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

Prevalence and genetics of “de novo” MEN2 syndromes

25 Mar 2025

Abstract excerpt

CONTEXT: Hereditary medullary thyroid carcinoma (MTC) is an inherited syndrome accounting for 25% of MTC cases. It is caused by germline RET mutations, which can be inherited or occur de novo. OBJECTIVE: This study aimed to define the prevalence and genetics of de novo MEN2 syndromes, which are not yet fully understood, and to characterize the parental origin of the RET de novo mutation. METHODS: We selected 152...

Read the complete abstract on PubMed

Topics

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

Share to Thyroid and Parathyroid Surgery
Share to Thyroid Cancer Diagnosis and Treatment
Share to Thyroid Disorders and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 40128946
DOI: 10.1210/clinem/dgaf171

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prevalence and genetics of “de novo” MEN2 syndromesPMID 40128946Read ↗

RET Germline Mutations Identified by Exome Sequencing in a Chinese Multiple Endocrine Neoplasia Type 2A/Familial Medullary Thyroid Carcinoma FamilySemantic proximity Read ↗

MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males.Semantic proximity Read ↗

Accelerated MEN2A in homozygous RET carriers in the context of consanguinity.Semantic proximity Read ↗

Hereditary medullary thyroid carcinoma: how molecular genetics made multiple endocrine neoplasia type 2 a paediatric disease.Semantic proximity Read ↗

Genetic disorders of pediatric MEN2A patients in the south of Spain.Semantic proximity Read ↗

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

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

De novo mutation of the RET proto-oncogene revealing multiple endocrine neoplasia type 2A: a sporadic case from Western Algeria.Semantic proximity Read ↗

Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicismsSemantic proximity Read ↗

A novel <i>de novo</i> germ‐line V292M mutation in the extracellular region of RET in a patient with phaeochromocytoma and medullary thyroid carcinoma: functional characterizationSemantic proximity Read ↗

Parent-of-origin effects in multiple endocrine neoplasia type 2B.Semantic proximity Read ↗

The MEN II syndromes and the role of the ret proto-oncogene.Semantic proximity Read ↗

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