Article

A novel genetic strategy to interrogate an unknown phenotypic modifier: an Sdhc KO-Robertsonian mouse with a semi-homologous chromosome develops papillary thyroid carcinoma-like tumours

2025-11-01

Abstract excerpt

SDHD and SDHAF2 pathogenic variants confer a remarkable parent-of-origin tumour risk for the neuroendocrine tumours paraganglioma and pheochromocytoma. Paternally transmitted variants cause tumours but maternally transmitted variants do not. The Hensen hypothesis asserts that loss of an (unknown) imprinted gene(s), together the remaining wildtype SDH gene, is a prerequisite for tumour formation. This study had th...

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Literature Corpus work: 4f0106ef-5c1c-5d5c-b5f8-3be2774f2303
DOI: 10.1101/2025.10.31.685748

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