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Article

Genetic diagnosis of a Chinese multiple endocrine neoplasia type 2A family through whole genome sequencing.

Journal of biosciences - 1 Jun 2017

DU Zhen-Fang, Li Peng-Fei, Zhao Jian-Qiang, Cao Zhi-Lie, Li Feng, Ma Ju-Ming, Qi Xiao-Ping

Abstract excerpt

Approximately 98% of patients with multiple endocrine neoplasia type 2A (MEN 2A) have an identifiable RET mutation. Prophylactic or early total thyroidectomy or pheochromocytoma/parathyroid removal in patients can be preventative or curative and has become standard management. The general strategy for RET screening on family members at risk is to sequence the most commonly affected exons and, if negative, to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28569245
DOI: 10.1007/s12038-017-9686-5

Genes

RET
FSIP1
OVCH2
RSPO1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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