Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.

The nuclear-encoded Krebs cycle enzymes, fumarate hydratase (FH) and succinate dehydrogenase (SDHB, -C and -D), act as tumour suppressors. Germline mutations in FH predispose individuals to leiomyomas and renal cell cancer (HLRCC), whereas mutations in SDH cause paragangliomas and phaeochromocytomas...

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Bibliographic Details
Main Authors: Pollard, P, Brière, J, Alam, N, Barwell, J, Barclay, E, Wortham, N, Hunt, T, Mitchell, M, Olpin, S, Moat, S, Hargreaves, I, Heales, S, Chung, Y, Griffiths, JR, Dalgleish, A, McGrath, J, Gleeson, M, Hodgson, S, Poulsom, R, Rustin, P, Tomlinson, I
Format: Journal article
Language:English
Published: 2005