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

Penetrance of inherited medullary thyroid carcinoma and genotype-phenotype correlation in a large multiple endocrine neoplasia type 2A family with C634Y RET mutation.

Endocrine pathology - 1 Jan 2003

González-Yebra Beatriz, Medrano María Elena, Mantilla Alejandra, Palma Virginia, Colin Carmen, Hernández Dulce María, Tapia José, Dawson Brian, Salcedo Mauricio

Abstract excerpt

Multiple endocrine neoplasia type 2A (MEN 2A) and familial medullary thyroid carcinoma (FMTC) are characterized by development of medullary thyroid carcinoma (MTC) and caused by germline RET mutations. Patients with MEN 2A also develop pheochromocytoma and/or hyperparathyroidism (HPT). However, MEN 2A-affected individuals could display the FMTC phenotype at first clinical manifestation. To establish the correct...

Read the complete abstract on PubMed

Topics

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

Share to Calcitonin
Share to Carcinoma, Medullary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperthyroidism

Share to Multiple Endocrine Neoplasia Type 2a

Share to Parathyroid Glands

Share to Penetrance

Share to Proto-Oncogene Proteins c-ret

Share to Thyroidectomy

Source

Identifiers

PMID: 12746565
DOI: 10.1385/ep:14:1:71

Genes

RET

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

Penetrance of inherited medullary thyroid carcinoma and genotype-phenotype correlation in a large multiple endocrine neoplasia type 2A family with C634Y RET mutation.PMID 12746565Read ↗

RET proto-oncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors.Semantic proximity Read ↗

Familial medullary thyroid carcinoma: not a distinct entity? Genotype-phenotype correlation in a large family.Semantic proximity Read ↗

Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update.Semantic proximity Read ↗

Genetic testing in medullary thyroid carcinoma syndromes: mutation types and clinical significance.Semantic proximity Read ↗

Hereditary Medullary Thyroid Cancer Genotype-Phenotype Correlation.Semantic proximity Read ↗

Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia type 2 (MEN 2) syndrome and no apparent genotype-phenotype correlation: an appraisal of p.Y791F and p.C634Y RET mutations in five unrelated Brazilian families.Semantic proximity Read ↗

Medullary thyroid carcinoma and multiple endocrine neoplasia type 2.Semantic proximity Read ↗

Genotype-phenotype relationship in multiple endocrine neoplasia type 2. Implications for clinical management.Semantic proximity Read ↗

Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship.Semantic proximity Read ↗

Genetics of medullary thyroid cancer: An overview.Semantic proximity Read ↗

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

Molecular genetics and phenomics of RET mutations: Impact on prognosis of MTC.Semantic proximity Read ↗

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