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SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice

15 Jul 2019

Abstract excerpt

The enzyme succinate dehydrogenase (SDH) functions in the citric acid cycle and loss of function predisposes to the development of phaeochromocytoma/paraganglioma (PPGL), wild type gastrointestinal stromal tumour (wtGIST) and renal cell carcinoma. SDH-deficient tumours are most commonly associated with a germline SDH subunit gene (SDHA/B/C/D) mutation but can also be associated with epigenetic silencing of the...

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PMID: 31308404
DOI: 10.1038/s41598-019-46124-9

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