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Germline Multigene Panel Testing in Japanese Patients with Pheochromocytoma and Paraganglioma: Technical Feasibility and Clinical Utility.

Genetic testing and molecular biomarkers - 1 Oct 2025

Yonamine Masato, Koyanagi Ryo, Ishibashi Noriyo, Aita Yuichi, Takekoshi Kazuhiro

Abstract excerpt

Background: Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumors with a high rate of germline predisposition. Although multigene panel testing (MGPT) using next-generation sequencing (NGS) is widely adopted globally, its clinical application in Japan remains limited. Methods: We developed a custom amplicon-based NGS panel targeting 12 established PPGL susceptibility genes. Germline analysis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41003476
DOI: 10.1177/19450265251382504

Genes

FH
MAX
RET
SDHA
SDHB
VHL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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