid Cancer in Patients with Lower Risk Germline <i>RET</i> Proto-Oncogene MutationsSemantic proximity Read ↗

2012 European Thyroid Association Guidelines for Genetic Testing and Its Clinical Consequences in Medullary Thyroid CancerSemantic proximity Read ↗

Genetic Landscape of Somatic Mutations in a Large Cohort of Sporadic Medullary Thyroid Carcinomas Studied by Next-Generation Targeted SequencingSemantic proximity Read ↗

Mutation Spectrum and Associated Risks of Medullary Thyroid Cancer and All-Cause Mortality in Incidentally Identified MEN2A-Causing<i>RET</i>VariantsSemantic proximity Read ↗

Next-Generation Sequencing in Sporadic Medullary Thyroid Cancer Patients: Mutation Profile and Disease AggressivenessSemantic proximity Read ↗

Constitutive RET tyrosine kinase activation in hereditary medullary thyroid cancer: clinical opportunities.Semantic proximity Read ↗

Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinoma.Semantic proximity Read ↗

Twenty-Five Years Experience on RET Genetic Screening on Hereditary MTC: An Update on The Prevalence of Germline RET MutationsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.