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Article

The synergy of germline C634Y and V292M RET mutations in a northern Chinese family with multiple endocrine neoplasia type 2A.

Journal of cellular and molecular medicine - 1 Nov 2020

Yang Zheng, Qi Xinmeng, Gross Neil, Kou Xiujuan, Bai Yunlong, Feng Yaru, Wang Bochun, Zafereo Mark E, Li Guojun, Sun Chuanzheng, Li Huihui, Chen Xiaohong, Huang Zhigang

Abstract excerpt

Genetic analysis for germline mutations of RET proto-oncogene has provided a basis for individual management of medullary thyroid carcinoma (MTC) and pheochromocytoma. Most of compound mutations have more aggressive phenotypes than single point mutations, but the compound C634Y/V292M variant in MTC has never been reported. Thus, we retrospectively investigated synergistic effect of C634Y and V292M RET germline...

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Identifiers

PMID: 32989896
DOI: 10.1111/jcmm.15922
PMCID: PMC7701567

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.

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