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Assessment of phenotypes in a unique group of RET proto-oncogene Y791F variant carriers in the Polish population.

Endokrynologia Polska - 1 Jan 2026

Hasse-Lazar Kornelia, Kotecka-Blicharz Agnieszka, Gawlik Tomasz, Kołton Magdalena, Pawlaczek Agnieszka, Żebracka-Gala Jadwiga, Oczko-Wojciechowska Malgorzata, Chmielik Ewa, Czarniecka Agnieszka, Krajewska Jolanta, Lazar Michał, Kłuś Aleksandra, Handkiewicz-Junak Daria, Jarząb Barbara

Abstract excerpt

INTRODUCTION: Among all RET proto-oncogene variants, Y791F has been the most controversial and widely debated with regard to itspathogenicity and clinical significance. MATERIAL AND METHODS: Medical records of 104 RET Y791F variant carriers were retrospectively analyzed. The population comprised 30 probands with medullary thyroid carcinoma (MTC), 6 probands with pheochromocytoma, 63 family members, and 5 patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42504689
DOI: 10.5603/ep.112146

Genes

RET

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Assessment of phenotypes in a unique group of RET proto-oncogene Y791F variant carriers in the Polish population.PMID 42504689Read ↗

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