Article

Spectrum of Germline RET Variants Identified by Targeted Sequencing and Associated Multiple Endocrine Neoplasia Type 2 Susceptibility in China

2021-05-18

Abstract excerpt

<h4>Background: </h4> Germline RET mutations and variants are involved in development of multiple endocrine neoplasia type 2 (MEN2). The present study investigated a spectrum of RET variants, analyzed genotype-phenotype relationships, and evaluated their effect on the MEN2 phenotype in Han Chinese patients. <h4>Methods: </h4>: Targeted sequencing detected germline RET variants in 697 individuals, including 245 MEN...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b34bc4d1-28ae-52c4-a13b-a78d256ceb65
DOI: 10.21203/rs.3.rs-531062/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Spectrum of Germline RET Variants Identified by Targeted Sequencing and Associated Multiple Endocrine Neoplasia Type 2 Susceptibility in ChinaDOI 10.21203/rs.3.rs-531062/v1Read

Molecular Diagnosis and Treatment of Multiple Endocrine Neoplasia Type 2B in Ethnic Han Chinese.Semantic proximity Read

Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families.Semantic proximity Read

[Genotype-phenotype correlations in multiple endocrine neoplasia type 2].Semantic proximity Read

Genotype/phenotype correlations in multiple endocrine neoplasia type 2.Semantic proximity Read

RET proto-oncogene mutations are restricted to codons 634 and 918 in mainland Chinese families with MEN2A and MEN2B.Semantic proximity Read

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

Update on Multiple Endocrine Neoplasia Type 2: Focus on Medullary Thyroid CarcinomaSemantic proximity Read

Impact of RET proto-oncogene analysis on the clinical management of multiple endocrine neoplasia type 2.Semantic proximity Read

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

Multiple Endocrine Neoplasia Type 2 (MEN2) and RET Specific Modifications of the ACMG/AMP Variant Classification Guidelines and Impact on the MEN2 RET DatabaseSemantic proximity Read

Phaeochromocytoma in multiple endocrine neoplasia type 2: RET codon‐specific penetrance and changes in management during the last four decadesSemantic proximity Read